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
SLCO1C1_chr12_20690332_20758386	20724407	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03209.hp2 NA19043.hp2 others(1): Show HG02559.hp1 HG03209.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0002 a0001c0003t0005g0025 a0001c0003t0005g0026 a0001c0003t0005g0002 a0001c0003t0005g0025 a0001c0003t0005g0026	4	296	0.0135	-24	c.118 others(43): Show c.1186+1155_1186+1178delGTGTATATATATATATATATATAT	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO1C1_chr12_20690332_20758386	20740781	TTTTATTT others(17): Show TTTTATTTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03209.hp2 NA19043.hp2 others(1): Show HG02559.hp1 HG03209.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0002 a0001c0003t0005g0025 a0001c0003t0005g0026 a0001c0003t0005g0002 a0001c0003t0005g0025 a0001c0003t0005g0026	4	296	0.0135	-24	c.173 others(41): Show c.1733+415_1733+438delTTATTTATATATATATATATATAT	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO2A1_chr3_133927701_134034925	134032695	CAAATAAA others(17): Show CAAATAAATAAATAAATAAATAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	342	0.0029	-24	c.-29 others(35): Show c.-2917_-2894delATTTATTTATTTATTTATTTATTT	SLCO2A1	ENSG00000174640.15	transcript	ENST00000310926.11	protein_coding		2771		chr3	TogoVar
SLCO3A1_chr15_91848708_92170903	91880111	GTCCGTCC others(17): Show GTCCGTCCGTCCGTCCGTCCGTCCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02132.hp2 others(9): Show HG01109.hp1 HG02055.hp2 HG02132.hp2 HG02257.hp1 HG02559.hp1 HG02622.hp1 HG02818.hp2 HG02976.hp1 HG03225.hp2 NA18986.hp2 NA19064.hp2 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0003c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0019 a0001c0001t0027 a0001c0001t0029 a0001c0001t0059 a0001c0002t0026 a0001c0002t0053 a0001c0004t0004 a0001c0006t0004 a0003c0012t0004	a0001c0001t0001g0105 a0001c0001t0003g0014 a0001c0001t0008g0132 others(9): Show a0001c0001t0001g0105 a0001c0001t0003g0014 a0001c0001t0008g0132 a0001c0001t0019g0015 a0001c0001t0027g0040 a0001c0001t0029g0131 a0001c0001t0059g0166 a0001c0002t0026g0140 a0001c0002t0053g0180 a0001c0004t0004g0042 a0001c0006t0004g0041 a0003c0012t0004g0153	12	190	0.0632	-24	c.180 others(43): Show c.180+26027_180+26050delGTCCGTCCGTCCGTCCGTCCATCC	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016238	TAGATAGA others(17): Show TAGATAGATAGATAGATTAGATAGA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0058 a0001c0001t0023g0058	1	190	0.0053	-24	c.647 others(43): Show c.647-78642_647-78619delAGATAGATAGATAGATTAGATAGA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62673252	GCAGGAAC others(17): Show GCAGGAACAGACCCTAGAGGGAGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01255.hp1 others(37): Show HG00438.hp1 HG00642.hp1 HG01255.hp1 HG02148.hp1 HG02451.hp2 HG02572.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03471.hp1 HG03579.hp2 HG04115.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18950.hp2 NA18954.hp2 NA18961.hp2 NA18964.hp1 NA18972.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18990.hp1 NA18992.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19030.hp2 NA19043.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp1 NA19085.hp2 NA19086.hp1	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0013	a0001c0001 a0001c0014 a0001c0034 others(4): Show a0001c0001 a0001c0014 a0001c0034 a0001c0039 a0002c0002 a0011c0036 a0013c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0014t0001 a0001c0034t0001 a0001c0039t0005 a0002c0002t0003 a0011c0036t0001 a0013c0035t0003	a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0281 others(33): Show a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0281 a0001c0001t0001g0328 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0344 a0001c0001t0002g0171 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0038 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0130 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0185 a0001c0001t0003g0308 a0001c0001t0003g0351 a0001c0001t0005g0286 a0001c0001t0008g0002 a0001c0001t0008g0108 a0001c0001t0009g0001 a0001c0001t0014g0180 a0001c0001t0016g0172 a0001c0001t0021g0187 a0001c0001t0024g0001 a0001c0001t0025g0358 a0001c0014t0001g0231 a0001c0034t0001g0028 a0001c0039t0005g0346 a0002c0002t0003g0134 a0011c0036t0001g0001 a0013c0035t0003g0194	40	432	0.0926	-24	c.13 others(35): Show c.1360_*1383delCAGGAACAGACCCTAGAGGGAGTA	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding		960		chr20	TogoVar
SLCO4C1_chr5_102228986_102301284	102289866	TACTTACC others(17): Show TACTTACCTAATAAGTGCACTTCTA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03486.hp2 HG02723.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0188 a0001c0002t0014g0189 a0001c0002t0014g0188 a0001c0002t0014g0189	2	354	0.0057	-24	c.619 others(41): Show c.619+1453_619+1476delTAGAAGTGCACTTATTAGGTAAGT	SLCO4C1	ENSG00000173930.9	transcript	ENST00000310954.7	protein_coding	2/12			chr5	TogoVar
SLCO5A1_chr8_69662046_69839978	69762118	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00558.hp1 others(26): Show HG00099.hp1 HG00544.hp1 HG00558.hp1 HG00642.hp1 HG00673.hp1 HG01069.hp2 HG01123.hp2 HG01167.hp1 HG01891.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02145.hp2 HG02647.hp2 HG02886.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03486.hp1 NA18957.hp2 NA18960.hp1 NA18967.hp2 NA18974.hp2 NA18977.hp2 NA19010.hp2 NA19079.hp1 NA19079.hp2 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0015	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0002c0013 a0004c0005 a0015c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(20): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 a0001c0001t0025 a0001c0001t0032 a0001c0001t0039 a0001c0004t0012 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0067 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0085 a0002c0002t0087 a0002c0013t0096 a0004c0005t0004 a0015c0014t0026	a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0005g0170 others(26): Show a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0005g0170 a0001c0001t0007g0211 a0001c0001t0007g0240 a0001c0001t0007g0248 a0001c0001t0008g0197 a0001c0001t0009g0217 a0001c0001t0011g0174 a0001c0001t0021g0184 a0001c0001t0021g0229 a0001c0001t0025g0137 a0001c0001t0032g0019 a0001c0001t0039g0151 a0001c0004t0012g0138 a0002c0002t0002g0011 a0002c0002t0002g0039 a0002c0002t0004g0113 a0002c0002t0004g0117 a0002c0002t0006g0013 a0002c0002t0067g0037 a0002c0002t0078g0028 a0002c0002t0079g0010 a0002c0002t0080g0061 a0002c0002t0085g0103 a0002c0002t0087g0099 a0002c0013t0096g0265 a0004c0005t0004g0105 a0015c0014t0026g0227	29	280	0.1036	-24	c.908 others(39): Show c.908-267_908-244delGAAAGAAAGAAAGAAAGAAAGAAA	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLCO5A1_chr8_69662046_69839978	69784895	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp1 HG02922.hp2 others(4): Show HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG03486.hp2 NA18906.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0017 a0002c0002 a0003c0007 others(1): Show a0001c0017 a0002c0002 a0003c0007 a0012c0020	a0001c0017t0001 a0002c0002t0002 a0002c0002t0079 others(2): Show a0001c0017t0001 a0002c0002t0002 a0002c0002t0079 a0003c0007t0058 a0012c0020t0088	a0001c0017t0001g0224 a0002c0002t0002g0011 a0002c0002t0002g0012 others(4): Show a0001c0017t0001g0224 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0033 a0002c0002t0079g0010 a0003c0007t0058g0004 a0012c0020t0088g0109	7	280	0.0250	-24	c.908 others(43): Show c.908-23044_908-23021delTCTTTCTTTCTTTCTTTCTTTCTT	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLCO5A1_chr8_69662046_69839978	69836787	TTCATTCC others(17): Show TTCATTCCCTGCCATTGTCTCCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0017 a0007c0009t0017	a0007c0009t0017g0034 a0007c0009t0017g0034	1	280	0.0036	-24	c.-24 others(35): Show c.-2454_-2431delGGAGGAGACAATGGCAGGGAATGA	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding		1810		chr8	TogoVar
SLCO6A1_chr5_102366774_102504001	102460899	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19081.hp2 HG02080.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0223 a0001c0001t0001g0179 a0001c0001t0001g0223	2	342	0.0059	-24	c.900 others(41): Show c.900-1146_900-1123delATATATATATATATATATATATAT	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	4/13			chr5	TogoVar
SLFN11_chr17_35345305_35378621	35378447	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG03654.hp1 HG04115.hp1 others(1): Show HG02027.hp2 HG03654.hp1 HG04115.hp1 NA20805.hp1	a0001 a0011 a0028 a0001 a0011 a0028	a0001c0002 a0001c0007 a0011c0015 others(1): Show a0001c0002 a0001c0007 a0011c0015 a0028c0036	a0001c0002t0001 a0001c0007t0018 a0011c0015t0010 others(1): Show a0001c0002t0001 a0001c0007t0018 a0011c0015t0010 a0028c0036t0001	a0001c0002t0001g0191 a0001c0007t0018g0076 a0011c0015t0010g0034 others(1): Show a0001c0002t0001g0191 a0001c0007t0018g0076 a0011c0015t0010g0034 a0028c0036t0001g0212	4	466	0.0086	-24	c.-52 others(35): Show c.-5232_-5209delTATATATATATATATATATATATA	SLFN11	ENSG00000172716.17	transcript	ENST00000685675.1	protein_coding		4827		chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35476454	CAAGGAAG others(17): Show CAAGGAAGGAAGGAAGGAAGGAAGG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01109.hp2 HG04228.hp1 others(2): Show HG00621.hp2 HG01109.hp2 HG04228.hp1 NA18967.hp2 NA19081.hp2	a0003 a0004 a0010 a0003 a0004 a0010	a0003c0005 a0004c0004 a0010c0016 a0003c0005 a0004c0004 a0010c0016	a0003c0005t0053 a0004c0004t0003 a0004c0004t0116 others(1): Show a0003c0005t0053 a0004c0004t0003 a0004c0004t0116 a0010c0016t0099	a0003c0005t0053g0010 a0004c0004t0003g0137 a0004c0004t0003g0152 others(2): Show a0003c0005t0053g0010 a0004c0004t0003g0137 a0004c0004t0003g0152 a0004c0004t0116g0149 a0010c0016t0099g0083	5	360	0.0139	-24	c.127 others(41): Show c.1277-993_1277-970delCCTTCCTTCCTTCCTTCCTTCCTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	4/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35539332	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 NA18981.hp2 HG03710.hp1 NA18981.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0043 a0003c0005t0007 a0002c0003t0043 a0003c0005t0007	a0002c0003t0043g0302 a0003c0005t0007g0096 a0002c0003t0043g0302 a0003c0005t0007g0096	2	360	0.0056	-24	c.-23 others(35): Show c.-2389_-2366delCTTTCTTTCTTTCTTTCTTTCTTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding		1655		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35539332	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG03710.hp1 NA18977.hp2 others(1): Show HG01934.hp2 HG03710.hp1 NA18977.hp2 NA18981.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0009c0011	a0001c0001t0001 a0002c0002t0002 a0004c0004t0005 others(1): Show a0001c0001t0001 a0002c0002t0002 a0004c0004t0005 a0009c0011t0001	a0001c0001t0001g0001 a0002c0002t0002g0002 a0004c0004t0005g0005 others(1): Show a0001c0001t0001g0001 a0002c0002t0002g0002 a0004c0004t0005g0005 a0009c0011t0001g0079	4	428	0.0094	-24	c.88 others(35): Show c.8883_*8906delCTTTCTTTCTTTCTTTCTTTCTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		4652		chr17	TogoVar
SLIT1_chr10_96993038_97190959	97146904	ATCTGGTG others(17): Show ATCTGGTGGAAAAGGCATTGCCTTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(29): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00735.hp2 HG01081.hp1 HG01106.hp1 HG01243.hp2 HG01433.hp2 HG02083.hp1 HG02109.hp2 HG02155.hp1 HG02523.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG03516.hp2 HG03704.hp1 HG03834.hp1 HG04204.hp2 NA18939.hp2 NA18960.hp1 NA18993.hp2 NA18994.hp1 NA19067.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0009 a0001c0009t0027 a0001c0032t0001	a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0182 others(29): Show a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0236 a0001c0001t0001g0245 a0001c0001t0002g0066 a0001c0001t0002g0128 a0001c0001t0002g0148 a0001c0001t0019g0155 a0001c0001t0021g0031 a0001c0001t0022g0254 a0001c0001t0028g0093 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0037 a0001c0002t0001g0067 a0001c0002t0001g0149 a0001c0002t0001g0181 a0001c0003t0001g0096 a0001c0003t0006g0036 a0001c0004t0001g0147 a0001c0004t0001g0210 a0001c0005t0001g0192 a0001c0006t0001g0056 a0001c0006t0009g0055 a0001c0009t0027g0223 a0001c0032t0001g0061	32	256	0.1250	-24	c.413 others(43): Show c.413+10890_413+10913delGAAGGCAATGCCTTTTCCACCAGA	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	4/36			chr10	TogoVar
SLIT2_chr4_20246905_20625561	20291474	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0111 a0001c0002t0048g0111	1	230	0.0044	-24	c.395 others(43): Show c.395+22595_395+22618delATATATATATATATATATTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20291476	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18983.hp1 HG01496.hp1 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0009 a0001c0002 a0002c0009	a0001c0002t0001 a0002c0009t0001 a0001c0002t0001 a0002c0009t0001	a0001c0002t0001g0118 a0002c0009t0001g0110 a0001c0002t0001g0118 a0002c0009t0001g0110	2	230	0.0087	-24	c.395 others(43): Show c.395+22597_395+22620delATATATATATATATATTTTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20302985	ATCTACAT others(17): Show ATCTACATTAAATCTTATCCCATTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(55): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02055.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp1 HG03017.hp2 HG03453.hp2 HG03688.hp2 HG03710.hp2 HG04184.hp2 HG04228.hp1 NA18941.hp2 NA18944.hp2 NA18952.hp2 NA18964.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18990.hp2 NA19010.hp2 NA19060.hp1 NA19063.hp1 NA19078.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0002c0009 a0004c0015 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0020 a0001c0001t0039 a0001c0001t0047 a0001c0001t0062 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0028 a0001c0002t0048 a0001c0002t0049 a0001c0003t0001 a0001c0003t0006 a0001c0003t0032 a0001c0003t0050 a0001c0004t0002 a0001c0004t0041 a0001c0005t0033 a0001c0006t0042 a0001c0008t0001 a0002c0009t0001 a0004c0015t0002 a0006c0018t0005	a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0081 others(55): Show a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0081 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0002g0074 a0001c0001t0002g0117 a0001c0001t0002g0130 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0005g0095 a0001c0001t0005g0119 a0001c0001t0005g0137 a0001c0001t0005g0163 a0001c0001t0006g0082 a0001c0001t0006g0127 a0001c0001t0015g0002 a0001c0001t0015g0097 a0001c0001t0020g0096 a0001c0001t0020g0131 a0001c0001t0039g0142 a0001c0001t0047g0068 a0001c0001t0062g0035 a0001c0002t0001g0076 a0001c0002t0001g0109 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0112 a0001c0002t0002g0132 a0001c0002t0003g0139 a0001c0002t0009g0102 a0001c0002t0028g0155 a0001c0002t0028g0156 a0001c0002t0048g0111 a0001c0002t0049g0069 a0001c0003t0001g0098 a0001c0003t0006g0100 a0001c0003t0006g0141 a0001c0003t0032g0013 a0001c0003t0050g0114 a0001c0004t0002g0124 a0001c0004t0041g0073 a0001c0005t0033g0083 a0001c0005t0033g0134 a0001c0006t0042g0084 a0001c0008t0001g0138 a0002c0009t0001g0110 a0004c0015t0002g0072 a0006c0018t0005g0136	58	230	0.2522	-24	c.395 others(43): Show c.395+34114_395+34137delAATCTTATCCCATTGTCTACATTA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20463448	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0023 a0001c0001t0078g0023	1	230	0.0044	-24	c.396 others(41): Show c.396-4283_396-4260delATATATATATATATATATATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20518569	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0177 a0001c0002t0007g0177	1	230	0.0044	-24	c.105 others(41): Show c.1059-811_1059-788delATATATATATATATATATTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168718677	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0011 a0001c0038t0011	a0001c0038t0011g0066 a0001c0038t0011g0066	1	132	0.0076	-24	c.248 others(43): Show c.2483+3555_2483+3578delGTGTGTGTGTGTGTGTGTGTGTGT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	23/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168875088	GAAAGAAG others(17): Show GAAAGAAGGGAGGAAGCGGGGGAGA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0006 a0001c0015t0006	a0001c0015t0006g0070 a0001c0015t0006g0070	1	132	0.0076	-24	c.485 others(41): Show c.485+8153_485+8176delTCTCCCCCGCTTCCTCCCTTCTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	5/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169189527	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0007 a0002c0011t0007	a0002c0011t0007g0116 a0002c0011t0007g0116	1	132	0.0076	-24	c.413 others(41): Show c.413+3928_413+3951delATATATATATATATATATATATAT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLMAP_chr3_57751309_57935003	57853955	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	310	0.0032	-24	c.520 others(41): Show c.520-3756_520-3733delATATATATATATATATATATATAT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLURP2_chr8_142759338_142774828	142762817	CTTCATTC others(17): Show CTTCATTCCTTTATGTGGCTGAATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	446	0.0022	-24	c.17 others(35): Show c.1764_*1787delTATTCAGCCACATAAAGGAATGAA	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		1520		chr8	TogoVar
SLX4IP_chr20_10430305_10633030	10518490	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18906.hp1 HG04184.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0036 a0001c0001t0003 a0001c0001t0036	a0001c0001t0003g0249 a0001c0001t0036g0144 a0001c0001t0003g0249 a0001c0001t0036g0144	2	266	0.0075	-24	c.28- others(41): Show c.28-37702_28-37679delCCTTCCTTCCTTCCTTCCTTCCTT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMAD2_chr18_47803957_47935659	47820894	TATACACA others(17): Show TATACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02486.hp1 HG01891.hp2 HG02145.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0252 a0001c0002t0253 a0001c0002t0254 a0001c0002t0252 a0001c0002t0253 a0001c0002t0254	a0001c0002t0252g0017 a0001c0002t0253g0015 a0001c0002t0254g0016 a0001c0002t0252g0017 a0001c0002t0253g0015 a0001c0002t0254g0016	3	310	0.0097	-24	c.20 others(37): Show c.20909_*20932delGTGTGTGTGTGTGTGTGTGTGTAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11	20909		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47820896	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0211 a0001c0001t0211	a0001c0001t0211g0008 a0001c0001t0211g0008	1	310	0.0032	-24	c.20 others(37): Show c.20907_*20930delGTGTGTGTGTGTGTGTGTGTGTGT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11	20907		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47885132	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0218 a0001c0001t0015g0218	1	310	0.0032	-24	c.236 others(43): Show c.236+11365_236+11388delGTGTGTGTGTGTGTGTGTGTGTGT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47919469	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp1 HG03516.hp2 others(2): Show HG02572.hp1 HG03139.hp1 HG03516.hp2 HG03927.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0247 a0001c0002t0248 a0001c0002t0249 others(2): Show a0001c0002t0247 a0001c0002t0248 a0001c0002t0249 a0001c0002t0250 a0001c0002t0251	a0001c0002t0247g0014 a0001c0002t0248g0303 a0001c0002t0249g0306 others(2): Show a0001c0002t0247g0014 a0001c0002t0248g0303 a0001c0002t0249g0306 a0001c0002t0250g0304 a0001c0002t0251g0305	5	310	0.0161	-24	c.-54 others(43): Show c.-54+10868_-54+10891delGTGTGTGTGTGTGTGTGTGTGTGT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	1/10			chr18	TogoVar
SMAD6_chr15_66697236_66787849	66721199	AACCCAAG others(17): Show AACCCAAGGTGGATCCACACTGCTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG02027.hp1 others(16): Show HG00423.hp2 HG00597.hp1 HG02027.hp1 NA18942.hp2 NA18944.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18968.hp1 NA18973.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp2 NA18998.hp1 NA19005.hp2 NA19066.hp2 NA19079.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0003 a0001c0016 a0003c0005 others(2): Show a0001c0003 a0001c0016 a0003c0005 a0004c0009 a0007c0011	a0001c0003t0007 a0001c0003t0009 a0001c0003t0033 others(4): Show a0001c0003t0007 a0001c0003t0009 a0001c0003t0033 a0001c0016t0032 a0003c0005t0007 a0004c0009t0009 a0007c0011t0007	a0001c0003t0007g0273 a0001c0003t0007g0276 a0001c0003t0007g0279 others(16): Show a0001c0003t0007g0273 a0001c0003t0007g0276 a0001c0003t0007g0279 a0001c0003t0007g0282 a0001c0003t0007g0283 a0001c0003t0007g0284 a0001c0003t0007g0289 a0001c0003t0007g0290 a0001c0003t0009g0281 a0001c0003t0009g0286 a0001c0003t0009g0287 a0001c0003t0009g0288 a0001c0003t0033g0280 a0001c0016t0032g0274 a0003c0005t0007g0264 a0003c0005t0007g0277 a0003c0005t0007g0278 a0004c0009t0009g0272 a0007c0011t0007g0285	19	336	0.0566	-24	c.952 others(41): Show c.952+4707_952+4730delAGGTGGATCCACACTGCTTACCCA	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD9_chr13_36839831_36925238	36905774	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18986.hp2 NA18947.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0019 a0001c0001t0018 a0001c0001t0019	a0001c0001t0018g0027 a0001c0001t0019g0048 a0001c0001t0018g0027 a0001c0001t0019g0048	2	358	0.0056	-24	c.-18 others(45): Show c.-187+14318_-187+14341delTTTTTTTTTTTTTTTTTTTTTTTT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMARCB1_chr22_23781966_23843009	23822957	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02074.hp1 HG02132.hp2 others(14): Show HG01109.hp1 HG02074.hp1 HG02132.hp2 HG02155.hp1 HG02486.hp2 HG02809.hp1 HG03516.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03942.hp1 NA18952.hp1 NA18962.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0002t0003 a0001c0005t0010	a0001c0001t0002g0111 a0001c0001t0003g0214 a0001c0001t0003g0216 others(14): Show a0001c0001t0002g0111 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0010g0016 a0001c0001t0010g0017 a0001c0001t0010g0019 a0001c0001t0010g0021 a0001c0001t0010g0023 a0001c0001t0010g0024 a0001c0001t0010g0025 a0001c0001t0010g0026 a0001c0001t0027g0215 a0001c0001t0029g0018 a0001c0001t0030g0022 a0001c0001t0034g0217 a0001c0002t0003g0183 a0001c0005t0010g0020	17	363	0.0468	-24	c.796 others(41): Show c.796-2250_796-2227delTTTTTTTTTTTTTTTTTTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47633773	TATATATA others(17): Show TATATATACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	219	0.0046	-24	c.264 others(43): Show c.2646+1393_2646+1416delGTGTGTGTGTGTGTGTGTATATAT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	24/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47633775	TATATACA others(17): Show TATATACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp1 HG01099.hp1 others(13): Show HG00639.hp2 HG00673.hp1 HG01099.hp1 HG01891.hp1 HG02027.hp2 HG02451.hp1 HG02572.hp2 HG02647.hp1 HG02698.hp1 HG02970.hp2 HG03540.hp1 NA18942.hp1 NA18970.hp2 NA18998.hp1 NA19030.hp2 NA19087.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0002 a0001c0002t0002 a0003c0008t0002 a0001c0001t0002 a0001c0002t0002 a0003c0008t0002	a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0108 others(13): Show a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0108 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0159 a0001c0001t0002g0169 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0002t0002g0105 a0001c0002t0002g0112 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0157 a0003c0008t0002g0086	16	219	0.0731	-24	c.264 others(43): Show c.2646+1391_2646+1414delGTGTGTGTGTGTGTGTGTGTATAT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	24/27			chr3	TogoVar
SMC4_chr3_160394650_160439953	160427937	GCACGCAC others(17): Show GCACGCACACACACAAACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG06807.hp1 others(2): Show HG01167.hp2 HG01169.hp1 HG06807.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0191 a0001c0001t0003g0015 a0001c0001t0003g0191	5	332	0.0151	-24	c.260 others(41): Show c.2606-810_2606-787delACACACACAAACACACACACACGC	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMC6_chr2_17658812_17758810	17739879	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp1 HG02559.hp2 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0144 a0002c0003t0001g0145	2	254	0.0079	-24	c.239 others(41): Show c.239-1577_239-1554delGTGTGTGTGTGTGTGTGTGTGTGT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	4/27			chr2	TogoVar
SMCO4_chr11_93473472_93548391	93514374	CTATATAT others(17): Show CTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	412	0.0024	-24	c.-15 others(45): Show c.-153-15050_-153-15027delTATATATATATATATATATATATA	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMCO4_chr11_93473472_93548391	93534213	TATACACA others(17): Show TATACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02040.hp2 NA19064.hp2 HG00099.hp1 HG02040.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0195 a0001c0001t0001g0291 a0001c0001t0002g0100 a0001c0001t0001g0195 a0001c0001t0001g0291 a0001c0001t0002g0100	3	412	0.0073	-24	c.-15 others(43): Show c.-154+9039_-154+9062delGTGTGTGTGTGTGTGTGTGTGTAT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMCO4_chr11_93473472_93548391	93534215	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03490.hp1 HG03704.hp2 others(2): Show HG02738.hp1 HG03490.hp1 HG03704.hp2 HG03834.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0005 a0001c0001t0001 a0001c0001t0002 a0001c0003t0005	a0001c0001t0001g0149 a0001c0001t0001g0301 a0001c0001t0001g0302 others(2): Show a0001c0001t0001g0149 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0002g0183 a0001c0003t0005g0285	5	412	0.0121	-24	c.-15 others(43): Show c.-154+9037_-154+9060delGTGTGTGTGTGTGTGTGTGTGTGT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMG8_chr17_59205035_59220230	59219059	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(161): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19089.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0007 a0003c0006 others(1): Show a0001c0001 a0001c0007 a0003c0006 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0003c0006t0001 a0006c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0002g0002 a0001c0007t0001g0002 a0003c0006t0001g0002 a0006c0013t0001g0002	164	394	0.4162	-24	c.40 others(35): Show c.4058_*4081delTTTTTTTTTTTTTTTTTTTTTTTT	SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding		3830		chr17	TogoVar
SMIM10L1_chr12_11166194_11181016	11168213	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0000 a0001c0002t0016g0000	1	397	0.0025	-24	c.-31 others(35): Show c.-3143_-3120delAAGAAAGAAAGAAAGAAAGAAAGA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2980		chr12	TogoVar
SMIM10L1_chr12_11166194_11181016	11168279	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03209.hp2 HG02976.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	2	397	0.0050	-24	c.-30 others(35): Show c.-3077_-3054delGAAAGAAAGAAAGAAAGAAAGAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2914		chr12	TogoVar
SMIM10L1_chr12_11166194_11181016	11168283	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01358.hp1 HG00642.hp1 HG01074.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0001g0000 a0001c0001t0009g0000	3	397	0.0076	-24	c.-30 others(35): Show c.-3073_-3050delGAAAGAAAGAAAGAAAGAAGGAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2910		chr12	TogoVar
SMIM10L1_chr12_11166194_11181016	11168368	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00673.hp2 others(29): Show HG00423.hp1 HG00609.hp1 HG00673.hp2 HG01123.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02148.hp1 HG02602.hp1 HG02738.hp1 HG03195.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18967.hp2 NA18987.hp1 NA18990.hp2 NA18998.hp2 NA19004.hp2 NA19057.hp1 NA19085.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0026 a0001c0001t0030 others(5): Show a0001c0001t0001 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0002t0016 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0000 a0001c0001t0026g0000 a0001c0001t0030g0000 others(5): Show a0001c0001t0001g0000 a0001c0001t0026g0000 a0001c0001t0030g0000 a0001c0001t0032g0000 a0001c0001t0034g0000 a0001c0002t0016g0000 a0001c0003t0001g0000 a0001c0004t0001g0000	32	397	0.0806	-24	c.-29 others(35): Show c.-2988_-2965delAAAGAAAGAAAGAAAGAAAGAAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2825		chr12	TogoVar
SMIM10_chrX_134985991_134997473	134986686	TCTTTCTT others(17): Show TCTTTCTTTCTTTCTTTCTTTTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0000 a0001c0001t0008g0000	1	322	0.0031	-24	c.-44 others(35): Show c.-4409_-4386delCTTTCTTTCTTTCTTTCTTTTTTC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4304		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986690	TCTTTCTT others(17): Show TCTTTCTTTCTTTCTTTTTTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG03239.hp1 NA18945.hp1 others(1): Show HG00438.hp1 HG03239.hp1 NA18945.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	322	0.0124	-24	c.-44 others(35): Show c.-4405_-4382delCTTTCTTTCTTTCTTTTTTCTTCC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4300		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986694	TCTTTCTT others(17): Show TCTTTCTTTCTTTTTTCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01928.hp1 HG02165.hp2 others(2): Show HG01884.hp1 HG01928.hp1 HG02165.hp2 HG03654.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0006g0000 a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0006g0000	5	322	0.0155	-24	c.-44 others(35): Show c.-4401_-4378delCTTTCTTTCTTTTTTCTTCCTTCC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4296		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986698	TCTTTCTT others(17): Show TCTTTCTTTTTTCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01981.hp2 HG02818.hp2 others(1): Show HG01433.hp1 HG01981.hp2 HG02818.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0001g0000 a0001c0001t0003g0000	4	322	0.0124	-24	c.-43 others(35): Show c.-4397_-4374delCTTTCTTTTTTCTTCCTTCCTTCC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4292		chrX	TogoVar

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