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
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19000.hp2 NA20905.hp1 HG02723.hp2 NA19000.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0220 a0001c0001t0002g0231 a0001c0002t0001g0274 a0001c0001t0002g0220 a0001c0001t0002g0231 a0001c0002t0001g0274	3	324	0.0093	24	c.853 others(41): Show c.853-4744_853-4721dupTTTTTTTTTTTTTTTTTTTTTTTT		CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36						chr20	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20129.hp2 HG02280.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0045 a0001c0001t0007g0122 a0001c0001t0001g0045 a0001c0001t0007g0122	2	238	0.0084	24	c.-16 others(43): Show c.-164-9489_-164-9488insTATATATATATATATATATATATA		CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATGTAT others(17): Show GTATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02027.hp1 HG00621.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0085 a0001c0001t0001g0064 a0001c0001t0001g0085	2	238	0.0084	24	c.-16 others(43): Show c.-164-9504_-164-9503insGTATATATATATATATATATATAT		CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHFR_chr12_132827356_132892605	132850964	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19043.hp1 HG02970.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0024 a0001c0005t0076 a0001c0005t0024 a0001c0005t0076	a0001c0005t0024g0174 a0001c0005t0076g0173 a0001c0005t0024g0174 a0001c0005t0076g0173	2	378	0.0053	24	c.149 others(41): Show c.1492+630_1492+653dupATATATATATATATATATATATAT		CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	12/17						chr12	TogoVar
CHGA_chr14_92918150_92940285	92934709	G G	GGCCACAC others(17): Show GGCCACACAGCTAACCCAGCGCCTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0102 a0003c0004t0001g0102	1	447	0.0022	24	c.129 others(39): Show c.1291-91_1291-68dupGCCACACAGCTAACCCAGCGCCTT		CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
CHGB_chr20_5906510_5930353	5926122	T T	TATATATA others(17): Show TATATATACATATATATATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0013 a0005c0005t0001g0013	1	440	0.0023	24	c.10 others(35): Show c.1073_*1074insATATATACATATATATATATATAG		CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding					770		chr20	TogoVar
CHIT1_chr1_203211079_203234673	203217822	C C	CAGACCAT others(17): Show CAGACCATGGCCCCGCCCAGTCCCT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0001 a0009 a0013 others(5): Show a0001 a0009 a0013 a0016 a0017 a0018 a0020 a0023	a0001c0001 a0001c0022 a0001c0025 others(8): Show a0001c0001 a0001c0022 a0001c0025 a0001c0029 a0009c0009 a0013c0015 a0016c0017 a0017c0028 a0018c0027 a0020c0024 a0023c0018	a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 a0001c0025t0001 a0001c0029t0001 a0009c0009t0001 a0013c0015t0001 a0016c0017t0001 a0017c0028t0001 a0018c0027t0001 a0020c0024t0001 a0023c0018t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0004g0048 a0001c0022t0001g0100 a0001c0025t0001g0101 a0001c0029t0001g0116 a0009c0009t0001g0027 a0009c0009t0001g0047 a0009c0009t0001g0125 a0013c0015t0001g0046 a0016c0017t0001g0136 a0017c0028t0001g0102 a0018c0027t0001g0153 a0020c0024t0001g0107 a0023c0018t0001g0096	175	484	0.3616	24	c.104 others(33): Show c.1049_1072dupAGGGACTGGGCGGGGCCATGGTCT	p.Val others(37): Show p.Val357_Trp358insTerGlyLeuGlyGlyAlaMetVal	CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	10/11	1109/2248	1072/1401	358/466			chr1	TogoVar
CHL1_chr3_191763_414417	194897	A A	ATCCTTCC others(17): Show ATCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02615.hp1 HG02622.hp2 others(3): Show HG02257.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02809.hp1 HG03471.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0037 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0037 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0004c0004t0008	a0001c0001t0037g0238 a0002c0002t0001g0125 a0002c0002t0002g0250 others(3): Show a0001c0001t0037g0238 a0002c0002t0001g0125 a0002c0002t0002g0250 a0003c0003t0001g0106 a0004c0004t0008g0235 a0004c0004t0008g0236	6	290	0.0207	24	c.-23 others(35): Show c.-2341_-2340insTCCTTCCTTCCTTCCTTCCTTCCT		CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding					1865		chr3	TogoVar
CHL1_chr3_191763_414417	194906	C C	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0006 a0003c0003t0005g0006	1	290	0.0035	24	c.-23 others(35): Show c.-2332_-2331insCCTTCCTTCCTTCCTTCCTTCCTT		CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding					1856		chr3	TogoVar
CHMP7_chr8_23238637_23266999	23241367	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	438	0.0023	24	c.-29 others(35): Show c.-2918_-2917insTTTTTTTTTTTTTTTTTTTTTTTT		CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding					2269		chr8	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02559.hp1 HG02809.hp2 HG00323.hp1 HG02559.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0122 a0001c0001t0001g0174 a0001c0001t0006g0116 a0001c0001t0001g0122 a0001c0001t0001g0174 a0001c0001t0006g0116	3	245	0.0122	24	c.116 others(43): Show c.1167-2018_1167-1995dupCTTTCTTTCTTTCTTTCTTTCTTT		CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14						chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG01993.hp1 others(10): Show HG00280.hp1 HG00609.hp1 HG01993.hp1 HG02027.hp1 HG02074.hp1 HG02080.hp1 NA18974.hp1 NA18986.hp1 NA19043.hp1 NA19082.hp1 NA19083.hp1 NA19086.hp1 NA19089.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0007c0007t0023	a0001c0001t0001g0087 a0001c0001t0001g0113 a0001c0001t0001g0181 others(10): Show a0001c0001t0001g0087 a0001c0001t0001g0113 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0003g0088 a0001c0001t0003g0134 a0001c0001t0003g0173 a0001c0001t0005g0100 a0001c0001t0010g0165 a0001c0001t0010g0166 a0007c0007t0023g0162	13	245	0.0531	24	c.116 others(43): Show c.1166+6151_1166+6174dupATATATATATATATATATATATAT		CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14						chrX	TogoVar
CHM_chrX_85856180_86052558	85981204	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02451.hp2 HG02572.hp1	a0003 a0008 a0003 a0008	a0003c0004 a0008c0011 a0003c0004 a0008c0011	a0003c0004t0014 a0008c0011t0006 a0003c0004t0014 a0008c0011t0006	a0003c0004t0014g0235 a0008c0011t0006g0230 a0003c0004t0014g0235 a0008c0011t0006g0230	2	245	0.0082	24	c.189 others(39): Show c.189+532_189+533insTATATATATATATATATATATATA		CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14						chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG02280.hp1 others(4): Show HG00738.hp1 HG01884.hp1 HG02280.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0005c0009t0012	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 others(4): Show a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0004g0218 a0001c0001t0016g0212 a0005c0009t0012g0225	7	245	0.0286	24	c.189 others(39): Show c.189+530_189+531insTATATATATATATATATATATATA		CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14						chrX	TogoVar
CHN1_chr2_174793809_175010381	174858979	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	276	0.0036	24	c.550 others(43): Show c.550-12046_550-12023dupGTGTGTGTGTGTGTGTGTGTGTGT		CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12						chr2	TogoVar
CHN2_chr7_29189775_29519328	29195595	C C	CGAGAGAG others(17): Show CGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	232	0.0043	24	c.49+ others(37): Show c.49+617_49+640dupAGAGAGAGAGAGAGAGAGAGAGAG		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0022 a0001c0001t0007g0022	1	232	0.0043	24	c.49+ others(37): Show c.49+640_49+641insAGAGAGAGAGAGAGAGAGAGTGTG		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18972.hp2 NA18998.hp2 others(1): Show HG02818.hp2 NA18972.hp2 NA18998.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0002c0004t0001	a0001c0001t0001g0029 a0001c0001t0003g0032 a0001c0002t0002g0030 others(1): Show a0001c0001t0001g0029 a0001c0001t0003g0032 a0001c0002t0002g0030 a0002c0004t0001g0031	4	232	0.0172	24	c.49+ others(37): Show c.49+640_49+641insAGAGAGAGAGAGAGAGAGTGTGTG		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0046 a0001c0001t0011g0046	1	232	0.0043	24	c.49+ others(37): Show c.49+640_49+641insAGAGAGAGAGAGAGAGTGTGTGTG		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTGTTTT others(17): Show GTTGTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	232	0.0043	24	c.49+ others(41): Show c.49+57590_49+57591insGTTTTTTTTTTTTTTTTTTTTTTT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp2 HG02280.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0010 a0001c0005t0001 a0001c0002t0010 a0001c0005t0001	a0001c0002t0010g0210 a0001c0005t0001g0051 a0001c0002t0010g0210 a0001c0005t0001g0051	2	232	0.0086	24	c.49+ others(41): Show c.49+57593_49+57616dupTTTTTTTTTTTTTTTTTTTTTTTT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273349	A A	ATATATAT others(17): Show ATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	232	0.0043	24	c.49+ others(41): Show c.49+78380_49+78381insGTGTATATATATATATATATATAT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273351	A A	ATATATAT others(17): Show ATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	232	0.0043	24	c.49+ others(41): Show c.49+78382_49+78383insGTGTATATATATATATATATATAT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273353	A A	ATATATAT others(17): Show ATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0122 a0001c0001t0007g0122	1	232	0.0043	24	c.49+ others(41): Show c.49+78384_49+78385insGTGTATATATATATATATATATAT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29305805	T T	TTCCTCCT others(17): Show TTCCTCCTCGTCTTTCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00639.hp1 others(43): Show HG00140.hp1 HG00323.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01433.hp1 HG01517.hp2 HG01934.hp2 HG01981.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02572.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 NA18948.hp1 NA18982.hp2 NA18984.hp1 NA18991.hp2 NA19060.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0016 a0001c0006t0022 a0002c0003t0002 a0002c0003t0004 a0002c0003t0018 a0002c0004t0001 a0002c0004t0007 a0003c0007t0013	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0025 others(43): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0188 a0001c0001t0003g0087 a0001c0001t0003g0093 a0001c0001t0003g0106 a0001c0001t0003g0231 a0001c0001t0005g0023 a0001c0001t0005g0129 a0001c0001t0006g0001 a0001c0001t0006g0020 a0001c0001t0006g0039 a0001c0001t0007g0122 a0001c0001t0008g0008 a0001c0001t0008g0010 a0001c0001t0008g0011 a0001c0001t0008g0139 a0001c0001t0009g0090 a0001c0001t0009g0158 a0001c0001t0009g0232 a0001c0001t0011g0053 a0001c0001t0023g0206 a0001c0002t0001g0134 a0001c0002t0002g0105 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0168 a0001c0002t0004g0118 a0001c0002t0004g0132 a0001c0002t0004g0207 a0001c0002t0004g0216 a0001c0002t0005g0173 a0001c0002t0010g0167 a0001c0002t0016g0048 a0001c0006t0022g0119 a0002c0003t0002g0069 a0002c0003t0002g0142 a0002c0003t0004g0021 a0002c0003t0018g0047 a0002c0004t0001g0121 a0002c0004t0007g0094 a0003c0007t0013g0013 a0003c0007t0013g0135	46	232	0.1983	24	c.50- others(41): Show c.50-48811_50-48788dupGTCTTTCTCCTCCTCCTCCTCCTC		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29374801	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0037 a0001c0001t0006g0037	1	232	0.0043	24	c.144 others(41): Show c.144+6840_144+6863dupTCCTTCCTTCCTTCCTTCCTTCCT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29437597	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	232	0.0043	24	c.576 others(43): Show c.576+36785_576+36786insAAAAAAAAAAAAAAAAAAAAAAAA		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29442934	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02572.hp2 HG02922.hp1 others(1): Show HG01167.hp2 HG02572.hp2 HG02922.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0034 a0001c0001t0003g0190 a0001c0002t0002g0165 others(1): Show a0001c0001t0001g0034 a0001c0001t0003g0190 a0001c0002t0002g0165 a0001c0002t0002g0171	4	232	0.0172	24	c.577 others(43): Show c.577-37328_577-37327insTTTTTTTTTTTTTTTTTTTTTTTT		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHP2_chr16_23750026_23763935	23759381	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00733.hp1 others(27): Show HG00280.hp2 HG00423.hp1 HG00733.hp1 HG01069.hp2 HG01106.hp1 HG01168.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG02027.hp2 HG02055.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG03225.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG04204.hp2 NA18906.hp2 NA18944.hp1 NA18982.hp2 NA19007.hp2 NA19010.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0004g0009 a0001c0001t0008g0004	30	392	0.0765	24	c.17 others(35): Show c.1798_*1799insTTCTTTCTTTCTTTCTTTCTTTCT		CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding					447		chr16	TogoVar
CHRDL1_chrX_110668856_110800817	110674457	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0003 a0001c0001t0036g0003	1	172	0.0058	24	c.17 others(35): Show c.1750_*1773dupTGTGTGTGTGTGTGTGTGTGTGTG		CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	12/12				1773		chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689598	A A	ATATATAT others(17): Show ATATATATCTATATATCTATATATC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	172	0.0058	24	c.779 others(39): Show c.779-819_779-796dupGATATATAGATATATAGATATATA		CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11						chrX	TogoVar
CHRFAM7A_chr15_30355566_30398540	30393857	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	133	0.0075	24	c.-76 others(33): Show c.-763_-762insCACACACACACACACACACACACA		CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding					318		chr15	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(17): Show CTCTCTCTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	420	0.0024	24	c.-35 others(35): Show c.-3530_-3529insTATATATATATATATATAGAGAGA		CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding					3306		chr11	TogoVar
CHRM2_chr7_136863652_137025213	137000547	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA19083.hp1 HG03017.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0003 a0001c0001t0029	a0001c0001t0003g0120 a0001c0001t0029g0177 a0001c0001t0003g0120 a0001c0001t0029g0177	2	320	0.0063	24	c.-47 others(41): Show c.-47+8305_-47+8328dupAAGGAAGGAAGGAAGGAAGGAAGG		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137011215	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA19007.hp1 NA20752.hp1 HG02738.hp2 NA19007.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0056 a0001c0001t0086 a0001c0002t0017 a0001c0001t0056 a0001c0001t0086 a0001c0002t0017	a0001c0001t0056g0216 a0001c0001t0086g0058 a0001c0002t0017g0241 a0001c0001t0056g0216 a0001c0001t0086g0058 a0001c0002t0017g0241	3	320	0.0094	24	c.-46 others(41): Show c.-46-3604_-46-3603insGTGTGTGTGTGTATATATATATAT		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239383054	G G	GTCTCTCT others(17): Show GTCTCTCTCTTTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00639.hp2 others(7): Show HG00609.hp1 HG00609.hp2 HG00639.hp2 HG01243.hp2 HG01258.hp2 HG01346.hp1 HG02735.hp2 HG02922.hp1 HG03098.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0021 others(5): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0021 a0001c0001t0042 a0001c0001t0050 a0001c0001t0054 a0001c0001t0056 a0002c0002t0002	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0011g0071 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0011g0071 a0001c0001t0011g0087 a0001c0001t0021g0093 a0001c0001t0042g0080 a0001c0001t0050g0015 a0001c0001t0054g0096 a0001c0001t0056g0079 a0002c0002t0002g0012	10	116	0.0862	24	c.-46 others(35): Show c.-4694_-4693insTCTCTCTCTTTCTCTCTCTCTCTC		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding					3513		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239385815	C C	CTCTCTTT others(17): Show CTCTCTTTCTTTCTTTCTTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0080 a0001c0001t0042g0080	1	116	0.0086	24	c.-19 others(35): Show c.-1933_-1932insTCTCTTTCTTTCTTTCTTTCTTCT		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding					752		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239403976	G G	GGAGAGAG others(17): Show GGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	116	0.0086	24	c.-52 others(45): Show c.-521+16764_-521+16787dupGAGAGAGAGAGAGAGAGAGAGAGA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239634376	C C	CGAAAGAA others(17): Show CGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01433.hp2 others(1): Show HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0045 a0001c0001t0002 a0001c0001t0007 a0001c0001t0045	a0001c0001t0002g0037 a0001c0001t0002g0051 a0001c0001t0007g0055 others(1): Show a0001c0001t0002g0037 a0001c0001t0002g0051 a0001c0001t0007g0055 a0001c0001t0045g0014	4	116	0.0345	24	c.-25 others(43): Show c.-250+2096_-250+2119dupAAAGAAAGAAAGAAAGAAAGAAAG		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239662893	C C	CTCTTCTT others(17): Show CTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	116	0.0086	24	c.-24 others(45): Show c.-249-15277_-249-15254dupTCTTCTTCTTCTTCTTCTTCTTCT		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239766672	T T	TATATAGA others(17): Show TATATAGATATAGATATAGATATAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0026 a0001c0001t0035g0026	1	116	0.0086	24	c.-14 others(45): Show c.-146-60556_-146-60533dupGATATAGATATAGATATAGATATA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA1_chr2_174742592_174769472	174768221	T T	TATACAAT others(17): Show TATACAATAAATTATATATGTAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	24	c.-38 others(35): Show c.-3851_-3828dupGTTTACATATATAATTTATTGTAT		CHRNA1	ENSG00000138435.16	transcript	ENST00000348749.9	protein_coding					3750		chr2	TogoVar
CHRNA4_chr20_63338223_63366349	63351204	A A	ACCCATGC others(17): Show ACCCATGCCCACGTCCACGTCCACG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0013 a0001c0004t0005g0013	1	168	0.0060	24	c.384 others(39): Show c.384-178_384-177insCGTGGACGTGGACGTGGGCATGGG		CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5						chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63359901	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGCCGGGCGTGCGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG04204.hp1 NA18971.hp1 others(2): Show HG01192.hp2 HG04204.hp1 NA18971.hp1 NA18971.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0004 a0001c0002t0001 a0001c0005t0004	a0001c0002t0001g0039 a0001c0002t0001g0050 a0001c0002t0001g0056 others(2): Show a0001c0002t0001g0039 a0001c0002t0001g0050 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0005t0004g0055	5	168	0.0298	24	c.77- others(37): Show c.77-203_77-202insGCGCACGCCCGGCACACACACACA		CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	1/5						chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63359905	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGCCGGGCGTGCGC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0100	1	168	0.0060	24	c.77- others(37): Show c.77-207_77-206insGCGCACGCCCGGCACACACACACA		CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	1/5						chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63359907	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGCCGGGCGTGCGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0133 a0001c0003t0036g0133	1	168	0.0060	24	c.77- others(37): Show c.77-209_77-208insGCGCACGCCCGGCACACACACACA		CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	1/5						chr20	TogoVar
CHRNA5_chr15_78560520_78600269	78570424	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02155.hp1 NA18747.hp2 others(7): Show HG00544.hp1 HG02155.hp1 NA18747.hp2 NA18952.hp2 NA18968.hp1 NA18975.hp2 NA19012.hp2 NA19067.hp2 NA19087.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0002c0002t0003 a0001c0001t0012 a0002c0002t0003	a0001c0001t0012g0137 a0002c0002t0003g0031 a0002c0002t0003g0032 others(5): Show a0001c0001t0012g0137 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0199 a0002c0002t0003g0208	10	382	0.0262	24	c.106 others(41): Show c.106+4601_106+4624dupTTTTTTTTTTTTTTTTTTTTTTTT		CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32044253	C C	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp1 HG01361.hp1 others(2): Show HG00323.hp1 HG01099.hp1 HG01361.hp1 HG02698.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 a0001c0001 a0001c0003 a0001c0014	a0001c0001t0012 a0001c0003t0001 a0001c0014t0001 a0001c0001t0012 a0001c0003t0001 a0001c0014t0001	a0001c0001t0012g0291 a0001c0001t0012g0293 a0001c0003t0001g0289 others(2): Show a0001c0001t0012g0291 a0001c0001t0012g0293 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0014t0001g0292	5	307	0.0163	24	c.195 others(43): Show c.195+13227_195+13250dupCTTCCTTCCTTCCTTCCTTCCTTC		CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32049025	G G	GTCTGAAA others(17): Show GTCTGAAAGACAGTTTGTTATAATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp2 others(129): Show HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18961.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA19091.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(46): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0023 a0001c0001t0029 a0001c0001t0047 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0025 a0001c0002t0031 a0001c0002t0049 a0001c0002t0050 a0001c0003t0001 a0001c0003t0014 a0001c0003t0021 a0001c0003t0035 a0001c0004t0003 a0001c0004t0005 a0001c0004t0009 a0001c0004t0010 a0001c0004t0017 a0001c0004t0024 a0001c0004t0039 a0001c0004t0041 a0001c0004t0052 a0001c0005t0004 a0001c0005t0032 a0001c0006t0002 a0001c0006t0010 a0001c0007t0011 a0001c0007t0019 a0001c0008t0018 a0001c0009t0001 a0001c0010t0009 a0001c0011t0048 a0001c0012t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(127): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0085 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0302 a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0025 a0001c0001t0003g0131 a0001c0001t0008g0038 a0001c0001t0008g0118 a0001c0001t0008g0157 a0001c0001t0010g0153 a0001c0001t0012g0011 a0001c0001t0013g0120 a0001c0001t0014g0105 a0001c0001t0015g0124 a0001c0001t0015g0216 a0001c0001t0015g0303 a0001c0001t0016g0156 a0001c0001t0020g0004 a0001c0001t0023g0162 a0001c0001t0023g0163 a0001c0001t0029g0206 a0001c0001t0047g0106 a0001c0001t0051g0080 a0001c0001t0053g0081 a0001c0001t0054g0076 a0001c0001t0055g0079 a0001c0002t0001g0020 a0001c0002t0002g0015 a0001c0002t0002g0023 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0115 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0140 a0001c0002t0002g0143 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0154 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0179 a0001c0002t0002g0181 a0001c0002t0002g0185 a0001c0002t0002g0217 a0001c0002t0002g0300 a0001c0002t0005g0013 a0001c0002t0005g0150 a0001c0002t0005g0159 a0001c0002t0005g0171 a0001c0002t0005g0177 a0001c0002t0005g0220 a0001c0002t0006g0016 a0001c0002t0006g0027 a0001c0002t0006g0126 a0001c0002t0006g0142 a0001c0002t0006g0158 a0001c0002t0006g0178 a0001c0002t0025g0034 a0001c0002t0025g0035 a0001c0002t0031g0041 a0001c0002t0031g0117 a0001c0002t0049g0219 a0001c0002t0050g0075 a0001c0003t0001g0007 a0001c0003t0001g0012 a0001c0003t0001g0021 a0001c0003t0001g0033 a0001c0003t0001g0107 a0001c0003t0001g0139 a0001c0003t0001g0144 a0001c0003t0001g0155 a0001c0003t0001g0160 a0001c0003t0001g0164 a0001c0003t0001g0166 a0001c0003t0014g0032 a0001c0003t0014g0301 a0001c0003t0021g0161 a0001c0003t0035g0024 a0001c0004t0003g0005 a0001c0004t0003g0125 a0001c0004t0003g0133 a0001c0004t0005g0008 a0001c0004t0009g0078 a0001c0004t0010g0003 a0001c0004t0010g0188 a0001c0004t0017g0122 a0001c0004t0024g0189 a0001c0004t0039g0180 a0001c0004t0041g0037 a0001c0004t0052g0077 a0001c0005t0004g0146 a0001c0005t0032g0176 a0001c0006t0002g0149 a0001c0006t0002g0165 a0001c0006t0002g0168 a0001c0006t0002g0186 a0001c0006t0010g0121 a0001c0007t0011g0169 a0001c0007t0019g0039 a0001c0007t0019g0123 a0001c0007t0019g0187 a0001c0008t0018g0170 a0001c0009t0001g0127 a0001c0010t0009g0113 a0001c0010t0009g0114 a0001c0010t0009g0190 a0001c0011t0048g0119 a0001c0012t0001g0128 a0001c0012t0001g0137	132	307	0.4300	24	c.195 others(43): Show c.195+17992_195+17993insAAAGACAGTTTGTTATAATTTCTG		CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0249 a0001c0001t0006g0249	1	282	0.0036	24	c.53- others(39): Show c.53-5281_53-5280insAAAAAATATATATATATATATATA		CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr8	TogoVar

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