Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASNS_chr7_97846677_97877408	97872310	T T	TGGCGCGG others(7): Show TGGCGCGGGGCGCAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00558.hp2 others(93): Show HG00140.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02055.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG03041.hp1 HG03139.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18966.hp1 NA18974.hp2 NA18975.hp2 NA18984.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19010.hp2 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19066.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0003c0005 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0006t0001 a0002c0002t0001 a0003c0005t0001 a0006c0010t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0019 others(50): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0180 a0001c0001t0002g0191 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0005g0057 a0001c0001t0005g0179 a0001c0001t0005g0211 a0001c0001t0005g0213 a0001c0001t0005g0216 a0001c0001t0007g0194 a0001c0001t0010g0232 a0001c0006t0001g0187 a0001c0006t0001g0197 a0001c0006t0001g0199 a0002c0002t0001g0015 a0002c0002t0001g0188 a0002c0002t0001g0190 a0003c0005t0001g0058 a0006c0010t0001g0204	96	436	0.2202	14	c.-60 others(27): Show c.-60+27_-60+40dupCTGCGCCCCGCGCC	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	1/12			chr7	TogoVar
ASNS_chr7_97846677_97877408	97872314	G G	GCGGGGCG others(7): Show GCGGGGCGCAGGGCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG02622.hp2 others(2): Show HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02809.hp2 HG02970.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0003c0012 a0001c0001 a0003c0005 a0003c0012	a0001c0001t0001 a0003c0005t0001 a0003c0012t0001 a0001c0001t0001 a0003c0005t0001 a0003c0012t0001	a0001c0001t0001g0223 a0003c0005t0001g0059 a0003c0005t0001g0224 others(1): Show a0001c0001t0001g0223 a0003c0005t0001g0059 a0003c0005t0001g0224 a0003c0012t0001g0225	5	436	0.0115	14	c.-60 others(27): Show c.-60+23_-60+36dupTGCCCTGCGCCCCG	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	1/12			chr7	TogoVar
ASPA_chr17_3470997_3508405	3471540	C C	CACACACC others(7): Show CACACACCACCCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0319 a0001c0001t0006g0319	1	450	0.0022	14	c.-46 others(25): Show c.-4620_-4619insACACACCACCCACA	ASPA	ENSG00000108381.11	transcript	ENST00000263080.3	protein_coding		4456		chr17	TogoVar
ASPDH_chr19_50506603_50518913	50510051	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	372	0.0027	14	c.16 others(25): Show c.1665_*1678dupTTTTTTTTTTTTTT	ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding		1551		chr19	TogoVar
ASPHD2_chr22_26424260_26450015	26438510	T T	TACATACA others(7): Show TACATACATATATAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp1 HG01175.hp2 others(24): Show HG00741.hp2 HG01168.hp1 HG01175.hp2 HG02004.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG06807.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 others(6): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031	a0001c0001t0007g0013 a0001c0001t0007g0023 a0001c0001t0007g0134 others(15): Show a0001c0001t0007g0013 a0001c0001t0007g0023 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0136 a0001c0001t0007g0137 a0001c0001t0007g0138 a0001c0001t0007g0139 a0001c0001t0007g0152 a0001c0001t0014g0016 a0001c0001t0019g0023 a0001c0001t0023g0016 a0001c0001t0023g0164 a0001c0001t0024g0049 a0001c0001t0025g0141 a0001c0001t0029g0013 a0001c0001t0030g0016 a0001c0001t0031g0147	27	428	0.0631	14	c.887 others(31): Show c.887-3936_887-3935insCACATACATATATA	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGGGTGTG others(7): Show GGGGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0078 a0001c0001t0001g0079	2	258	0.0078	14	c.176 others(33): Show c.1764+8371_1764+8372insACACACACACACCC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01981.hp1 HG02165.hp2 others(7): Show HG01517.hp2 HG01981.hp1 HG02165.hp2 HG02809.hp2 HG03491.hp2 HG04228.hp2 NA18955.hp1 NA18955.hp2 NA19001.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0024 a0001c0001t0001 a0001c0001t0016 a0001c0001t0024	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0105 others(7): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0105 a0001c0001t0001g0128 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0016g0099 a0001c0001t0024g0054	10	258	0.0388	14	c.176 others(33): Show c.1764+8358_1764+8371dupACACACACACACAC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61550442	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03098.hp1 HG02257.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0003 a0001c0006t0014g0004 a0001c0006t0014g0003 a0001c0006t0014g0004	2	258	0.0078	14	c.162 others(33): Show c.1627-2248_1627-2235dupGTGTGTGTGTGTGT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	20/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61562389	C C	CTCTGTGT others(7): Show CTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01081.hp1 others(27): Show HG00621.hp1 HG00621.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01517.hp2 HG01975.hp2 HG02148.hp1 HG02293.hp2 HG02615.hp1 HG02723.hp2 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG04204.hp1 NA18940.hp2 NA18949.hp2 NA18955.hp2 NA18959.hp1 NA18970.hp1 NA18972.hp2 NA18977.hp2 NA19002.hp1 NA19006.hp2 NA19010.hp2 NA19012.hp2 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0024 a0001c0001t0028 a0004c0009t0031	a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0047 others(27): Show a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0116 a0001c0001t0001g0163 a0001c0001t0001g0177 a0001c0001t0004g0201 a0001c0001t0004g0210 a0001c0001t0004g0213 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0006g0041 a0001c0001t0007g0184 a0001c0001t0015g0008 a0001c0001t0024g0054 a0001c0001t0028g0055 a0004c0009t0031g0253	30	258	0.1163	14	c.143 others(31): Show c.1437+354_1437+355insCACACACACACAGA	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61590550	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03579.hp2 HG02976.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0073 a0002c0003t0002g0074	2	258	0.0078	14	c.977 others(31): Show c.977-6535_977-6522dupCACACACACACACA	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	14/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGAGAG others(7): Show AGAGAGAGAGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02809.hp1 HG01192.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0017 a0001c0001t0010g0016 a0001c0001t0005g0017 a0001c0001t0010g0016	2	258	0.0078	14	c.-49 others(25): Show c.-4924_-4923insACACACTCTCTCTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGAGAG others(7): Show AGAGAGAGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	258	0.0039	14	c.-49 others(25): Show c.-4924_-4923insACACACACTCTCTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGAGTG others(7): Show AGAGAGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01192.hp1 HG01517.hp2 others(14): Show HG01167.hp1 HG01192.hp1 HG01517.hp2 HG02074.hp1 HG02165.hp2 HG02300.hp1 HG03017.hp2 HG03491.hp2 HG04115.hp2 NA18955.hp2 NA18966.hp1 NA18970.hp1 NA18972.hp2 NA18979.hp1 NA19054.hp2 NA19088.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0001t0028 a0001c0002t0002	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(14): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0002g0058 a0001c0001t0024g0054 a0001c0001t0028g0055 a0001c0002t0002g0051 a0001c0002t0002g0059 a0001c0002t0002g0070 a0001c0002t0002g0091	17	258	0.0659	14	c.-49 others(25): Show c.-4924_-4923insACACACACACTCTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPH_chr8_61495556_61719592	61719294	A A	AGAGTGTG others(7): Show AGAGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG03490.hp2 NA19043.hp2 HG02895.hp2 HG03490.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0002 a0001c0002t0020 a0001c0001t0007 a0001c0002t0002 a0001c0002t0020	a0001c0001t0007g0179 a0001c0002t0002g0034 a0001c0002t0020g0011 a0001c0001t0007g0179 a0001c0002t0002g0034 a0001c0002t0020g0011	3	258	0.0116	14	c.-49 others(25): Show c.-4924_-4923insACACACACACACTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPM_chr1_197079127_197151669	197145845	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0004 a0006c0013t0004	a0006c0013t0004g0047 a0006c0013t0004g0047	1	296	0.0034	14	c.297 others(29): Show c.297+282_297+295dupATATATATATATAT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	1/27			chr1	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02965.hp1 HG03130.hp1 HG02486.hp2 HG02965.hp1 HG03130.hp1	a0002 a0004 a0014 a0002 a0004 a0014	a0002c0002 a0004c0012 a0014c0024 a0002c0002 a0004c0012 a0014c0024	a0002c0002t0001 a0004c0012t0002 a0014c0024t0004 a0002c0002t0001 a0004c0012t0002 a0014c0024t0004	a0002c0002t0001g0153 a0004c0012t0002g0069 a0014c0024t0004g0091 a0002c0002t0001g0153 a0004c0012t0002g0069 a0014c0024t0004g0091	3	296	0.0101	14	c.-18 others(25): Show c.-1897_-1896insTTTTTTTTTTTTTT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		1665		chr1	TogoVar
ASPSCR1_chr17_81972629_82022406	81983480	G G	GGGATGGC others(7): Show GGGATGGCGGGGCGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp2 HG01074.hp2 others(57): Show HG00621.hp2 HG01070.hp2 HG01074.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01346.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18943.hp2 NA18948.hp1 NA18951.hp2 NA18975.hp2 NA18977.hp2 NA18998.hp2 NA18999.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19043.hp1 NA19056.hp2 NA19064.hp2 NA19081.hp1 NA19088.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0014 a0001c0017 a0001c0024 a0004c0010 a0004c0015 a0005c0009	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(7): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0008t0002 a0001c0014t0001 a0001c0017t0001 a0001c0024t0001 a0004c0010t0001 a0004c0015t0001 a0005c0009t0001	a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 others(50): Show a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0314 a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0174 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0008t0002g0009 a0001c0008t0002g0211 a0001c0008t0002g0212 a0001c0008t0002g0213 a0001c0014t0001g0185 a0001c0014t0001g0214 a0001c0017t0001g0169 a0001c0024t0001g0149 a0004c0010t0001g0148 a0004c0010t0001g0154 a0004c0010t0001g0157 a0004c0010t0001g0158 a0004c0015t0001g0023 a0005c0009t0001g0152	60	366	0.1639	14	c.159 others(27): Show c.159-66_159-53dupGGGGCGTGGATGGC	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
ASRGL1_chr11_62332448_62398412	62362631	A A	ATATATAA others(7): Show ATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00673.hp2 others(27): Show HG00438.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG02027.hp1 HG02080.hp1 HG02132.hp1 HG02300.hp1 HG03130.hp2 NA18942.hp2 NA18951.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18975.hp2 NA18994.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19062.hp1 NA19080.hp1 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0204 a0001c0001t0002g0187 a0001c0001t0002g0188 others(27): Show a0001c0001t0001g0204 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0014g0212	30	370	0.0811	14	c.491 others(31): Show c.491+5493_491+5494insATATATATTATATA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362638	T T	TTATATAT others(7): Show TTATATATTATATAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	370	0.0027	14	c.491 others(31): Show c.491+5494_491+5495insTATATATTATATAA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6			chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362813	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(48): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG01496.hp2 HG01943.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02738.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03834.hp1 HG03834.hp2 NA18906.hp2 NA18948.hp2 NA18960.hp1 NA18967.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA19030.hp1 NA19060.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19080.hp2 NA19090.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0002t0003 a0001c0003t0001 a0001c0008t0001 a0002c0004t0035	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 others(48): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0002g0056 a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0039 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0146 a0001c0001t0003g0158 a0001c0001t0003g0161 a0001c0001t0003g0165 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0018g0110 a0001c0001t0023g0137 a0001c0001t0024g0031 a0001c0001t0027g0166 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0294 a0001c0002t0003g0303 a0001c0003t0001g0090 a0001c0008t0001g0011 a0002c0004t0035g0183	51	370	0.1378	14	c.491 others(31): Show c.491+5687_491+5700dupCACACACACACACA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62375428	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA18939.hp1 NA19090.hp1 HG01358.hp2 NA18939.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0189 a0001c0001t0002g0246 a0001c0001t0029g0106 a0001c0001t0002g0189 a0001c0001t0002g0246 a0001c0001t0029g0106	3	370	0.0081	14	c.492 others(33): Show c.492-13665_492-13652dupATATATATATATAT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62383602	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG02135.hp2 others(6): Show HG00738.hp2 HG01167.hp1 HG02135.hp2 HG02818.hp1 NA18967.hp1 NA18977.hp1 NA18980.hp1 NA18998.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0130 others(6): Show a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0162 a0001c0001t0003g0173 a0001c0001t0003g0182 a0001c0002t0003g0292 a0001c0002t0003g0301 a0001c0002t0003g0302	9	370	0.0243	14	c.492 others(31): Show c.492-5518_492-5505dupAAAAAAAAAAAAAA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASS1_chr9_130439961_130506274	130448422	G G	GCGCACAC others(7): Show GCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG02723.hp1 others(4): Show HG01891.hp2 HG02717.hp1 HG02723.hp1 HG03041.hp1 HG03139.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 others(4): Show a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0003t0001g0346	7	374	0.0187	14	c.-6+ others(29): Show c.-6+3428_-6+3429insGCACACACACACAC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130495444	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	374	0.0027	14	c.112 others(31): Show c.1127+425_1127+438dupTATATATATATATA	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130495470	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18612.hp2 HG03654.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0320 a0001c0001t0001g0273 a0001c0001t0001g0320	2	374	0.0054	14	c.112 others(31): Show c.1127+448_1127+449insCACACACACACACA	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130495472	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02683.hp2 NA18974.hp1 others(1): Show HG00280.hp2 HG02683.hp2 NA18974.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0157 a0001c0001t0001g0237 a0001c0001t0001g0341 others(1): Show a0001c0001t0001g0157 a0001c0001t0001g0237 a0001c0001t0001g0341 a0001c0002t0001g0316	4	374	0.0107	14	c.112 others(31): Show c.1127+465_1127+478dupCACACACACACACA	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTN1_chr1_176856067_177169712	176922556	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG04115.hp2 NA18522.hp1 others(1): Show HG03098.hp1 HG04115.hp2 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0002 a0001c0006t0002 a0001c0003t0002 a0001c0006t0002	a0001c0003t0002g0064 a0001c0003t0002g0079 a0001c0003t0002g0081 others(1): Show a0001c0003t0002g0064 a0001c0003t0002g0079 a0001c0003t0002g0081 a0001c0006t0002g0037	4	112	0.0357	14	c.267 others(35): Show c.2671+11582_2671+11595dupTTTTTTTTTTTTTT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	16/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176942820	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	112	0.0089	14	c.237 others(33): Show c.2377+1070_2377+1071insTATATATATATACA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176942866	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA20300.hp2 HG02895.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0050 a0001c0002t0002g0070 a0001c0001t0001g0050 a0001c0002t0002g0070	2	112	0.0179	14	c.237 others(33): Show c.2377+1024_2377+1025insAATATATATATATA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176994025	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02965.hp2 HG03098.hp1 others(1): Show HG01978.hp2 HG02965.hp2 HG03098.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0018 a0001c0003t0002 a0001c0003t0019 a0001c0001t0018 a0001c0003t0002 a0001c0003t0019	a0001c0001t0018g0054 a0001c0003t0002g0018 a0001c0003t0002g0064 others(1): Show a0001c0001t0018g0054 a0001c0003t0002g0018 a0001c0003t0002g0064 a0001c0003t0019g0073	4	112	0.0357	14	c.152 others(35): Show c.1523+20765_1523+20766insTACACACACACACA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	8/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177033123	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 NA18522.hp2 HG02922.hp2 HG02976.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0011 a0001c0002 a0001c0005 a0002c0011	a0001c0002t0002 a0001c0005t0005 a0002c0011t0009 a0001c0002t0002 a0001c0005t0005 a0002c0011t0009	a0001c0002t0002g0053 a0001c0005t0005g0059 a0002c0011t0009g0003 a0001c0002t0002g0053 a0001c0005t0005g0059 a0002c0011t0009g0003	3	112	0.0268	14	c.472 others(29): Show c.472-288_472-275dupCACACACACACACA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	2/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116439194	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	102	0.0098	14	c.378 others(33): Show c.3782+1401_3782+1414dupAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	22/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116446262	G G	GAGAGAGA others(7): Show GAGAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01934.hp1 homoSapiens_chm13v2.hp1 HG01515.hp2 HG01934.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0016 a0001c0002 a0003c0016	a0001c0002t0004 a0003c0016t0004 a0001c0002t0004 a0003c0016t0004	a0001c0002t0004g0047 a0001c0002t0004g0091 a0003c0016t0004g0027 a0001c0002t0004g0047 a0001c0002t0004g0091 a0003c0016t0004g0027	3	102	0.0294	14	c.349 others(33): Show c.3498-3710_3498-3709insATCTCTCTCTCTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116446272	T T	TAGAGAGA others(7): Show TAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	102	0.0098	14	c.349 others(33): Show c.3498-3733_3498-3720dupCTCTCTCTCTCTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116490272	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG01891.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0016 a0001c0007t0001 a0001c0001t0016 a0001c0007t0001	a0001c0001t0016g0075 a0001c0007t0001g0010 a0001c0001t0016g0075 a0001c0007t0001g0010	2	102	0.0196	14	c.335 others(33): Show c.3356-2786_3356-2773dupTTTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565351	T T	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0044 a0001c0003t0002g0044	1	102	0.0098	14	c.335 others(35): Show c.3355+52959_3355+52972dupGAGAGAGAGAGAGA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565387	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19030.hp2 HG01884.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0079 a0001c0001t0011g0002 a0001c0001t0006g0079 a0001c0001t0011g0002	2	102	0.0196	14	c.335 others(35): Show c.3355+52936_3355+52937insTAGAGAGAGAGAGA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116586812	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01169.hp2 others(7): Show HG00639.hp2 HG01081.hp2 HG01169.hp2 HG01934.hp1 HG02004.hp2 HG03239.hp2 HG04199.hp1 NA18959.hp1 NA19010.hp1 NA19012.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0003c0019	a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 others(4): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0010t0001 a0001c0010t0004 a0003c0019t0002	a0001c0001t0004g0060 a0001c0002t0001g0042 a0001c0002t0001g0057 others(7): Show a0001c0001t0004g0060 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0003g0068 a0001c0002t0004g0043 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0010t0001g0102 a0001c0010t0004g0009 a0003c0019t0002g0025	10	102	0.0980	14	c.335 others(35): Show c.3355+31498_3355+31511dupTGTGTGTGTGTGTG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116586833	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19030.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0006 a0001c0001t0006 a0001c0003t0006	a0001c0001t0006g0079 a0001c0003t0006g0017 a0001c0001t0006g0079 a0001c0003t0006g0017	2	102	0.0196	14	c.335 others(35): Show c.3355+31490_3355+31491insATGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116586837	C C	CACACACA others(7): Show CACACACACATACAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	102	0.0098	14	c.335 others(35): Show c.3355+31486_3355+31487insATGTATGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116608610	G G	GTTTGAAC others(7): Show GTTTGAACAAAATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01109.hp1 others(13): Show HG00639.hp1 HG00735.hp1 HG01109.hp1 HG01169.hp1 HG01243.hp2 HG02109.hp2 HG02572.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0011 a0001c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0007t0001 a0001c0008t0005 a0001c0011t0004 a0001c0014t0017	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0100 others(13): Show a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0100 a0001c0001t0005g0035 a0001c0001t0006g0016 a0001c0002t0001g0033 a0001c0002t0001g0093 a0001c0003t0001g0055 a0001c0003t0004g0085 a0001c0003t0005g0082 a0001c0007t0001g0010 a0001c0007t0001g0011 a0001c0008t0005g0073 a0001c0008t0005g0081 a0001c0011t0004g0097 a0001c0014t0017g0050	16	102	0.1569	14	c.335 others(33): Show c.3355+9713_3355+9714insATATTTTGTTCAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116609379	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp2 HG01258.hp1 others(7): Show HG00099.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG02698.hp1 HG03130.hp1 NA19010.hp2 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0021 a0005c0015	a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0001c0003t0003 a0001c0021t0006 a0005c0015t0003	a0001c0001t0003g0063 a0001c0002t0002g0023 a0001c0002t0002g0053 others(7): Show a0001c0001t0003g0063 a0001c0002t0002g0023 a0001c0002t0002g0053 a0001c0002t0003g0041 a0001c0002t0003g0066 a0001c0002t0004g0029 a0001c0003t0002g0044 a0001c0003t0003g0030 a0001c0021t0006g0056 a0005c0015t0003g0019	10	102	0.0980	14	c.335 others(33): Show c.3355+8931_3355+8944dupTATATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116632128	A A	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG04199.hp1 NA19065.hp2 HG03017.hp2 HG04199.hp1 NA19065.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0023 a0003c0019 a0001c0001 a0001c0023 a0003c0019	a0001c0001t0008 a0001c0023t0002 a0003c0019t0002 a0001c0001t0008 a0001c0023t0002 a0003c0019t0002	a0001c0001t0008g0008 a0001c0023t0002g0069 a0003c0019t0002g0025 a0001c0001t0008g0008 a0001c0023t0002g0069 a0003c0019t0002g0025	3	102	0.0294	14	c.307 others(35): Show c.3073-11699_3073-11686dupCTCTCTCTCTCTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803522	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0003 a0005c0015t0003	a0005c0015t0003g0019 a0005c0015t0003g0019	1	102	0.0098	14	c.239 others(33): Show c.2396+2109_2396+2110insAAAATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116805109	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03209.hp2 NA20129.hp2 HG01099.hp1 HG03209.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0001t0006 a0001c0017t0002 a0001c0001t0001 a0001c0001t0006 a0001c0017t0002	a0001c0001t0001g0099 a0001c0001t0006g0016 a0001c0017t0002g0089 a0001c0001t0001g0099 a0001c0001t0006g0016 a0001c0017t0002g0089	3	102	0.0294	14	c.239 others(31): Show c.2396+509_2396+522dupACACACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116815804	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01099.hp1 others(17): Show HG00099.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01256.hp1 HG01261.hp2 HG01884.hp2 HG02004.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03540.hp2 NA19010.hp2 NA19065.hp2 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0011 a0001c0014 a0001c0017 a0001c0025 a0002c0004 a0005c0015 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0002t0004 a0001c0003t0006 a0001c0010t0004 a0001c0011t0004 a0001c0014t0017 a0001c0017t0002 a0001c0025t0001 a0002c0004t0002 a0002c0004t0006 a0005c0015t0003 a0007c0018t0003	a0001c0001t0001g0054 a0001c0001t0001g0100 a0001c0001t0002g0018 others(17): Show a0001c0001t0001g0054 a0001c0001t0001g0100 a0001c0001t0002g0018 a0001c0001t0002g0051 a0001c0001t0004g0060 a0001c0001t0005g0035 a0001c0001t0005g0096 a0001c0001t0007g0087 a0001c0001t0008g0008 a0001c0002t0004g0062 a0001c0003t0006g0026 a0001c0010t0004g0009 a0001c0011t0004g0097 a0001c0014t0017g0050 a0001c0017t0002g0089 a0001c0025t0001g0080 a0002c0004t0002g0005 a0002c0004t0006g0003 a0005c0015t0003g0019 a0007c0018t0003g0031	20	102	0.1961	14	c.220 others(33): Show c.2207+4799_2207+4812dupTTTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	12/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116933979	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0097 a0001c0011t0004g0097	1	102	0.0098	14	c.188 others(35): Show c.1889+41215_1889+41228dupAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116948785	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0082 a0001c0003t0005g0082	1	102	0.0098	14	c.188 others(35): Show c.1889+26409_1889+26422dupAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116964265	G G	GCGCGCGC others(7): Show GCGCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0002 a0003c0019t0002	a0003c0019t0002g0025 a0003c0019t0002g0025	1	102	0.0098	14	c.188 others(35): Show c.1889+10942_1889+10943insTGCGCGCGCGCGCG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116978495	G G	GCGCACAC others(7): Show GCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0039 a0006c0020t0001g0039	1	102	0.0098	14	c.159 others(33): Show c.1592-1711_1592-1710insTGTGTGTGTGTGCG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar

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