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
CHN2_chr7_29189775_29519328	29482797	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG00741.hp2 others(17): Show HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01069.hp2 HG01109.hp2 HG01433.hp2 HG01891.hp1 HG02135.hp1 HG02145.hp1 HG02896.hp1 HG02897.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp1 NA18971.hp2 NA19000.hp1 NA19080.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0027	a0001c0001t0001g0187 a0001c0001t0003g0032 a0001c0001t0005g0156 others(17): Show a0001c0001t0001g0187 a0001c0001t0003g0032 a0001c0001t0005g0156 a0001c0001t0005g0159 a0001c0001t0007g0116 a0001c0001t0007g0205 a0001c0001t0007g0212 a0001c0001t0009g0158 a0001c0001t0011g0053 a0001c0001t0012g0172 a0001c0002t0001g0063 a0001c0002t0001g0134 a0001c0002t0002g0002 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0086 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0004g0196 a0001c0002t0027g0060	20	232	0.0862	-12	c.654 others(29): Show c.654+2472_654+2483delTTTTTTTTTTTT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29511201	TAAGACAT others(5): Show TAAGACATACAAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(24): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00673.hp1 HG01928.hp1 HG01943.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG03239.hp2 HG03710.hp1 HG04204.hp2 NA18612.hp1 NA18942.hp2 NA18991.hp2 NA19000.hp2 NA19012.hp1 NA19060.hp1 NA19074.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0003 a0001c0001t0024 a0001c0002t0001 others(3): Show a0001c0001t0003 a0001c0001t0024 a0001c0002t0001 a0001c0002t0004 a0001c0006t0004 a0002c0003t0004	a0001c0001t0003g0190 a0001c0001t0024g0080 a0001c0002t0001g0063 others(24): Show a0001c0001t0003g0190 a0001c0001t0024g0080 a0001c0002t0001g0063 a0001c0002t0004g0004 a0001c0002t0004g0042 a0001c0002t0004g0074 a0001c0002t0004g0088 a0001c0002t0004g0095 a0001c0002t0004g0118 a0001c0002t0004g0132 a0001c0002t0004g0169 a0001c0002t0004g0196 a0001c0002t0004g0199 a0001c0002t0004g0207 a0001c0002t0004g0216 a0001c0006t0004g0182 a0002c0003t0004g0021 a0002c0003t0004g0071 a0002c0003t0004g0072 a0002c0003t0004g0089 a0002c0003t0004g0099 a0002c0003t0004g0101 a0002c0003t0004g0104 a0002c0003t0004g0110 a0002c0003t0004g0124 a0002c0003t0004g0146 a0002c0003t0004g0203	27	232	0.1164	-12	c.123 others(31): Show c.1236-1351_1236-1340delGAAGACATACAA		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHP1_chr15_41226268_41286887	41249462	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	298	0.0034	-12	c.140 others(29): Show c.140+5740_140+5751delTTTTTTTTTTTT		CHP1	ENSG00000187446.12	transcript	ENST00000334660.10	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHP1_chr15_41226268_41286887	41253423	GTATTTAT others(5): Show GTATTTATTTATT	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	298	0.0034	-12	c.141 others(29): Show c.141-3449_141-3438delATTTATTTATTT		CHP1	ENSG00000187446.12	transcript	ENST00000334660.10	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHP2_chr16_23750026_23763935	23750869	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02145.hp2 HG02273.hp1 others(14): Show HG00642.hp1 HG02145.hp2 HG02273.hp1 HG03017.hp1 HG03017.hp2 HG03654.hp1 HG06807.hp1 NA18941.hp2 NA18964.hp2 NA18980.hp2 NA18982.hp2 NA18993.hp2 NA19004.hp1 NA19056.hp1 NA19081.hp2 NA19084.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0003g0011	17	392	0.0434	-12	c.-41 others(23): Show c.-4180_-4169delTTTCTTTCTTTC		CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding					4156		chr16	TogoVar
CHP2_chr16_23750026_23763935	23750929	CTTTCTTT others(5): Show CTTTCTTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01261.hp1 HG01433.hp2 others(1): Show HG00735.hp1 HG01261.hp1 HG01433.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0002 a0001c0001t0001g0010	4	392	0.0102	-12	c.-41 others(23): Show c.-4120_-4109delTTTCTTTCTTTT		CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding					4096		chr16	TogoVar
CHRAC1_chr8_140506322_140522154	140510393	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0013 a0004c0004t0001g0013	1	424	0.0024	-12	c.-11 others(23): Show c.-1106_-1095delAAAAAAAAAAAA		CHRAC1	ENSG00000104472.10	transcript	ENST00000220913.10	protein_coding					928		chr8	TogoVar
CHRAC1_chr8_140506322_140522154	140513913	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01074.hp1 others(21): Show HG00323.hp1 HG00642.hp1 HG01074.hp1 HG01106.hp2 HG02055.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03139.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04199.hp1 NA18522.hp1 NA18968.hp2 NA18987.hp1 NA19030.hp1 NA20905.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0007c0008 a0001c0001 a0004c0004 a0007c0008	a0001c0001t0001 a0001c0001t0012 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0024 a0004c0004t0001 a0007c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0031 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0012g0004 a0001c0001t0024g0038 a0004c0004t0001g0013 a0007c0008t0001g0013	24	424	0.0566	-12	c.148 others(27): Show c.148-442_148-431delTTTTTTTTTTTT		CHRAC1	ENSG00000104472.10	transcript	ENST00000220913.10	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRDL1_chrX_110668856_110800817	110669080	TTATATAT others(5): Show TTATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0134 a0001c0001t0010g0134	1	172	0.0058	-12	c.71 others(23): Show c.7139_*7150delTATATATATATA		CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding					4775		chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110688984	TCAGGAGC others(5): Show TCAGGAGCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02572.hp1 others(5): Show HG01109.hp1 HG01243.hp1 HG02572.hp1 HG02615.hp2 HG03195.hp2 HG03516.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0008 a0001c0002t0012 a0001c0002t0022 others(2): Show a0001c0002t0008 a0001c0002t0012 a0001c0002t0022 a0001c0002t0023 a0001c0006t0008	a0001c0002t0008g0010 a0001c0002t0008g0014 a0001c0002t0008g0111 others(5): Show a0001c0002t0008g0010 a0001c0002t0008g0014 a0001c0002t0008g0111 a0001c0002t0012g0011 a0001c0002t0012g0015 a0001c0002t0022g0028 a0001c0002t0023g0013 a0001c0006t0008g0006	8	172	0.0465	-12	c.779 others(27): Show c.779-193_779-182delGAGAAGCTCCTG		CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11						chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689061	AATATATA others(5): Show AATATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0050 a0004c0005t0050	a0004c0005t0050g0072 a0004c0005t0050g0072	1	172	0.0058	-12	c.779 others(27): Show c.779-270_779-259delACATATATATAT		CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11						chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689512	ATCTCTAT others(5): Show ATCTCTATATATC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0050 a0004c0005t0050	a0004c0005t0050g0072 a0004c0005t0050g0072	1	172	0.0058	-12	c.779 others(27): Show c.779-721_779-710delGATATATAGAGA		CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11						chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110697814	CCACACAC others(5): Show CCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp1 HG03041.hp2 others(6): Show HG02622.hp2 HG02897.hp1 HG03041.hp2 HG03490.hp1 HG03654.hp1 NA18906.hp2 NA18959.hp1 NA18970.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 a0001c0002t0006 a0002c0003t0041 a0002c0003t0043 a0002c0003t0045	a0001c0001t0001g0061 a0001c0001t0002g0107 a0001c0001t0002g0124 others(6): Show a0001c0001t0001g0061 a0001c0001t0002g0107 a0001c0001t0002g0124 a0001c0001t0005g0100 a0001c0002t0003g0031 a0001c0002t0006g0030 a0002c0003t0041g0024 a0002c0003t0043g0016 a0002c0003t0045g0008	9	172	0.0523	-12	c.609 others(29): Show c.609+2828_609+2839delTGTGTGTGTGTG		CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	7/11						chrX	TogoVar
CHRD_chr3_184375054_184394829	184388225	CTCCATCC others(5): Show CTCCATCCATCCG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 HG02717.hp1 HG02886.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0058 a0002c0009t0001g0058	2	428	0.0047	-12	c.255 others(29): Show c.2554+204_2554+215delGTCCATCCATCC		CHRD	ENSG00000090539.16	transcript	ENST00000204604.6	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHRD_chr3_184375054_184394829	184388387	GCATCCAT others(5): Show GCATCCATCCATC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(55): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00733.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01978.hp1 HG01993.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02165.hp2 HG02486.hp2 HG02647.hp1 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp1 NA18941.hp1 NA18959.hp2 NA18963.hp2 NA18975.hp1 NA18984.hp1 NA19011.hp1 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19065.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 others(3): Show a0001 a0005 a0007 a0009 a0012 a0015	a0001c0001 a0001c0003 a0001c0008 others(8): Show a0001c0001 a0001c0003 a0001c0008 a0001c0011 a0001c0037 a0005c0006 a0007c0028 a0007c0029 a0009c0036 a0012c0030 a0015c0032	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0011t0001 a0001c0037t0001 a0005c0006t0001 a0007c0028t0001 a0007c0029t0001 a0009c0036t0001 a0012c0030t0001 a0015c0032t0001	a0001c0001t0001g0054 a0001c0001t0001g0101 a0001c0001t0001g0114 others(22): Show a0001c0001t0001g0054 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0003t0001g0002 a0001c0003t0001g0009 a0001c0003t0001g0016 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0008t0001g0068 a0001c0011t0001g0002 a0001c0011t0001g0016 a0001c0011t0001g0035 a0001c0011t0001g0176 a0001c0037t0001g0002 a0005c0006t0001g0136 a0007c0028t0001g0171 a0007c0029t0001g0172 a0009c0036t0001g0037 a0012c0030t0001g0009 a0015c0032t0001g0054	58	428	0.1355	-12	c.255 others(29): Show c.2555-166_2555-155delATCCATCCATCC		CHRD	ENSG00000090539.16	transcript	ENST00000204604.6	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHRFAM7A_chr15_30355566_30398540	30365801	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02897.hp1 HG03486.hp2 others(2): Show HG02647.hp2 HG02897.hp1 HG03486.hp2 HG03669.hp1 HG03669.hp2	a0002 a0005 a0002 a0005	a0002c0008 a0002c0017 a0002c0026 others(1): Show a0002c0008 a0002c0017 a0002c0026 a0005c0005	a0002c0008t0017 a0002c0017t0006 a0002c0026t0010 others(1): Show a0002c0008t0017 a0002c0017t0006 a0002c0026t0010 a0005c0005t0005	a0002c0008t0017g0126 a0002c0008t0017g0127 a0002c0017t0006g0027 others(2): Show a0002c0008t0017g0126 a0002c0008t0017g0127 a0002c0017t0006g0027 a0002c0026t0010g0121 a0005c0005t0005g0043	5	133	0.0376	-12	c.720 others(29): Show c.720+1605_720+1616delAAAAAAAAAAAA		CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding	9/9						chr15	TogoVar
CHRM1_chr11_62903679_62926363	62924629	GCTCTCTC others(5): Show GCTCTCTCTCTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	420	0.0024	-12	c.-35 others(23): Show c.-3502_-3491delAGAGAGAGAGAG		CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding					3267		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924666	CTCTATAT others(5): Show CTCTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01358.hp1 HG01346.hp1 HG01358.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0025 a0001c0005t0001g0016 a0001c0005t0001g0025	2	420	0.0048	-12	c.-35 others(23): Show c.-3539_-3528delTATATATATAGA		CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding					3304		chr11	TogoVar
CHRM2_chr7_136863652_137025213	136867845	CATATATA others(5): Show CATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0083 a0005c0008t0083	a0005c0008t0083g0104 a0005c0008t0083g0104	1	320	0.0031	-12	c.-14 others(23): Show c.-1429_-1418delATATATATATAT		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding					806		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136930898	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0135 a0001c0001t0005g0135	1	320	0.0031	-12	c.-12 others(33): Show c.-124-61271_-124-61260delAAAAAAAAAAAA		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	136933037	AATAAATA others(5): Show AATAAATAAATAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(60): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01099.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp2 HG01516.hp2 HG02015.hp2 HG02273.hp1 HG02523.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03098.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 NA18612.hp2 NA18939.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18991.hp2 NA19000.hp1 NA19007.hp2 NA19012.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0030 a0001c0001t0034 a0001c0001t0037 a0001c0001t0043 a0001c0001t0045 a0001c0001t0059 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0072 a0001c0001t0082 a0001c0002t0002 a0002c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0040 others(59): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0219 a0001c0001t0001g0282 a0001c0001t0001g0289 a0001c0001t0001g0314 a0001c0001t0002g0011 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0116 a0001c0001t0002g0154 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0293 a0001c0001t0003g0220 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0004g0077 a0001c0001t0004g0184 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0271 a0001c0001t0005g0162 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0006g0185 a0001c0001t0006g0213 a0001c0001t0007g0141 a0001c0001t0007g0204 a0001c0001t0008g0272 a0001c0001t0010g0250 a0001c0001t0014g0052 a0001c0001t0019g0039 a0001c0001t0021g0045 a0001c0001t0030g0205 a0001c0001t0034g0110 a0001c0001t0037g0053 a0001c0001t0043g0246 a0001c0001t0045g0260 a0001c0001t0059g0134 a0001c0001t0064g0003 a0001c0001t0065g0175 a0001c0001t0066g0044 a0001c0001t0068g0167 a0001c0001t0069g0163 a0001c0001t0072g0244 a0001c0001t0082g0159 a0001c0002t0002g0036 a0002c0004t0002g0165 a0002c0004t0002g0169	63	320	0.1969	-12	c.-12 others(33): Show c.-124-59138_-124-59127delCATAAATAAATA		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	136938915	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp2 HG01168.hp2 others(27): Show HG00323.hp1 HG00673.hp2 HG01168.hp2 HG01175.hp1 HG01884.hp1 HG01952.hp2 HG01978.hp2 HG02109.hp1 HG02451.hp2 HG02630.hp2 HG02683.hp1 HG02895.hp1 HG03195.hp1 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp2 NA18906.hp1 NA18945.hp1 NA18947.hp2 NA18955.hp1 NA18956.hp2 NA18963.hp2 NA18971.hp1 NA18975.hp2 NA18989.hp2 NA18995.hp2 NA19063.hp1 NA19063.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0001t0044 a0001c0001t0058 a0001c0001t0076 a0001c0002t0017 a0001c0005t0006 a0001c0011t0001	a0001c0001t0001g0012 a0001c0001t0001g0121 a0001c0001t0001g0133 others(27): Show a0001c0001t0001g0012 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0267 a0001c0001t0001g0290 a0001c0001t0001g0307 a0001c0001t0002g0015 a0001c0001t0002g0035 a0001c0001t0002g0270 a0001c0001t0003g0231 a0001c0001t0004g0076 a0001c0001t0004g0080 a0001c0001t0004g0202 a0001c0001t0006g0264 a0001c0001t0009g0297 a0001c0001t0012g0060 a0001c0001t0014g0093 a0001c0001t0015g0046 a0001c0001t0015g0048 a0001c0001t0016g0118 a0001c0001t0025g0094 a0001c0001t0026g0136 a0001c0001t0044g0257 a0001c0001t0058g0237 a0001c0001t0076g0109 a0001c0002t0017g0240 a0001c0005t0006g0279 a0001c0011t0001g0038	30	320	0.0938	-12	c.-12 others(33): Show c.-124-53235_-124-53224delAAAAAAAAAAAA		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137000547	AGAAGGAA others(5): Show AGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0045 a0001c0001t0021g0045	1	320	0.0031	-12	c.-47 others(29): Show c.-47+8317_-47+8328delAAGGAAGGAAGG		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137003473	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp2 others(33): Show HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00639.hp2 HG01081.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01358.hp1 HG01952.hp2 HG02004.hp2 HG02056.hp2 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02630.hp1 HG02738.hp1 HG02738.hp2 HG02970.hp2 HG03704.hp2 HG03710.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18950.hp1 NA18952.hp1 NA18964.hp2 NA18989.hp1 NA19000.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp1 NA19085.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0020 a0001c0001t0027 a0001c0001t0041 a0001c0001t0045 a0001c0001t0052 a0001c0001t0056 a0001c0001t0060 a0001c0001t0063 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0076 a0001c0001t0081	a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0032 others(33): Show a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0254 a0001c0001t0001g0289 a0001c0001t0002g0183 a0001c0001t0003g0236 a0001c0001t0004g0076 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0005g0142 a0001c0001t0006g0153 a0001c0001t0006g0212 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0020g0099 a0001c0001t0020g0100 a0001c0001t0027g0018 a0001c0001t0027g0020 a0001c0001t0041g0318 a0001c0001t0045g0260 a0001c0001t0052g0206 a0001c0001t0056g0216 a0001c0001t0060g0019 a0001c0001t0063g0283 a0001c0001t0068g0167 a0001c0001t0069g0163 a0001c0001t0070g0186 a0001c0001t0076g0109 a0001c0001t0081g0017	36	320	0.1125	-12	c.-47 others(31): Show c.-47+11262_-47+11273delACACACACACAC		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137023734	TGATAGAT others(5): Show TGATAGATAGATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02809.hp2 NA19012.hp1 HG02738.hp2 HG02809.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0056 a0001c0001t0001 a0001c0001t0018 a0001c0001t0056	a0001c0001t0001g0166 a0001c0001t0018g0041 a0001c0001t0056g0216 a0001c0001t0001g0166 a0001c0001t0018g0041 a0001c0001t0056g0216	3	320	0.0094	-12	c.74 others(23): Show c.7469_*7480delGATAGATAGATA		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding					3522		chr7	TogoVar
CHRM3_chr1_239381568_239920450	239383367	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG02040.hp2 others(3): Show HG00609.hp1 HG00609.hp2 HG02040.hp2 HG02735.hp2 NA19012.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0050 a0002c0002t0002 a0001c0001t0001 a0001c0001t0050 a0002c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0083 a0001c0001t0050g0015 a0002c0002t0002g0012	6	116	0.0517	-12	c.-43 others(23): Show c.-4380_-4369delTTTCTTTCTTTC		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding					3200		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239383409	TTCTTTCT others(5): Show TTCTTTCTTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01106.hp1 others(10): Show HG00140.hp2 HG00639.hp1 HG01106.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG02258.hp1 HG03098.hp1 HG03239.hp1 HG03831.hp1 NA18906.hp1 NA19000.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0001t0026 a0001c0001t0037 a0001c0001t0042 a0003c0004t0041	a0001c0001t0001g0109 a0001c0001t0003g0057 a0001c0001t0003g0115 others(10): Show a0001c0001t0001g0109 a0001c0001t0003g0057 a0001c0001t0003g0115 a0001c0001t0004g0064 a0001c0001t0007g0060 a0001c0001t0009g0045 a0001c0001t0010g0031 a0001c0001t0010g0110 a0001c0001t0020g0036 a0001c0001t0026g0091 a0001c0001t0037g0029 a0001c0001t0042g0080 a0003c0004t0041g0043	13	116	0.1121	-12	c.-43 others(23): Show c.-4338_-4327delTCTTTCTTTCTC		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding					3158		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239385815	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	116	0.0086	-12	c.-19 others(23): Show c.-1932_-1921delTCTTTCTTTCTT		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding					752		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239385936	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02922.hp2 HG03041.hp1 others(1): Show HG01981.hp1 HG02922.hp2 HG03041.hp1 HG03471.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0025 a0001c0001t0040 a0001c0001t0046 others(1): Show a0001c0001t0025 a0001c0001t0040 a0001c0001t0046 a0004c0003t0053	a0001c0001t0025g0097 a0001c0001t0040g0102 a0001c0001t0046g0100 others(1): Show a0001c0001t0025g0097 a0001c0001t0040g0102 a0001c0001t0046g0100 a0004c0003t0053g0099	4	116	0.0345	-12	c.-18 others(23): Show c.-1811_-1800delGTGTGTGTGTGT		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding					631		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239401496	CTTTTTTT others(5): Show CTTTTTTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03195.hp2 HG03209.hp1 others(2): Show HG03130.hp2 HG03195.hp2 HG03209.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0035 a0001c0001t0039 others(2): Show a0001c0001t0019 a0001c0001t0035 a0001c0001t0039 a0001c0001t0055 a0001c0001t0061	a0001c0001t0019g0025 a0001c0001t0035g0026 a0001c0001t0039g0112 others(2): Show a0001c0001t0019g0025 a0001c0001t0035g0026 a0001c0001t0039g0112 a0001c0001t0055g0113 a0001c0001t0061g0027	5	116	0.0431	-12	c.-52 others(33): Show c.-521+14275_-521+14286delTTTTTCTTTTTT		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404350	GAGAAAGA others(5): Show GAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19043.hp2 HG04115.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0044 a0001c0001t0016 a0001c0001t0044	a0001c0001t0016g0101 a0001c0001t0044g0104 a0001c0001t0016g0101 a0001c0001t0044g0104	2	116	0.0172	-12	c.-52 others(33): Show c.-521+17173_-521+17184delGAAAGAAAGAAA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404400	GAAAGAAA others(5): Show GAAAGAAAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03130.hp2 HG01346.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0055 a0001c0001t0011 a0001c0001t0055	a0001c0001t0011g0071 a0001c0001t0055g0113 a0001c0001t0011g0071 a0001c0001t0055g0113	2	116	0.0172	-12	c.-52 others(33): Show c.-521+17175_-521+17186delAAGAAAGAAAAA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404402	AAGAAAGA others(5): Show AAGAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA21309.hp1 HG03540.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0036 a0001c0001t0029 a0001c0001t0036	a0001c0001t0029g0090 a0001c0001t0036g0094 a0001c0001t0029g0090 a0001c0001t0036g0094	2	116	0.0172	-12	c.-52 others(33): Show c.-521+17177_-521+17188delGAAAGAAAAAGA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404410	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	116	0.0086	-12	c.-52 others(33): Show c.-521+17231_-521+17242delGAAAGAAAGAAA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239580258	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02258.hp2 others(6): Show HG01109.hp1 HG01243.hp2 HG02258.hp2 HG03139.hp1 HG03209.hp1 HG06807.hp2 NA19043.hp2 NA19068.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 others(6): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0056 a0001c0001t0061 a0001c0005t0048	a0001c0001t0002g0074 a0001c0001t0009g0111 a0001c0001t0016g0101 others(6): Show a0001c0001t0002g0074 a0001c0001t0009g0111 a0001c0001t0016g0101 a0001c0001t0019g0025 a0001c0001t0020g0021 a0001c0001t0024g0088 a0001c0001t0056g0079 a0001c0001t0061g0027 a0001c0005t0048g0081	9	116	0.0776	-12	c.-31 others(33): Show c.-313+34548_-313+34559delCACACACACACA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239589638	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02970.hp2 NA18906.hp1 HG02615.hp2 HG02970.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0019 a0001c0001t0004 a0001c0001t0009 a0001c0001t0019	a0001c0001t0004g0035 a0001c0001t0009g0045 a0001c0001t0019g0040 a0001c0001t0004g0035 a0001c0001t0009g0045 a0001c0001t0019g0040	3	116	0.0259	-12	c.-31 others(33): Show c.-312-42565_-312-42554delTATATATATATA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239662105	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0078 a0001c0001t0013g0078	1	116	0.0086	-12	c.-24 others(33): Show c.-249-16053_-249-16042delGTGTGTGTGTGT		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239759186	TTTTTTTT others(5): Show TTTTTTTTTTTAG	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0027 a0001c0001t0061g0027	1	116	0.0086	-12	c.-14 others(33): Show c.-146-68065_-146-68054delTTTTTTTTTTAG		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6						chr1	TogoVar
CHRM3_chr1_239381568_239920450	239766672	TATATAGA others(5): Show TATATAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00609.hp1 others(27): Show HG00140.hp1 HG00140.hp2 HG00609.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01109.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02735.hp1 HG02738.hp2 HG03239.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 NA18939.hp2 NA19012.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0028 a0001c0001t0031 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0059 a0002c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0013 others(27): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0083 a0001c0001t0001g0109 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0107 a0001c0001t0003g0047 a0001c0001t0004g0024 a0001c0001t0004g0064 a0001c0001t0006g0065 a0001c0001t0007g0055 a0001c0001t0007g0060 a0001c0001t0008g0067 a0001c0001t0008g0082 a0001c0001t0011g0071 a0001c0001t0028g0017 a0001c0001t0031g0116 a0001c0001t0043g0046 a0001c0001t0044g0104 a0001c0001t0045g0014 a0001c0001t0047g0070 a0001c0001t0049g0108 a0001c0001t0051g0034 a0001c0001t0059g0062 a0002c0002t0002g0012	30	116	0.2586	-12	c.-14 others(33): Show c.-146-60544_-146-60533delGATATAGATATA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239859819	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(43): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG02040.hp1 HG02083.hp1 HG02451.hp2 HG02735.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp2 NA18955.hp2 NA19000.hp1 NA19030.hp1 NA19043.hp2 NA19068.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0061	a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0001g0054 others(43): Show a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0083 a0001c0001t0001g0109 a0001c0001t0002g0037 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0107 a0001c0001t0003g0047 a0001c0001t0003g0057 a0001c0001t0003g0115 a0001c0001t0004g0016 a0001c0001t0004g0024 a0001c0001t0004g0064 a0001c0001t0005g0041 a0001c0001t0005g0073 a0001c0001t0006g0003 a0001c0001t0006g0065 a0001c0001t0007g0055 a0001c0001t0008g0067 a0001c0001t0008g0072 a0001c0001t0009g0038 a0001c0001t0016g0101 a0001c0001t0016g0114 a0001c0001t0017g0004 a0001c0001t0022g0008 a0001c0001t0026g0091 a0001c0001t0027g0020 a0001c0001t0028g0017 a0001c0001t0032g0086 a0001c0001t0039g0112 a0001c0001t0043g0046 a0001c0001t0044g0104 a0001c0001t0045g0014 a0001c0001t0046g0100 a0001c0001t0047g0070 a0001c0001t0050g0015 a0001c0001t0051g0034 a0001c0001t0052g0106 a0001c0001t0055g0113 a0001c0001t0056g0079 a0001c0001t0061g0027	46	116	0.3966	-12	c.-20 others(31): Show c.-20+32462_-20+32473delTATATATATATA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM5_chr15_33963497_34072458	33983148	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01257.hp2 others(9): Show HG01168.hp2 HG01169.hp2 HG01257.hp2 HG01358.hp2 HG01952.hp1 HG02293.hp2 NA18951.hp2 NA18971.hp2 NA18987.hp2 NA18998.hp1 NA19060.hp2 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0008 a0001c0002t0005 a0001c0002t0008	a0001c0002t0005g0075 a0001c0002t0005g0101 a0001c0002t0005g0102 others(9): Show a0001c0002t0005g0075 a0001c0002t0005g0101 a0001c0002t0005g0102 a0001c0002t0005g0143 a0001c0002t0005g0144 a0001c0002t0005g0208 a0001c0002t0008g0026 a0001c0002t0008g0027 a0001c0002t0008g0028 a0001c0002t0008g0029 a0001c0002t0008g0031 a0001c0002t0008g0042	12	338	0.0355	-12	c.-40 others(33): Show c.-408+14012_-408+14023delGTGTGTGTGTAT		CHRM5	ENSG00000184984.10	transcript	ENST00000383263.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRM5_chr15_33963497_34072458	33986633	GACCATAA others(5): Show GACCATAAGGCTC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp2 HG01169.hp1 others(14): Show HG01069.hp2 HG01106.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01515.hp2 HG01516.hp1 HG02602.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG03942.hp1 HG04228.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0017 others(1): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0017 a0001c0001t0038	a0001c0001t0004g0001 a0001c0001t0004g0056 a0001c0001t0004g0057 others(13): Show a0001c0001t0004g0001 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0177 a0001c0001t0004g0210 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0010g0052 a0001c0001t0010g0053 a0001c0001t0010g0054 a0001c0001t0010g0291 a0001c0001t0017g0206 a0001c0001t0017g0238 a0001c0001t0017g0239 a0001c0001t0017g0240 a0001c0001t0038g0241	17	338	0.0503	-12	c.-40 others(33): Show c.-408+17484_-408+17495delACCATAAGGCTC		CHRM5	ENSG00000184984.10	transcript	ENST00000383263.7	protein_coding	1/2						chr15	TogoVar
CHRM5_chr15_33963497_34072458	33989450	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	338	0.0030	-12	c.-40 others(33): Show c.-408+20303_-408+20314delAAAAAAAAAAAA		CHRM5	ENSG00000184984.10	transcript	ENST00000383263.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRM5_chr15_33963497_34072458	34038912	CCCGCCGC others(5): Show CCCGCCGCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp2 HG01106.hp2 others(16): Show HG00099.hp1 HG01069.hp2 HG01106.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01515.hp2 HG01516.hp1 HG02602.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG03927.hp1 HG03942.hp1 HG04228.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0017 a0001c0001t0038	a0001c0001t0002g0134 a0001c0001t0004g0001 a0001c0001t0004g0056 others(15): Show a0001c0001t0002g0134 a0001c0001t0004g0001 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0103 a0001c0001t0004g0177 a0001c0001t0004g0210 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0010g0052 a0001c0001t0010g0053 a0001c0001t0010g0054 a0001c0001t0010g0291 a0001c0001t0017g0206 a0001c0001t0017g0238 a0001c0001t0017g0239 a0001c0001t0017g0240 a0001c0001t0038g0241	19	338	0.0562	-12	c.-40 others(31): Show c.-407-7614_-407-7603delCGCCGCCGCCTC		CHRM5	ENSG00000184984.10	transcript	ENST00000383263.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRM5_chr15_33963497_34072458	34058555	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0323 a0001c0001t0003g0323	1	338	0.0030	-12	c.-75 others(29): Show c.-75-4060_-75-4049delCACACACACACA		CHRM5	ENSG00000184984.10	transcript	ENST00000383263.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA2_chr8_27454756_27484261	27457987	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA19059.hp2 NA18974.hp2 NA19059.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	2	458	0.0044	-12	c.36 others(23): Show c.3630_*3641delCTTTTTTTTTTT		CHRNA2	ENSG00000120903.13	transcript	ENST00000407991.3	protein_coding					1768		chr8	TogoVar
CHRNA4_chr20_63338223_63366349	63356063	GCAGCTTG others(5): Show GCAGCTTGTAGTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0008 a0004c0010t0008	a0004c0010t0008g0046 a0004c0010t0008g0046	1	168	0.0060	-12	c.283 others(19): Show c.283_294delGACTACAAGCTG	p.Asp others(11): Show p.Asp95_Leu98del	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/6	478/5583	283/1884	95/627			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63359897	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0143 a0001c0004t0007g0143	1	168	0.0060	-12	c.77- others(25): Show c.77-210_77-199delCACACACACACA		CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	1/5						chr20	TogoVar
CHRNA5_chr15_78560520_78600269	78563331	GAAAAAAA others(5): Show GAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00733.hp2 others(34): Show HG00408.hp1 HG00597.hp1 HG00733.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp1 HG01346.hp1 HG01358.hp2 HG02055.hp1 HG02074.hp1 HG02258.hp1 HG02622.hp1 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp1 NA18522.hp2 NA18952.hp1 NA18960.hp1 NA18975.hp2 NA18977.hp1 NA18983.hp2 NA18989.hp2 NA19005.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19084.hp2 NA19085.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0027 a0001c0001t0028	a0001c0001t0002g0069 a0001c0001t0005g0001 a0001c0001t0005g0034 others(25): Show a0001c0001t0002g0069 a0001c0001t0005g0001 a0001c0001t0005g0034 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0215 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0007g0009 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0012g0136 a0001c0001t0012g0137 a0001c0001t0012g0219 a0001c0001t0014g0174 a0001c0001t0014g0175 a0001c0001t0014g0176 a0001c0001t0017g0220 a0001c0001t0017g0221 a0001c0001t0027g0021 a0001c0001t0028g0022	37	382	0.0969	-12	c.-23 others(23): Show c.-2388_-2377delAAAAAAAAAAAA		CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding					2188		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78579237	ATTTGTTT others(5): Show ATTTGTTTGTTTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0135 a0001c0001t0008g0135	1	382	0.0026	-12	c.107 others(29): Show c.107-1554_107-1543delGTTTGTTTGTTT		CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr15	TogoVar

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