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
ASPH_chr8_61495556_61719592	61719294	A A	AGAGAGTG others(3): Show AGAGAGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03239.hp1 HG02922.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0186 a0001c0001t0001g0068 a0001c0001t0001g0186	2	258	0.0078	10	c.-49 others(21): Show c.-4924_-4923insACACACTCTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding		4703		chr8	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01081.hp1 HG01099.hp1 others(11): Show HG01069.hp2 HG01081.hp1 HG01099.hp1 HG02071.hp2 HG02148.hp1 HG02258.hp1 HG02622.hp1 HG03471.hp2 HG03710.hp2 HG04184.hp1 NA18964.hp1 NA18980.hp2 NA18987.hp2 NA18988.hp2	a0002 a0004 a0012 a0002 a0004 a0012	a0002c0002 a0002c0040 a0004c0007 others(1): Show a0002c0002 a0002c0040 a0004c0007 a0012c0009	a0002c0002t0001 a0002c0040t0001 a0004c0007t0002 others(1): Show a0002c0002t0001 a0002c0040t0001 a0004c0007t0002 a0012c0009t0002	a0002c0002t0001g0003 a0002c0002t0001g0140 a0002c0002t0001g0141 others(9): Show a0002c0002t0001g0003 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0146 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0002t0001g0168 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0040t0001g0151 a0004c0007t0002g0021 a0012c0009t0002g0044	14	296	0.0473	10	c.-18 others(21): Show c.-1897_-1896insTTTTTTTTTT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		1665		chr1	TogoVar
ASRGL1_chr11_62332448_62398412	62357224	C C	CTTTTGTT others(3): Show CTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(155): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18953.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA18975.hp2 NA18982.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19082.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0027 a0001c0001t0031 a0001c0001t0033 a0001c0001t0039 a0001c0002t0003 a0001c0008t0001 a0004c0010t0036	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(155): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0204 a0001c0001t0001g0368 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0245 a0001c0001t0002g0251 a0001c0001t0002g0255 a0001c0001t0002g0263 a0001c0001t0002g0282 a0001c0001t0003g0164 a0001c0001t0003g0176 a0001c0001t0003g0182 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0005g0361 a0001c0001t0006g0262 a0001c0001t0007g0316 a0001c0001t0007g0320 a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0332 a0001c0001t0007g0334 a0001c0001t0008g0318 a0001c0001t0008g0321 a0001c0001t0008g0326 a0001c0001t0008g0327 a0001c0001t0008g0328 a0001c0001t0008g0331 a0001c0001t0012g0194 a0001c0001t0012g0195 a0001c0001t0013g0049 a0001c0001t0013g0059 a0001c0001t0013g0062 a0001c0001t0013g0063 a0001c0001t0014g0212 a0001c0001t0016g0040 a0001c0001t0017g0029 a0001c0001t0017g0037 a0001c0001t0018g0077 a0001c0001t0018g0110 a0001c0001t0024g0031 a0001c0001t0027g0166 a0001c0001t0031g0016 a0001c0001t0033g0333 a0001c0001t0039g0342 a0001c0002t0003g0291 a0001c0008t0001g0011 a0004c0010t0036g0319	158	370	0.4270	10	c.491 others(25): Show c.491+114_491+123dupTGTTTTGTTT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62361195	T T	TTTTTTTT others(3): Show TTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	370	0.0027	10	c.491 others(27): Show c.491+4057_491+4058insTTTGTTTTTT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362813	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01167.hp2 others(14): Show HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01975.hp2 HG02572.hp2 HG02723.hp2 HG02818.hp1 HG03098.hp1 HG03654.hp1 HG03710.hp1 NA18612.hp2 NA18939.hp1 NA18946.hp1 NA18983.hp1 NA19000.hp1 NA19074.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 a0001c0001 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 a0001c0001t0029 a0001c0006t0022 a0002c0004t0034	a0001c0001t0001g0013 a0001c0001t0001g0053 a0001c0001t0001g0068 others(14): Show a0001c0001t0001g0013 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0101 a0001c0001t0001g0118 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0176 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0025g0145 a0001c0001t0029g0106 a0001c0006t0022g0160 a0002c0004t0034g0184	17	370	0.0460	10	c.491 others(27): Show c.491+5691_491+5700dupCACACACACA	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(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp2 HG01256.hp2 others(9): Show HG01123.hp2 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG03139.hp1 HG03209.hp2 NA18959.hp1 NA18962.hp2 NA18989.hp1 NA19081.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010	a0001c0001t0002g0056 a0001c0001t0002g0209 a0001c0001t0002g0213 others(9): Show a0001c0001t0002g0056 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0003g0162 a0001c0001t0003g0168 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0186 a0001c0001t0005g0366 a0001c0001t0008g0321 a0001c0001t0010g0349	12	370	0.0324	10	c.492 others(29): Show c.492-13661_492-13652dupATATATATAT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62384017	T T	TGTGTGTG others(3): Show TGTGTGTGCAC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	370	0.0027	10	c.492 others(27): Show c.492-5107_492-5098dupACGTGTGTGC	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(3): Show GCGCACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(112): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02280.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03492.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18993.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19078.hp2 NA19080.hp2 NA19084.hp1 NA19090.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0005c0009 a0007c0012	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0005c0009t0001 a0007c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(108): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0317 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0354 a0001c0001t0003g0306 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0279 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0305 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0005t0001g0288 a0001c0007t0001g0260 a0005c0009t0001g0297 a0005c0009t0001g0298 a0007c0012t0001g0265	115	374	0.3075	10	c.-6+ others(25): Show c.-6+3428_-6+3429insGCACACACAC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130448422	G G	GCGCGCAC others(3): Show GCGCGCACACA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18957.hp2 NA18945.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0313 a0001c0001t0001g0314	2	374	0.0054	10	c.-6+ others(25): Show c.-6+3428_-6+3429insGCGCACACAC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130495470	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00733.hp2 others(37): Show HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01106.hp1 HG01168.hp1 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01943.hp1 HG02027.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02523.hp1 HG02698.hp2 HG03239.hp1 HG03688.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 NA18943.hp2 NA18945.hp2 NA18954.hp2 NA18962.hp1 NA18971.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18993.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19070.hp1 NA19086.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0001c0002 a0003c0008 others(2): Show a0001c0001 a0001c0002 a0003c0008 a0005c0009 a0007c0012	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0003c0008t0001 a0005c0009t0001 a0007c0012t0001	a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0021 others(36): Show a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0115 a0001c0001t0001g0137 a0001c0001t0001g0160 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0296 a0001c0001t0001g0302 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0002t0001g0177 a0001c0002t0002g0176 a0003c0008t0001g0197 a0005c0009t0001g0297 a0005c0009t0001g0298 a0007c0012t0001g0265	40	374	0.1070	10	c.112 others(27): Show c.1127+448_1127+449insCACACACACA	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTE1_chr3_131008875_131031825	131015099	C C	CCAATTAG others(3): Show CCAATTAGTCT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	404	0.0025	10	c.171 others(27): Show c.1710-722_1710-713dupAGACTAATTG	ASTE1	ENSG00000034533.12	transcript	ENST00000264992.8	protein_coding	5/5			chr3	TogoVar
ASTN1_chr1_176856067_177169712	176942820	G G	GTGTATAT others(3): Show GTGTATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03579.hp1 HG02809.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0002 a0001c0002t0011	a0001c0002t0002g0047 a0001c0002t0011g0009 a0001c0002t0002g0047 a0001c0002t0011g0009	2	112	0.0179	10	c.237 others(29): Show c.2377+1070_2377+1071insTATATATACA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176942866	A A	ATATATAT others(3): Show ATATATATATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02886.hp2 HG02896.hp2 HG00408.hp2 HG02886.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0007 a0001c0012t0004 a0001c0001t0001 a0001c0002t0007 a0001c0012t0004	a0001c0001t0001g0088 a0001c0002t0007g0082 a0001c0012t0004g0010 a0001c0001t0001g0088 a0001c0002t0007g0082 a0001c0012t0004g0010	3	112	0.0268	10	c.237 others(29): Show c.2377+1024_2377+1025insAATATATATA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176985845	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0006 a0003c0010t0006	a0003c0010t0006g0043 a0003c0010t0006g0043	1	112	0.0089	10	c.152 others(31): Show c.1524-20618_1524-20609dupGTGTGTGTGT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	8/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177033123	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp1 HG01071.hp1 others(12): Show HG00639.hp2 HG00673.hp1 HG01071.hp1 HG01123.hp1 HG01192.hp2 HG01255.hp2 HG01346.hp2 HG01993.hp1 HG02257.hp2 HG03041.hp1 HG03834.hp1 HG04204.hp1 NA18981.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0005 a0001c0006 a0002c0004 others(2): Show a0001c0005 a0001c0006 a0002c0004 a0002c0014 a0005c0013	a0001c0005t0004 a0001c0006t0010 a0002c0004t0003 others(2): Show a0001c0005t0004 a0001c0006t0010 a0002c0004t0003 a0002c0014t0009 a0005c0013t0001	a0001c0005t0004g0076 a0001c0005t0004g0077 a0001c0006t0010g0027 others(12): Show a0001c0005t0004g0076 a0001c0005t0004g0077 a0001c0006t0010g0027 a0002c0004t0003g0042 a0002c0004t0003g0057 a0002c0004t0003g0060 a0002c0004t0003g0061 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0092 a0002c0004t0003g0093 a0002c0004t0003g0095 a0002c0004t0003g0103 a0002c0014t0009g0078 a0005c0013t0001g0001	15	112	0.1339	10	c.472 others(25): Show c.472-284_472-275dupCACACACACA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	2/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116446266	G G	GAGAGAGA others(3): Show GAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG04199.hp1 NA19012.hp1 HG02004.hp2 HG04199.hp1 NA19012.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0010 a0003c0019 a0001c0002 a0001c0010 a0003c0019	a0001c0002t0004 a0001c0010t0004 a0003c0019t0002 a0001c0002t0004 a0001c0010t0004 a0003c0019t0002	a0001c0002t0004g0043 a0001c0010t0004g0009 a0003c0019t0002g0025 a0001c0002t0004g0043 a0001c0010t0004g0009 a0003c0019t0002g0025	3	102	0.0294	10	c.349 others(29): Show c.3498-3714_3498-3713insATCTCTCTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116446272	T T	TAGAGAGA others(3): Show TAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0002 a0001c0023t0002	a0001c0023t0002g0069 a0001c0023t0002g0069	1	102	0.0098	10	c.349 others(29): Show c.3498-3729_3498-3720dupCTCTCTCTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116478991	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp1 NA19030.hp2 HG01109.hp2 HG02572.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 a0001c0001 a0001c0003 a0001c0013	a0001c0001t0006 a0001c0003t0006 a0001c0013t0009 a0001c0001t0006 a0001c0003t0006 a0001c0013t0009	a0001c0001t0006g0079 a0001c0003t0006g0026 a0001c0013t0009g0072 a0001c0001t0006g0079 a0001c0003t0006g0026 a0001c0013t0009g0072	3	102	0.0294	10	c.349 others(29): Show c.3497+8358_3497+8367dupTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116490272	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	102	0.0098	10	c.335 others(29): Show c.3356-2782_3356-2773dupTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116549889	T T	TATTAAAA others(3): Show TATTAAAAGTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01109.hp1 others(17): Show HG00639.hp1 HG00735.hp1 HG01109.hp1 HG01169.hp1 HG01243.hp2 HG01884.hp2 HG02109.hp2 HG02572.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03209.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0011 a0001c0014 a0001c0025	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0007t0001 a0001c0008t0005 a0001c0011t0004 a0001c0014t0017 a0001c0025t0001	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0095 others(17): Show a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0005g0035 a0001c0001t0006g0016 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0093 a0001c0003t0001g0055 a0001c0003t0004g0085 a0001c0003t0005g0082 a0001c0007t0001g0010 a0001c0007t0001g0011 a0001c0008t0005g0073 a0001c0008t0005g0081 a0001c0011t0004g0097 a0001c0014t0017g0050 a0001c0025t0001g0080	20	102	0.1961	10	c.335 others(31): Show c.3356-62399_3356-62390dupTACTTTTAAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565351	T T	TTCTCTCT others(3): Show TTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 HG03041.hp2 others(1): Show HG01891.hp1 HG02572.hp1 HG03041.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0022 a0001c0001 a0001c0013 a0001c0022	a0001c0001t0006 a0001c0001t0016 a0001c0013t0009 others(1): Show a0001c0001t0006 a0001c0001t0016 a0001c0013t0009 a0001c0022t0001	a0001c0001t0006g0014 a0001c0001t0016g0075 a0001c0013t0009g0072 others(1): Show a0001c0001t0006g0014 a0001c0001t0016g0075 a0001c0013t0009g0072 a0001c0022t0001g0020	4	102	0.0392	10	c.335 others(31): Show c.3355+52963_3355+52972dupGAGAGAGAGA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565387	C C	CTCTCTCT others(3): Show CTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA20300.hp1 HG03471.hp2 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0005 a0002c0004t0001 a0002c0004t0005	a0002c0004t0001g0004 a0002c0004t0005g0006 a0002c0004t0001g0004 a0002c0004t0005g0006	2	102	0.0196	10	c.335 others(31): Show c.3355+52936_3355+52937insTATAGAGAGA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565423	A A	ATTTATTT others(3): Show ATTTATTTATT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0017 a0001c0003t0006g0017	1	102	0.0098	10	c.335 others(31): Show c.3355+52900_3355+52901insAATAAATAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565427	A A	ATATATAT others(3): Show ATATATATATT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	102	0.0098	10	c.335 others(31): Show c.3355+52896_3355+52897insAATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565427	A A	ATTTATTT others(3): Show ATTTATTTATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03471.hp1 HG01109.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0015 a0001c0003t0006 a0001c0001t0015 a0001c0003t0006	a0001c0001t0015g0045 a0001c0003t0006g0026 a0001c0001t0015g0045 a0001c0003t0006g0026	2	102	0.0196	10	c.335 others(31): Show c.3355+52896_3355+52897insAATAAATAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116586835	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01261.hp2 others(3): Show HG00099.hp1 HG01099.hp2 HG01261.hp2 NA18959.hp2 NA19010.hp2 NA20752.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0005c0015 a0007c0018	a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 others(2): Show a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 a0005c0015t0003 a0007c0018t0003	a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0002t0003g0021 others(3): Show a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0002t0003g0021 a0001c0003t0003g0030 a0005c0015t0003g0019 a0007c0018t0003g0031	6	102	0.0588	10	c.335 others(31): Show c.3355+31488_3355+31489insATGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116586839	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03017.hp2 HG03239.hp1 others(2): Show HG02698.hp2 HG03017.hp2 HG03239.hp1 NA19065.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0023	a0001c0001t0008 a0001c0002t0008 a0001c0009t0008 others(1): Show a0001c0001t0008 a0001c0002t0008 a0001c0009t0008 a0001c0023t0002	a0001c0001t0008g0008 a0001c0001t0008g0065 a0001c0002t0008g0024 others(2): Show a0001c0001t0008g0008 a0001c0001t0008g0065 a0001c0002t0008g0024 a0001c0009t0008g0088 a0001c0023t0002g0069	5	102	0.0490	10	c.335 others(31): Show c.3355+31484_3355+31485insATGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116597299	A A	ATTTTTGT others(3): Show ATTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01099.hp1 others(9): Show HG00099.hp2 HG00639.hp2 HG01099.hp1 HG01256.hp1 HG01515.hp1 HG01934.hp1 HG02004.hp2 HG02896.hp2 HG02965.hp1 HG03239.hp2 NA18959.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0006t0002 a0001c0010t0001 a0001c0010t0004 a0001c0017t0002	a0001c0001t0001g0054 a0001c0001t0002g0018 a0001c0002t0001g0057 others(9): Show a0001c0001t0001g0054 a0001c0001t0002g0018 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0003g0068 a0001c0002t0004g0043 a0001c0002t0004g0062 a0001c0002t0004g0091 a0001c0006t0002g0012 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0017t0002g0089	12	102	0.1177	10	c.335 others(31): Show c.3355+21024_3355+21025insAAAACAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116609324	C C	CTATATAT others(3): Show CTATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02572.hp1 HG01081.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0009 a0001c0013t0009 a0001c0001t0009 a0001c0013t0009	a0001c0001t0009g0086 a0001c0013t0009g0072 a0001c0001t0009g0086 a0001c0013t0009g0072	2	102	0.0196	10	c.335 others(29): Show c.3355+8999_3355+9000insTATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116609328	C C	CTATATAT others(3): Show CTATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03139.hp2 HG03540.hp1 HG02615.hp1 HG03139.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0007 a0001c0003t0014 a0001c0001t0007 a0001c0003t0007 a0001c0003t0014	a0001c0001t0007g0078 a0001c0003t0007g0071 a0001c0003t0014g0083 a0001c0001t0007g0078 a0001c0003t0007g0071 a0001c0003t0014g0083	3	102	0.0294	10	c.335 others(29): Show c.3355+8986_3355+8995dupTATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116609379	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	102	0.0098	10	c.335 others(29): Show c.3355+8935_3355+8944dupTATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116632128	A A	AAGAGAGA others(3): Show AAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01256.hp1 others(2): Show HG00639.hp2 HG01081.hp2 HG01256.hp1 HG01934.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0054 a0001c0001t0004g0060 a0001c0002t0001g0057 others(2): Show a0001c0001t0001g0054 a0001c0001t0004g0060 a0001c0002t0001g0057 a0001c0002t0004g0043 a0001c0002t0004g0091	5	102	0.0490	10	c.307 others(31): Show c.3073-11695_3073-11686dupCTCTCTCTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116660168	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0029 a0001c0002t0004g0029	1	102	0.0098	10	c.280 others(29): Show c.2807-8385_2807-8376dupTGTGTGTGTG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116737610	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02896.hp1 HG03017.hp1 others(1): Show HG01243.hp2 HG02896.hp1 HG03017.hp1 NA19010.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0008 a0004c0024 a0001c0002 a0001c0008 a0004c0024	a0001c0002t0001 a0001c0008t0005 a0004c0024t0013 a0001c0002t0001 a0001c0008t0005 a0004c0024t0013	a0001c0002t0001g0033 a0001c0002t0001g0042 a0001c0008t0005g0073 others(1): Show a0001c0002t0001g0033 a0001c0002t0001g0042 a0001c0008t0005g0073 a0004c0024t0013g0101	4	102	0.0392	10	c.239 others(29): Show c.2397-4097_2397-4088dupACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116756770	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	102	0.0098	10	c.239 others(31): Show c.2397-23257_2397-23248dupGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116756800	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0012 a0001c0006t0002g0012	1	102	0.0098	10	c.239 others(31): Show c.2397-23287_2397-23278dupGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803522	A A	ATATATAT others(3): Show ATATATATTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0011 a0001c0007t0001g0011	1	102	0.0098	10	c.239 others(29): Show c.2396+2109_2396+2110insAAAATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803522	A A	ATATATTT others(3): Show ATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0083 a0001c0003t0014g0083	1	102	0.0098	10	c.239 others(29): Show c.2396+2109_2396+2110insAAAAAATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116805109	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01081.hp2 others(8): Show HG00639.hp2 HG00735.hp1 HG01081.hp2 HG01243.hp1 HG01515.hp1 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02922.hp1 HG03239.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(5): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0005t0005 a0001c0007t0001	a0001c0001t0004g0060 a0001c0001t0005g0035 a0001c0001t0008g0065 others(8): Show a0001c0001t0004g0060 a0001c0001t0005g0035 a0001c0001t0008g0065 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0002g0061 a0001c0002t0003g0041 a0001c0002t0003g0068 a0001c0005t0005g0007 a0001c0005t0005g0084 a0001c0007t0001g0011	11	102	0.1078	10	c.239 others(27): Show c.2396+513_2396+522dupACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116815804	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01169.hp1 others(8): Show HG00099.hp1 HG01099.hp2 HG01169.hp1 HG01243.hp1 HG01934.hp2 HG02559.hp2 HG02698.hp1 HG02698.hp2 HG03209.hp1 NA18959.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0012 a0001c0010t0001	a0001c0001t0001g0034 a0001c0001t0002g0070 a0001c0001t0003g0063 others(8): Show a0001c0001t0001g0034 a0001c0001t0002g0070 a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0001t0008g0065 a0001c0002t0001g0042 a0001c0002t0002g0061 a0001c0002t0003g0041 a0001c0002t0004g0029 a0001c0003t0012g0001 a0001c0010t0001g0102	11	102	0.1078	10	c.220 others(29): Show c.2207+4803_2207+4812dupTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	12/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116815816	A A	AAAAAAAA others(3): Show AAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0086 a0001c0001t0009g0086	1	102	0.0098	10	c.220 others(29): Show c.2207+4800_2207+4801insGTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	12/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116852878	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01496.hp1 HG01891.hp1 others(7): Show HG01081.hp1 HG01496.hp1 HG01891.hp1 HG02572.hp2 HG02896.hp2 HG03540.hp2 NA18906.hp1 NA18959.hp1 NA19043.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0009 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0003t0002 a0001c0003t0006 a0001c0006t0002 a0001c0009t0004 a0001c0010t0001 a0001c0011t0004	a0001c0001t0001g0095 a0001c0001t0005g0096 a0001c0001t0009g0086 others(7): Show a0001c0001t0001g0095 a0001c0001t0005g0096 a0001c0001t0009g0086 a0001c0001t0016g0075 a0001c0003t0002g0044 a0001c0003t0006g0017 a0001c0006t0002g0012 a0001c0009t0004g0032 a0001c0010t0001g0102 a0001c0011t0004g0097	10	102	0.0980	10	c.204 others(31): Show c.2040+10695_2040+10704dupGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116862807	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18906.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0014 a0001c0003t0006 a0001c0003t0014	a0001c0003t0006g0017 a0001c0003t0014g0083 a0001c0003t0006g0017 a0001c0003t0014g0083	2	102	0.0196	10	c.204 others(27): Show c.2040+766_2040+775dupGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116948785	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02809.hp2 HG01081.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0015 a0001c0001t0009g0086 a0001c0001t0001g0015 a0001c0001t0009g0086	2	102	0.0196	10	c.188 others(31): Show c.1889+26413_1889+26422dupAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116951337	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	102	0.0098	10	c.188 others(31): Show c.1889+23861_1889+23870dupTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116964256	T T	TGTGCGCG others(3): Show TGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp2 HG01496.hp1 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0025 a0001c0003 a0001c0025	a0001c0003t0002 a0001c0025t0001 a0001c0003t0002 a0001c0025t0001	a0001c0003t0002g0044 a0001c0025t0001g0080 a0001c0003t0002g0044 a0001c0025t0001g0080	2	102	0.0196	10	c.188 others(31): Show c.1889+10951_1889+10952insGCGCGCGCAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116964265	G G	GCGCGCGC others(3): Show GCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG04199.hp2 NA20752.hp1 HG03540.hp1 HG04199.hp2 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0006c0020 a0001c0003 a0006c0020	a0001c0003t0003 a0001c0003t0014 a0006c0020t0001 a0001c0003t0003 a0001c0003t0014 a0006c0020t0001	a0001c0003t0003g0030 a0001c0003t0014g0083 a0006c0020t0001g0039 a0001c0003t0003g0030 a0001c0003t0014g0083 a0006c0020t0001g0039	3	102	0.0294	10	c.188 others(31): Show c.1889+10942_1889+10943insTGCGCGCGCG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116978491	T T	TCTCTCAC others(3): Show TCTCTCACGCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0017 a0001c0014t0017	a0001c0014t0017g0050 a0001c0014t0017g0050	1	102	0.0098	10	c.159 others(29): Show c.1592-1707_1592-1706insTGCGTGAGAG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116993458	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03139.hp2 HG00639.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0005 a0001c0001t0007 a0001c0003t0005	a0001c0001t0007g0078 a0001c0003t0005g0082 a0001c0001t0007g0078 a0001c0003t0005g0082	2	102	0.0196	10	c.159 others(31): Show c.1591+14624_1591+14633dupTGTGTGTGTG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116993853	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0025 a0003c0016 a0001c0002 a0001c0025 a0003c0016	a0001c0002t0001 a0001c0025t0001 a0003c0016t0004 a0001c0002t0001 a0001c0025t0001 a0003c0016t0004	a0001c0002t0001g0058 a0001c0025t0001g0080 a0003c0016t0004g0027 a0001c0002t0001g0058 a0001c0025t0001g0080 a0003c0016t0004g0027	3	102	0.0294	10	c.159 others(31): Show c.1591+14229_1591+14238dupATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar

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