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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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
SLCO4A1_chr20_62637503_62677293	62666118	G G	GCCCCCCC others(24): Show GCCCCCCCCTTCCCCTTCCCCTTCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00609.hp1 others(34): Show HG00280.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01169.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02129.hp1 HG02300.hp2 HG02735.hp2 NA18612.hp1 NA18947.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18968.hp2 NA18978.hp2 NA18986.hp2 NA18994.hp1 NA19010.hp2 NA19011.hp2 NA19081.hp2 NA19091.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0010c0023	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0002c0002t0002 a0002c0002t0003 a0002c0002t0019 a0004c0005t0002 a0010c0023t0031	a0001c0001t0002g0008 a0001c0001t0002g0024 a0001c0001t0002g0095 others(29): Show a0001c0001t0002g0008 a0001c0001t0002g0024 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0138 a0001c0001t0002g0152 a0001c0001t0002g0176 a0001c0001t0002g0181 a0001c0001t0002g0189 a0001c0001t0002g0209 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0003g0025 a0001c0001t0003g0055 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0148 a0001c0001t0003g0157 a0001c0001t0003g0177 a0001c0001t0003g0191 a0001c0001t0003g0203 a0001c0001t0003g0211 a0001c0001t0011g0023 a0002c0002t0002g0011 a0002c0002t0002g0304 a0002c0002t0003g0023 a0002c0002t0003g0204 a0002c0002t0019g0121 a0004c0005t0002g0008 a0004c0005t0002g0178 a0010c0023t0031g0236	37	432	0.0857	31	c.127 others(48): Show c.1277-261_1277-260insCCCCCCCTTCCCCTTCCCCTTCCCCTTC CCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLFN12L_chr17_35459254_35542678	35534557	A A	AGGCAGAG others(24): Show AGGCAGAGTTGAGAGAGATTTAGAATTAAGCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02723.hp1 HG01109.hp2 HG02723.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0016 a0001c0001 a0010c0016	a0001c0001t0087 a0010c0016t0099 a0001c0001t0087 a0010c0016t0099	a0001c0001t0087g0084 a0010c0016t0099g0083 a0001c0001t0087g0084 a0010c0016t0099g0083	2	360	0.0056	31	c.-60 others(50): Show c.-606+2985_-606+3015dupGGCTTAATTCTAAATCTCTCTCAACT CTGCC	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35534582	T T	TTAAGCCG others(24): Show TTAAGCCGGCAGAGTTGAGAGAGATTTAGAAG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0344 a0002c0003t0001g0344	1	360	0.0028	31	c.-60 others(50): Show c.-606+2960_-606+2990dupCTTCTAAATCTCTCTCAACTCTGCCG GCTTA	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN13_chr17_35430096_35453766	35442730	A A	ACCACCAT others(24): Show ACCACCATACACACCAGCAACATCAGGAAGAG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0081 a0005c0005t0081	a0005c0005t0081g0093 a0005c0005t0081g0093	1	456	0.0022	31	c.119 others(48): Show c.1199-445_1199-444insCTCTTCCTGATGTTGCTGGTGTGTATGG TGG	SLFN13	ENSG00000154760.14	transcript	ENST00000285013.11	protein_coding	4/5			chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561745	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG03491.hp2 HG01099.hp1 HG03491.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0008 a0007c0008t0008	a0007c0008t0008g0008 a0007c0008t0008g0101 a0007c0008t0008g0008 a0007c0008t0008g0101	2	428	0.0047	31	c.-11 others(42): Show c.-1103_-1102insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		927		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561749	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	428	0.0023	31	c.-11 others(42): Show c.-1107_-1106insCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		931		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561749	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0128 a0002c0002t0033g0128	1	428	0.0023	31	c.-11 others(42): Show c.-1107_-1106insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		931		chr17	TogoVar
SLIT2_chr4_20246905_20625561	20518588	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19082.hp2 HG01175.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0045 a0001c0001t0003 a0001c0002t0045	a0001c0001t0003g0043 a0001c0002t0045g0006 a0001c0001t0003g0043 a0001c0002t0045g0006	2	230	0.0087	31	c.105 others(48): Show c.1059-794_1059-793insATATATATATATATATATATATATATAT ATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36			chr4	TogoVar
SLIT3_chr5_168656740_169306139	168899084	T T	TCTTTTCT others(24): Show TCTTTTCTTCTCCTACCCTTTTGCTCTTTCAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01106.hp1 others(24): Show HG00408.hp1 HG00639.hp2 HG01106.hp1 HG01106.hp2 HG01255.hp1 HG01433.hp1 HG01433.hp2 HG01934.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02135.hp2 HG02735.hp2 HG03017.hp1 HG03834.hp2 NA18747.hp1 NA18957.hp2 NA18970.hp1 NA18974.hp2 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp2 NA19066.hp2 NA20805.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0007 a0010 a0011 a0013 a0014	a0001c0001 a0001c0006 a0001c0009 others(17): Show a0001c0001 a0001c0006 a0001c0009 a0001c0014 a0001c0016 a0001c0054 a0002c0002 a0002c0005 a0002c0008 a0002c0012 a0002c0043 a0002c0049 a0002c0062 a0003c0033 a0003c0055 a0007c0035 a0010c0045 a0011c0028 a0013c0063 a0014c0064	a0001c0001t0001 a0001c0006t0035 a0001c0009t0003 others(20): Show a0001c0001t0001 a0001c0006t0035 a0001c0009t0003 a0001c0014t0009 a0001c0016t0008 a0001c0016t0038 a0001c0054t0002 a0002c0002t0020 a0002c0002t0022 a0002c0005t0003 a0002c0008t0002 a0002c0012t0004 a0002c0012t0031 a0002c0043t0028 a0002c0049t0003 a0002c0062t0030 a0003c0033t0007 a0003c0055t0010 a0007c0035t0004 a0010c0045t0002 a0011c0028t0006 a0013c0063t0002 a0014c0064t0015	a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0041 others(24): Show a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0006t0035g0120 a0001c0009t0003g0117 a0001c0014t0009g0112 a0001c0014t0009g0121 a0001c0016t0008g0080 a0001c0016t0038g0132 a0001c0054t0002g0044 a0002c0002t0020g0119 a0002c0002t0022g0038 a0002c0005t0003g0118 a0002c0008t0002g0017 a0002c0008t0002g0020 a0002c0012t0004g0031 a0002c0012t0031g0077 a0002c0043t0028g0052 a0002c0049t0003g0127 a0002c0062t0030g0032 a0003c0033t0007g0108 a0003c0055t0010g0115 a0007c0035t0004g0049 a0010c0045t0002g0079 a0011c0028t0006g0014 a0013c0063t0002g0036 a0014c0064t0015g0024	27	132	0.2046	31	c.414 others(50): Show c.414-15779_414-15749dupCTGAAAGAGCAAAAGGGTAGGAGAAG AAAAG	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168967437	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18747.hp2 HG03225.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0003 a0001c0010t0033 a0001c0001t0003 a0001c0010t0033	a0001c0001t0003g0110 a0001c0010t0033g0103 a0001c0001t0003g0110 a0001c0010t0033g0103	2	132	0.0152	31	c.414 others(50): Show c.414-84102_414-84101insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169079826	A A	AGGAGGAG others(24): Show AGGAGGAGGAGGGAGGGAGGAGGAGGAGGGAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0118 a0002c0005t0003g0118	1	132	0.0076	31	c.413 others(52): Show c.413+113622_413+113652dupCTCCCTCCTCCTCCTCCCTCCCTC CTCCTCC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(24): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19074.hp2 HG00621.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0046 a0001c0001t0002g0023 a0001c0001t0002g0046	2	310	0.0065	31	c.150 others(50): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp2 HG03453.hp2 others(1): Show HG02559.hp2 HG02647.hp2 HG03453.hp2 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0199 a0001c0002t0001g0233 a0001c0002t0001g0259 others(1): Show a0001c0002t0001g0199 a0001c0002t0001g0233 a0001c0002t0001g0259 a0001c0002t0001g0266	4	310	0.0129	31	c.150 others(50): Show c.1502-1552_1502-1551insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258285	T T	TATAGATA others(24): Show TATAGATAGATAGATAGATAGATAGATAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	398	0.0025	31	c.-37 others(42): Show c.-3743_-3742insCATCTATCTATCTATCTATCTATCTATCTAT	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3722		chr20	TogoVar
SLPI_chr20_45247239_45259564	45258288	A A	AGATAGAT others(24): Show AGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02970.hp2 HG02486.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0050 a0001c0001t0001g0016 a0001c0001t0001g0050	2	398	0.0050	31	c.-37 others(42): Show c.-3746_-3745insATCTATCTATCTATCTATCTATCTATCTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3725		chr20	TogoVar
SLPI_chr20_45247239_45259564	45258292	A A	AGATAGAT others(24): Show AGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG01884.hp1 others(7): Show HG00323.hp1 HG00597.hp1 HG01884.hp1 HG02523.hp2 HG02559.hp2 HG02723.hp2 HG03688.hp2 HG03710.hp2 NA19001.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0003 a0001c0001t0001g0009	10	398	0.0251	31	c.-37 others(42): Show c.-3750_-3749insATCTATCTATCTATCTATCTATCTATCTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3729		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02280.hp1 HG03041.hp2 others(2): Show HG00558.hp2 HG02280.hp1 HG03041.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0238 a0001c0001t0002g0281 a0001c0001t0002g0285 others(2): Show a0001c0001t0001g0238 a0001c0001t0002g0281 a0001c0001t0002g0285 a0001c0002t0001g0065 a0001c0002t0001g0074	5	386	0.0130	31	c.299 others(50): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47830576	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0251 a0001c0002t0251	a0001c0002t0251g0305 a0001c0002t0251g0305	1	310	0.0032	31	c.11 others(44): Show c.11250_*11251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11	11250		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0193 a0001c0001t0102g0193	1	310	0.0032	31	c.237 others(50): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67183031	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	310	0.0032	31	c.871 others(48): Show c.871+1579_871+1580insATATATATATATATATTTTTTTTTTTTT TTT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67183032	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0060 a0001c0002t0008g0060	1	310	0.0032	31	c.871 others(48): Show c.871+1579_871+1580insATATATATATATATATATATATATATAT ATA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8			chr15	TogoVar
SMAD4_chr18_51025213_51090042	51062851	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0280 a0001c0001t0011g0280	1	302	0.0033	31	c.956 others(48): Show c.956-2548_956-2547insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD7_chr18_48914853_48955965	48917112	G G	GGCGACGA others(24): Show GGCGACGAGGAGGGAGTTGAAGAGGTGTACGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	398	0.0025	31	c.42 others(42): Show c.4259_*4260insTCGTACACCTCTTCAACTCCCTCCTCGTCGC	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding		2740		chr18	TogoVar
SMARCA2_chr9_2010347_2198620	2188485	G G	GTTATTCC others(24): Show GTTATTCCTTTGTTCTAGCATTTGAATACATC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0086 a0001c0008t0001g0086	1	316	0.0032	31	c.459 others(50): Show c.4594+2259_4594+2289dupTATTCCTTTGTTCTAGCATTTGAATA CATCT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	32/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCC1_chr3_47580269_47786893	47671173	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	219	0.0046	31	c.184 others(48): Show c.1840-457_1840-456insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCE1_chr17_40619962_40652818	40626865	A A	ACTCCAAC others(24): Show ACTCCAACTCAAAAAAAAAAAAAAAAAAAAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00597.hp2 others(86): Show HG00408.hp1 HG00423.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG01069.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG03453.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18940.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18992.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19089.hp2 NA20129.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 others(6): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0004c0002t0003	a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0046 others(25): Show a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0046 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0008g0014 a0001c0001t0008g0088 a0001c0001t0008g0100 a0001c0001t0008g0113 a0001c0001t0010g0024 a0001c0001t0010g0120 a0001c0001t0011g0022 a0001c0001t0013g0023 a0001c0001t0020g0036 a0001c0001t0024g0108 a0001c0001t0025g0118 a0004c0002t0003g0128	89	402	0.2214	31	c.19 others(42): Show c.1919_*1920insGCTTTTTTTTTTTTTTTTTTTTGAGTTGGAG	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	11/11	1919		chr17	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	213	0.0047	31	c.242 others(48): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp2 HG03486.hp1 others(2): Show HG02280.hp2 HG02976.hp2 HG03486.hp1 HG06807.hp1 NA19240.hp2	a0004 a0007 a0017 a0004 a0007 a0017	a0004c0004 a0007c0007 a0017c0031 a0004c0004 a0007c0007 a0017c0031	a0004c0004t0008 a0007c0007t0001 a0017c0031t0001 a0004c0004t0008 a0007c0007t0001 a0017c0031t0001	a0004c0004t0008g0055 a0004c0004t0008g0056 a0007c0007t0001g0023 others(2): Show a0004c0004t0008g0055 a0004c0004t0008g0056 a0007c0007t0001g0023 a0007c0007t0001g0024 a0017c0031t0001g0097	5	278	0.0180	31	c.335 others(52): Show c.3357+42391_3357+42392insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMIM12_chr1_34845362_34864749	34864100	C C	CATCTCTT others(24): Show CATCTCTTGCTTTTCCAAAGTTGTCTACCAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	382	0.0026	31	c.-44 others(42): Show c.-4430_-4429insTTTGGTAGACAACTTTGGAAAAGCAAGAGAT	SMIM12	ENSG00000163866.9	transcript	ENST00000521580.3	protein_coding		4352		chr1	TogoVar
SMIM14_chr4_39541336_39643865	39584481	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp2 NA20805.hp2 HG03492.hp1 HG03492.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0271 a0001c0001t0004g0280 a0001c0001t0004g0011 a0001c0001t0004g0271 a0001c0001t0004g0280	3	344	0.0087	31	c.76- others(48): Show c.76-12019_76-12018insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM36_chr17_55444856_55516452	55501307	G G	GTTATATA others(24): Show GTTATATATTATATTTTATAATATATAATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0134 a0001c0001t0005g0134	1	340	0.0029	31	c.17 others(50): Show c.174+9541_*174+9571dupTATATTATATATTATAAAATATAATA TATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501330	T T	TATATTAT others(24): Show TATATTATGTTATATATTATATTCTATAATAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02559.hp1 others(5): Show HG02145.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02895.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0010 a0001c0003t0004 a0001c0001t0004 a0001c0001t0010 a0001c0003t0004	a0001c0001t0004g0235 a0001c0001t0004g0239 a0001c0001t0004g0243 others(5): Show a0001c0001t0004g0235 a0001c0001t0004g0239 a0001c0001t0004g0243 a0001c0001t0010g0240 a0001c0001t0010g0241 a0001c0001t0010g0242 a0001c0003t0004g0006 a0001c0003t0004g0007	8	340	0.0235	31	c.17 others(50): Show c.174+9548_*174+9549insCTATTATAGAATATAATATATAACAT AATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM9_chrX_154818348_154839662	154839384	A A	ATCTCGTC others(24): Show ATCTCGTCTCAAAAAAAAAAAAAAAATTGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	300	0.0033	31	c.-50 others(42): Show c.-5032_-5031insCCTCAATTTTTTTTTTTTTTTTGAGACGAGA	SMIM9	ENSG00000203870.6	transcript	ENST00000369529.2	protein_coding		4723		chrX	TogoVar
SMNDC1_chr10_110285730_110309920	110301296	A A	AGTGTAGT others(24): Show AGTGTAGTCTCAATGGAGACAACAATTACTGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01256.hp2 others(6): Show HG01167.hp1 HG01169.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG03239.hp2 HG03492.hp2 HG03834.hp1 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0006 a0001c0002t0005g0034 a0001c0002t0005g0006 a0001c0002t0005g0034	9	392	0.0230	31	c.120 others(48): Show c.120+2171_120+2172insCCAGTAATTGTTGTCTCCATTGAGACTA CAC	SMNDC1	ENSG00000119953.14	transcript	ENST00000369603.10	protein_coding	2/5			chr10	TogoVar
SMOC1_chr14_69874416_70037366	69959664	A A	ATTGCATA others(24): Show ATTGCATATAGGGATCTATATGCATGGATCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG03098.hp2 others(3): Show HG01109.hp2 HG02559.hp2 HG03098.hp2 NA18981.hp2 NA18988.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 others(1): Show a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0002t0002	a0001c0001t0015g0054 a0001c0001t0015g0153 a0001c0001t0016g0078 others(3): Show a0001c0001t0015g0054 a0001c0001t0015g0153 a0001c0001t0016g0078 a0001c0001t0017g0176 a0001c0002t0002g0245 a0001c0002t0002g0248	6	270	0.0222	31	c.378 others(48): Show c.378+6162_378+6192dupCCTTGCATATAGGGATCTATATGCATGG ATC	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168515617	G G	GCTCCTTC others(24): Show GCTCCTTCCAAGGCCTCGCCCTGAGTGGCCGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(151): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0003c0006 a0004c0009 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0016 a0001c0003t0001 a0001c0004t0005 a0001c0005t0001 a0001c0011t0006 a0003c0006t0012 a0004c0009t0003 a0005c0010t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(151): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0003g0149 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0004g0129 a0001c0001t0006g0160 a0001c0001t0009g0161 a0001c0001t0011g0119 a0001c0001t0015g0163 a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0035 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0180 a0001c0002t0005g0069 a0001c0002t0007g0016 a0001c0002t0007g0053 a0001c0002t0008g0045 a0001c0002t0008g0047 a0001c0002t0013g0062 a0001c0002t0016g0046 a0001c0003t0001g0155 a0001c0004t0005g0048 a0001c0004t0005g0049 a0001c0004t0005g0051 a0001c0005t0001g0126 a0001c0011t0006g0167 a0003c0006t0012g0018 a0004c0009t0003g0088 a0005c0010t0001g0130	154	180	0.8556	31	c.256 others(48): Show c.256+5539_256+5540insAAGGCCTCGCCCTGAGTGGCCGACTCCT TCC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168623622	C C	CACACCTG others(24): Show CACACCTGTAATAATTACCAGGTGTAATAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02135.hp1 HG02293.hp2 others(3): Show HG01346.hp1 HG02135.hp1 HG02293.hp2 NA18951.hp1 NA19065.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0002t0002g0006 a0001c0002t0002g0026 a0001c0002t0002g0031	6	180	0.0333	31	c.907 others(50): Show c.907+15385_907+15386insACCTGTAATAATTACCAGGTGTAATA AAAAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246025234	G G	GAGATACA others(24): Show GAGATACAGGAAGTAGACAGCATCTAGGAAGA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	150	0.0067	31	c.532 others(50): Show c.532-95298_532-95297insTCTTCCTAGATGCTGTCTACTTCCTG TATCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246180273	G G	GTATATAT others(24): Show GTATATATAAACTACTTATATATATATAAGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01952.hp1 HG01981.hp1 others(3): Show HG00140.hp2 HG01952.hp1 HG01981.hp1 HG02273.hp2 HG04115.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0002t0001g0015 others(3): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0002t0001g0015 a0001c0002t0001g0056 a0001c0002t0002g0077 a0002c0003t0001g0109	6	150	0.0400	31	c.531 others(52): Show c.531+146897_531+146927dupTACTTATATATATATAAGTAGTTT ATATATA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251477	T T	TCGGACAC others(24): Show TCGGACACTGCGCCCGGCTTTAGTAGGTGCCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG02717.hp2 others(2): Show HG01243.hp2 HG02622.hp2 HG02717.hp2 HG02970.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002	a0001c0006t0001g0022 a0002c0003t0001g0133 a0002c0003t0002g0116 others(2): Show a0001c0006t0001g0022 a0002c0003t0001g0133 a0002c0003t0002g0116 a0002c0003t0002g0145 a0002c0003t0002g0147	5	150	0.0333	31	c.531 others(50): Show c.531+75723_531+75724insCGGCACCTACTAAAGCCGGGCGCAGT GTCCG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251487	T T	TGCCCGGC others(24): Show TGCCCGGCTTTAGTAGGTGCCGCGGACACTGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	150	0.0067	31	c.531 others(50): Show c.531+75683_531+75713dupGCAGTGTCCGCGGCACCTACTAAAGC CGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251502	G G	GGTGCCTC others(24): Show GGTGCCTCGGACACTGCGCCCGGCTTTAGTAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0135 a0002c0008t0001g0135	1	150	0.0067	31	c.531 others(50): Show c.531+75698_531+75699insGTACTAAAGCCGGGCGCAGTGTCCGA GGCAC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251704	T T	TGCCCGGC others(24): Show TGCCCGGCTTTAGTAGGTGCCTCGGACACTGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0130 a0002c0003t0002g0130	1	150	0.0067	31	c.531 others(50): Show c.531+75496_531+75497insGCAGTGTCCGAGGCACCTACTAAAGC CGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251818	G G	GCGGACAC others(24): Show GCGGACACTGTGCCCGGCTTTAGTAGGTGCCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG02886.hp1 others(8): Show HG02258.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0018 a0001c0002t0001g0024 a0001c0006t0001g0022 others(8): Show a0001c0001t0001g0018 a0001c0002t0001g0024 a0001c0006t0001g0022 a0002c0003t0001g0096 a0002c0003t0001g0137 a0002c0003t0001g0141 a0002c0003t0002g0095 a0002c0004t0001g0140 a0002c0004t0002g0139 a0002c0005t0001g0142 a0002c0005t0002g0106	11	150	0.0733	31	c.531 others(50): Show c.531+75352_531+75382dupAGGCACCTACTAAAGCCGGGCACAGT GTCCG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246252190	T T	TCGGACAC others(24): Show TCGGACACTGCGCCCGGCTTTAGTAGGTGCCG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01243.hp1 others(6): Show HG00733.hp2 HG01109.hp1 HG01243.hp1 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02717.hp1 HG03130.hp1 NA18522.hp1	a0002 a0002	a0002c0007 a0002c0008 a0002c0017 a0002c0007 a0002c0008 a0002c0017	a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 others(2): Show a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001	a0002c0007t0001g0120 a0002c0007t0001g0123 a0002c0007t0001g0124 others(6): Show a0002c0007t0001g0120 a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0017t0001g0122	9	150	0.0600	31	c.531 others(50): Show c.531+75010_531+75011insCGGCACCTACTAAAGCCGGGCGCAGT GTCCG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246378706	A A	ATATATAT others(24): Show ATATATATAATATATTATATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	150	0.0067	31	c.165 others(50): Show c.165-23613_165-23612insATTATATATAATATATAATATATTAT ATATA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246435702	G G	GAAGAATT others(24): Show GAAGAATTCCAAGGAGAAGATACAAGAATTCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00621.hp2 others(32): Show HG00423.hp2 HG00544.hp1 HG00621.hp2 HG00738.hp2 HG01496.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02809.hp2 HG02895.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03491.hp1 HG03579.hp1 HG04228.hp1 NA18962.hp2 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18984.hp1 NA18984.hp2 NA19086.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0012 a0001c0014 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(32): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0057 a0001c0001t0002g0080 a0001c0002t0001g0012 a0001c0002t0001g0024 a0001c0002t0001g0041 a0001c0002t0001g0073 a0001c0002t0002g0078 a0001c0002t0002g0084 a0001c0006t0001g0035 a0001c0011t0002g0049 a0001c0012t0002g0074 a0001c0014t0002g0091 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0109 a0002c0003t0001g0111 a0002c0003t0001g0144 a0002c0003t0001g0148 a0002c0003t0002g0102 a0002c0003t0002g0104 a0002c0003t0002g0110 a0002c0004t0001g0119 a0002c0005t0001g0138 a0002c0005t0001g0146 a0002c0005t0002g0118	35	150	0.2333	31	c.164 others(50): Show c.164+71321_164+71351dupGGAATTCTTGTATCTTCTCCTTGGAA TTCTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246462177	C C	CGCCTGCT others(24): Show CGCCTGCTGGGTACAGTGCATCCTCCCGCGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0132 a0002c0007t0001g0132	1	150	0.0067	31	c.164 others(50): Show c.164+44846_164+44876dupCCCGCGGGAGGATGCACTGTACCCAG CAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD4_chr17_1774485_1834902	1794105	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18961.hp1 NA20905.hp2 HG00438.hp2 NA18961.hp1 NA20905.hp2	a0003 a0006 a0009 a0003 a0006 a0009	a0003c0003 a0006c0005 a0009c0009 a0003c0003 a0006c0005 a0009c0009	a0003c0003t0004 a0006c0005t0005 a0009c0009t0001 a0003c0003t0004 a0006c0005t0005 a0009c0009t0001	a0003c0003t0004g0024 a0006c0005t0005g0088 a0009c0009t0001g0094 a0003c0003t0004g0024 a0006c0005t0005g0088 a0009c0009t0001g0094	3	390	0.0077	31	c.153 others(50): Show c.1537+5751_1537+5752insAAAAAAAAATATATATATATATATAT ATATA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SNAI3_chr16_88672688_88691507	88682762	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	400	0.0025	31	c.77- others(46): Show c.77-1049_77-1048insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SNAI3	ENSG00000185669.6	transcript	ENST00000332281.6	protein_coding	1/2			chr16	TogoVar

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