Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC9C1_chr3_112135898_112299216	112150809	TAAATACA others(22): Show TAAATACATATACATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG03098.hp1 others(2): Show HG02109.hp2 HG02647.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp1	a0004 a0010 a0004 a0010	a0004c0011 a0010c0014 a0004c0011 a0010c0014	a0004c0011t0003 a0010c0014t0003 a0004c0011t0003 a0010c0014t0003	a0004c0011t0003g0047 a0004c0011t0003g0048 a0004c0011t0003g0049 others(2): Show a0004c0011t0003g0047 a0004c0011t0003g0048 a0004c0011t0003g0049 a0004c0011t0003g0050 a0010c0014t0003g0023	5	369	0.0136	-29	c.352 others(48): Show c.3524+1019_3524+1047delTATATATATATATATATGTATATGTA TTT	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	28/28			chr3	TogoVar
SLCO1A2_chr12_21259600_21339917	21270808	ATATTAGC others(22): Show ATATTAGCTTTTTCATCCTTAATGATGTTT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0148 a0001c0001t0030g0148	1	308	0.0032	-29	c.179 others(48): Show c.1794-1070_1794-1042delAAACATCATTAAGGATGAAAAAGCTA ATA	SLCO1A2	ENSG00000084453.17	transcript	ENST00000683939.1	protein_coding	14/14			chr12	TogoVar
SLCO1C1_chr12_20690332_20758386	20717645	CTTCTTTT others(22): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0252 a0001c0004t0001g0252	1	293	0.0034	-29	c.775 others(44): Show c.775+418_775+446delCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO1C1_chr12_20690332_20758386	20717648	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp1 HG03490.hp2 others(2): Show HG01175.hp2 HG01496.hp1 HG03490.hp2 HG03492.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0215 a0001c0002t0002g0004 a0001c0002t0002g0239 others(1): Show a0001c0001t0003g0215 a0001c0002t0002g0004 a0001c0002t0002g0239 a0001c0002t0002g0240	5	67	0.0746	-29	c.775 others(44): Show c.775+434_775+462delTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO3A1_chr15_91848708_92170903	92016225	ATAGATAG others(22): Show ATAGATAGATAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG01071.hp2 others(24): Show HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01168.hp2 HG01496.hp1 HG01884.hp2 HG02040.hp1 HG02040.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp2 HG03942.hp2 HG06807.hp2 NA18939.hp1 NA18946.hp1 NA18980.hp1 NA18986.hp1 NA19064.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0005 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0026 a0001c0002t0040 a0001c0004t0004 a0001c0007t0002 a0002c0005t0043 a0005c0012t0004	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0104 others(24): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0104 a0001c0001t0001g0143 a0001c0001t0002g0075 a0001c0001t0002g0138 a0001c0001t0002g0146 a0001c0001t0005g0060 a0001c0001t0009g0170 a0001c0001t0010g0019 a0001c0001t0010g0064 a0001c0001t0012g0007 a0001c0001t0012g0043 a0001c0001t0013g0032 a0001c0001t0013g0033 a0001c0001t0020g0124 a0001c0001t0021g0139 a0001c0001t0024g0025 a0001c0001t0028g0011 a0001c0002t0001g0096 a0001c0002t0002g0145 a0001c0002t0026g0140 a0001c0002t0040g0036 a0001c0004t0004g0094 a0001c0007t0002g0148 a0002c0005t0043g0184 a0005c0012t0004g0153	27	188	0.1436	-29	c.647 others(48): Show c.647-78626_647-78598delTAGATAGATAGATAGATAGATAGATA GAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92047043	TATATATA others(22): Show TATATATATAATATATAAATATATATACAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0105 a0001c0001t0037g0105	1	178	0.0056	-29	c.647 others(48): Show c.647-47799_647-47771delATATATAAATATATATACAAATATAT ATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92047225	AATATATA others(22): Show AATATATATATAATATATAAATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19240.hp2 HG02965.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0052 a0001c0001t0012 a0001c0001t0052	a0001c0001t0012g0007 a0001c0001t0052g0189 a0001c0001t0012g0007 a0001c0001t0052g0189	2	180	0.0111	-29	c.647 others(48): Show c.647-47625_647-47597delTATATATATAATATATAAATATATAT ACA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO5A1_chr8_69662046_69839978	69762117	GTTTTCTT others(22): Show GTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	G G	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	270	0.0037	-29	c.908 others(44): Show c.908-271_908-243delGAAAGAAAGAAAGAAAGAAAGAAAGAAAA	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLCO5A1_chr8_69662046_69839978	69762170	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0152 a0001c0001t0060g0152	1	278	0.0036	-29	c.908 others(44): Show c.908-324_908-296delAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLF1_chr5_94613669_94702621	94629567	GAAGCAAT others(22): Show GAAGCAATGGTCATACTATTTTATTTTTCT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp1 HG02055.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0190 a0001c0001t0016g0285 a0001c0001t0016g0190 a0001c0001t0016g0285	2	362	0.0055	-29	c.190 others(44): Show c.190+404_190+432delCAATGGTCATACTATTTTATTTTTCTAAG	SLF1	ENSG00000133302.13	transcript	ENST00000265140.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLF1_chr5_94613669_94702621	94671536	ATTTTGGT others(22): Show ATTTTGGTTGCATAATAAATATTAGTCACC	A A	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0284 a0002c0002t0002g0284	1	362	0.0028	-29	c.182 others(46): Show c.1827+533_1827+561delGGTTGCATAATAAATATTAGTCACCTTT T	SLF1	ENSG00000133302.13	transcript	ENST00000265140.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLFN12L_chr17_35459254_35542678	35530414	GAAGGAAG others(22): Show GAAGGAAGGAAGGAAGGGAAGGGAAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03225.hp1 HG04199.hp1 HG01123.hp1 HG03225.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0016 a0001c0002t0083 a0001c0001t0008 a0001c0001t0016 a0001c0002t0083	a0001c0001t0008g0102 a0001c0001t0016g0165 a0001c0002t0083g0043 a0001c0001t0008g0102 a0001c0001t0016g0165 a0001c0002t0083g0043	3	356	0.0084	-29	c.-60 others(48): Show c.-606+7130_-606+7158delTTCCCTTCCCTTCCCTTCCTTCCTTC CTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35530422	GAAGGAAG others(22): Show GAAGGAAGGGAAGGGAAGGGAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0050 a0007c0009t0050	a0007c0009t0050g0039 a0007c0009t0050g0039	1	356	0.0028	-29	c.-60 others(48): Show c.-606+7122_-606+7150delTTTCTTTCTTCCCTTCCCTTCCCTTC CTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35539335	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0149 a0005c0006t0149	a0005c0006t0149g0091 a0005c0006t0149g0091	1	353	0.0028	-29	c.-23 others(40): Show c.-2397_-2369delCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding		1658		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35539335	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0103 a0002c0002t0002g0103	1	421	0.0024	-29	c.88 others(40): Show c.8875_*8903delCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		4649		chr17	TogoVar
SLIT2_chr4_20246905_20625561	20291478	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19082.hp2 NA18998.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0045 a0001c0001t0005 a0001c0002t0045	a0001c0001t0005g0058 a0001c0002t0045g0006 a0001c0001t0005g0058 a0001c0002t0045g0006	2	217	0.0092	-29	c.395 others(48): Show c.395+22599_395+22627delATATATATATATATTTTTTTTTTTTT TTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20291480	ATATATAT others(22): Show ATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	221	0.0045	-29	c.395 others(48): Show c.395+22601_395+22629delATATATATATATTTTTTTTTTTTTTT TTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20291482	ATATATAT others(22): Show ATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp2 HG02717.hp2 HG02976.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0017 a0001c0002 a0005c0017	a0001c0002t0016 a0005c0017t0001 a0001c0002t0016 a0005c0017t0001	a0001c0002t0016g0126 a0005c0017t0001g0040 a0001c0002t0016g0126 a0005c0017t0001g0040	2	213	0.0094	-29	c.395 others(48): Show c.395+22603_395+22631delATATATATATTTTTTTTTTTTTTTTT TTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20388893	TATATATA others(22): Show TATATATAATATATACATATAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	226	0.0044	-29	c.396 others(48): Show c.396-78842_396-78814delTATAATATATATAATATATAATATAT ACA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20516326	ATATGTAT others(22): Show ATATGTATATTGTACACATATAATAGTACG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19043.hp1 HG02970.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0058 a0001c0001t0007 a0001c0001t0058	a0001c0001t0007g0165 a0001c0001t0058g0008 a0001c0001t0007g0165 a0001c0001t0058g0008	2	228	0.0088	-29	c.105 others(48): Show c.1059-3046_1059-3018delTGTACACATATAATAGTACGTATGTA TAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168907925	TTATATAT others(22): Show TTATATATATATTATACGTGTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02027.hp2 HG02071.hp1 others(5): Show HG01496.hp2 HG02027.hp2 HG02071.hp1 HG03017.hp1 HG03017.hp2 NA18957.hp1 NA18989.hp2 NA19060.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0006 a0001c0007 others(4): Show a0001c0001 a0001c0006 a0001c0007 a0001c0014 a0001c0059 a0002c0060 a0008c0035	a0001c0001t0001 a0001c0001t0024 a0001c0006t0002 others(5): Show a0001c0001t0001 a0001c0001t0024 a0001c0006t0002 a0001c0007t0014 a0001c0014t0009 a0001c0059t0004 a0002c0060t0001 a0008c0035t0004	a0001c0001t0001g0018 a0001c0001t0024g0069 a0001c0006t0002g0039 others(5): Show a0001c0001t0001g0018 a0001c0001t0024g0069 a0001c0006t0002g0039 a0001c0007t0014g0055 a0001c0014t0009g0121 a0001c0059t0004g0027 a0002c0060t0001g0058 a0008c0035t0004g0049	8	99	0.0808	-29	c.414 others(48): Show c.414-24618_414-24590delTATATATATACACGTATAATATATAT ATA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLITRK2_chrX_145812829_145834856	145814932	ATTTGTTC others(22): Show ATTTGTTCTGTGGCACTCTTCTTTGAAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0047 a0003c0009t0002g0047	1	324	0.0031	-29	c.-38 others(40): Show c.-3886_-3858delTTTGTTCTGTGGCACTCTTCTTTGAAACC	SLITRK2	ENSG00000185985.11	transcript	ENST00000335565.6	protein_coding		2896		chrX	TogoVar
SLITRK5_chr13_87666371_87684616	87679800	GTATATAG others(22): Show GTATATAGTATATATATAGTATATAGTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	400	0.0025	-29	c.15 others(40): Show c.1536_*1564delTATATAGTATATATATAGTATATAGTATA	SLITRK5	ENSG00000165300.8	transcript	ENST00000683689.1	protein_coding		185		chr13	TogoVar
SLMAP_chr3_57751309_57935003	57853956	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	259	0.0039	-29	c.520 others(46): Show c.520-3776_520-3748delATATATATATATATATATATATATATAT A	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	6/24			chr3	TogoVar
SLURP1_chr8_142735949_142747406	142746431	CAAACTGG others(22): Show CAAACTGGCTTATGGCACTGCTCTTCCCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	-29	c.-40 others(40): Show c.-4075_-4047delCTGGGAAGAGCAGTGCCATAAGCCAGTTT	SLURP1	ENSG00000126233.2	transcript	ENST00000246515.2	protein_coding		4026		chr8	TogoVar
SMAD1_chr4_145476853_145564176	145555678	TTACACTA others(22): Show TTACACTAATAAAAGGTATTTATAATGCAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0238 a0001c0001t0003g0129 a0001c0001t0003g0238	2	306	0.0065	-29	c.125 others(48): Show c.1254+1639_1254+1667delTACACTAATAAAAGGTATTTATAATG CAA	SMAD1	ENSG00000170365.10	transcript	ENST00000302085.9	protein_coding	6/6			chr4	TogoVar
SMAD2_chr18_47803957_47935659	47850187	TTATATAT others(22): Show TTATATATAGTATATATATATTATTATATA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0242 a0001c0001t0242	a0001c0001t0242g0006 a0001c0001t0242g0006	1	308	0.0032	-29	c.784 others(46): Show c.784+1058_784+1086delTATATAATAATATATATATACTATATAT A	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAP2_chr1_40368727_40428322	40424384	GACAGTAT others(22): Show GACAGTATAAGACAAGGGGAGAGAGTGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	398	0.0025	-29	c.22 others(40): Show c.2284_*2312delACAGTATAAGACAAGGGGAGAGAGTGGGC	SMAP2	ENSG00000084070.12	transcript	ENST00000372718.8	protein_coding		1063		chr1	TogoVar
SMARCB1_chr22_23781966_23843009	23787353	ATCGGGGC others(22): Show ATCGGGGCGGGCGGGCGCGCGCGCGCGCGC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01433.hp1 HG02055.hp2 others(15): Show HG01255.hp2 HG01433.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp2 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0023 others(2): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025	a0001c0001t0005g0337 a0001c0001t0009g0320 a0001c0001t0009g0321 others(15): Show a0001c0001t0005g0337 a0001c0001t0009g0320 a0001c0001t0009g0321 a0001c0001t0009g0322 a0001c0001t0009g0323 a0001c0001t0009g0324 a0001c0001t0009g0325 a0001c0001t0009g0326 a0001c0001t0009g0329 a0001c0001t0009g0330 a0001c0001t0009g0332 a0001c0001t0009g0335 a0001c0001t0009g0336 a0001c0001t0023g0327 a0001c0001t0024g0328 a0001c0001t0024g0331 a0001c0001t0025g0333 a0001c0001t0025g0334	18	362	0.0497	-29	c.93+ others(41): Show c.93+99_93+127delGGGCGGGCGCGCGCGCGCGCGCTCGGGGC	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM10L1_chr12_11166194_11181016	11168359	AAAAGAAA others(22): Show AAAAGAAAGAAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	-29	c.-29 others(40): Show c.-2997_-2969delAAAGAAAGAAAAGAAAGAAAGAAAGAAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2834		chr12	TogoVar
SMIM36_chr17_55444856_55516452	55501404	TTATATAT others(22): Show TTATATATTATAAAATATAATATATTATTA	T T	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	336	0.0030	-29	c.17 others(48): Show c.174+9446_*174+9474delTAATAATATATTATATTTTATAATAT ATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501410	ATTATAAA others(22): Show ATTATAAAATATAATATATTATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00639.hp2 others(38): Show HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00738.hp1 HG01074.hp2 HG01243.hp2 HG01516.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02056.hp1 HG02132.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03540.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18957.hp1 NA18969.hp2 NA18981.hp1 NA18990.hp2 NA18995.hp1 NA19062.hp2 NA19068.hp2 NA19079.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(33): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0005g0068 a0001c0001t0007g0046 a0003c0004t0001g0029	41	338	0.1213	-29	c.17 others(48): Show c.174+9440_*174+9468delAATATATAATAATATATTATATTTTA TAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM39_chr2_131030092_131040262	131038431	CGCCCAGC others(22): Show CGCCCAGCCTCTCCCTCCTGCAGCCTTGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	339	0.0029	-29	c.31 others(40): Show c.3170_*3198delGCCCAGCCTCTCCCTCCTGCAGCCTTGCA	SMIM39	ENSG00000284479.3	transcript	ENST00000711663.1	protein_coding		3170		chr2	TogoVar
SMIM39_chr2_131030092_131040262	131039540	CTGAGGGC others(22): Show CTGAGGGCCGTCCGGCGGGGAGGTCCCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	346	0.0029	-29	c.42 others(40): Show c.4279_*4307delTGAGGGCCGTCCGGCGGGGAGGTCCCAGG	SMIM39	ENSG00000284479.3	transcript	ENST00000711663.1	protein_coding		4279		chr2	TogoVar
SMIM7_chr19_16641148_16665144	16650119	GTAAAACC others(22): Show GTAAAACCTCTCCATGGTTCATTTTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	357	0.0028	-29	c.213 others(46): Show c.213-2887_213-2859delGGGAGAAAATGAACCATGGAGAGGTTTT A	SMIM7	ENSG00000214046.9	transcript	ENST00000487416.7	protein_coding	4/4			chr19	TogoVar
SMYD1_chr2_88062825_88118384	88065225	CCTCCCCT others(22): Show CCTCCCCTCCCCTCCCCCCTCCCCTCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	336	0.0030	-29	c.-26 others(40): Show c.-2639_-2611delCTCCCCTCCCCTCCCCCCTCCCCTCCCCT	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2599		chr2	TogoVar
SND1_chr7_127647194_128097593	127979521	ACAGGTGA others(22): Show ACAGGTGACTCTGGATGAATAAGAACAGAG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0250 a0001c0002t0001g0250	1	260	0.0038	-29	c.167 others(50): Show c.1670-11417_1670-11389delTCTGGATGAATAAGAACAGAGCAG GTGAC	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNED1_chr2_240993618_241100568	241036009	AGTGGGGG others(22): Show AGTGGGGGGTGGAGGTGCGTCACGGGGTGG	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0056 a0005c0007t0001g0056	1	342	0.0029	-29	c.806 others(44): Show c.806-758_806-730delGGGGTGGGTGGGGGGTGGAGGTGCGTCAC	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTB2_chr16_69182164_69314052	69292378	ATTATATA others(22): Show ATTATATATATATTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	214	0.0047	-29	c.134 others(48): Show c.1346-7210_1346-7182delTATATATATATTATATATATATATAT ATT	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTB2_chr16_69182164_69314052	69292406	ATTATATA others(22): Show ATTATATATATATTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03704.hp2 HG02273.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0123 a0001c0001t0001g0001 a0001c0001t0001g0123	2	183	0.0109	-29	c.134 others(48): Show c.1346-7182_1346-7154delTATATATATATTATATATATATATAT ATT	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTG1_chr8_49906407_50801692	50259511	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp1 HG02698.hp2 others(2): Show HG02622.hp1 HG02647.hp1 HG02698.hp2 HG03942.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0006 a0001c0002t0010 others(2): Show a0001c0001t0011 a0001c0002t0006 a0001c0002t0010 a0001c0002t0036 a0001c0002t0038	a0001c0001t0011g0099 a0001c0002t0006g0065 a0001c0002t0010g0028 others(2): Show a0001c0001t0011g0099 a0001c0002t0006g0065 a0001c0002t0010g0028 a0001c0002t0036g0016 a0001c0002t0038g0069	5	103	0.0485	-29	c.-28 others(48): Show c.-28+86877_-28+86905delGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18			chr8	TogoVar
SNTG2_chr2_945849_1372613	981472	CACACATG others(22): Show CACACATGCACATGAGTGCACATGTGTCCT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0149 a0004c0004t0001g0149	1	188	0.0053	-29	c.72+ others(46): Show c.72+30414_72+30442delCATGAGTGCACATGTGTCCTACACATGC A	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842532	AAGAAAAC others(22): Show AAGAAAACGAGCGAGGGAGAGAGCGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	243	0.0041	-29	c.-53 others(38): Show c.-536_-508delGCTCTCGCTCTCTCCCTCGCTCGTTTTCT	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		348		chr8	TogoVar
SNX18_chr5_54512759_54551586	54512804	GCCTTCCT others(22): Show GCCTTCCTTCCTTCTTTCCTTCCTTCCTTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00738.hp2 HG01243.hp1 others(44): Show HG00544.hp2 HG00738.hp2 HG01243.hp1 HG01261.hp2 HG01433.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02132.hp1 HG02155.hp2 HG02273.hp2 HG03486.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18945.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19088.hp2 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0012 a0001c0002 a0001c0006 a0001c0012	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0022 a0001c0002t0039 a0001c0002t0043 a0001c0002t0044 a0001c0006t0001 a0001c0012t0002	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0015 others(27): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0015 a0001c0002t0001g0029 a0001c0002t0001g0047 a0001c0002t0001g0144 a0001c0002t0001g0148 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0164 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0002g0156 a0001c0002t0008g0002 a0001c0002t0008g0004 a0001c0002t0008g0015 a0001c0002t0008g0146 a0001c0002t0022g0187 a0001c0002t0022g0189 a0001c0002t0039g0002 a0001c0002t0043g0002 a0001c0002t0044g0158 a0001c0006t0001g0011 a0001c0012t0002g0001	47	381	0.1234	-29	c.-51 others(40): Show c.-5148_-5120delCCTTCCTTCCTTCTTTCCTTCCTTCCTTC	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4954		chr5	TogoVar
SNX1_chr15_64090982_64149231	64141023	AGATGATA others(22): Show AGATGATAGATATAGATAGATAGATAGATT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 HG06807.hp2 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0015 a0001c0001t0027g0096 a0001c0001t0027g0015 a0001c0001t0027g0096	2	256	0.0078	-29	c.34 others(40): Show c.3409_*3437delGATAGATATAGATAGATAGATAGATTGAT	SNX1	ENSG00000028528.15	transcript	ENST00000559844.6	protein_coding	15/15	3409	INFO_REALIGN_3_PRIME	chr15	TogoVar
SNX27_chr1_151607050_151704080	151676270	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02622.hp2 HG02717.hp2 others(2): Show HG02155.hp2 HG02622.hp2 HG02717.hp2 HG02922.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0053 a0001c0001t0082 others(1): Show a0001c0001t0005 a0001c0001t0053 a0001c0001t0082 a0001c0004t0015	a0001c0001t0005g0074 a0001c0001t0053g0349 a0001c0001t0082g0091 others(2): Show a0001c0001t0005g0074 a0001c0001t0053g0349 a0001c0001t0082g0091 a0001c0004t0015g0348 a0001c0004t0015g0355	5	6	0.8333	-29	c.115 others(48): Show c.1150-7061_1150-7033delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12454805	TGCCTCCC others(22): Show TGCCTCCCAGGTTCAGGCACTTCTGCCTCA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0025 a0001c0001t0017g0025	1	174	0.0057	-29	c.203 others(50): Show c.2038-22877_2038-22849delAGGTTCAGGCACTTCTGCCTCAGC CTCCC	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12575840	GTTTTTTT others(22): Show GTTTTTTTGTTTTTTTTGTTTTTGTTTTTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA19240.hp2 NA18950.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0040 a0001c0006t0066 a0001c0001t0040 a0001c0006t0066	a0001c0001t0040g0015 a0001c0006t0066g0004 a0001c0001t0040g0015 a0001c0006t0066g0004	2	165	0.0121	-29	c.72 others(40): Show c.7212_*7240delTTTTTTTGTTTTTTTTGTTTTTGTTTTTA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding		1554		chr16	TogoVar
SNX8_chr7_2246770_2319441	2278754	AGCCGGAC others(22): Show AGCCGGACTCACTCACACTACGGAGTCGAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	362	0.0028	-29	c.95- others(42): Show c.95-478_95-450delGTCGACTCCGTAGTGTGAGTGAGTCCGGC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SNX8_chr7_2246770_2319441	2279123	CGCCGGAC others(22): Show CGCCGGACTCACTCACACTACGGAGTCGAA	C C	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0108 a0001c0001t0007g0108	1	368	0.0027	-29	c.95- others(42): Show c.95-847_95-819delTTCGACTCCGTAGTGTGAGTGAGTCCGGC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar

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