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
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0006 a0010c0010t0006	a0010c0010t0006g0014 a0010c0010t0006g0014	1	182	0.0055	22	c.-36 others(41): Show c.-360-3377_-360-3376insGTATATATATATATATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16584223	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	182	0.0055	22	c.-36 others(41): Show c.-361+1556_-361+1557insATATATATATATATATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG01261.hp1 others(9): Show HG01074.hp1 HG01243.hp1 HG01261.hp1 HG02258.hp2 HG02523.hp2 HG02896.hp2 HG03139.hp1 HG03453.hp1 HG03834.hp2 NA18946.hp2 NA18952.hp2 NA19007.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0007 a0013 a0014 a0027 a0030 a0032 a0033	a0001c0001 a0003c0051 a0004c0041 others(7): Show a0001c0001 a0003c0051 a0004c0041 a0007c0009 a0013c0013 a0014c0017 a0027c0049 a0030c0058 a0032c0045 a0033c0044	a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 a0003c0051t0010 a0004c0041t0001 a0007c0009t0035 a0013c0013t0005 a0014c0017t0025 a0027c0049t0003 a0030c0058t0018 a0032c0045t0018 a0033c0044t0024	a0001c0001t0001g0103 a0001c0001t0005g0085 a0001c0001t0029g0145 others(9): Show a0001c0001t0001g0103 a0001c0001t0005g0085 a0001c0001t0029g0145 a0003c0051t0010g0173 a0004c0041t0001g0156 a0007c0009t0035g0018 a0013c0013t0005g0036 a0014c0017t0025g0142 a0027c0049t0003g0149 a0030c0058t0018g0054 a0032c0045t0018g0059 a0033c0044t0024g0048	12	182	0.0659	22	c.-48 others(43): Show c.-488-20961_-488-20960insCACACACACACACACACACACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16687657	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0022 a0022	a0022c0019 a0022c0019	a0022c0019t0001 a0022c0019t0001	a0022c0019t0001g0025 a0022c0019t0001g0025	1	182	0.0055	22	c.-61 others(43): Show c.-614-29778_-614-29757dupGTGTGTGTGTGTGTGTGTGTGT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01346.hp1 HG02300.hp1 HG01074.hp1 HG01346.hp1 HG02300.hp1	a0003 a0033 a0003 a0033	a0003c0003 a0033c0044 a0003c0003 a0033c0044	a0003c0003t0001 a0033c0044t0024 a0003c0003t0001 a0033c0044t0024	a0003c0003t0001g0042 a0003c0003t0001g0049 a0033c0044t0024g0048 a0003c0003t0001g0042 a0003c0003t0001g0049 a0033c0044t0024g0048	3	182	0.0165	22	c.-61 others(43): Show c.-615+22745_-615+22746insTATATATATATATATATATACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	298	0.0034	22	c.251 others(39): Show c.251+9771_251+9792dupTTTTTTTTTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105693941	A A	AGGAGCAG others(15): Show AGGAGCAGGGGAGGAAGAAGTCG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19079.hp2 NA19086.hp2 NA19066.hp2 NA19079.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0009g0055 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0009g0055	3	252	0.0119	22	c.356 others(41): Show c.356-28675_356-28654dupCGACTTCTTCCTCCCCTGCTCC	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727746	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19010.hp2 NA19009.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0004 a0001c0001t0003g0006	2	252	0.0079	22	c.355 others(41): Show c.355+60857_355+60858insTATATATATATATATATATACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727746	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	252	0.0040	22	c.355 others(41): Show c.355+60857_355+60858insTATATATATATATATATACACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105731751	A A	AAGAAAAG others(15): Show AAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp1 HG01099.hp2 others(28): Show HG00558.hp2 HG01099.hp1 HG01099.hp2 HG01516.hp2 HG01517.hp1 HG01978.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02145.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02735.hp2 HG03139.hp2 HG03209.hp2 HG03516.hp1 HG03942.hp1 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19056.hp2 NA19074.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0035 a0001c0001t0049 a0001c0001t0061 a0001c0001t0063 a0001c0008t0014	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0044 others(28): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0044 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0002g0053 a0001c0001t0002g0245 a0001c0001t0004g0211 a0001c0001t0004g0246 a0001c0001t0005g0159 a0001c0001t0006g0001 a0001c0001t0007g0057 a0001c0001t0007g0223 a0001c0001t0008g0216 a0001c0001t0009g0141 a0001c0001t0010g0093 a0001c0001t0011g0152 a0001c0001t0011g0170 a0001c0001t0012g0064 a0001c0001t0015g0019 a0001c0001t0016g0139 a0001c0001t0017g0113 a0001c0001t0017g0213 a0001c0001t0022g0224 a0001c0001t0027g0008 a0001c0001t0029g0215 a0001c0001t0035g0151 a0001c0001t0049g0148 a0001c0001t0061g0036 a0001c0001t0063g0041 a0001c0008t0014g0165	31	252	0.1230	22	c.355 others(41): Show c.355+56831_355+56852dupCTTTTCTTTTCTTTTCTTTTCT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105740784	T T	TTTTTTTT others(15): Show TTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp1 NA18522.hp1 others(2): Show HG02451.hp1 HG02896.hp1 NA18522.hp1 NA19066.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0145 a0001c0001t0002g0056 a0001c0001t0004g0211 others(2): Show a0001c0001t0001g0145 a0001c0001t0002g0056 a0001c0001t0004g0211 a0001c0001t0006g0117 a0001c0001t0009g0055	5	252	0.0198	22	c.355 others(41): Show c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105784458	A A	ACACACAC others(15): Show ACACACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0008 a0001c0001t0027g0008	1	252	0.0040	22	c.355 others(39): Show c.355+4145_355+4146insAGTGTGTGTGTGTGTGTGTGTG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105799497	T T	TGGGCTCC others(15): Show TGGGCTCCTATTCAGAGGGTCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00558.hp2 others(159): Show HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG04199.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18962.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0005 a0001c0006 others(8): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0001c0012 a0002c0002 a0003c0003 a0004c0013 a0005c0011 a0006c0010 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0062 a0001c0001t0064 a0001c0005t0007 a0001c0006t0001 a0001c0008t0014 a0001c0012t0003 a0002c0002t0022 a0002c0002t0030 a0002c0002t0032 a0002c0002t0033 a0002c0002t0059 a0003c0003t0020 a0004c0013t0036 a0005c0011t0008 a0006c0010t0031 a0007c0009t0007	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0026 others(159): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0059 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0145 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0002g0002 a0001c0001t0002g0021 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0142 a0001c0001t0002g0160 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0239 a0001c0001t0002g0245 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0043 a0001c0001t0003g0050 a0001c0001t0003g0070 a0001c0001t0003g0090 a0001c0001t0003g0100 a0001c0001t0003g0147 a0001c0001t0003g0150 a0001c0001t0003g0171 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0004g0084 a0001c0001t0004g0124 a0001c0001t0004g0127 a0001c0001t0004g0135 a0001c0001t0004g0203 a0001c0001t0004g0211 a0001c0001t0004g0246 a0001c0001t0005g0014 a0001c0001t0005g0025 a0001c0001t0005g0027 a0001c0001t0005g0126 a0001c0001t0005g0159 a0001c0001t0005g0206 a0001c0001t0005g0248 a0001c0001t0006g0001 a0001c0001t0006g0034 a0001c0001t0006g0067 a0001c0001t0006g0168 a0001c0001t0006g0197 a0001c0001t0007g0057 a0001c0001t0007g0202 a0001c0001t0007g0217 a0001c0001t0007g0223 a0001c0001t0008g0045 a0001c0001t0008g0089 a0001c0001t0008g0175 a0001c0001t0008g0216 a0001c0001t0009g0020 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0097 a0001c0001t0009g0103 a0001c0001t0009g0141 a0001c0001t0009g0146 a0001c0001t0010g0091 a0001c0001t0010g0093 a0001c0001t0010g0095 a0001c0001t0011g0012 a0001c0001t0011g0099 a0001c0001t0011g0101 a0001c0001t0011g0143 a0001c0001t0011g0152 a0001c0001t0011g0157 a0001c0001t0011g0164 a0001c0001t0011g0170 a0001c0001t0012g0052 a0001c0001t0012g0115 a0001c0001t0012g0122 a0001c0001t0012g0244 a0001c0001t0013g0156 a0001c0001t0013g0236 a0001c0001t0013g0241 a0001c0001t0013g0242 a0001c0001t0013g0243 a0001c0001t0013g0251 a0001c0001t0015g0060 a0001c0001t0015g0109 a0001c0001t0015g0125 a0001c0001t0015g0140 a0001c0001t0015g0193 a0001c0001t0016g0069 a0001c0001t0016g0139 a0001c0001t0017g0194 a0001c0001t0017g0213 a0001c0001t0018g0046 a0001c0001t0018g0058 a0001c0001t0018g0131 a0001c0001t0019g0178 a0001c0001t0019g0230 a0001c0001t0020g0169 a0001c0001t0021g0130 a0001c0001t0021g0184 a0001c0001t0023g0183 a0001c0001t0024g0077 a0001c0001t0026g0189 a0001c0001t0028g0114 a0001c0001t0029g0072 a0001c0001t0029g0215 a0001c0001t0031g0172 a0001c0001t0033g0040 a0001c0001t0034g0068 a0001c0001t0035g0151 a0001c0001t0037g0065 a0001c0001t0039g0180 a0001c0001t0040g0207 a0001c0001t0042g0161 a0001c0001t0043g0105 a0001c0001t0046g0138 a0001c0001t0051g0035 a0001c0001t0052g0133 a0001c0001t0053g0031 a0001c0001t0054g0087 a0001c0001t0056g0210 a0001c0001t0057g0229 a0001c0001t0058g0018 a0001c0001t0062g0007 a0001c0001t0064g0098 a0001c0005t0007g0209 a0001c0006t0001g0112 a0001c0008t0014g0165 a0001c0012t0003g0047 a0002c0002t0022g0066 a0002c0002t0022g0220 a0002c0002t0030g0208 a0002c0002t0030g0212 a0002c0002t0032g0149 a0002c0002t0032g0226 a0002c0002t0033g0221 a0002c0002t0059g0200 a0003c0003t0020g0199 a0004c0013t0036g0107 a0005c0011t0008g0092 a0006c0010t0031g0204 a0007c0009t0007g0096	162	252	0.6429	22	c.251 others(41): Show c.251-10790_251-10789insGAGACCCTCTGAATAGGAGCCC	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
ATXN7L3B_chr12_74532835_74550430	74536670	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	408	0.0025	22	c.-14 others(33): Show c.-1443_-1442insTTTTTTTTTTTTTTTTTTTTTT	ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding		1164		chr12	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(15): Show TATATATATACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	428	0.0023	22	c.-41 others(33): Show c.-4104_-4103insGTGTGTGTGTGTGTATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(15): Show TATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01168.hp1 HG01169.hp2 HG01074.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0015 a0001c0001t0001g0038	3	428	0.0070	22	c.-41 others(33): Show c.-4104_-4103insGTGTGTGTGTGTATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02071.hp2 HG02293.hp1 others(10): Show HG00423.hp2 HG02071.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 NA18944.hp2 NA18957.hp1 NA18982.hp1 NA19065.hp2 NA19081.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0006 a0004c0008 a0001c0001 a0002c0006 a0004c0008	a0001c0001t0001 a0002c0006t0001 a0004c0008t0001 a0001c0001t0001 a0002c0006t0001 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0041 a0002c0006t0001g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0041 a0002c0006t0001g0001 a0004c0008t0001g0007	13	410	0.0317	22	c.41 others(33): Show c.4170_*4171insAGAGAGAGAGAGAGAGAGAGAG	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		4040		chr19	TogoVar
AUTS2_chr7_69593475_70798506	69614344	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	76	0.0132	22	c.309 others(41): Show c.309+14397_309+14398insTCTTTCTTTTCTTTCTTTCTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69870448	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02165.hp1 HG02257.hp2 others(7): Show HG01433.hp1 HG02165.hp1 HG02257.hp2 HG02717.hp1 HG03139.hp1 HG03239.hp2 HG03516.hp2 NA19030.hp2 NA19240.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0009 a0001c0001 a0001c0004 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0004t0012 a0001c0004t0013 a0004c0009t0001	a0001c0001t0001g0073 a0001c0001t0002g0047 a0001c0001t0002g0053 others(7): Show a0001c0001t0001g0073 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0003g0066 a0001c0001t0004g0054 a0001c0001t0006g0010 a0001c0001t0018g0003 a0001c0004t0012g0024 a0001c0004t0013g0025 a0004c0009t0001g0043	10	76	0.1316	22	c.310 others(41): Show c.310-28820_310-28819insATATATATATATATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70340163	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	76	0.0132	22	c.661 others(41): Show c.661-95578_661-95557dupACACACACACACACACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70444373	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19030.hp2 NA19240.hp2 HG02257.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0012 a0001c0004t0013 a0001c0001t0006 a0001c0004t0012 a0001c0004t0013	a0001c0001t0006g0010 a0001c0004t0012g0024 a0001c0004t0013g0025 a0001c0001t0006g0010 a0001c0004t0012g0024 a0001c0004t0013g0025	3	76	0.0395	22	c.690 others(39): Show c.690+8593_690+8594insTGTGTGTGTGTGTGTGAGAGAG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01952.hp2 HG01175.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0005 a0001c0001t0029	a0001c0001t0005g0005 a0001c0001t0029g0022 a0001c0001t0005g0005 a0001c0001t0029g0022	2	76	0.0263	22	c.691 others(43): Show c.691-119307_691-119306insAAAAAAAAAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70649180	C C	CAGAAGTT others(15): Show CAGAAGTTTGAGACCTTTAGATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0033 a0002c0010t0033	a0002c0010t0033g0014 a0002c0010t0033g0014	1	76	0.0132	22	c.691 others(41): Show c.691-49352_691-49331dupTTTAGATTAGAAGTTTGAGACC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02897.hp2 HG04204.hp1 others(1): Show HG02280.hp1 HG02897.hp2 HG04204.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0004 a0001c0012t0001 a0001c0001t0001 a0001c0001t0004 a0001c0012t0001	a0001c0001t0001g0112 a0001c0001t0004g0148 a0001c0001t0004g0206 others(1): Show a0001c0001t0001g0112 a0001c0001t0004g0148 a0001c0001t0004g0206 a0001c0012t0001g0164	4	266	0.0150	22	c.446 others(41): Show c.446-23487_446-23466dupAAAAAAAAAAAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933491	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03453.hp2 HG01496.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0184 a0001c0001t0004g0149 a0001c0001t0004g0184	2	266	0.0075	22	c.446 others(41): Show c.446-57518_446-57497dupTGTGTGTGTGTGTGTGTGTGTG	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(15): Show CACACACACACACACACACAGAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	266	0.0038	22	c.446 others(41): Show c.446-57530_446-57529insCTCTGTGTGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(15): Show CACACACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	266	0.0038	22	c.446 others(41): Show c.446-57530_446-57529insCTCTCTGTGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32503367	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02896.hp1 NA18944.hp1 HG02738.hp1 HG02896.hp1 NA18944.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0046 a0001c0001t0106 a0003c0005t0066 a0001c0001t0046 a0001c0001t0106 a0003c0005t0066	a0001c0001t0046g0255 a0001c0001t0106g0291 a0003c0005t0066g0326 a0001c0001t0046g0255 a0001c0001t0106g0291 a0003c0005t0066g0326	3	330	0.0091	22	c.93+ others(37): Show c.93+7566_93+7567insCACACACACACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32512953	T T	TGGGATCC others(15): Show TGGGATCCATGAGGAGGCATGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00733.hp2 others(69): Show HG00099.hp2 HG00423.hp1 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01192.hp1 HG01243.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp2 HG02523.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02886.hp1 HG02896.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03688.hp2 HG03831.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18944.hp1 NA18945.hp2 NA18950.hp2 NA18952.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18970.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA19002.hp2 NA19010.hp2 NA19056.hp1 NA19057.hp2 NA19064.hp1 NA19068.hp2 NA19075.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19087.hp1 NA19089.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 others(36): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0024 a0001c0001t0028 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0058 a0001c0001t0078 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0141	a0001c0001t0009g0244 a0001c0001t0009g0252 a0001c0001t0009g0266 others(69): Show a0001c0001t0009g0244 a0001c0001t0009g0252 a0001c0001t0009g0266 a0001c0001t0009g0294 a0001c0001t0010g0250 a0001c0001t0010g0265 a0001c0001t0010g0268 a0001c0001t0010g0276 a0001c0001t0010g0289 a0001c0001t0010g0304 a0001c0001t0013g0258 a0001c0001t0013g0260 a0001c0001t0013g0262 a0001c0001t0013g0263 a0001c0001t0013g0282 a0001c0001t0013g0327 a0001c0001t0014g0249 a0001c0001t0014g0253 a0001c0001t0014g0259 a0001c0001t0014g0264 a0001c0001t0014g0293 a0001c0001t0014g0295 a0001c0001t0024g0284 a0001c0001t0024g0287 a0001c0001t0024g0288 a0001c0001t0028g0111 a0001c0001t0028g0242 a0001c0001t0028g0267 a0001c0001t0033g0243 a0001c0001t0033g0257 a0001c0001t0033g0269 a0001c0001t0034g0274 a0001c0001t0034g0275 a0001c0001t0034g0292 a0001c0001t0036g0285 a0001c0001t0036g0286 a0001c0001t0043g0247 a0001c0001t0043g0261 a0001c0001t0044g0240 a0001c0001t0044g0270 a0001c0001t0045g0272 a0001c0001t0045g0281 a0001c0001t0046g0245 a0001c0001t0046g0255 a0001c0001t0047g0273 a0001c0001t0047g0277 a0001c0001t0058g0298 a0001c0001t0058g0300 a0001c0001t0078g0241 a0001c0001t0095g0239 a0001c0001t0096g0280 a0001c0001t0097g0271 a0001c0001t0098g0254 a0001c0001t0099g0256 a0001c0001t0100g0303 a0001c0001t0101g0309 a0001c0001t0103g0246 a0001c0001t0104g0251 a0001c0001t0105g0279 a0001c0001t0106g0291 a0001c0001t0107g0283 a0001c0001t0108g0290 a0001c0001t0110g0315 a0001c0001t0111g0316 a0001c0001t0112g0278 a0001c0001t0113g0248 a0001c0001t0114g0238 a0001c0001t0135g0297 a0001c0001t0136g0299 a0001c0001t0137g0301 a0001c0001t0138g0296 a0001c0001t0141g0302	72	330	0.2182	22	c.93+ others(39): Show c.93+17153_93+17174dupGGATCCATGAGGAGGCATGGAG	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32548144	C C	CTCTTTTT others(15): Show CTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0142 a0001c0008t0142	a0001c0008t0142g0310 a0001c0008t0142g0310	1	330	0.0030	22	c.301 others(37): Show c.301-702_301-701insCTTTTTTTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32548151	C C	CTTTTGTT others(15): Show CTTTTGTTTTCTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01978.hp1 HG02486.hp2 others(8): Show HG00738.hp2 HG01978.hp1 HG02486.hp2 HG02572.hp1 HG03209.hp2 HG03579.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 NA19030.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(8): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0035 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0097 a0001c0001t0098 a0001c0001t0130 a0001c0006t0051	a0001c0001t0003g0021 a0001c0001t0007g0015 a0001c0001t0009g0197 others(8): Show a0001c0001t0003g0021 a0001c0001t0007g0015 a0001c0001t0009g0197 a0001c0001t0035g0005 a0001c0001t0057g0198 a0001c0001t0059g0213 a0001c0001t0060g0034 a0001c0001t0097g0271 a0001c0001t0098g0254 a0001c0001t0130g0049 a0001c0006t0051g0051	11	330	0.0333	22	c.301 others(37): Show c.301-692_301-691insGTTTTCTTTTTGTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02027.hp1 HG02040.hp2 others(3): Show HG01934.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 NA18946.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0281 a0002c0002t0002g0008 a0002c0002t0002g0051 a0001c0001t0001g0281 a0002c0002t0002g0008 a0002c0002t0002g0051	6	446	0.0135	22	c.287 others(37): Show c.287+717_287+738dupACACACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AXDND1_chr1_179360971_179559735	179486139	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAACT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01993.hp1 HG02015.hp2 others(10): Show HG01255.hp2 HG01993.hp1 HG02015.hp2 HG03486.hp2 NA18962.hp1 NA18967.hp1 NA18982.hp1 NA18998.hp2 NA19068.hp1 NA19079.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0011 a0001c0002 a0001c0007 a0001c0011	a0001c0002t0001 a0001c0007t0001 a0001c0011t0001 a0001c0002t0001 a0001c0007t0001 a0001c0011t0001	a0001c0002t0001g0091 a0001c0002t0001g0118 a0001c0002t0001g0125 others(10): Show a0001c0002t0001g0091 a0001c0002t0001g0118 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0135 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0007t0001g0190 a0001c0011t0001g0119	13	356	0.0365	22	c.209 others(41): Show c.2091+2920_2091+2921insAAAAAAAAAAAAAAAAAACTAA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488630	C C	CTTTTCTT others(15): Show CTTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0137 a0001c0006t0001g0137	1	356	0.0028	22	c.209 others(41): Show c.2092-2907_2092-2906insTTTCTTTCTTTCTTTCTTTCTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488634	C C	CTTTTCTT others(15): Show CTTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00639.hp2 others(6): Show HG00140.hp1 HG00597.hp1 HG00639.hp2 HG02015.hp1 HG02622.hp1 HG02970.hp1 NA18942.hp1 NA19004.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0214 a0001c0003t0001g0268 a0001c0003t0001g0269 others(6): Show a0001c0003t0001g0214 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0273 a0001c0003t0001g0280 a0001c0003t0001g0282 a0001c0003t0001g0285 a0001c0003t0001g0295 a0001c0003t0001g0297	9	356	0.0253	22	c.209 others(41): Show c.2092-2904_2092-2903insTTTTCTTTCTTTCTTTCTTTCT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25			chr1	TogoVar
AXIN1_chr16_282440_357723	285839	T T	TCCCAACC others(15): Show TCCCAACCGGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	378	0.0027	22	c.22 others(33): Show c.2282_*2283insGTTGGGAGAACCGCCGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1600		chr16	TogoVar
AXIN1_chr16_282440_357723	326372	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0276 a0001c0003t0036g0276	1	378	0.0027	22	c.879 others(41): Show c.879-11690_879-11689insATATATATATTTTTTTTTTTTT	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXIN1_chr16_282440_357723	326394	T T	TATATATA others(15): Show TATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01257.hp2 HG02451.hp1 others(1): Show HG01256.hp2 HG01257.hp2 HG02451.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0003t0004 a0001c0003t0041 others(1): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0041 a0001c0004t0042	a0001c0003t0003g0082 a0001c0003t0004g0182 a0001c0003t0041g0045 others(1): Show a0001c0003t0003g0082 a0001c0003t0004g0182 a0001c0003t0041g0045 a0001c0004t0042g0079	4	378	0.0106	22	c.879 others(41): Show c.879-11712_879-11711insGTGTGTATATATATATATATAT	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXL_chr19_41214223_41266766	41260298	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0013 a0001c0001t0058g0013	1	314	0.0032	22	c.40 others(31): Show c.404_*425dupTTTTTTTTTTTTTTTTTTTTTT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20	426	INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GALT1_chr2_167288001_167879045	167548687	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01255.hp2 others(4): Show HG00558.hp1 HG00673.hp1 HG01255.hp2 HG03654.hp1 NA18948.hp2 NA19060.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0001t0033 a0001c0001t0047	a0001c0001t0003g0082 a0001c0001t0003g0112 a0001c0001t0006g0040 others(4): Show a0001c0001t0003g0082 a0001c0001t0003g0112 a0001c0001t0006g0040 a0001c0001t0006g0089 a0001c0001t0019g0020 a0001c0001t0033g0016 a0001c0001t0047g0019	7	118	0.0593	22	c.-41 others(43): Show c.-410+58429_-410+58430insAGAGTGTGTGTGTGTGTGTGTG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167548694	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGAGAGTGTA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0079 a0001c0001t0015g0079	1	118	0.0085	22	c.-41 others(43): Show c.-410+58431_-410+58432insAGAGTGTATGTGTGTGTGTGTG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39639446	T T	TTTTTTCT others(15): Show TTTTTTCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0073 a0001c0001t0121g0073	1	336	0.0030	22	c.-39 others(41): Show c.-391-6945_-391-6944insTTTTCTTTCTCTCTCTCTCTCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0034 a0002c0002t0003g0034	1	268	0.0037	22	c.-38 others(33): Show c.-3878_-3877insTATATATATATATATATATTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	268	0.0037	22	c.-38 others(33): Show c.-3878_-3877insTATATATATATATATTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp2 HG01258.hp1 others(6): Show HG00741.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG03491.hp1 HG03710.hp2 HG03834.hp1 NA18951.hp1 NA19082.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0005c0006 a0001c0001 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0001t0010 a0004c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0010 a0004c0005t0001 a0005c0006t0003	a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0113 others(6): Show a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0113 a0001c0001t0001g0184 a0001c0001t0010g0114 a0004c0005t0001g0073 a0004c0005t0001g0074 a0005c0006t0003g0226 a0005c0006t0003g0227	9	268	0.0336	22	c.106 others(41): Show c.1065-1156_1065-1135dupTATATATATATATATATATATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0252 a0002c0002t0001g0252	1	268	0.0037	22	c.106 others(41): Show c.1065-1158_1065-1157insTTATATATATATATATATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNT3_chr19_17790138_17818576	17807111	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(41): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00621.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG03486.hp2 HG03540.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18945.hp1 NA18946.hp1 NA18952.hp1 NA18959.hp2 NA18963.hp1 NA19002.hp1 NA19005.hp1 NA19062.hp2 NA19065.hp2 NA19074.hp1 NA19082.hp2 NA19083.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0001t0025 a0002c0002t0002 a0003c0004t0011 a0004c0005t0020 a0004c0005t0028	a0001c0001t0002g0015 a0001c0001t0002g0035 a0001c0001t0002g0036 others(30): Show a0001c0001t0002g0015 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0134 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0239 a0001c0001t0003g0009 a0001c0001t0003g0030 a0001c0001t0003g0122 a0001c0001t0003g0139 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0004g0206 a0001c0001t0004g0225 a0001c0001t0005g0041 a0001c0001t0005g0241 a0001c0001t0006g0012 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0171 a0001c0001t0006g0175 a0001c0001t0006g0178 a0001c0001t0010g0220 a0001c0001t0019g0167 a0001c0001t0025g0012 a0002c0002t0002g0227 a0003c0004t0011g0017 a0004c0005t0020g0263 a0004c0005t0028g0197	44	406	0.1084	22	c.-50 others(37): Show c.-50-634_-50-613dupGTGTGTGTGTGTGTGTGTGTGT	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GNT5_chr3_183248253_183278385	183269230	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	390	0.0026	22	c.-30 others(39): Show c.-301-250_-301-249insTTTTTTTTTTTTTTTTTTTTTT	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	82940221	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02056.hp1 HG01109.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0028 a0001c0001t0004 a0001c0002t0028	a0001c0001t0004g0253 a0001c0002t0028g0120 a0001c0001t0004g0253 a0001c0002t0028g0120	2	266	0.0075	22	c.38 others(33): Show c.3831_*3852dupTGTGTGTGTGTGTGTGTGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1927		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82946569	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG01361.hp2 others(11): Show HG00609.hp1 HG00673.hp1 HG01361.hp2 HG02486.hp2 HG03195.hp2 HG03516.hp1 NA18943.hp1 NA18945.hp1 NA18959.hp1 NA18959.hp2 NA18983.hp2 NA19012.hp1 NA19062.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0003c0024	a0001c0001t0002 a0001c0001t0019 a0001c0002t0008 others(8): Show a0001c0001t0002 a0001c0001t0019 a0001c0002t0008 a0001c0002t0010 a0001c0003t0004 a0001c0003t0020 a0001c0004t0026 a0001c0006t0008 a0001c0006t0010 a0001c0008t0021 a0003c0024t0010	a0001c0001t0002g0160 a0001c0001t0019g0181 a0001c0002t0008g0069 others(11): Show a0001c0001t0002g0160 a0001c0001t0019g0181 a0001c0002t0008g0069 a0001c0002t0008g0099 a0001c0002t0008g0108 a0001c0002t0010g0126 a0001c0003t0004g0223 a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0004t0026g0046 a0001c0006t0008g0020 a0001c0006t0010g0010 a0001c0008t0021g0213 a0003c0024t0010g0151	14	266	0.0526	22	c.24 others(37): Show c.24+309_*24+310insACACACACACACACACACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	12/12			chr17	TogoVar

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