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
SASH1_chr6_148337838_148557044	148421146	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02738.hp1 NA18970.hp2 HG01169.hp2 HG02738.hp1 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0031 a0002c0002 a0002c0010 a0002c0031	a0002c0002t0003 a0002c0010t0003 a0002c0031t0004 a0002c0002t0003 a0002c0010t0003 a0002c0031t0004	a0002c0002t0003g0099 a0002c0010t0003g0049 a0002c0031t0004g0287 a0002c0002t0003g0099 a0002c0010t0003g0049 a0002c0031t0004g0287	3	322	0.0093	20	c.286 others(39): Show c.286-19035_286-19034insGAAGGAAGAAAGAAAGAAAG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421146	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02040.hp2 HG02148.hp2 others(3): Show HG00323.hp1 HG02040.hp2 HG02148.hp2 HG03516.hp2 HG03654.hp2 NA19004.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0003c0018	a0001c0001t0002 a0001c0009t0004 a0002c0002t0002 others(3): Show a0001c0001t0002 a0001c0009t0004 a0002c0002t0002 a0002c0002t0004 a0002c0002t0018 a0003c0018t0004	a0001c0001t0002g0021 a0001c0009t0004g0227 a0002c0002t0002g0141 others(3): Show a0001c0001t0002g0021 a0001c0009t0004g0227 a0002c0002t0002g0141 a0002c0002t0004g0226 a0002c0002t0018g0120 a0003c0018t0004g0067	6	322	0.0186	20	c.286 others(39): Show c.286-19035_286-19034insGAAGGAAGGAAGAAAGAAAG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148446102	T T	TTTTTTTT others(13): Show TTTTTTTTTTTCTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18993.hp2 NA19003.hp2 others(2): Show HG03831.hp2 NA18993.hp2 NA19003.hp2 NA19004.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0003 a0002c0005t0006	a0001c0001t0001g0166 a0001c0003t0002g0241 a0002c0002t0001g0055 others(2): Show a0001c0001t0001g0166 a0001c0003t0002g0241 a0002c0002t0001g0055 a0002c0002t0003g0041 a0002c0005t0006g0213	5	322	0.0155	20	c.386 others(37): Show c.386+5705_386+5706insCTTTTTTTTCTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148446103	T T	TTTTTTTT others(13): Show TTTTTTTTTTTCTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03688.hp2 HG00741.hp1 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0005t0002 a0002c0002t0002 a0002c0005t0002	a0002c0002t0002g0140 a0002c0005t0002g0111 a0002c0002t0002g0140 a0002c0005t0002g0111	2	322	0.0062	20	c.386 others(37): Show c.386+5706_386+5707insCTTTTTTTTCTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148448115	A A	AGAGTGTG others(13): Show AGAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG06807.hp1 NA18947.hp2 others(1): Show HG00609.hp2 HG06807.hp1 NA18947.hp2 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 a0001c0001t0001 a0001c0001t0005 a0002c0002t0002	a0001c0001t0001g0030 a0001c0001t0005g0307 a0002c0002t0002g0039 others(1): Show a0001c0001t0001g0030 a0001c0001t0005g0307 a0002c0002t0002g0039 a0002c0002t0002g0253	4	322	0.0124	20	c.386 others(37): Show c.386+7709_386+7710insAGTGTGTGTGTGTGTGTGTG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0146 a0001c0001t0002g0149 a0002c0002t0001g0305 a0001c0001t0002g0146 a0001c0001t0002g0149 a0002c0002t0001g0305	3	322	0.0093	20	c.386 others(37): Show c.386+8686_386+8687insTTTTTTTTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148512004	C C	CATTTATT others(13): Show CATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0087 a0001c0003t0014g0087	1	322	0.0031	20	c.730 others(37): Show c.730-2311_730-2292dupATTTATTTATTTATTTATTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789105	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02135.hp1 HG02257.hp2 others(16): Show HG02109.hp1 HG02135.hp1 HG02257.hp2 HG02523.hp2 HG02572.hp1 HG02698.hp1 HG02886.hp2 HG03491.hp1 NA18942.hp2 NA18975.hp1 NA18985.hp1 NA18999.hp1 NA19002.hp2 NA19012.hp1 NA19075.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0019	a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0069 others(14): Show a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0176 a0001c0001t0002g0010 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0073 a0001c0001t0002g0150 a0001c0001t0006g0010 a0001c0001t0006g0084 a0001c0001t0006g0092 a0001c0001t0006g0115 a0001c0001t0016g0024 a0001c0001t0019g0053	19	307	0.0619	20	c.300 others(35): Show c.300+531_300+532insGAAAGAAAGAAAGAAAGAAA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SASH3_chrX_129774949_129800201	129789109	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00738.hp1 others(6): Show HG00140.hp1 HG00609.hp1 HG00738.hp1 HG01099.hp1 HG01433.hp1 HG03041.hp2 HG04184.hp1 NA18949.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0006 a0001c0001t0001g0075 a0001c0001t0001g0127 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0075 a0001c0001t0001g0127 a0001c0001t0003g0006 a0001c0001t0004g0107	9	307	0.0293	20	c.300 others(35): Show c.300+570_300+589dupAAGAAAGAAAGAAAGAAAGA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SASH3_chrX_129774949_129800201	129789163	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	307	0.0033	20	c.300 others(35): Show c.300+589_300+590insAAGAAAGAAAGAAAGAGAGA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SAT2_chr17_7621234_7632821	7629375	C C	CTAAAATA others(13): Show CTAAAATAAAATAAAATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	432	0.0023	20	c.-17 others(31): Show c.-1760_-1741dupTTTTATTTTATTTTATTTTA	SAT2	ENSG00000141504.12	transcript	ENST00000269298.10	protein_coding		1555		chr17	TogoVar
SATB1_chr3_18340377_18430339	18344358	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG04199.hp2 HG03579.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0020 a0001c0001t0008 a0001c0001t0020	a0001c0001t0008g0263 a0001c0001t0020g0001 a0001c0001t0008g0263 a0001c0001t0020g0001	2	352	0.0057	20	c.47 others(31): Show c.4792_*4811dupAAAAAAAAAAAAAAAAAAAA	SATB1	ENSG00000182568.18	transcript	ENST00000338745.11	protein_coding		1018		chr3	TogoVar
SATB2_chr2_199264505_199462939	199323476	T T	TATATACA others(13): Show TATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	254	0.0039	20	c.154 others(37): Show c.1542+326_1542+327insGTGTGTGTGTGTGTGTATAT	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	9/10			chr2	TogoVar
SATL1_chrX_85087284_85248779	85118087	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01099.hp1 HG01168.hp2 others(18): Show HG00438.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG02056.hp1 HG02129.hp1 HG02698.hp1 HG03017.hp1 HG03139.hp1 HG03540.hp2 HG04115.hp1 NA18612.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18966.hp1 NA18970.hp1 NA19085.hp1 NA20805.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0007 a0009c0010 a0001c0001 a0001c0007 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0009c0010t0001	a0001c0001t0001g0080 a0001c0001t0001g0141 a0001c0001t0001g0146 others(18): Show a0001c0001t0001g0080 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0223 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0007t0001g0196 a0009c0010t0001g0151	21	232	0.0905	20	c.-31 others(39): Show c.-312-8808_-312-8807insAAAAAAAAAAAAAAAAAAAA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBF2_chr11_9773668_10299219	9913643	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02148.hp1 HG03516.hp1 others(6): Show HG01975.hp2 HG02148.hp1 HG03516.hp1 HG04115.hp2 NA18939.hp1 NA18944.hp2 NA18951.hp2 NA19066.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0003 a0001c0003t0004 a0002c0002t0004 others(1): Show a0001c0001t0003 a0001c0003t0004 a0002c0002t0004 a0003c0004t0003	a0001c0001t0003g0041 a0001c0003t0004g0205 a0002c0002t0004g0020 others(6): Show a0001c0001t0003g0041 a0001c0003t0004g0205 a0002c0002t0004g0020 a0003c0004t0003g0009 a0003c0004t0003g0011 a0003c0004t0003g0022 a0003c0004t0003g0026 a0003c0004t0003g0032 a0003c0004t0003g0132	9	224	0.0402	20	c.186 others(41): Show c.1861-17652_1861-17633dupATTTTATTTTATTTTATTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	16/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9942901	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	224	0.0045	20	c.186 others(41): Show c.1860+19036_1860+19055dupTTCTTTCTTTCTTTCTTTCT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	16/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9967947	G G	GTCTGTCT others(13): Show GTCTGTCTGTCTGTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0204 a0001c0005t0001g0204	1	224	0.0045	20	c.160 others(37): Show c.1600+393_1600+394insGAGAGAGACAGACAGACAGA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	14/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9994577	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	224	0.0045	20	c.976 others(35): Show c.976-580_976-579insATATATATATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	9/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10063858	C C	CACACACA others(13): Show CACACACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	224	0.0045	20	c.142 others(39): Show c.142-20878_142-20877insCTCTCTCTCTCTCTGTGTGT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10063858	C C	CACACAGA others(13): Show CACACAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02148.hp1 NA19068.hp2 HG01981.hp2 HG02148.hp1 NA19068.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0011 a0003c0004t0003g0028 a0003c0004t0003g0052 a0003c0004t0003g0011 a0003c0004t0003g0028 a0003c0004t0003g0052	3	224	0.0134	20	c.142 others(39): Show c.142-20878_142-20877insCTCTCTCTCTCTCTCTGTGT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10063858	C C	CACAGAGA others(13): Show CACAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	224	0.0045	20	c.142 others(39): Show c.142-20878_142-20877insCTCTCTCTCTCTCTCTCTGT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10063858	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	224	0.0045	20	c.142 others(39): Show c.142-20897_142-20878dupCTCTCTCTCTCTCTCTCTCT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10098639	A A	ACAATATA others(13): Show ACAATATATCAATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG03139.hp1 others(4): Show HG02109.hp2 HG02486.hp2 HG03139.hp1 HG03225.hp1 HG04115.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 a0001c0001 a0001c0003 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0004 a0001c0012t0005	a0001c0001t0002g0190 a0001c0001t0003g0174 a0001c0001t0003g0175 others(4): Show a0001c0001t0002g0190 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0189 a0001c0001t0005g0192 a0001c0003t0004g0205 a0001c0012t0005g0194	7	224	0.0313	20	c.142 others(39): Show c.142-55659_142-55658insATATATATATTGATATATTG	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10166961	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG01975.hp2 others(14): Show HG00558.hp1 HG00673.hp2 HG01975.hp2 HG01981.hp2 HG02135.hp1 HG02148.hp1 HG03704.hp1 NA18948.hp2 NA18951.hp2 NA18969.hp2 NA18973.hp1 NA18986.hp2 NA18995.hp1 NA18999.hp1 NA19005.hp1 NA19012.hp1 NA19064.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0002c0002t0003 a0002c0002t0004 a0003c0004t0003	a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0039 others(14): Show a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0034 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0012g0001 a0002c0002t0003g0036 a0002c0002t0004g0010 a0003c0004t0003g0009 a0003c0004t0003g0011 a0003c0004t0003g0026 a0003c0004t0003g0028	17	224	0.0759	20	c.141 others(39): Show c.141+26921_141+26940dupTGTGTGTGTGTGTGTGTGTG	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10211014	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20752.hp1 HG02922.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0214 a0001c0001t0007g0212 a0001c0001t0004g0214 a0001c0001t0007g0212	2	224	0.0089	20	c.56- others(37): Show c.56-17047_56-17028dupTTTTTTTTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10254900	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03834.hp2 HG00280.hp1 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0075 a0002c0002t0001g0048 a0001c0001t0002g0075 a0002c0002t0001g0048	2	224	0.0089	20	c.55+ others(37): Show c.55+39095_55+39114dupTTTTTTTTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK2_chr19_55523611_55542133	55530702	A A	AGTGTGGC others(13): Show AGTGTGGCCTAGGGTGACCCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0200 a0001c0001t0004g0200	1	434	0.0023	20	c.457 others(35): Show c.457-380_457-379insGGGGTCACCCTAGGCCACAC	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	3/3			chr19	TogoVar
SBK3_chr19_55535656_55550543	55542813	G G	GATCCATC others(13): Show GATCCATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	438	0.0023	20	c.399 others(37): Show c.399+1267_399+1286dupGGATGGATGGATGGATGGAT	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding	3/3			chr19	TogoVar
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01891.hp1 HG01943.hp1 others(2): Show HG00621.hp2 HG01891.hp1 HG01943.hp1 HG03139.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0015 a0001c0001 a0001c0005 a0001c0015	a0001c0001t0001 a0001c0001t0053 a0001c0005t0012 others(2): Show a0001c0001t0001 a0001c0001t0053 a0001c0005t0012 a0001c0005t0016 a0001c0015t0051	a0001c0001t0001g0181 a0001c0001t0053g0177 a0001c0005t0012g0110 others(2): Show a0001c0001t0001g0181 a0001c0001t0053g0177 a0001c0005t0012g0110 a0001c0005t0016g0098 a0001c0015t0051g0128	5	260	0.0192	20	c.403 others(37): Show c.4039+558_4039+577dupTTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123297422	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0189 a0001c0001t0055g0189	1	260	0.0039	20	c.403 others(37): Show c.4039+555_4039+556insATTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123299681	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0092 a0001c0002t0092	a0001c0002t0092g0226 a0001c0002t0092g0226	1	260	0.0039	20	c.384 others(39): Show c.3846-1511_3846-1510insTTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	30/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123307020	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18993.hp1 NA19000.hp1 others(1): Show HG02080.hp1 NA18993.hp1 NA19000.hp1 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0022 a0001c0002t0093 a0001c0002t0003 a0001c0002t0022 a0001c0002t0093	a0001c0002t0003g0246 a0001c0002t0003g0249 a0001c0002t0022g0230 others(1): Show a0001c0002t0003g0246 a0001c0002t0003g0249 a0001c0002t0022g0230 a0001c0002t0093g0245	4	260	0.0154	20	c.363 others(39): Show c.3630+2270_3630+2289dupTTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	28/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123361931	G G	GAGTTTGA others(13): Show GAGTTTGAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0259 a0001c0002t0003g0259	1	260	0.0039	20	c.-1+ others(35): Show c.-1+2750_-1+2769dupGGCCAGGCTGGTCTCAAACT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	1/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1164929	G G	GGCACAGG others(13): Show GGCACAGGAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	203	0.0049	20	c.-12 others(39): Show c.-127+9223_-127+9242dupTCCTCCTCCTCCTCCTGTGC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBSN_chr19_35518367_35533311	35520352	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG00735.hp1 others(33): Show HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG03209.hp2 HG03239.hp2 HG03540.hp1 HG03654.hp1 HG03710.hp1 HG03927.hp1 HG04199.hp1 NA18942.hp1 NA19080.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0019	a0001c0002 a0002c0001 a0003c0004 others(3): Show a0001c0002 a0002c0001 a0003c0004 a0003c0030 a0004c0019 a0019c0031	a0001c0002t0001 a0002c0001t0001 a0003c0004t0001 others(3): Show a0001c0002t0001 a0002c0001t0001 a0003c0004t0001 a0003c0030t0001 a0004c0019t0001 a0019c0031t0001	a0001c0002t0001g0005 a0002c0001t0001g0001 a0002c0001t0001g0068 others(9): Show a0001c0002t0001g0005 a0002c0001t0001g0001 a0002c0001t0001g0068 a0003c0004t0001g0003 a0003c0004t0001g0029 a0003c0004t0001g0057 a0003c0004t0001g0058 a0003c0004t0001g0061 a0003c0004t0001g0064 a0003c0030t0001g0059 a0004c0019t0001g0037 a0019c0031t0001g0065	36	450	0.0800	20	c.31 others(31): Show c.3157_*3158insGAGAGAGAGAGAGAGAGAGA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3014		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(13): Show CTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA19001.hp2 NA18984.hp2 NA19001.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0012 a0001c0003t0001g0006 a0001c0003t0001g0012	2	450	0.0044	20	c.31 others(31): Show c.3153_*3154insTATATATATATATATATATA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03540.hp2 HG02622.hp2 HG03540.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0003 a0003c0004t0001g0003	2	450	0.0044	20	c.31 others(31): Show c.3153_*3154insTATATAGAGAGAGAGAGAGA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 NA18943.hp1 NA19091.hp1 HG02451.hp1 NA18943.hp1 NA19091.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0003 a0003c0004t0001g0003	3	450	0.0067	20	c.31 others(31): Show c.3153_*3154insTATAGAGAGAGAGAGAGAGA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01070.hp2 HG01071.hp2 others(14): Show HG00673.hp2 HG01070.hp2 HG01071.hp2 HG01975.hp2 HG02055.hp2 HG02735.hp2 HG02976.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp2 NA18955.hp2 NA18973.hp2 NA18978.hp2 NA18997.hp1 NA19002.hp2 NA19084.hp1 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0001 a0003c0004t0001 a0002c0001t0001 a0003c0004t0001	a0002c0001t0001g0001 a0003c0004t0001g0003 a0003c0004t0001g0063 a0002c0001t0001g0001 a0003c0004t0001g0003 a0003c0004t0001g0063	17	450	0.0378	20	c.31 others(31): Show c.3153_*3154insTAGAGAGAGAGAGAGAGAGA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520373	T T	TATATATA others(13): Show TATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	450	0.0022	20	c.31 others(31): Show c.3136_*3137insGTATATATATATATATATAT	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		2993		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(13): Show TACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 NA19010.hp2 HG03098.hp1 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0118 a0002c0001t0001g0101 a0001c0002t0001g0118 a0002c0001t0001g0101	2	382	0.0052	20	c.15 others(31): Show c.1585_*1586insACACACACACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(13): Show TACACACACACACATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	1	382	0.0026	20	c.15 others(31): Show c.1585_*1586insACACACACACACATATACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF8_chr6_154728416_154839221	154784120	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	282	0.0036	20	c.160 others(37): Show c.160-3722_160-3703dupATATATATATATATATATAT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154784155	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	282	0.0036	20	c.160 others(37): Show c.160-3703_160-3702insATATATATATATATATTTAT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154796389	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01358.hp2 HG01361.hp1 others(11): Show HG00642.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02135.hp2 HG02300.hp2 HG03130.hp1 HG03516.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0086 others(11): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0170 a0001c0001t0001g0190 a0001c0001t0001g0246 a0001c0001t0002g0078 a0001c0001t0002g0281 a0001c0001t0003g0268	14	282	0.0497	20	c.606 others(37): Show c.606+1253_606+1254insCTCTCTCTCTCTGTCTGTCT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	124959523	C C	CATATATA others(13): Show CATATATATACACACATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02280.hp1 others(2): Show HG01109.hp2 HG01884.hp1 HG02280.hp1 HG02572.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 others(2): Show a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0006t0041	a0001c0001t0036g0139 a0001c0001t0037g0136 a0001c0001t0038g0137 others(2): Show a0001c0001t0036g0139 a0001c0001t0037g0136 a0001c0001t0038g0137 a0001c0001t0040g0138 a0001c0006t0041g0135	5	306	0.0163	20	c.167 others(39): Show c.1675-6590_1675-6571dupATATATGTGTGTATATATAT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	17/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(13): Show TGTGTGTGTACACACACACAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19072.hp1 NA19004.hp1 NA19072.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0007 a0001c0003t0016g0035 a0001c0003t0016g0007 a0001c0003t0016g0035	2	306	0.0065	20	c.231 others(39): Show c.231-12896_231-12895insGTGTGTGTGTGTACACACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(13): Show TGTGTGTGTGTACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0002 a0001c0001t0055g0002	1	306	0.0033	20	c.231 others(39): Show c.231-12896_231-12895insGTGTGTGTGTACACACACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG02630.hp1 others(1): Show HG00639.hp1 HG00738.hp2 HG02630.hp1 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0002 a0001c0003t0004 a0001c0003t0068 others(1): Show a0001c0001t0002 a0001c0003t0004 a0001c0003t0068 a0002c0005t0039	a0001c0001t0002g0017 a0001c0003t0004g0066 a0001c0003t0068g0067 others(1): Show a0001c0001t0002g0017 a0001c0003t0004g0066 a0001c0003t0068g0067 a0002c0005t0039g0219	4	306	0.0131	20	c.231 others(39): Show c.231-12896_231-12895insGTGTGTGTACACACACACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01261.hp2 HG02132.hp1 others(9): Show HG00408.hp2 HG01261.hp2 HG02132.hp1 HG02135.hp1 HG02559.hp1 HG02922.hp1 NA18944.hp2 NA18955.hp2 NA19030.hp1 NA19055.hp1 NA19079.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0004 a0001c0003t0016 others(5): Show a0001c0001t0002 a0001c0003t0004 a0001c0003t0016 a0001c0003t0025 a0001c0003t0030 a0001c0003t0033 a0001c0003t0034 a0001c0003t0070	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0018 others(9): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0003t0004g0053 a0001c0003t0004g0086 a0001c0003t0016g0059 a0001c0003t0025g0127 a0001c0003t0030g0115 a0001c0003t0033g0054 a0001c0003t0034g0184 a0001c0003t0070g0052	12	306	0.0392	20	c.231 others(39): Show c.231-12896_231-12895insGTGTGTACACACACACACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar

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