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
SMIM17_chr19_56638159_56662247	56659387	G G	GCCCCCCC others(25): Show GCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0182 a0001c0002t0002g0182	1	418	0.0024	32	c.41 others(43): Show c.4174_*4175insCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCC	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		2141		chr19	TogoVar
SMIM36_chr17_55444856_55516452	55500790	A A	ATATATTA others(25): Show ATATATTATAAAATATAATATATTATTATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	340	0.0029	32	c.17 others(53): Show c.174+10088_*174+10089insATATATAATAATATATTATATTTT ATAATATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	32	c.16 others(43): Show c.1695_*1696insTATATATATATATATATTTTTTTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM45_chr22_41947150_41963939	41958483	G G	GGAGAGAG others(25): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0073 a0001c0001t0021g0073	1	382	0.0026	32	c.61 others(41): Show c.616_*617insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	2/2	617	INFO_REALIGN_3_PRIME	chr22	TogoVar
SMOC1_chr14_69874416_70037366	69875963	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG04228.hp2 HG03927.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0005 a0001c0001t0004 a0001c0004t0005	a0001c0001t0004g0047 a0001c0004t0005g0024 a0001c0001t0004g0047 a0001c0004t0005g0024	2	270	0.0074	32	c.-37 others(43): Show c.-3716_-3715insATATATATATATATATATATATATATATATAT	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding		3452		chr14	TogoVar
SMOC2_chr6_168436184_168672992	168615428	G G	GGTCTCTT others(25): Show GGTCTCTTCATCTTCATACTTACAGCCGGCACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01069.hp1 HG01167.hp1 others(31): Show HG00597.hp1 HG01069.hp1 HG01167.hp1 HG01256.hp2 HG01361.hp1 HG01952.hp2 HG01978.hp1 HG02083.hp1 HG02129.hp2 HG02293.hp1 HG02735.hp1 HG03130.hp2 HG03579.hp1 HG03654.hp2 HG04204.hp2 HG04228.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18971.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19012.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp2 NA19088.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0012 a0001c0001 a0001c0002 a0002c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0002t0007 a0002c0012t0010	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0092 others(31): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0003g0171 a0001c0001t0011g0119 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0028 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0007g0016 a0002c0012t0010g0076	34	180	0.1889	32	c.907 others(49): Show c.907+7190_907+7191insTCTCTTCATCTTCATACTTACAGCCGGC ACAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168618405	A A	AAGGCGGG others(25): Show AAGGCGGGTAGTGGCATTAGGAGAGTGGAGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00741.hp2 others(24): Show HG00280.hp2 HG00423.hp2 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01256.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG02004.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp2 HG02602.hp1 HG02735.hp2 HG02738.hp2 HG03490.hp1 HG03834.hp1 HG06807.hp1 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18950.hp2 NA18960.hp2 NA18983.hp2 NA19079.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0008 a0001c0002t0013 a0004c0009t0003	a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0083 others(24): Show a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0175 a0001c0001t0004g0118 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0017 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0065 a0001c0002t0002g0068 a0001c0002t0008g0047 a0001c0002t0013g0062 a0004c0009t0003g0088	27	180	0.1500	32	c.907 others(51): Show c.907+10249_907+10280dupGGAGAGTGGAGGAGAGGCGGGTAGTG GCATTA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168618505	C C	CGGGTAGT others(25): Show CGGGTAGTGGCATTAGGAGAGTGGAGGAGAGGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03654.hp1 HG01261.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0085 a0001c0002t0002g0067 a0001c0001t0001g0085 a0001c0002t0002g0067	2	180	0.0111	32	c.907 others(51): Show c.907+10280_907+10281insGGAGAGTGGAGGAGAGGTGGGTAGTG GCATTA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPD2_chr6_109435724_109448919	109448097	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02074.hp1 HG02280.hp1 others(4): Show HG01928.hp2 HG02074.hp1 HG02280.hp1 HG02717.hp1 HG02965.hp2 HG02976.hp2 NA19007.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0003 a0004c0005 a0001c0002 a0003c0003 a0004c0005	a0001c0002t0001 a0001c0002t0002 a0003c0003t0002 others(1): Show a0001c0002t0001 a0001c0002t0002 a0003c0003t0002 a0004c0005t0001	a0001c0002t0001g0003 a0001c0002t0002g0002 a0003c0003t0002g0001 others(1): Show a0001c0002t0001g0003 a0001c0002t0002g0002 a0003c0003t0002g0001 a0004c0005t0001g0003	7	438	0.0160	32	c.41 others(43): Show c.4192_*4193insACACACACACACACACACACACACACACACAC	SMPD2	ENSG00000135587.9	transcript	ENST00000258052.8	protein_coding		4179		chr6	TogoVar
SMU1_chr9_33036765_33081674	33039536	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01167.hp2 NA18950.hp1 others(1): Show HG00099.hp1 HG01167.hp2 NA18950.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0066 a0001c0001t0067 a0001c0001t0002 a0001c0001t0066 a0001c0001t0067	a0001c0001t0002g0013 a0001c0001t0002g0087 a0001c0001t0066g0075 others(1): Show a0001c0001t0002g0013 a0001c0001t0002g0087 a0001c0001t0066g0075 a0001c0001t0067g0051	4	418	0.0096	32	c.77 others(43): Show c.7756_*7757insATATATATATATATATATATATATATATATAT	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding		2228		chr9	TogoVar
SMURF1_chr7_99022440_99149108	99063261	A A	AAGATTTA others(25): Show AAGATTTATATATATATATATATATATAAGATT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	264	0.0038	32	c.56- others(47): Show c.56-1425_56-1424insAATCTTATATATATATATATATATATAAAT CT	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF2_chr17_64537282_64667307	64605744	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01517.hp2 NA19030.hp2 HG00558.hp2 HG01517.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0004 a0001c0001t0002 a0001c0001t0005 a0001c0002t0004	a0001c0001t0002g0047 a0001c0001t0005g0028 a0001c0002t0004g0005 a0001c0001t0002g0047 a0001c0001t0005g0028 a0001c0002t0004g0005	3	174	0.0172	32	c.91+ others(45): Show c.91+826_91+857dupATATATATATATATATATATATATATATATAT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	2/18			chr17	TogoVar
SMYD2_chr1_214276159_214342131	214299465	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18979.hp1 HG02486.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0293 a0001c0001t0001g0247 a0001c0001t0001g0293	2	380	0.0053	32	c.174 others(49): Show c.174-5704_174-5703insTATATATATATATATATATATATATATA TATA	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245833073	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAACACAAC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	150	0.0067	32	c.107 others(53): Show c.1076+25422_1076+25423insGTTGTGTTTTTTTTTTTTTTTTTT TTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245921547	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	150	0.0067	32	c.703 others(49): Show c.703-5908_703-5907insTATATATATATATATATATATATATATA TATA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	7/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246024440	G G	GAGATACA others(25): Show GAGATACAGCAAGTGGACAGCATCTAGGAAAAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00621.hp1 others(21): Show HG00408.hp1 HG00408.hp2 HG00621.hp1 HG00733.hp1 HG01975.hp2 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02165.hp1 HG02280.hp2 HG02895.hp2 HG02970.hp1 HG03491.hp1 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 NA18747.hp1 NA18962.hp1 NA18963.hp2 NA19000.hp1 NA19057.hp1 NA19088.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0004c0013 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0003 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0004c0013t0002 a0005c0015t0002	a0001c0001t0001g0005 a0001c0001t0001g0050 a0001c0001t0001g0059 others(21): Show a0001c0001t0001g0005 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0060 a0001c0001t0002g0081 a0001c0002t0001g0016 a0001c0002t0001g0028 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0006t0003g0001 a0002c0003t0001g0148 a0002c0003t0002g0116 a0002c0004t0001g0121 a0002c0005t0001g0138 a0002c0005t0001g0146 a0004c0013t0002g0072 a0005c0015t0002g0094	24	150	0.1600	32	c.532 others(51): Show c.532-94504_532-94503insGTTTTCCTAGATGCTGTCCACTTGCT GTATCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246024504	C C	CAGATACA others(25): Show CAGATACAGCAAGTGGACAGCATCTAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp2 others(40): Show HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00741.hp1 HG01081.hp2 HG01109.hp2 HG01496.hp2 HG01934.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02965.hp2 HG03017.hp1 HG03130.hp2 HG03471.hp1 NA18747.hp2 NA18963.hp1 NA18965.hp2 NA18971.hp1 NA18984.hp1 NA19057.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(7): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0009t0001 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0021 others(40): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0002t0001g0012 a0001c0002t0001g0053 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0002g0010 a0001c0002t0002g0070 a0001c0002t0002g0083 a0001c0006t0001g0022 a0001c0006t0001g0035 a0001c0006t0001g0076 a0001c0009t0001g0002 a0001c0011t0002g0049 a0001c0012t0002g0074 a0001c0014t0002g0091 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0105 a0002c0003t0001g0112 a0002c0003t0001g0133 a0002c0003t0002g0104 a0002c0003t0002g0110 a0002c0003t0002g0131 a0002c0003t0002g0143 a0002c0004t0001g0098 a0002c0004t0001g0140 a0002c0004t0001g0149 a0002c0005t0001g0136 a0002c0005t0002g0106 a0002c0005t0002g0118	43	150	0.2867	32	c.532 others(51): Show c.532-94599_532-94568dupCCCTTCCTAGATGCTGTCCACTTGCT GTATCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246024599	G G	CAGATACA others(25): Show CAGATACAGCAAGTGGACAGCATCTAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp2 NA19030.hp1 HG02922.hp2 HG02970.hp2 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0002 a0002c0004t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0002	a0002c0003t0001g0096 a0002c0003t0002g0095 a0002c0004t0002g0139 a0002c0003t0001g0096 a0002c0003t0002g0095 a0002c0004t0002g0139	3	150	0.0200	32	c.532 others(51): Show c.532-94662_532-94661insTCTTCCTAGATGCTGTCCACTTGCTG TATCTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246024695	G G	GAGATACA others(25): Show GAGATACAGCAAGTGGACAGCATCTAGGAAGAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02109.hp1 HG02132.hp1 others(4): Show HG00544.hp1 HG02109.hp1 HG02132.hp1 HG03209.hp1 NA18965.hp1 NA18984.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0002g0023 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0002g0023 a0001c0001t0002g0071 a0001c0002t0002g0084 a0002c0003t0001g0103 a0002c0003t0001g0144	7	150	0.0467	32	c.532 others(51): Show c.532-94759_532-94758insGTCTTCCTAGATGCTGTCCACTTGCT GTATCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246024822	G G	GAGATACA others(25): Show GAGATACAGCAAGTGGACAGCATCTAGGAAGAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp1 HG01433.hp1 others(19): Show HG00544.hp1 HG00738.hp1 HG01433.hp1 HG01433.hp2 HG01952.hp1 HG01981.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03579.hp2 HG04115.hp2 NA19030.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0042 others(19): Show a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0093 a0001c0001t0002g0017 a0001c0002t0001g0015 a0001c0002t0001g0056 a0001c0002t0002g0084 a0001c0006t0001g0025 a0002c0003t0001g0096 a0002c0003t0001g0111 a0002c0003t0001g0141 a0002c0003t0002g0095 a0002c0003t0002g0130 a0002c0004t0001g0107 a0002c0004t0001g0117 a0002c0004t0001g0127 a0002c0004t0001g0129 a0002c0004t0002g0139 a0002c0005t0001g0142 a0002c0005t0002g0115	22	150	0.1467	32	c.532 others(51): Show c.532-94886_532-94885insGTCTTCCTAGATGCTGTCCACTTGCT GTATCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246024852	G G	GACAGATA others(25): Show GACAGATACAGCAAGTGGACAGCATCTAGGAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00733.hp1 HG01975.hp2 others(19): Show HG00408.hp1 HG00733.hp1 HG01975.hp2 HG02071.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02280.hp2 HG02895.hp2 HG02970.hp1 HG03209.hp1 HG03579.hp1 HG03831.hp1 HG04115.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18984.hp2 NA19000.hp1 NA19057.hp1 NA19088.hp1 NA19090.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0003 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0004c0013t0002	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0050 others(19): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0002g0023 a0001c0001t0002g0030 a0001c0001t0002g0060 a0001c0001t0002g0071 a0001c0002t0001g0016 a0001c0002t0001g0028 a0001c0002t0001g0064 a0001c0006t0003g0001 a0002c0003t0001g0103 a0002c0003t0001g0144 a0002c0003t0001g0148 a0002c0003t0002g0116 a0002c0004t0001g0121 a0002c0005t0001g0138 a0002c0005t0001g0146 a0004c0013t0002g0072	22	150	0.1467	32	c.532 others(51): Show c.532-94916_532-94915insTTTCCTAGATGCTGTCCACTTGCTGT ATCTGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246348077	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02970.hp1 HG00140.hp1 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0029 a0002c0003t0002g0116 a0001c0002t0001g0029 a0002c0003t0002g0116	2	150	0.0133	32	c.228 others(49): Show c.228+6953_228+6954insGTATATATATATATATATATATATATAT ATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	2/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246378730	T T	TATAATTA others(25): Show TATAATTATATATAATATAATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02895.hp2 HG03209.hp1 HG02300.hp2 HG02895.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0005 a0001c0001 a0002c0003 a0002c0005	a0001c0001t0002 a0002c0003t0001 a0002c0005t0001 a0001c0001t0002 a0002c0003t0001 a0002c0005t0001	a0001c0001t0002g0014 a0002c0003t0001g0144 a0002c0005t0001g0146 a0001c0001t0002g0014 a0002c0003t0001g0144 a0002c0005t0001g0146	3	150	0.0200	32	c.165 others(51): Show c.165-23637_165-23636insTATATATAATATATTATATTATATAT AATTAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246378804	T T	TATTATAT others(25): Show TATTATATATAATATATTTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02809.hp1 HG02886.hp1 others(8): Show HG01175.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03579.hp2 NA19000.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0002	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0002g0045 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0002g0045 a0001c0001t0002g0068 a0002c0003t0001g0096 a0002c0003t0001g0137 a0002c0003t0002g0095 a0002c0004t0001g0129 a0002c0004t0001g0140 a0002c0004t0002g0139 a0002c0005t0002g0106	11	150	0.0733	32	c.165 others(51): Show c.165-23711_165-23710insTATATATAATATATAAATATATTATA TATAAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481593	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02615.hp1 HG01433.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0001 a0002c0003t0002 a0002c0004t0001	a0002c0003t0002g0130 a0002c0004t0001g0117 a0002c0003t0002g0130 a0002c0004t0001g0117	2	150	0.0133	32	c.164 others(51): Show c.164+25460_164+25461insATATATATATATATATATATATATAT ATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481607	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	150	0.0067	32	c.164 others(51): Show c.164+25446_164+25447insGTGTATATATATATATATATATATAT ATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481607	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG01081.hp1 others(11): Show HG00408.hp1 HG00597.hp2 HG01081.hp1 HG01175.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02165.hp1 HG03491.hp2 NA18747.hp2 NA18963.hp1 NA18965.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0067 others(11): Show a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0057 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0085 a0001c0002t0001g0016 a0001c0002t0001g0033 a0001c0002t0001g0053 a0001c0002t0002g0037	14	150	0.0933	32	c.164 others(51): Show c.164+25446_164+25447insGTATATATATATATATATATATATAT ATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481621	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0108 a0002c0003t0001g0108	1	150	0.0067	32	c.164 others(51): Show c.164+25432_164+25433insGTGTATATATATATATATATATATAT ATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD4_chr17_1774485_1834902	1794105	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0006 a0006c0005t0006	a0006c0005t0006g0356 a0006c0005t0006g0356	1	390	0.0026	32	c.153 others(51): Show c.1537+5751_1537+5752insAAAATATATATATATATATATATATA TATATA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SNAI1_chr20_49977980_49993886	49978472	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	440	0.0023	32	c.-45 others(43): Show c.-4588_-4587insATATATATATATATATATATATATATATATAT	SNAI1	ENSG00000124216.4	transcript	ENST00000244050.3	protein_coding		4507		chr20	TogoVar
SNAP23_chr15_42490634_42538058	42525451	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0227 a0001c0002t0003g0227	1	308	0.0033	32	c.267 others(49): Show c.267-2781_267-2780insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SNAP23	ENSG00000092531.10	transcript	ENST00000249647.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNAP23_chr15_42490634_42538058	42537248	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0241 a0001c0002t0009g0241	1	308	0.0033	32	c.57 others(43): Show c.5770_*5771insACACACACACACACACACACACACACACACAT	SNAP23	ENSG00000092531.10	transcript	ENST00000249647.8	protein_coding		4191		chr15	TogoVar
SNAP91_chr6_83547885_83714101	83628222	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01952.hp2 HG02056.hp2 others(7): Show HG01928.hp1 HG01952.hp2 HG02056.hp2 HG02132.hp2 HG03927.hp2 NA18944.hp2 NA18950.hp1 NA18962.hp2 NA19000.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0268 a0001c0001t0002g0243 a0001c0001t0002g0266 others(7): Show a0001c0001t0001g0268 a0001c0001t0002g0243 a0001c0001t0002g0266 a0001c0001t0002g0272 a0001c0002t0001g0204 a0001c0002t0001g0227 a0001c0002t0001g0301 a0001c0002t0001g0310 a0001c0002t0001g0312 a0001c0002t0001g0341	10	366	0.0273	32	c.766 others(49): Show c.766-4881_766-4880insATATATATATATATATATATATATATAT ATAT	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	8/29			chr6	TogoVar
SNCA_chr4_89719099_89842161	89802592	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(18): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG02027.hp1 HG02074.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02630.hp2 HG02698.hp2 HG02809.hp1 HG02886.hp2 NA18950.hp2 NA18967.hp2 NA18999.hp1 NA19009.hp1 NA19010.hp2 NA19056.hp1 NA19058.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007	a0001c0001t0002g0005 a0001c0001t0002g0024 a0001c0001t0002g0028 others(16): Show a0001c0001t0002g0005 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0040 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0005g0003 a0001c0001t0005g0021 a0001c0001t0005g0058 a0001c0001t0006g0031 a0001c0001t0006g0036 a0001c0001t0007g0142	21	338	0.0621	32	c.306 others(51): Show c.306+19653_306+19654insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	SNCA	ENSG00000145335.17	transcript	ENST00000394991.8	protein_coding	4/5			chr4	TogoVar
SNED1_chr2_240993618_241100568	241036010	G G	GTGGGGGG others(25): Show GTGGGGGGTGGAGGTGCGTCACGGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	344	0.0029	32	c.806 others(47): Show c.806-751_806-750insGGTTGGGGGGTGGAGGTGCGTCACGGGGTG GG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNED1_chr2_240993618_241100568	241036039	G G	GTGGGGGG others(25): Show GTGGGGGGTGGAGGTGCGTCACGGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0073 a0002c0073	a0002c0073t0063 a0002c0073t0063	a0002c0073t0063g0007 a0002c0073t0063g0007	1	344	0.0029	32	c.806 others(47): Show c.806-730_806-729insGGGGTGGGGGTTGGGGGGTGGAGGTGCGTC AC	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNIP1_chr1_37529449_37559293	37535230	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG01891.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0068 a0001c0001t0067 a0001c0001t0068	a0001c0001t0067g0164 a0001c0001t0068g0163 a0001c0001t0067g0164 a0001c0001t0068g0163	2	394	0.0051	32	c.25 others(43): Show c.2517_*2518insTATATATATATATATATATATATATATATATA	SNIP1	ENSG00000163877.11	transcript	ENST00000296215.8	protein_coding	4/4	2517		chr1	TogoVar
SNIP1_chr1_37529449_37559293	37535239	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01071.hp1 others(11): Show HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01261.hp1 HG01358.hp1 HG01516.hp1 HG02258.hp2 HG02717.hp2 HG03017.hp2 HG03139.hp1 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0028 a0001c0001t0039 a0001c0001t0006 a0001c0001t0028 a0001c0001t0039	a0001c0001t0006g0008 a0001c0001t0006g0023 a0001c0001t0006g0146 others(4): Show a0001c0001t0006g0008 a0001c0001t0006g0023 a0001c0001t0006g0146 a0001c0001t0028g0024 a0001c0001t0028g0136 a0001c0001t0039g0102 a0001c0001t0039g0104	14	394	0.0355	32	c.25 others(43): Show c.2508_*2509insTTATATATATATATATATATATATATATATAT	SNIP1	ENSG00000163877.11	transcript	ENST00000296215.8	protein_coding	4/4	2508		chr1	TogoVar
SNRPG_chr2_70276362_70298740	70290823	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	424	0.0024	32	c.33- others(47): Show c.33-1483_33-1452dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SNRPG	ENSG00000143977.14	transcript	ENST00000272348.7	protein_coding	1/3			chr2	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTCTTTT others(25): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG03491.hp1 HG00741.hp1 HG01071.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0003 a0001c0002t0010 a0001c0001t0013 a0001c0002t0003 a0001c0002t0010	a0001c0001t0013g0068 a0001c0002t0003g0011 a0001c0002t0010g0012 a0001c0001t0013g0068 a0001c0002t0003g0011 a0001c0002t0010g0012	3	106	0.0283	32	c.-10 others(53): Show c.-103+26374_-103+26375insCTTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50701618	C C	CTTCTTCT others(25): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG04184.hp1 NA20129.hp1 HG03453.hp2 HG04184.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0032 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0032	3	106	0.0283	32	c.103 others(51): Show c.1039-2982_1039-2981insTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18			chr8	TogoVar
SNTG1_chr8_49906407_50801692	50722116	A A	ATGTATAT others(25): Show ATGTATATATATACATATATATGTATACATATG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01192.hp1 HG01243.hp2 others(14): Show HG00621.hp2 HG01192.hp1 HG01243.hp2 HG01884.hp1 HG02647.hp2 HG02886.hp1 HG03453.hp1 HG03490.hp1 HG03540.hp1 HG03669.hp1 HG03942.hp2 HG04115.hp2 HG06807.hp2 NA18968.hp2 NA19060.hp2 NA19085.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(6): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 a0001c0001t0023 a0001c0001t0031 a0001c0001t0041 a0001c0005t0019 a0003c0004t0005	a0001c0001t0004g0072 a0001c0001t0004g0102 a0001c0001t0005g0018 others(14): Show a0001c0001t0004g0072 a0001c0001t0004g0102 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0035 a0001c0001t0008g0061 a0001c0001t0008g0071 a0001c0001t0008g0091 a0001c0001t0016g0003 a0001c0001t0023g0002 a0001c0001t0031g0055 a0001c0001t0041g0025 a0001c0005t0019g0044 a0003c0004t0005g0040	17	106	0.1604	32	c.128 others(53): Show c.1284+13151_1284+13182dupCATATATATGTATACATATGTGTA TATATATA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1031528	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0184 a0003c0007t0001g0184	1	190	0.0053	32	c.73- others(49): Show c.73-51989_73-51988insATATATATATATATATATATATATATAT TTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1031528	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	190	0.0053	32	c.73- others(49): Show c.73-51989_73-51988insATATATATATATATATATATATATATTT TTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1031528	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0019 a0019	a0019c0025 a0019c0025	a0019c0025t0001 a0019c0025t0001	a0019c0025t0001g0034 a0019c0025t0001g0034	1	190	0.0053	32	c.73- others(49): Show c.73-51989_73-51988insATATATATATATATATATATATATTTTT TTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1031528	A A	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0048 a0018c0023t0001g0048	1	190	0.0053	32	c.73- others(49): Show c.73-51989_73-51988insATATATATATATATATATTTTTTTTTTT TTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056288	T T	TGCTGTGG others(25): Show TGCTGTGGGGAGGGAGGGAGAGGGCGGCGCCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01192.hp1 HG01257.hp1 others(18): Show HG00438.hp1 HG01192.hp1 HG01257.hp1 HG02071.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG03239.hp2 HG03831.hp2 HG03927.hp1 NA18942.hp1 NA18943.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18968.hp1 NA18970.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0010 a0012 a0016	a0001c0001 a0002c0003 a0004c0004 others(3): Show a0001c0001 a0002c0003 a0004c0004 a0010c0012 a0012c0019 a0016c0034	a0001c0001t0001 a0002c0003t0001 a0004c0004t0001 others(3): Show a0001c0001t0001 a0002c0003t0001 a0004c0004t0001 a0010c0012t0001 a0012c0019t0001 a0016c0034t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(18): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0179 a0001c0001t0001g0187 a0002c0003t0001g0064 a0002c0003t0001g0093 a0002c0003t0001g0113 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0165 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0004c0004t0001g0134 a0004c0004t0001g0169 a0004c0004t0001g0177 a0010c0012t0001g0166 a0012c0019t0001g0122 a0012c0019t0001g0159 a0016c0034t0001g0146	21	190	0.1105	32	c.73- others(49): Show c.73-27211_73-27210insAGGGCGGCGCCCCGCTGTGGGGAGGGAG GGAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056906	C C	CGCGCTGT others(25): Show CGCGCTGTGCTGTGGGGAGGGAGGGAGAGCGCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG03486.hp1 others(2): Show HG02486.hp1 HG02559.hp1 HG03486.hp1 HG03710.hp1 NA18970.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0010	a0001c0002 a0003c0007 a0006c0009 others(1): Show a0001c0002 a0003c0007 a0006c0009 a0010c0012	a0001c0002t0001 a0003c0007t0001 a0006c0009t0001 others(1): Show a0001c0002t0001 a0003c0007t0001 a0006c0009t0001 a0010c0012t0001	a0001c0002t0001g0069 a0003c0007t0001g0008 a0003c0007t0001g0080 others(2): Show a0001c0002t0001g0069 a0003c0007t0001g0008 a0003c0007t0001g0080 a0006c0009t0001g0121 a0010c0012t0001g0066	5	190	0.0263	32	c.73- others(49): Show c.73-26586_73-26585insAGCGCAGCGCTGTGCTGTGGGGAGGGAG GGAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056913	T T	TGCTGTGG others(25): Show TGCTGTGGGGCGGGAGGGAGAGGGCGGCGCCAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0119 a0002c0033t0001g0119	1	190	0.0053	32	c.73- others(49): Show c.73-26596_73-26595insCGGGAGGGAGAGGGCGGCGCCACGCTGT GGGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056959	A A	AGGGAGGG others(25): Show AGGGAGGGAGGGAGAGAGCGGGGCCACGTTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01257.hp1 HG02071.hp1 others(19): Show HG00438.hp1 HG01257.hp1 HG02071.hp1 HG02132.hp2 HG02145.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG03239.hp2 HG03831.hp2 NA18942.hp1 NA18943.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18968.hp1 NA18970.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0012 a0016	a0001c0001 a0002c0003 a0004c0004 others(3): Show a0001c0001 a0002c0003 a0004c0004 a0006c0009 a0012c0019 a0016c0034	a0001c0001t0001 a0002c0003t0001 a0004c0004t0001 others(3): Show a0001c0001t0001 a0002c0003t0001 a0004c0004t0001 a0006c0009t0001 a0012c0019t0001 a0016c0034t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(19): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0179 a0001c0001t0001g0187 a0002c0003t0001g0093 a0002c0003t0001g0113 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0165 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0004c0004t0001g0134 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0169 a0004c0004t0001g0177 a0006c0009t0001g0163 a0012c0019t0001g0122 a0012c0019t0001g0159 a0016c0034t0001g0146	22	190	0.1158	32	c.73- others(49): Show c.73-26544_73-26543insAGCGGGGCCACGTTGTGGGGAGGGAGGG AGAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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