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	distance	status	chr	external
ATXN7L1_chr7_105599772_105881599	105745983	CCCCTGCT others(3): Show CCCCTGCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0031 a0001c0001t0020 a0001c0001t0031	a0001c0001t0020g0169 a0001c0001t0031g0172 a0001c0001t0020g0169 a0001c0001t0031g0172	2	252	0.0079	-10	c.355 others(29): Show c.355+42611_355+42620delAAAAGCAGGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105806919	AAGGGTGA others(3): Show AAGGGTGACTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00642.hp2 others(85): Show HG00280.hp1 HG00558.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG03041.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp1 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18962.hp1 NA18970.hp1 NA18970.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0006 a0001c0008 others(5): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0003c0003 a0004c0013 a0005c0011 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0042 a0001c0001t0046 a0001c0001t0052 a0001c0001t0057 a0001c0001t0058 a0001c0006t0001 a0001c0008t0014 a0002c0002t0022 a0002c0002t0032 a0002c0002t0059 a0003c0003t0020 a0004c0013t0036 a0005c0011t0008 a0006c0010t0031	a0001c0001t0001g0009 a0001c0001t0001g0059 a0001c0001t0001g0085 others(85): Show a0001c0001t0001g0009 a0001c0001t0001g0059 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0142 a0001c0001t0002g0160 a0001c0001t0002g0173 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0239 a0001c0001t0003g0011 a0001c0001t0003g0043 a0001c0001t0003g0070 a0001c0001t0003g0147 a0001c0001t0003g0150 a0001c0001t0003g0171 a0001c0001t0003g0238 a0001c0001t0004g0127 a0001c0001t0004g0203 a0001c0001t0004g0246 a0001c0001t0005g0014 a0001c0001t0005g0025 a0001c0001t0005g0248 a0001c0001t0006g0001 a0001c0001t0006g0034 a0001c0001t0006g0168 a0001c0001t0007g0057 a0001c0001t0007g0202 a0001c0001t0007g0223 a0001c0001t0008g0089 a0001c0001t0008g0175 a0001c0001t0009g0020 a0001c0001t0009g0054 a0001c0001t0009g0103 a0001c0001t0009g0141 a0001c0001t0009g0146 a0001c0001t0010g0091 a0001c0001t0010g0093 a0001c0001t0010g0095 a0001c0001t0011g0012 a0001c0001t0011g0101 a0001c0001t0011g0152 a0001c0001t0011g0157 a0001c0001t0011g0164 a0001c0001t0011g0170 a0001c0001t0013g0156 a0001c0001t0013g0251 a0001c0001t0015g0060 a0001c0001t0015g0109 a0001c0001t0015g0193 a0001c0001t0016g0139 a0001c0001t0018g0046 a0001c0001t0020g0169 a0001c0001t0021g0184 a0001c0001t0023g0183 a0001c0001t0024g0077 a0001c0001t0028g0114 a0001c0001t0029g0072 a0001c0001t0031g0172 a0001c0001t0034g0068 a0001c0001t0035g0151 a0001c0001t0042g0161 a0001c0001t0046g0138 a0001c0001t0052g0133 a0001c0001t0057g0229 a0001c0001t0058g0018 a0001c0006t0001g0112 a0001c0008t0014g0165 a0002c0002t0022g0220 a0002c0002t0032g0149 a0002c0002t0032g0226 a0002c0002t0059g0200 a0003c0003t0020g0199 a0004c0013t0036g0107 a0005c0011t0008g0092 a0006c0010t0031g0204	88	252	0.3492	-10	c.251 others(29): Show c.251-18221_251-18212delAAGTCACCCT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105860138	TATATATA others(3): Show TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01168.hp1 HG01433.hp2 others(8): Show HG01167.hp1 HG01168.hp1 HG01433.hp2 HG01891.hp2 HG02055.hp1 HG02647.hp1 HG02965.hp2 HG03516.hp1 HG03540.hp2 NA19003.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0001t0029 a0001c0001t0045 a0002c0002t0033	a0001c0001t0001g0119 a0001c0001t0002g0231 a0001c0001t0007g0217 others(8): Show a0001c0001t0001g0119 a0001c0001t0002g0231 a0001c0001t0007g0217 a0001c0001t0007g0223 a0001c0001t0008g0216 a0001c0001t0011g0157 a0001c0001t0012g0232 a0001c0001t0022g0224 a0001c0001t0029g0215 a0001c0001t0045g0190 a0002c0002t0033g0221	11	252	0.0437	-10	c.250 others(29): Show c.250+15664_250+15673delGTATATATAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
ATXN7L3B_chr12_74532835_74550430	74536670	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG02451.hp1 others(6): Show HG01243.hp1 HG02257.hp2 HG02451.hp1 HG02723.hp1 HG02895.hp2 HG02970.hp2 HG03139.hp1 HG03453.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 others(1): Show a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 a0001c0002t0032	a0001c0002t0012g0000 a0001c0002t0013g0000 a0001c0002t0020g0000 others(1): Show a0001c0002t0012g0000 a0001c0002t0013g0000 a0001c0002t0020g0000 a0001c0002t0032g0000	9	408	0.0221	-10	c.-14 others(21): Show c.-1442_-1433delTTTTTTTTTT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					1164		chr12	TogoVar
ATXN7_chr3_63858867_64008462	63884203	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp2 HG02145.hp1 others(12): Show HG00735.hp1 HG01934.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03139.hp1 NA18522.hp1 NA20129.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0004c0027 a0002c0002 a0004c0006 a0004c0027	a0002c0002t0058 a0004c0006t0004 a0004c0006t0024 others(2): Show a0002c0002t0058 a0004c0006t0004 a0004c0006t0024 a0004c0006t0027 a0004c0027t0004	a0002c0002t0058g0032 a0004c0006t0004g0003 a0004c0006t0004g0125 others(11): Show a0002c0002t0058g0032 a0004c0006t0004g0003 a0004c0006t0004g0125 a0004c0006t0004g0132 a0004c0006t0004g0133 a0004c0006t0004g0134 a0004c0006t0004g0136 a0004c0006t0004g0137 a0004c0006t0004g0138 a0004c0006t0004g0150 a0004c0006t0024g0124 a0004c0006t0024g0131 a0004c0006t0027g0027 a0004c0027t0004g0126	15	300	0.0500	-10	c.-11 others(31): Show c.-110-14167_-110-14158delCACACACACA		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63884232	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0017 a0017	a0017c0033 a0017c0033	a0017c0033t0003 a0017c0033t0003	a0017c0033t0003g0207 a0017c0033t0003g0207	1	300	0.0033	-10	c.-11 others(31): Show c.-110-14164_-110-14155delACACACATAC		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63940285	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18957.hp1 NA19011.hp2 HG01192.hp2 NA18957.hp1 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0050 a0002c0003t0002 a0002c0002t0050 a0002c0003t0002	a0002c0002t0050g0145 a0002c0003t0002g0293 a0002c0003t0002g0294 a0002c0002t0050g0145 a0002c0003t0002g0293 a0002c0003t0002g0294	3	300	0.0100	-10	c.395 others(29): Show c.395-12061_395-12052delCACACACACA		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63964073	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18953.hp1 NA18982.hp2 others(1): Show HG02886.hp2 NA18953.hp1 NA18982.hp2 NA18998.hp1	a0002 a0006 a0018 a0002 a0006 a0018	a0002c0003 a0006c0012 a0018c0025 a0002c0003 a0006c0012 a0018c0025	a0002c0003t0002 a0002c0003t0008 a0006c0012t0019 others(1): Show a0002c0003t0002 a0002c0003t0008 a0006c0012t0019 a0018c0025t0002	a0002c0003t0002g0218 a0002c0003t0008g0262 a0006c0012t0019g0012 others(1): Show a0002c0003t0002g0218 a0002c0003t0008g0262 a0006c0012t0019g0012 a0018c0025t0002g0257	4	300	0.0133	-10	c.499 others(29): Show c.499+11617_499+11626delACACACACAC		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
AUH_chr9_91208823_91366918	91359580	AAAAAGAA others(3): Show AAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01261.hp1 HG01167.hp1 HG01169.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0065 a0001c0001t0001g0292 a0001c0001t0001g0293	3	358	0.0084	-10	c.262 others(27): Show c.262+2038_262+2047delCTTTTCTTTT		AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	1/9						chr9	TogoVar
AUNIP_chr1_25829006_25864457	25835277	GTTTCACT others(3): Show GTTTCACTGAT	G G	frameshift_variant frameshift_variant	HIGH	HG01175.hp2 HG01175.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0145 a0006c0008t0001g0145	1	352	0.0028	-10	c.780 others(17): Show c.780_789delATCAGTGAAA	p.Glu others(5): Show p.Glu260fs	AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding	3/3	889/2161	780/1074	260/357			chr1	TogoVar
AUNIP_chr1_25829006_25864457	25860896	TTATGTGT others(3): Show TTATGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	352	0.0028	-10	c.-15 others(21): Show c.-1549_-1540delCACACACATA		AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding					1440		chr1	TogoVar
AUNIP_chr1_25829006_25864457	25860898	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(98): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01256.hp2 HG01257.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18988.hp2 NA18991.hp1 NA18994.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19080.hp1 NA19081.hp2 NA20300.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0010 others(1): Show a0001c0001 a0001c0004 a0005c0010 a0005c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0004t0001 a0005c0010t0001 a0005c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(64): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0078 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0193 a0001c0001t0005g0008 a0001c0001t0005g0195 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0200 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0006g0207 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0006g0216 a0001c0001t0007g0014 a0001c0001t0007g0130 a0001c0001t0007g0135 a0001c0001t0007g0150 a0001c0001t0008g0132 a0001c0001t0008g0138 a0001c0001t0008g0152 a0001c0001t0009g0017 a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0009g0041 a0001c0001t0011g0196 a0001c0001t0011g0199 a0001c0001t0011g0201 a0001c0001t0011g0204 a0001c0001t0011g0205 a0001c0001t0014g0206 a0001c0001t0014g0210 a0001c0001t0017g0139 a0001c0004t0001g0108 a0001c0004t0001g0140 a0005c0010t0001g0141 a0005c0011t0001g0155	101	352	0.2869	-10	c.-15 others(21): Show c.-1551_-1542delCACACACACA		AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding					1442		chr1	TogoVar
AUNIP_chr1_25829006_25864457	25862012	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 NA19078.hp1 HG02451.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0217 a0001c0001t0004g0218	2	352	0.0057	-10	c.-26 others(21): Show c.-2665_-2656delTTTTTTTTTT		AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding					2556		chr1	TogoVar
AURKA_chr20_56364390_56397215	56374016	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03579.hp2 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0187 a0001c0001t0004g0195 a0001c0001t0004g0187 a0001c0001t0004g0195	2	384	0.0052	-10	c.706 others(25): Show c.706-470_706-461delGTGTGTGTGT		AURKA	ENSG00000087586.18	transcript	ENST00000395915.8	protein_coding	6/8						chr20	TogoVar
AUTS2_chr7_69593475_70798506	69602040	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0007 a0005c0011t0007	a0005c0011t0007g0004 a0005c0011t0007g0004	1	76	0.0132	-10	c.309 others(27): Show c.309+2122_309+2131delGTGTGTGTGT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69614775	CGCCCATC others(3): Show CGCCCATCTGA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp2 HG03540.hp2 others(1): Show HG02055.hp2 HG02886.hp2 HG03540.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0009 a0001c0003t0027 a0002c0002t0031 a0001c0001t0009 a0001c0003t0027 a0002c0002t0031	a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0003t0027g0009 others(1): Show a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0003t0027g0009 a0002c0002t0031g0007	4	76	0.0526	-10	c.309 others(29): Show c.309+14815_309+14824delCCCATCTGAG		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69671486	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0025 a0001c0004t0013g0025	1	76	0.0132	-10	c.309 others(29): Show c.309+71553_309+71562delGTGTGTGTGT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69806197	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01934.hp1 HG02258.hp2 others(3): Show HG01433.hp1 HG01934.hp1 HG02258.hp2 HG02647.hp1 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0023	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0076 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0076 a0001c0001t0004g0042 a0001c0001t0019g0075 a0001c0001t0023g0072	6	76	0.0790	-10	c.310 others(29): Show c.310-93067_310-93058delTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876345	AAAAAATA others(3): Show AAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	76	0.0132	-10	c.310 others(29): Show c.310-22939_310-22930delAAAATATATA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876347	AAAATATA others(3): Show AAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	76	0.0132	-10	c.310 others(29): Show c.310-22937_310-22928delAATATATATA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876484	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00597.hp1 others(4): Show HG00280.hp1 HG00280.hp2 HG00597.hp1 HG00741.hp2 HG03041.hp2 HG03704.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0021	a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0071 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0067 a0001c0001t0003g0068 a0001c0001t0005g0028 a0001c0001t0021g0060	7	76	0.0921	-10	c.310 others(29): Show c.310-22750_310-22741delATATATATAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69888540	GATATATA others(3): Show GATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0059 a0002c0002t0024g0059	1	76	0.0132	-10	c.310 others(29): Show c.310-10723_310-10714delATATATATAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69891774	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	76	0.0132	-10	c.310 others(27): Show c.310-7484_310-7475delTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69914356	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0001 a0001c0001t0015g0001	1	76	0.0132	-10	c.522 others(29): Show c.522+14888_522+14897delCACACACACA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69946557	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA19240.hp1 HG00741.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0062 a0001c0001t0007g0040 a0001c0001t0002g0062 a0001c0001t0007g0040	2	76	0.0263	-10	c.522 others(29): Show c.522+47100_522+47109delACACACACAC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69978859	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA21309.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0015 a0001c0001t0016	a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0015g0001 a0001c0001t0016g0002	2	76	0.0263	-10	c.522 others(29): Show c.522+79394_522+79403delACACACACAC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70011314	TCTCTCCT others(3): Show TCTCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp2 HG02615.hp2 others(9): Show HG01952.hp2 HG02055.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03041.hp1 HG03139.hp2 HG03540.hp2 HG03579.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0010	a0001c0001t0005 a0001c0001t0009 a0001c0001t0032 others(7): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0027 a0001c0005t0030 a0002c0002t0026 a0002c0002t0031 a0002c0010t0033	a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0009g0006 others(9): Show a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0027g0009 a0001c0005t0030g0013 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0010t0033g0014	12	76	0.1579	-10	c.523 others(31): Show c.523-106776_523-106767delTCTCCTCTCC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70043591	TCCTTCCT others(3): Show TCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0007 a0005c0011t0007	a0005c0011t0007g0004 a0005c0011t0007g0004	1	76	0.0132	-10	c.523 others(29): Show c.523-74540_523-74531delCCTTCCTTCC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18						chr7	TogoVar
AUTS2_chr7_69593475_70798506	70125245	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01175.hp1 others(21): Show HG00741.hp1 HG01081.hp1 HG01175.hp1 HG01243.hp2 HG01433.hp1 HG01884.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG03041.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG04199.hp1 NA18612.hp2 NA18952.hp2 NA19030.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0003t0008 a0001c0004t0012 a0001c0004t0013 a0001c0007t0006 a0003c0006t0003	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0033 others(21): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0031 a0001c0001t0003g0035 a0001c0001t0006g0010 a0001c0001t0006g0038 a0001c0001t0007g0040 a0001c0001t0014g0070 a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0019g0075 a0001c0001t0020g0029 a0001c0001t0022g0032 a0001c0001t0023g0072 a0001c0003t0008g0069 a0001c0004t0012g0024 a0001c0004t0013g0025 a0001c0007t0006g0027 a0003c0006t0003g0034	24	76	0.3158	-10	c.624 others(27): Show c.624+7044_624+7053delGTGTGTGTGT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70181323	TGGCGTGA others(3): Show TGGCGTGATTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0029 a0001c0001t0020g0029	1	76	0.0132	-10	c.660 others(29): Show c.660+46753_660+46762delGGCGTGATTG		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18						chr7	TogoVar
AUTS2_chr7_69593475_70798506	70224331	GTACAATA others(3): Show GTACAATACAA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01934.hp2 others(9): Show HG00741.hp2 HG01081.hp1 HG01934.hp2 HG02165.hp2 HG02257.hp1 HG02630.hp2 HG02717.hp2 HG03239.hp1 HG03516.hp2 HG03704.hp2 NA18612.hp2 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0011 a0001c0001 a0001c0003 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0001t0022 a0001c0001t0032 a0001c0003t0008 a0005c0011t0007	a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0044 others(9): Show a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0003g0035 a0001c0001t0004g0048 a0001c0001t0004g0056 a0001c0001t0005g0028 a0001c0001t0018g0003 a0001c0001t0022g0032 a0001c0001t0032g0016 a0001c0003t0008g0069 a0005c0011t0007g0004	12	76	0.1579	-10	c.660 others(29): Show c.660+89823_660+89832delCAATACAATA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70243231	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01952.hp2 HG02886.hp2 others(3): Show HG01081.hp2 HG01952.hp2 HG02886.hp2 HG03139.hp2 HG04199.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0003t0027	a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 others(3): Show a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0009g0008 a0001c0001t0028g0021 a0001c0003t0027g0009	6	76	0.0790	-10	c.660 others(31): Show c.660+108700_660+108709delGTGTGTGTGT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70311545	TTTTTGTT others(3): Show TTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	76	0.0132	-10	c.661 others(31): Show c.661-124187_661-124178delGTTTTGTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70377325	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	76	0.0132	-10	c.661 others(29): Show c.661-58387_661-58378delTATATATATA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70437837	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0069 a0001c0003t0008g0069	1	76	0.0132	-10	c.690 others(27): Show c.690+2067_690+2076delAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70515371	GAGGATTT others(3): Show GAGGATTTCCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp1 HG02257.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0047 a0001c0001t0004g0048 a0001c0001t0002g0047 a0001c0001t0004g0048	2	76	0.0263	-10	c.690 others(29): Show c.690+79600_690+79609delAAGGATTTCC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70613231	GTGTGTGT others(3): Show GTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	76	0.0132	-10	c.691 others(29): Show c.691-85328_691-85319delCTGTGTGTGT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70715502	GTCTTTTT others(3): Show GTCTTTTTTTC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	76	0.0132	-10	c.742 others(29): Show c.742+16884_742+16893delCTTTTTTTCT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70715507	TTTTTCTT others(3): Show TTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0009 a0001c0003t0027g0009	1	76	0.0132	-10	c.742 others(29): Show c.742+16917_742+16926delCTTTTCTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70723434	GCCAAACT others(3): Show GCCAAACTGCC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG01884.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0010 a0001c0001t0011	a0001c0001t0010g0065 a0001c0001t0011g0041 a0001c0001t0010g0065 a0001c0001t0011g0041	2	76	0.0263	-10	c.742 others(29): Show c.742+24818_742+24827delAACTGCCCCA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70784742	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01081.hp1 others(16): Show HG00099.hp2 HG00741.hp1 HG01081.hp1 HG01175.hp1 HG01433.hp2 HG01884.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG03017.hp1 HG03579.hp1 HG04199.hp2 NA19030.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0023 a0001c0001t0028 a0001c0001t0034 a0004c0009t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0074 others(16): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0074 a0001c0001t0004g0048 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0006g0010 a0001c0001t0006g0038 a0001c0001t0007g0040 a0001c0001t0007g0055 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0014g0070 a0001c0001t0015g0001 a0001c0001t0023g0072 a0001c0001t0028g0021 a0001c0001t0034g0018 a0004c0009t0001g0043	19	76	0.2500	-10	c.214 others(27): Show c.2147-178_2147-169delAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70796445	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01081.hp1 HG01081.hp2 others(1): Show HG00099.hp2 HG01081.hp1 HG01081.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0019	a0001c0001t0001g0036 a0001c0001t0005g0015 a0001c0001t0009g0023 others(1): Show a0001c0001t0001g0036 a0001c0001t0005g0015 a0001c0001t0009g0023 a0001c0001t0019g0075	4	76	0.0526	-10	c.54 others(21): Show c.5450_*5459delTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding					2940		chr7	TogoVar
AVEN_chr15_33861227_34044204	33868544	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	266	0.0038	-10	c.613 others(25): Show c.613-699_613-690delTTTTTTTTTT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	4/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33894822	ATAATAAC others(3): Show ATAATAACAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18993.hp2 HG01109.hp1 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0074 a0002c0002t0001g0246 a0001c0001t0001g0074 a0002c0002t0001g0246	2	266	0.0075	-10	c.446 others(29): Show c.446-18837_446-18828delATTGTTATTA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33899460	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02083.hp1 HG02451.hp1 others(11): Show HG01346.hp1 HG02083.hp1 HG02451.hp1 HG02886.hp1 HG03225.hp1 HG03486.hp2 HG06807.hp2 NA18906.hp1 NA18957.hp2 NA18968.hp1 NA18979.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0024 a0001c0001t0001g0089 a0001c0001t0001g0125 others(11): Show a0001c0001t0001g0024 a0001c0001t0001g0089 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0200 a0001c0001t0002g0046 a0001c0001t0002g0076 a0001c0001t0002g0117 a0001c0001t0005g0124	14	266	0.0526	-10	c.446 others(29): Show c.446-23475_446-23466delAAAAAAAAAA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33901878	CTAACAGT others(3): Show CTAACAGTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011	a0001c0001 a0001c0012 a0002c0002 others(7): Show a0001c0001 a0001c0012 a0002c0002 a0003c0003 a0004c0004 a0005c0007 a0006c0006 a0008c0009 a0010c0011 a0011c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0012t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0003 a0004c0004t0001 a0005c0007t0003 a0006c0006t0002 a0008c0009t0002 a0010c0011t0001 a0011c0008t0001	a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0031 others(210): Show a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0108 a0001c0001t0002g0172 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0192 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0005g0122 a0001c0001t0005g0146 a0001c0001t0005g0194 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0006g0030 a0001c0001t0006g0123 a0001c0001t0006g0126 a0001c0001t0006g0197 a0001c0012t0001g0164 a0002c0002t0001g0051 a0002c0002t0001g0058 a0002c0002t0001g0062 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0219 a0002c0002t0001g0233 a0002c0002t0001g0239 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0257 a0002c0002t0001g0262 a0003c0003t0001g0263 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0011 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0015 a0004c0004t0001g0018 a0004c0004t0001g0019 a0005c0007t0003g0006 a0005c0007t0003g0009 a0005c0007t0003g0010 a0006c0006t0002g0061 a0006c0006t0002g0063 a0006c0006t0002g0234 a0008c0009t0002g0021 a0010c0011t0001g0044 a0011c0008t0001g0017	213	266	0.8008	-10	c.446 others(29): Show c.446-25893_446-25884delAGAACTGTTA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33905821	GGAAAGAA others(3): Show GGAAAGAAAAA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	266	0.0038	-10	c.446 others(29): Show c.446-29836_446-29827delTTTTTCTTTC		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33931349	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	266	0.0038	-10	c.446 others(29): Show c.446-55364_446-55355delAAAAAAAAAA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33933516	CACACACA others(3): Show CACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0185 a0001c0001t0001g0187	2	266	0.0075	-10	c.446 others(29): Show c.446-57531_446-57522delCTGTGTGTGT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33933518	CACACACA others(3): Show CACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	266	0.0038	-10	c.446 others(29): Show c.446-57533_446-57524delCTCTGTGTGT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar

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