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
SMIM14_chr4_39541336_39643865	39576680	ATATATTT others(19): Show ATATATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0090 a0001c0001t0016g0090	1	344	0.0029	-26	c.76- others(41): Show c.76-4243_76-4218delAAAAAAAAAAAAAAAAAAAAAATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM17_chr19_56638159_56662247	56647370	TGGGGTTG others(19): Show TGGGGTTGTGTGTTTGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0079 a0001c0001t0006g0079	1	418	0.0024	-26	c.170 others(41): Show c.170-186_170-161delGGGTTGTGTGTTTGTGTGTGTGTGAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMIM17_chr19_56638159_56662247	56651639	GTGAGAAG others(19): Show GTGAGAAGTTGGGGTAGTGGTTACCTT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0154 a0001c0001t0011g0154	1	418	0.0024	-26	c.247 others(43): Show c.247-3459_247-3434delAAGTTGGGGTAGTGGTTACCTTTGAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMIM19_chr8_42536585_42560195	42552404	GGAGACTC others(19): Show GGAGACTCTATCTCTGAAACAAACAGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG01081.hp2 others(27): Show HG00544.hp2 HG00558.hp2 HG01081.hp2 HG01099.hp1 HG01192.hp2 HG01891.hp1 HG01928.hp2 HG01981.hp2 HG02040.hp1 HG02148.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03195.hp2 HG03225.hp2 HG03490.hp1 HG03834.hp2 HG04184.hp1 NA18522.hp1 NA18979.hp2 NA18998.hp1 NA19009.hp1 NA19030.hp1 NA19067.hp1 NA19081.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0032	a0001c0001t0004g0005 a0001c0001t0004g0033 a0001c0001t0004g0077 others(8): Show a0001c0001t0004g0005 a0001c0001t0004g0033 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0007g0011 a0001c0001t0007g0082 a0001c0001t0014g0018 a0001c0001t0032g0011	30	384	0.0781	-26	c.260 others(41): Show c.260-139_260-114delGAGACTCTATCTCTGAAACAAACAGA	SMIM19	ENSG00000176209.12	transcript	ENST00000417410.7	protein_coding	3/3			chr8	TogoVar
SMIM35_chr11_117998634_118091963	118067860	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG02717.hp2 others(6): Show HG01891.hp2 HG02630.hp1 HG02717.hp2 HG03139.hp1 HG03209.hp1 HG03516.hp1 NA18522.hp2 NA18944.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0002c0002t0007 a0003c0003t0013	a0001c0001t0001g0179 a0001c0001t0003g0166 a0001c0001t0003g0168 others(6): Show a0001c0001t0001g0179 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0018g0170 a0002c0002t0007g0167 a0003c0003t0013g0165 a0003c0003t0013g0169	9	408	0.0221	-26	c.7+1 others(41): Show c.7+18865_7+18890delATATATATATATATATATATATATAT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM46_chr19_14107324_14117476	14109959	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	368	0.0027	-26	c.23 others(37): Show c.2339_*2364delATATATATATATATATATATTTTTTT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2364		chr19	TogoVar
SMN1_chr5_70920087_70958015	70939824	TCAATAGT others(19): Show TCAATAGTCCAGACTACCTTGAGCAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	36	0.0278	-26	c.153 others(41): Show c.153+943_153+968delATAGTCCAGACTACCTTGAGCAAACA	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMOC1_chr14_69874416_70037366	69878699	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	270	0.0037	-26	c.-97 others(35): Show c.-979_-954delTGTGTGTGTGTGTGTGTGTGTGTGTG	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding		716		chr14	TogoVar
SMOC1_chr14_69874416_70037366	69924804	GGAGCTAG others(19): Show GGAGCTAGGGGAGGTAAAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	270	0.0037	-26	c.100 others(45): Show c.100-27330_100-27305delCTAGGGGAGGTAAAGGAGGAGGAGAG	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168614632	GGCCTCTT others(19): Show GGCCTCTTCACACCTACAGCCAGCACA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp2 HG02922.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0114 a0001c0005t0001g0126 a0001c0001t0001g0114 a0001c0005t0001g0126	2	180	0.0111	-26	c.907 others(43): Show c.907+6395_907+6420delCCTCTTCACACCTACAGCCAGCACAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168615282	ATGGGGCC others(19): Show ATGGGGCCTCTTCACACCTACAGCCAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0069 a0001c0002t0005g0069	1	180	0.0056	-26	c.907 others(43): Show c.907+7044_907+7069delTGGGGCCTCTTCACACCTACAGCCAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12			chr6	TogoVar
SMPX_chrX_21700978_21763116	21728214	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp1 HG01891.hp1 others(13): Show HG01070.hp1 HG01109.hp1 HG01891.hp1 HG02132.hp1 HG02258.hp1 HG02630.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03540.hp2 HG03710.hp1 HG03831.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0033 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0099 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150	16	289	0.0554	-26	c.14 others(43): Show c.14+9309_*14+9334delGAGAGAGAGAGAGAGAGAGAGAGAGA	SMPX	ENSG00000091482.8	transcript	ENST00000379494.4	protein_coding	4/4			chrX	TogoVar
SMTNL2_chr17_4579529_4613319	4589938	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00438.hp1 others(43): Show HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00642.hp2 HG01168.hp1 HG01192.hp1 HG01255.hp1 HG01943.hp1 HG02109.hp1 HG02165.hp2 HG02630.hp2 HG02698.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18960.hp1 NA18963.hp2 NA18966.hp1 NA18975.hp2 NA18983.hp2 NA18987.hp1 NA18995.hp1 NA18997.hp1 NA19004.hp2 NA19077.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0012 a0001c0002 a0001c0007 a0001c0012	a0001c0002t0001 a0001c0002t0002 a0001c0007t0002 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0007t0002 a0001c0012t0001	a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0026 others(36): Show a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0257 a0001c0002t0002g0059 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0073 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0094 a0001c0007t0002g0027 a0001c0012t0001g0060 a0001c0012t0001g0064 a0001c0012t0001g0065 a0001c0012t0001g0066	46	442	0.1041	-26	c.400 others(43): Show c.400-2402_400-2377delTTTTTTTTTTTTTTTTTTTTTTTTTT	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMUG1_chr12_54175366_54193985	54185487	AATAAATA others(19): Show AATAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00733.hp1 others(48): Show HG00280.hp2 HG00323.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01516.hp2 HG01928.hp1 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02083.hp1 HG02083.hp2 HG02258.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02965.hp1 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp1 NA18943.hp1 NA18947.hp2 NA18991.hp2 NA18992.hp2 NA19066.hp1 NA19077.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0027	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0035 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0175 a0001c0001t0001g0205 a0001c0001t0003g0117 a0001c0001t0004g0010 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0158 a0001c0001t0004g0160 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0203 a0001c0001t0007g0091 a0001c0001t0027g0180	51	438	0.1164	-26	c.-19 others(43): Show c.-19-1554_-19-1529delATTTATTTATTTATTTATTTATTTAT	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	2/3			chr12	TogoVar
SMURF1_chr7_99022440_99149108	99063237	TTATTTAT others(19): Show TTATTTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0117 a0001c0003t0005g0117	1	264	0.0038	-26	c.56- others(41): Show c.56-1426_56-1401delTATATATATATATATATATATAAATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99063241	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0247 a0001c0001t0010g0247	1	264	0.0038	-26	c.56- others(41): Show c.56-1430_56-1405delTATATATATATATATATATATATATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99119003	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	264	0.0038	-26	c.55+ others(43): Show c.55+24697_55+24722delAAAAAAAAAAAAAAAAAAAAAAAAAA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD2_chr1_214276159_214342131	214293011	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 NA19043.hp2 others(1): Show HG02257.hp2 HG02451.hp1 NA19043.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0003 a0001c0001t0001 a0004c0004t0003	a0001c0001t0001g0071 a0004c0004t0003g0023 a0004c0004t0003g0025 others(1): Show a0001c0001t0001g0071 a0004c0004t0003g0023 a0004c0004t0003g0025 a0004c0004t0003g0026	4	380	0.0105	-26	c.173 others(45): Show c.173+11616_173+11641delGTGTGTGTGTGTGTGTGTGTGTGTGT	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245813860	CTATATAT others(19): Show CTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00735.hp1 others(23): Show HG00423.hp2 HG00544.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02071.hp2 HG02258.hp2 HG02451.hp1 HG02615.hp2 HG02895.hp1 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03831.hp2 HG04115.hp1 NA18522.hp2 NA18971.hp1 NA19057.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0012 others(3): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0012t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0011 a0001c0001t0001g0038 a0001c0001t0001g0044 others(23): Show a0001c0001t0001g0011 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0093 a0001c0001t0002g0017 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0002g0081 a0001c0001t0002g0092 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0002g0010 a0001c0002t0002g0084 a0001c0012t0002g0074 a0002c0003t0001g0111 a0002c0003t0002g0114 a0002c0003t0002g0150 a0002c0004t0001g0098 a0002c0005t0001g0142 a0002c0005t0002g0115	26	150	0.1733	-26	c.107 others(47): Show c.1076+44610_1076+44635delTATATATATATATATATATATATA TA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245993577	AAAAGATA others(19): Show AAAAGATAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0037 a0001c0002t0002g0037	1	150	0.0067	-26	c.532 others(45): Show c.532-63666_532-63641delATCTATCTATCTATCTATCTATCTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246116201	GACACACA others(19): Show GACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG02486.hp2 others(4): Show HG00741.hp2 HG01243.hp2 HG02486.hp2 HG02886.hp2 HG03195.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0004 others(2): Show a0001c0001 a0002c0003 a0002c0004 a0002c0016 a0003c0010	a0001c0001t0001 a0002c0003t0002 a0002c0004t0001 others(2): Show a0001c0001t0001 a0002c0003t0002 a0002c0004t0001 a0002c0016t0001 a0003c0010t0001	a0001c0001t0001g0003 a0002c0003t0002g0145 a0002c0003t0002g0147 others(4): Show a0001c0001t0001g0003 a0002c0003t0002g0145 a0002c0003t0002g0147 a0002c0004t0001g0119 a0002c0004t0001g0126 a0002c0016t0001g0097 a0003c0010t0001g0031	7	150	0.0467	-26	c.532 others(47): Show c.532-186290_532-186265delGTGTGTGTGTGTGTGTGTGTGTGT GT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246299881	GGGTACTA others(19): Show GGGTACTAGGCTGAAAAATGACTACTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(65): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01243.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02717.hp1 HG02965.hp2 HG03017.hp1 HG03130.hp1 HG03225.hp2 HG03491.hp1 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18971.hp2 NA18984.hp1 NA18984.hp2 NA19000.hp1 NA19000.hp2 NA19057.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0016 a0002c0017 a0004c0013 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0011t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0016t0001 a0002c0017t0001 a0004c0013t0002 a0005c0015t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0038 others(65): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0052 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0062 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0002g0010 a0001c0002t0002g0037 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0006t0001g0035 a0001c0011t0002g0049 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0148 a0002c0003t0002g0104 a0002c0003t0002g0114 a0002c0003t0002g0131 a0002c0003t0002g0150 a0002c0004t0001g0098 a0002c0004t0001g0121 a0002c0005t0001g0138 a0002c0007t0001g0120 a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0016t0001g0097 a0002c0017t0001g0122 a0004c0013t0002g0072 a0005c0015t0002g0094	68	150	0.4533	-26	c.531 others(45): Show c.531+27294_531+27319delTAGTAGTCATTTTTCAGCCTAGTACC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246299893	GAAAAATG others(19): Show GAAAAATGACTACTAGGTACTAGGCTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG01981.hp2 others(27): Show HG01109.hp2 HG01175.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03579.hp2 NA18962.hp2 NA18965.hp2 NA18971.hp1 NA19030.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(5): Show a0001c0001 a0001c0002 a0001c0009 a0001c0012 a0001c0014 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 a0001c0012t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0019 others(27): Show a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0060 a0001c0002t0001g0012 a0001c0002t0002g0078 a0001c0009t0001g0002 a0001c0012t0002g0074 a0001c0014t0002g0091 a0002c0003t0001g0096 a0002c0003t0001g0105 a0002c0003t0001g0111 a0002c0003t0001g0137 a0002c0003t0001g0141 a0002c0003t0002g0095 a0002c0003t0002g0102 a0002c0003t0002g0110 a0002c0004t0001g0119 a0002c0004t0001g0129 a0002c0004t0001g0140 a0002c0004t0001g0149 a0002c0004t0002g0139 a0002c0005t0001g0142 a0002c0005t0002g0106 a0002c0005t0002g0118	30	150	0.2000	-26	c.531 others(45): Show c.531+27282_531+27307delAAGCCTAGTACCTAGTAGTCATTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246395698	ATGGCTGG others(19): Show ATGGCTGGACAGGGAAGACGAACACAC	A A	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	150	0.0067	-26	c.165 others(45): Show c.165-40630_165-40605delGTGTGTTCGTCTTCCCTGTCCAGCCA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246395721	ACACCAGT others(19): Show ACACCAGTCAGACAGGGAAGACGAACC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02257.hp1 HG02451.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0123 a0002c0007t0001g0132 a0002c0007t0001g0123 a0002c0007t0001g0132	2	150	0.0133	-26	c.165 others(45): Show c.165-40653_165-40628delGGTTCGTCTTCCCTGTCTGACTGGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNAP91_chr6_83547885_83714101	83610722	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0309 a0001c0002t0001g0309	1	366	0.0027	-26	c.885 others(39): Show c.885-71_885-46delTTATATATATATATATATATATATAT	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	11/29			chr6	TogoVar
SNAPC4_chr9_136370571_136405170	136373567	ACACCAGG others(19): Show ACACCAGGAGCCTGGGCCGCGGAGCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	380	0.0026	-26	c.22 others(37): Show c.2215_*2240delAGGCTCCGCGGCCCAGGCTCCTGGTG	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		2003		chr9	TogoVar
SND1_chr7_127647194_128097593	127953151	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01496.hp1 others(10): Show HG01099.hp2 HG01106.hp2 HG01496.hp1 HG01943.hp2 HG02559.hp2 HG02735.hp2 HG03041.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2 NA18985.hp2 NA18998.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0112 a0001c0001t0001g0144 a0001c0001t0001g0146 others(10): Show a0001c0001t0001g0112 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0260 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0003g0102 a0001c0001t0003g0103	13	262	0.0496	-26	c.166 others(47): Show c.1669+23867_1669+23892delGTGTGTGTGTGTGTGTGTGTGTGT GT	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNRK_chr3_43281540_43356143	43339818	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA19004.hp2 HG00280.hp1 NA19004.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0002 a0003c0010t0002 a0001c0001t0002 a0003c0010t0002	a0001c0001t0002g0086 a0003c0010t0002g0016 a0001c0001t0002g0086 a0003c0010t0002g0016	2	258	0.0078	-26	c.732 others(41): Show c.732-438_732-413delATATATATATATATATATATATATAT	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRNP25_chr16_48828_62669	52446	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp2 NA18970.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	424	0.0047	-26	c.-15 others(37): Show c.-1570_-1545delAAAAAAAAAAAAAAAAAAAAAAAAAA	SNRNP25	ENSG00000161981.11	transcript	ENST00000293861.8	protein_coding		1381		chr16	TogoVar
SNRPD1_chr18_21607314_21638520	21610219	TTACCAGG others(19): Show TTACCAGGTTAAAAGAAAAAGTATACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0221 a0001c0001t0010g0221	1	358	0.0028	-26	c.-22 others(37): Show c.-2210_-2185delTACCAGGTTAAAAGAAAAAGTATACA	SNRPD1	ENSG00000167088.11	transcript	ENST00000300413.10	protein_coding		2094		chr18	TogoVar
SNTB1_chr8_120530756_120817046	120561313	CCATCTCA others(19): Show CCATCTCAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0250 a0001c0002t0018g0250	1	254	0.0039	-26	c.113 others(47): Show c.1137-12381_1137-12356delTTTTTTTTTTTTTTTTTTTTGAGA TG	SNTB1	ENSG00000172164.15	transcript	ENST00000517992.2	protein_coding	4/6			chr8	TogoVar
SNTB2_chr16_69182164_69314052	69292364	ATATATAT others(19): Show ATATATATATATATATTATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG02615.hp2 HG01081.hp1 HG01243.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0178 a0001c0001t0002g0091 a0001c0001t0002g0139 a0001c0001t0001g0178 a0001c0001t0002g0091 a0001c0001t0002g0139	3	218	0.0138	-26	c.134 others(45): Show c.1346-7210_1346-7185delTATATATATATTATATATATATATAT	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTB2_chr16_69182164_69314052	69292392	ATATATAT others(19): Show ATATATATATATATATTATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG02602.hp2 others(8): Show HG00408.hp2 HG00544.hp2 HG02602.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03927.hp1 NA18747.hp1 NA18948.hp1 NA18951.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0044 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0044 a0001c0001t0045	a0001c0001t0002g0127 a0001c0001t0007g0151 a0001c0001t0007g0153 others(8): Show a0001c0001t0002g0127 a0001c0001t0007g0151 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0007g0197 a0001c0001t0044g0159 a0001c0001t0045g0216	11	218	0.0505	-26	c.134 others(45): Show c.1346-7182_1346-7157delTATATATATATTATATATATATATAT	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTG1_chr8_49906407_50801692	50259510	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02895.hp1 others(3): Show HG01884.hp1 HG02109.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0006 a0001c0001t0020 a0001c0001t0023 others(2): Show a0001c0001t0006 a0001c0001t0020 a0001c0001t0023 a0001c0001t0027 a0002c0003t0018	a0001c0001t0006g0051 a0001c0001t0006g0066 a0001c0001t0020g0043 others(3): Show a0001c0001t0006g0051 a0001c0001t0006g0066 a0001c0001t0020g0043 a0001c0001t0023g0002 a0001c0001t0027g0070 a0002c0003t0018g0045	6	106	0.0566	-26	c.-28 others(45): Show c.-28+86877_-28+86902delGAAAGAAAGAAAGAAAGAAAGAAAGA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50734800	TATATATA others(19): Show TATATATAGATATCTATATATATGGAC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20300.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0037 a0001c0001t0017 a0001c0001t0037	a0001c0001t0017g0057 a0001c0001t0037g0034 a0001c0001t0017g0057 a0001c0001t0037g0034	2	106	0.0189	-26	c.128 others(47): Show c.1285-17193_1285-17168delGATATCTATATATATGGACATATA TA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNX11_chr17_48102766_48128601	48119535	TCTGCCTC others(19): Show TCTGCCTCCTGGGTTCAAGCGATTCTC	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	416	0.0024	-26	c.539 others(41): Show c.539+357_539+382delCTGGGTTCAAGCGATTCTCCTGCCTC	SNX11	ENSG00000002919.15	transcript	ENST00000359238.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
SNX13_chr7_17785761_17945494	17801009	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0256 a0001c0002t0001g0256	1	338	0.0030	-26	c.229 others(43): Show c.2298+553_2298+578delATATATATATATATATATATATATAT	SNX13	ENSG00000071189.21	transcript	ENST00000428135.7	protein_coding	22/25			chr7	TogoVar
SNX15_chr11_65022439_65045572	65029799	ACTCCTGA others(19): Show ACTCCTGACCTCAAGTTATCCTCCCAC	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0076 a0002c0003t0003g0076	1	338	0.0030	-26	c.99+ others(41): Show c.99+2167_99+2192delCTGACCTCAAGTTATCCTCCCACCTC	SNX15	ENSG00000110025.13	transcript	ENST00000377244.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
SNX16_chr8_81794583_81847185	81842468	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	306	0.0033	-26	c.-46 others(35): Show c.-469_-444delCTCTCTCTCTCTCTCTCTCTCTCTCT	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		284		chr8	TogoVar
SNX27_chr1_151607050_151704080	151676270	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02895.hp2 HG03098.hp1 others(4): Show HG02886.hp1 HG02895.hp2 HG03098.hp1 HG03225.hp1 NA18997.hp1 NA19043.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0010 a0001c0001t0039 a0001c0001t0102 others(2): Show a0001c0001t0010 a0001c0001t0039 a0001c0001t0102 a0001c0003t0061 a0003c0005t0018	a0001c0001t0010g0280 a0001c0001t0039g0005 a0001c0001t0102g0341 others(3): Show a0001c0001t0010g0280 a0001c0001t0039g0005 a0001c0001t0102g0341 a0001c0003t0061g0096 a0001c0003t0061g0097 a0003c0005t0018g0325	7	366	0.0191	-26	c.115 others(45): Show c.1150-7058_1150-7033delTTTTTTTTTTTTTTTTTTTTTTTTTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12476377	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	176	0.0057	-26	c.203 others(45): Show c.2038-1340_2038-1315delAAAAAATATATATATATATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12575843	TTTTTGTT others(19): Show TTTTTGTTTTTTTTGTTTTTGTTTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG01081.hp1 others(10): Show HG00438.hp2 HG00738.hp1 HG01081.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02886.hp2 HG03579.hp2 HG03710.hp2 HG06807.hp2 NA19070.hp1 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0018 a0001c0022 a0006c0017	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(10): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0017 a0001c0001t0028 a0001c0001t0036 a0001c0001t0059 a0001c0003t0002 a0001c0003t0060 a0001c0007t0064 a0001c0018t0007 a0001c0022t0049 a0006c0017t0002	a0001c0001t0002g0020 a0001c0001t0007g0175 a0001c0001t0012g0009 others(10): Show a0001c0001t0002g0020 a0001c0001t0007g0175 a0001c0001t0012g0009 a0001c0001t0017g0025 a0001c0001t0028g0122 a0001c0001t0036g0030 a0001c0001t0059g0040 a0001c0003t0002g0097 a0001c0003t0060g0093 a0001c0007t0064g0113 a0001c0018t0007g0057 a0001c0022t0049g0061 a0006c0017t0002g0024	13	176	0.0739	-26	c.72 others(37): Show c.7215_*7240delTTTTGTTTTTTTTGTTTTTGTTTTTA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding		1557		chr16	TogoVar
SNX31_chr8_100567889_100654665	100581311	TTATATAT others(19): Show TTATATATCTATATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp2 HG01884.hp2 HG02965.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0005 a0006c0006t0002 a0002c0002t0005 a0006c0006t0002	a0002c0002t0005g0038 a0006c0006t0002g0037 a0002c0002t0005g0038 a0006c0006t0002g0037	2	304	0.0066	-26	c.117 others(45): Show c.1170+2774_1170+2799delGATAGATAGATAGATATAGATATATA	SNX31	ENSG00000174226.9	transcript	ENST00000311812.7	protein_coding	12/13			chr8	TogoVar
SNX6_chr14_34556093_34635148	34559014	CACACACA others(19): Show CACACACACACACACACACACACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02895.hp1 HG02897.hp1 others(3): Show HG02257.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 others(3): Show a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045	6	322	0.0186	-26	c.40 others(37): Show c.4082_*4107delATGTGTGTGTGTGTGTGTGTGTGTGT	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		2078		chr14	TogoVar
SNX7_chr1_98656721_98765500	98663252	GGTTTTTT others(19): Show GGTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18977.hp1 HG02132.hp1 NA18977.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0021 a0002c0003t0001g0022	2	378	0.0053	-26	c.180 others(43): Show c.180+1342_180+1367delGTTTTTTTTTTTTTTTTTTTTTTTTT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding	1/8			chr1	TogoVar
SNX8_chr7_2246770_2319441	2317251	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02155.hp1 NA18964.hp2 HG00673.hp2 HG02155.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0119 a0001c0001t0009g0108 a0001c0001t0009g0111 a0001c0001t0001g0119 a0001c0001t0009g0108 a0001c0001t0009g0111	3	370	0.0081	-26	c.-28 others(37): Show c.-2856_-2831delAAAAAAAAAAAAAAAAAAAAAAAAAA	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding		2811		chr7	TogoVar
SOAT1_chr1_179288797_179363680	179344352	GGTTTTTT others(19): Show GGTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA19043.hp2 NA18978.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0054 a0001c0002t0024 a0001c0001t0054 a0001c0002t0024	a0001c0001t0054g0069 a0001c0002t0024g0244 a0001c0001t0054g0069 a0001c0002t0024g0244	2	382	0.0052	-26	c.988 others(41): Show c.988-594_988-569delGTTTTTTTTTTTTTTTTTTTTTTTTT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	10/15			chr1	TogoVar
SOAT1_chr1_179288797_179363680	179348760	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(134): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG03017.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp2 NA19082.hp2 NA19088.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0015 a0002c0003 a0006c0019 a0008c0021	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(23): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0028 a0001c0001t0032 a0001c0001t0036 a0001c0001t0054 a0001c0001t0059 a0001c0002t0001 a0001c0002t0023 a0001c0002t0024 a0001c0002t0039 a0001c0002t0043 a0001c0002t0044 a0001c0002t0047 a0001c0002t0051 a0001c0005t0007 a0001c0005t0015 a0001c0005t0058 a0001c0006t0004 a0001c0006t0031 a0001c0006t0076 a0001c0015t0050 a0002c0003t0002 a0006c0019t0007 a0008c0021t0004	a0001c0001t0002g0312 a0001c0001t0002g0327 a0001c0001t0004g0005 others(132): Show a0001c0001t0002g0312 a0001c0001t0002g0327 a0001c0001t0004g0005 a0001c0001t0004g0026 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0050 a0001c0001t0004g0090 a0001c0001t0004g0101 a0001c0001t0004g0104 a0001c0001t0004g0115 a0001c0001t0004g0264 a0001c0001t0004g0272 a0001c0001t0013g0319 a0001c0001t0013g0321 a0001c0001t0028g0283 a0001c0001t0032g0331 a0001c0001t0032g0332 a0001c0001t0036g0359 a0001c0001t0036g0360 a0001c0001t0054g0069 a0001c0001t0059g0320 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0197 a0001c0002t0001g0200 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0229 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0248 a0001c0002t0001g0253 a0001c0002t0001g0367 a0001c0002t0001g0368 a0001c0002t0001g0369 a0001c0002t0001g0370 a0001c0002t0023g0199 a0001c0002t0024g0239 a0001c0002t0024g0244 a0001c0002t0039g0196 a0001c0002t0043g0150 a0001c0002t0044g0201 a0001c0002t0047g0195 a0001c0002t0051g0205 a0001c0005t0007g0008 a0001c0005t0007g0335 a0001c0005t0007g0344 a0001c0005t0007g0346 a0001c0005t0007g0347 a0001c0005t0007g0349 a0001c0005t0007g0350 a0001c0005t0007g0352 a0001c0005t0007g0354 a0001c0005t0007g0355 a0001c0005t0007g0357 a0001c0005t0015g0130 a0001c0005t0015g0131 a0001c0005t0015g0132 a0001c0005t0015g0137 a0001c0005t0058g0135 a0001c0006t0004g0006 a0001c0006t0004g0255 a0001c0006t0004g0260 a0001c0006t0004g0262 a0001c0006t0004g0263 a0001c0006t0004g0306 a0001c0006t0004g0309 a0001c0006t0031g0261 a0001c0006t0031g0307 a0001c0006t0076g0308 a0001c0015t0050g0233 a0002c0003t0002g0341 a0006c0019t0007g0345 a0008c0021t0004g0005	137	382	0.3586	-26	c.121 others(41): Show c.1216-54_1216-29delGTGTGTGTGTGTGTGTGTGTGTGTGT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOBP_chr6_107485117_107666306	107656344	AGAAAGAA others(19): Show AGAAAGAAAGAAAGAAAGAAAGAAAGT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01074.hp1 HG01081.hp2 others(38): Show HG00673.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01358.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG02004.hp1 HG02015.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG03098.hp1 HG03471.hp1 HG03688.hp1 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA18948.hp1 NA18962.hp1 NA18967.hp1 NA18982.hp2 NA18993.hp1 NA19000.hp2 NA19004.hp2 NA19057.hp2 NA19060.hp2 NA19075.hp2 NA19090.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0005 a0001c0001 a0001c0007 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0030 a0001c0001t0052 a0001c0001t0054 a0001c0007t0002 a0005c0005t0002	a0001c0001t0001g0110 a0001c0001t0001g0229 a0001c0001t0002g0001 others(38): Show a0001c0001t0001g0110 a0001c0001t0001g0229 a0001c0001t0002g0001 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0285 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0059 a0001c0001t0003g0108 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0211 a0001c0001t0003g0224 a0001c0001t0003g0264 a0001c0001t0003g0279 a0001c0001t0005g0116 a0001c0001t0005g0223 a0001c0001t0005g0262 a0001c0001t0007g0204 a0001c0001t0008g0198 a0001c0001t0008g0199 a0001c0001t0008g0206 a0001c0001t0008g0208 a0001c0001t0010g0268 a0001c0001t0013g0002 a0001c0001t0013g0196 a0001c0001t0014g0057 a0001c0001t0019g0194 a0001c0001t0021g0117 a0001c0001t0023g0276 a0001c0001t0023g0282 a0001c0001t0030g0075 a0001c0001t0052g0141 a0001c0001t0054g0085 a0001c0007t0002g0024 a0005c0005t0002g0005	41	296	0.1385	-26	c.4- others(41): Show c.4-1862_*4-1837delGAAAGAAAGAAAGAAAGAAAGAAAGT	SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	6/6			chr6	TogoVar

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