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
SMARCB1_chr22_23781966_23843009	23799679	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0174 a0001c0002t0003g0174	1	363	0.0028	21	c.363 others(38): Show c.363-1262_363-1242dupTTTTTTTTTTTTTTTTTTTTT		SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCD1_chr12_50080342_50105707	50086479	T T	TTGGTGGT others(14): Show TTGGTGGTGGTAGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(168): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02630.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19078.hp1 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(73): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0004g0001 a0001c0001t0005g0023 a0001c0001t0008g0064 a0001c0001t0010g0008 a0001c0001t0012g0027 a0001c0002t0001g0001	171	366	0.4672	21	c.366 others(36): Show c.366-132_366-131insAGTGGTGGTGGTGGTGGTGGT		SMARCD1	ENSG00000066117.15	transcript	ENST00000394963.9	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
SMARCD1_chr12_50080342_50105707	50086479	T T	TTGGTGGT others(14): Show TTGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00741.hp2 others(3): Show HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01891.hp2 NA18953.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0134 a0001c0001t0001g0135 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136	6	366	0.0164	21	c.365 others(36): Show c.365+133_366-120dupGGTGGTGGTGGTGGTGGTGGT		SMARCD1	ENSG00000066117.15	transcript	ENST00000394963.9	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
SMARCD1_chr12_50080342_50105707	50086496	G G	GGTGGTGG others(14): Show GGTGGTGGTGGTGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	366	0.0027	21	c.366 others(36): Show c.366-120_366-119insGGTGGTGGTGGTGGTAGTGGT		SMARCD1	ENSG00000066117.15	transcript	ENST00000394963.9	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG00738.hp1 others(29): Show HG00597.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01255.hp1 HG01433.hp1 HG01981.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03540.hp2 HG03710.hp1 NA18953.hp1 NA18989.hp1 NA18995.hp1 NA19004.hp1 NA19011.hp2 NA19056.hp1 NA19070.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0023 others(29): Show a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0003g0111 a0001c0001t0003g0120 a0001c0001t0003g0123 a0001c0001t0004g0096 a0001c0001t0004g0112 a0001c0001t0012g0068	32	213	0.1502	21	c.242 others(38): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTTTT		SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24						chrX	TogoVar
SMC1A_chrX_53369149_53427654	53402885	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	213	0.0047	21	c.242 others(38): Show c.2420+680_2420+681insCTTTTTTTTTTTTTTTTTTTT		SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24						chrX	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02257.hp1 HG03453.hp2 others(4): Show HG00597.hp2 HG02257.hp1 HG03453.hp2 HG03540.hp1 NA18943.hp1 NA19007.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0067 a0001c0001t0001g0113 a0001c0001t0001g0115 others(4): Show a0001c0001t0001g0067 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0002g0189 a0001c0001t0003g0122 a0001c0001t0012g0068	7	213	0.0329	21	c.125 others(38): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTT		SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24						chrX	TogoVar
SMC1B_chr22_45339063_45418599	45353893	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18960.hp1 NA18944.hp2 NA18960.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0009 a0002c0001t0002g0009	2	360	0.0056	21	c.327 others(36): Show c.3273+64_3273+84dupTTTTTTTTTTTTTTTTTTTTT		SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	21/24						chr22	TogoVar
SMC3_chr10_110562695_110611048	110607292	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG02135.hp1 others(7): Show HG01081.hp1 HG01192.hp1 HG02135.hp1 HG02735.hp2 NA18987.hp1 NA18990.hp2 NA18993.hp2 NA18999.hp2 NA19004.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0001c0001t0021 a0001c0001t0022 others(1): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0022 a0002c0005t0002	a0001c0001t0002g0002 a0001c0001t0002g0115 a0001c0001t0002g0126 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0115 a0001c0001t0002g0126 a0001c0001t0002g0134 a0001c0001t0002g0143 a0001c0001t0002g0152 a0001c0001t0002g0161 a0001c0001t0021g0025 a0001c0001t0022g0150 a0002c0005t0002g0006	10	328	0.0305	21	c.29 others(32): Show c.2990_*2991insAAAAAAAAAAAAAAAAAAAAA		SMC3	ENSG00000108055.11	transcript	ENST00000361804.5	protein_coding					1245		chr10	TogoVar
SMC4_chr3_160394650_160439953	160409265	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	332	0.0030	21	c.688 others(38): Show c.688-2648_688-2628dupAAAAAAAAAAAAAAAAAAAAA		SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	5/23					INFO_REALIGN_3_PRIME	chr3	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(14): Show TATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19240.hp1 HG02622.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0009 a0001c0005t0007 a0001c0005t0009	a0001c0005t0007g0026 a0001c0005t0009g0241 a0001c0005t0007g0026 a0001c0005t0009g0241	2	340	0.0059	21	c.226 others(38): Show c.2260+988_2260+989insTATATATATATATATATAAAA		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2793656	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0152 a0001c0004t0002g0152	1	340	0.0029	21	c.572 others(40): Show c.5720-2278_5720-2277insAAAAAAAAAAAAAAAAAAAAA		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	45/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2807547	T T	TAGATAAA others(14): Show TAGATAAACACAATTCATTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0046 a0001c0005t0046	a0001c0005t0046g0159 a0001c0005t0046g0159	1	340	0.0029	21	c.49 others(32): Show c.4995_*4996insAGATAAACACAATTCATTGCA		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding					2531		chr18	TogoVar
SMCO4_chr11_93473472_93548391	93535787	A A	AAGCAGCA others(14): Show AAGCAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0343 a0001c0001t0002g0343	1	412	0.0024	21	c.-15 others(40): Show c.-154+7488_-154+7489insGCTGCTGCTGCTGCTGCTGCT		SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2						chr11	TogoVar
SMG1_chr16_18799860_18931408	18849069	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0216 a0001c0003t0013g0216	1	300	0.0033	21	c.562 others(38): Show c.5623+127_5623+147dupTTTTTTTTTTTTTTTTTTTTT		SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	36/62						chr16	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01943.hp1 HG02132.hp2 others(8): Show HG01891.hp1 HG01943.hp1 HG02132.hp2 HG02683.hp1 HG02698.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp1 NA19065.hp2 NA19070.hp2 NA19090.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0004c0004t0001	a0002c0002t0001g0004 a0002c0002t0001g0029 a0002c0002t0001g0031 others(8): Show a0002c0002t0001g0004 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0036 a0002c0002t0001g0042 a0002c0002t0001g0081 a0002c0002t0001g0086 a0002c0002t0001g0130 a0002c0002t0002g0089 a0002c0002t0005g0107 a0004c0004t0001g0011	11	278	0.0396	21	c.335 others(42): Show c.3357+42391_3357+42392insTTTTTTTTTTTTTTTTTTTTT		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18						chr17	TogoVar
SMG6_chr17_2054843_2308785	2130281	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0003 a0011c0008t0003	a0011c0008t0003g0223 a0011c0008t0003g0223	1	278	0.0036	21	c.335 others(42): Show c.3357+42376_3357+42377insCTTTTTTTTTTTTTTTTTTTT		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18						chr17	TogoVar
SMG9_chr19_43722983_43759962	43752902	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03486.hp1 HG02809.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0022 a0001c0001t0002 a0002c0003t0022	a0001c0001t0002g0074 a0002c0003t0022g0091 a0001c0001t0002g0074 a0002c0003t0022g0091	2	320	0.0063	21	c.-7+ others(36): Show c.-7+1751_-7+1752insTTTTTTTTTTTTTTTTTTTTT		SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	1/13						chr19	TogoVar
SMIM14_chr4_39541336_39643865	39576685	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG04204.hp2 HG02071.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0076 a0001c0001t0021g0002 a0001c0001t0002g0076 a0001c0001t0021g0002	2	344	0.0058	21	c.76- others(36): Show c.76-4223_76-4222insTATATATATATATATATATAT		SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4						chr4	TogoVar
SMIM14_chr4_39541336_39643865	39584481	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp2 HG01192.hp1 others(7): Show HG01074.hp1 HG01109.hp2 HG01192.hp1 HG01258.hp2 HG03239.hp2 HG03491.hp2 HG03540.hp2 NA18993.hp2 NA19070.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0023 a0001c0001t0043	a0001c0001t0001g0138 a0001c0001t0004g0010 a0001c0001t0004g0165 others(7): Show a0001c0001t0001g0138 a0001c0001t0004g0010 a0001c0001t0004g0165 a0001c0001t0004g0206 a0001c0001t0004g0277 a0001c0001t0004g0338 a0001c0001t0012g0293 a0001c0001t0013g0146 a0001c0001t0023g0340 a0001c0001t0043g0342	10	344	0.0291	21	c.76- others(38): Show c.76-12039_76-12019dupTTTTTTTTTTTTTTTTTTTTT		SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4						chr4	TogoVar
SMIM28_chr6_138372905_138388486	138380787	T T	TAAATAAA others(14): Show TAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01099.hp2 others(41): Show HG00140.hp2 HG00738.hp1 HG01099.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG02027.hp2 HG02055.hp1 HG02148.hp1 HG02165.hp2 HG02280.hp1 HG02451.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03453.hp2 HG03834.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18961.hp2 NA18966.hp2 NA18968.hp2 NA18973.hp2 NA18981.hp2 NA18990.hp1 NA18992.hp2 NA19001.hp1 NA19002.hp1 NA19005.hp2 NA19058.hp2 NA19064.hp2 NA19066.hp1 NA19077.hp1 NA19083.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0002c0002t0002 a0002c0002t0003 a0002c0003t0002	a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 others(4): Show a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0003g0042 a0002c0003t0002g0006	44	374	0.1177	21	c.112 others(38): Show c.112-1709_112-1708insAAATAAATAAATAAATAAAAT		SMIM28	ENSG00000262543.2	transcript	ENST00000573100.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM35_chr11_117998634_118091963	118045349	C C	CACACACA others(14): Show CACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	408	0.0025	21	c.8-2 others(36): Show c.8-29541_8-29540insTGTGTGTGTGTGTGTGTGTGT		SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4						chr11	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	21	c.16 others(32): Show c.1695_*1696insTATATATATATTTTTTTTTTT		SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding					585		chr5	TogoVar
SMKR1_chr7_129497531_129517918	129499488	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	422	0.0024	21	c.-33 others(32): Show c.-3337_-3336insTTTTTTTTTTTTTTTTTTTTT		SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding					3042		chr7	TogoVar
SMOC1_chr14_69874416_70037366	69965377	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp1 HG02145.hp2 others(4): Show HG00438.hp1 HG01243.hp1 HG02145.hp2 HG02896.hp1 HG02897.hp1 NA19003.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0002t0002	a0001c0001t0001g0041 a0001c0001t0005g0189 a0001c0001t0008g0002 others(3): Show a0001c0001t0001g0041 a0001c0001t0005g0189 a0001c0001t0008g0002 a0001c0001t0008g0057 a0001c0002t0002g0136 a0001c0002t0002g0183	7	270	0.0259	21	c.379 others(40): Show c.379-10329_379-10309dupTAATAATAATAATAATAATAA		SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC1_chr14_69874416_70037366	69965404	T T	TAATAATA others(14): Show TAATAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00597.hp2 others(20): Show HG00140.hp2 HG00423.hp2 HG00597.hp2 HG01346.hp2 HG01516.hp1 HG02055.hp2 HG02738.hp2 HG04115.hp2 HG04184.hp1 NA18612.hp2 NA18942.hp1 NA18949.hp2 NA18953.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp2 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19057.hp2 NA19068.hp2 NA19084.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0024 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0024 a0001c0002t0025 a0001c0002t0028 a0001c0004t0001 a0001c0004t0004	a0001c0002t0001g0117 a0001c0002t0001g0257 a0001c0002t0002g0012 others(20): Show a0001c0002t0001g0117 a0001c0002t0001g0257 a0001c0002t0002g0012 a0001c0002t0002g0023 a0001c0002t0002g0129 a0001c0002t0002g0142 a0001c0002t0002g0156 a0001c0002t0002g0164 a0001c0002t0002g0175 a0001c0002t0002g0185 a0001c0002t0002g0191 a0001c0002t0002g0194 a0001c0002t0002g0197 a0001c0002t0002g0200 a0001c0002t0002g0209 a0001c0002t0002g0212 a0001c0002t0002g0245 a0001c0002t0002g0248 a0001c0002t0024g0133 a0001c0002t0025g0240 a0001c0002t0028g0223 a0001c0004t0001g0265 a0001c0004t0004g0105	23	270	0.0852	21	c.379 others(40): Show c.379-10309_379-10308insTAATAATAATAATAATAAAAA		SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOX_chr20_4143828_4192727	4162790	T T	TCCAAGAT others(14): Show TCCAAGATCACTCAGAGCTAGA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	428	0.0023	21	c.-26 others(40): Show c.-26-12237_-26-12217dupAAGATCACTCAGAGCTAGACC		SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
SMPDL3B_chr1_27930000_27964152	27933785	A A	AAAAAAAA others(14): Show AAAAAAAAACAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01361.hp2 HG02027.hp2 others(7): Show HG01261.hp1 HG01361.hp2 HG02027.hp2 HG02602.hp2 HG03209.hp2 NA18906.hp2 NA18957.hp2 NA18967.hp1 NA18989.hp1 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0002c0003t0003	a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0028 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0061 a0001c0001t0003g0080 a0001c0002t0003g0082 a0001c0002t0003g0086 a0002c0003t0003g0031	10	432	0.0232	21	c.-13 others(32): Show c.-1399_-1398insAAAAAAAACAAAAAAAAAAAC		SMPDL3B	ENSG00000130768.15	transcript	ENST00000373894.8	protein_coding					1214		chr1	TogoVar
SMPDL3B_chr1_27930000_27964152	27933785	A A	AAAAAAAA others(14): Show AAAAAAAACAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	432	0.0023	21	c.-13 others(32): Show c.-1399_-1398insAAAAAAACAAAAAAAAAAAAC		SMPDL3B	ENSG00000130768.15	transcript	ENST00000373894.8	protein_coding					1214		chr1	TogoVar
SMS_chrX_21935709_21999837	21944539	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01433.hp1 HG02451.hp1 HG01167.hp1 HG01433.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0066 a0001c0001t0004g0102 a0001c0001t0006g0082 a0001c0001t0004g0066 a0001c0001t0004g0102 a0001c0001t0006g0082	3	298	0.0101	21	c.49+ others(36): Show c.49+3672_49+3673insAAAAAAAAAAAAAAGAAAAAA		SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21988662	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	298	0.0034	21	c.945 others(38): Show c.945+3449_945+3469dupAAAAAAAAAAAAAAAAAAAAA		SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	9/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
SMURF2_chr17_64537282_64667307	64573142	A A	AGGAGGAG others(14): Show AGGAGGAGGAGGAGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01256.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0096 a0001c0001t0001g0065 a0001c0001t0001g0096	2	174	0.0115	21	c.858 others(38): Show c.858-1207_858-1187dupCCCTCCTCCTCCTCCTCCTCC		SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	9/18						chr17	TogoVar
SMURF2_chr17_64537282_64667307	64631281	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0011 a0001c0002t0004g0011	1	174	0.0058	21	c.53- others(38): Show c.53-24642_53-24641insTCTCTCTCTCTCTCTCTCTCT		SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18						chr17	TogoVar
SMYD3_chr1_245744347_246512279	245803403	A A	ATATGAAC others(14): Show ATATGAACTGGCCAATTTCACG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02071.hp1 NA18971.hp2 HG02056.hp2 HG02071.hp1 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0086 a0001c0001t0002g0087 a0002c0003t0001g0101 a0001c0001t0001g0086 a0001c0001t0002g0087 a0002c0003t0001g0101	3	150	0.0200	21	c.107 others(42): Show c.1077-39275_1077-39255dupCGTGAAATTGGCCAGTTCATA		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246339508	A A	AAAAGATC others(14): Show AAAAGATCCAACTGATCAGATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02615.hp1 HG02717.hp2 others(3): Show HG00140.hp2 HG02615.hp1 HG02717.hp2 HG03098.hp2 HG03579.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0003 others(1): Show a0001c0002 a0001c0006 a0002c0003 a0002c0004	a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001	a0001c0002t0001g0024 a0001c0002t0002g0077 a0001c0006t0001g0022 others(3): Show a0001c0002t0001g0024 a0001c0002t0002g0077 a0001c0006t0001g0022 a0002c0003t0001g0148 a0002c0003t0002g0130 a0002c0004t0001g0126	6	150	0.0400	21	c.229 others(38): Show c.229-4035_229-4034insGATCTGATCAGTTGGATCTTT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	2/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246505429	G G	GAGCAGCA others(14): Show GAGCAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	150	0.0067	21	c.164 others(38): Show c.164+1624_164+1625insGCTGCTGCTGCTGCTGCTGCT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SMYD4_chr17_1774485_1834902	1794105	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0367 a0008c0008t0002g0367	1	390	0.0026	21	c.153 others(40): Show c.1537+5751_1537+5752insAAAAAAAAAAATATATATATA		SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10						chr17	TogoVar
SNAI1_chr20_49977980_49993886	49991714	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA18946.hp1 NA18962.hp2 others(3): Show HG02074.hp1 NA18946.hp1 NA18962.hp2 NA18990.hp1 NA19068.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013	a0001c0001t0003g0001 a0001c0001t0004g0003 a0001c0001t0004g0010 others(1): Show a0001c0001t0003g0001 a0001c0001t0004g0003 a0001c0001t0004g0010 a0001c0001t0013g0014	6	440	0.0136	21	c.36 others(32): Show c.3658_*3659insAAAAAAAAAAAAAAAAAAAAA		SNAI1	ENSG00000124216.4	transcript	ENST00000244050.3	protein_coding					2829		chr20	TogoVar
SNAI3_chr16_88672688_88691507	88682762	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	400	0.0025	21	c.77- others(36): Show c.77-1069_77-1049dupAAAAAAAAAAAAAAAAAAAAA		SNAI3	ENSG00000185669.6	transcript	ENST00000332281.6	protein_coding	1/2						chr16	TogoVar
SNAP23_chr15_42490634_42538058	42512327	C C	CTCTTAAG others(14): Show CTCTTAAGGAGCGCCTGAAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp1 HG01981.hp1 others(16): Show HG01109.hp1 HG01496.hp1 HG01981.hp1 HG02109.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02897.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03579.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0009 a0001c0002t0015 a0001c0002t0003 a0001c0002t0009 a0001c0002t0015	a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 others(16): Show a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0009g0226 a0001c0002t0009g0241 a0001c0002t0015g0225	19	308	0.0617	21	c.57+ others(34): Show c.57+425_57+445dupTCTTAAGGAGCGCCTGAAAAT		SNAP23	ENSG00000092531.10	transcript	ENST00000249647.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr15	TogoVar
SNAP25_chr20_10213830_10312418	10238905	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02602.hp1 HG02622.hp1 others(6): Show HG02280.hp2 HG02602.hp1 HG02622.hp1 HG02886.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0002t0002	a0001c0001t0001g0222 a0001c0001t0001g0240 a0001c0001t0001g0312 others(6): Show a0001c0001t0001g0222 a0001c0001t0001g0240 a0001c0001t0001g0312 a0001c0001t0001g0325 a0001c0001t0002g0302 a0001c0001t0004g0334 a0001c0001t0008g0281 a0001c0001t0014g0285 a0001c0002t0002g0280	9	340	0.0265	21	c.-64 others(40): Show c.-64+19933_-64+19953dupATAATAATAATAATAATAATA		SNAP25	ENSG00000132639.15	transcript	ENST00000254976.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr20	TogoVar
SNAPC5_chr15_66488468_66502762	66492401	T T	TGTATATA others(14): Show TGTATATACATTGTTGTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01515.hp2 others(5): Show HG00280.hp2 HG00639.hp2 HG01515.hp2 HG01517.hp1 HG01978.hp2 HG02145.hp1 HG02602.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	8	428	0.0187	21	c.20 others(32): Show c.2034_*2035insTATATACAACAATGTATATAC		SNAPC5	ENSG00000174446.13	transcript	ENST00000316634.6	protein_coding					1066		chr15	TogoVar
SNCAIP_chr5_122307237_122469219	122330117	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02818.hp1 others(3): Show HG02615.hp1 HG02630.hp1 HG02818.hp1 HG02895.hp2 NA18906.hp2 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0001c0001t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0048 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0219 a0001c0001t0005g0037 a0002c0002t0001g0027	6	222	0.0270	21	c.-47 others(40): Show c.-47+17835_-47+17855dupTTTTTTTTTTTTTTTTTTTTT		SNCAIP	ENSG00000064692.20	transcript	ENST00000261368.13	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SND1_chr7_127647194_128097593	127652379	G G	GTCCTCCG others(14): Show GTCCTCCGCGCAGAGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02602.hp1 HG03688.hp2 HG04199.hp1 others(1): Show HG02602.hp1 HG03688.hp2 HG04199.hp1 HG04204.hp1	a0003 a0003	a0003c0005 a0003c0008 a0003c0005 a0003c0008	a0003c0005t0001 a0003c0005t0003 a0003c0008t0003 a0003c0005t0001 a0003c0005t0003 a0003c0008t0003	a0003c0005t0001g0178 a0003c0005t0001g0181 a0003c0005t0003g0179 others(1): Show a0003c0005t0001g0178 a0003c0005t0001g0181 a0003c0005t0003g0179 a0003c0008t0003g0182	4	262	0.0153	21	c.14_ others(26): Show c.14_34dupCGCAGAGCGGCGGCTCCTCCG	p.Ala others(10): Show p.Ala5_Ser11dup	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	1/24	215/3448	35/2733	12/910		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNIP1_chr1_37529449_37559293	37535239	T T	TATATATA others(14): Show TATATATATATATATATATAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0278 a0001c0001t0079g0278	1	394	0.0025	21	c.25 others(32): Show c.2508_*2509insTTTATATATATATATATATAT		SNIP1	ENSG00000163877.11	transcript	ENST00000296215.8	protein_coding	4/4				2508		chr1	TogoVar
SNRK_chr3_43281540_43356143	43322951	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20129.hp1 HG03041.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0224 a0001c0001t0001g0158 a0001c0001t0001g0224	2	258	0.0078	21	c.590 others(38): Show c.590-9203_590-9202insAAAAAAAAAAAAAAAAAAAAA		SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRK_chr3_43281540_43356143	43348955	C C	CTCTGAGA others(14): Show CTCTGAGACACACTCTCTGGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0110 a0001c0001t0013g0110	1	258	0.0039	21	c.40 others(30): Show c.408_*428dupCACTCTCTGGTGTCTGAGACA		SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	7/7				429	INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRPA1_chr15_101276510_101300248	101289925	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA20905.hp1 HG00738.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0073 a0001c0001t0001g0084	2	442	0.0045	21	c.309 others(38): Show c.309+2036_309+2037insTTTTTTTTTTTTTTTTTTTTT		SNRPA1	ENSG00000131876.18	transcript	ENST00000254193.11	protein_coding	3/8						chr15	TogoVar
SNRPC_chr6_34752505_34778857	34754978	T T	TAACAGCA others(14): Show TAACAGCATACCTACCCCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	368	0.0027	21	c.-25 others(32): Show c.-2566_-2565insAACAGCATACCTACCCCCTAC		SNRPC	ENSG00000124562.10	transcript	ENST00000244520.10	protein_coding					2526		chr6	TogoVar
SNRPD3_chr22_24550999_24579971	24561064	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18954.hp2 HG04199.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0246 a0001c0002t0010g0230 a0001c0002t0002g0246 a0001c0002t0010g0230	2	400	0.0050	21	c.126 others(38): Show c.126+3269_126+3289dupTTTTTTTTTTTTTTTTTTTTT		SNRPD3	ENSG00000100028.12	transcript	ENST00000215829.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr22	TogoVar

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