Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SEMA3C_chr7_80737538_80924051	80746718	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18978.hp2 HG01255.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0012 a0001c0001t0001g0032	2	244	0.0082	19	c.184 others(38): Show c.1843-1412_1843-1411insACACACACACACACACACA	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	17/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80754948	T T	TTTTTTTT others(12): Show TTTTTTTTTTGTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0124 a0001c0001t0002g0108 a0001c0001t0002g0124	2	244	0.0082	19	c.164 others(38): Show c.1643+3382_1643+3383insCAAAAAAAACAAAAAAAAA	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	15/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80815554	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18953.hp2 NA18990.hp2 others(1): Show HG04228.hp2 NA18953.hp2 NA18990.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0002c0005 a0001c0002 a0001c0012 a0002c0005	a0001c0002t0001 a0001c0012t0001 a0002c0005t0001 a0001c0002t0001 a0001c0012t0001 a0002c0005t0001	a0001c0002t0001g0216 a0001c0002t0001g0237 a0001c0012t0001g0194 others(1): Show a0001c0002t0001g0216 a0001c0002t0001g0237 a0001c0012t0001g0194 a0002c0005t0001g0071	4	244	0.0164	19	c.447 others(36): Show c.447+2726_447+2744dupTTTTTTTTTTTTTTTTTTT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	5/17			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83539896	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0036 a0002c0004t0012g0036	1	226	0.0044	19	c.116 others(38): Show c.116-49623_116-49622insCACACACACACACACACAC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83639110	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0090 a0002c0004t0090	a0002c0004t0090g0176 a0002c0004t0090g0176	1	226	0.0044	19	c.115 others(36): Show c.115+9299_115+9317dupTTTTTTTTTTTTTTTTTTT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA4B_chr15_90196330_90234660	90231150	C C	CCCGTGAG others(12): Show CCCGTGAGGCAGTTCACCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0208 a0001c0006t0005g0208	1	420	0.0024	19	c.25 others(30): Show c.2507_*2508insCCGTGAGGCAGTTCACCAG	SEMA4B	ENSG00000185033.15	transcript	ENST00000411539.7	protein_coding		1491		chr15	TogoVar
SEMA4D_chr9_89372235_89503113	89450659	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02145.hp2 HG00673.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0047 a0002c0002t0002 a0002c0002t0047	a0002c0002t0002g0307 a0002c0002t0047g0346 a0002c0002t0002g0307 a0002c0002t0047g0346	2	370	0.0054	19	c.-24 others(38): Show c.-244+5228_-244+5229insTTTTTTTTTTTTTTTTTTT	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89450660	G G	GGAAAAAA others(12): Show GGAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	370	0.0027	19	c.-24 others(38): Show c.-244+5227_-244+5228insTTTTTTTTTTTTTTTTTTC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9123258	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0111 a0001c0001t0008g0111	1	134	0.0075	19	c.160 others(36): Show c.1600-440_1600-422dupTTTTTTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353184	G G	GGAAAGGA others(12): Show GGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	134	0.0075	19	c.125 others(38): Show c.125-15373_125-15372insTTTCCTTTCCTTTCCTTTC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	122935686	C C	CTTTCTTT others(12): Show CTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01496.hp2 HG00323.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0131 a0001c0001t0002g0056 a0001c0001t0002g0131	2	290	0.0069	19	c.474 others(36): Show c.474+3738_474+3739insAAAAAAAAAAAAAAAGAAA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	5/22			chr3	TogoVar
SEMA5B_chr3_122904082_123032763	122935686	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18990.hp2 NA19056.hp1 others(1): Show HG02083.hp2 NA18990.hp2 NA19056.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0090 a0002c0002t0001g0212 a0002c0002t0002g0074 others(1): Show a0001c0001t0002g0090 a0002c0002t0001g0212 a0002c0002t0002g0074 a0002c0002t0002g0085	4	290	0.0138	19	c.474 others(36): Show c.474+3720_474+3738dupAAAAAAAAAAAAAAAAAAA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	5/22			chr3	TogoVar
SEMA6A_chr5_116438555_116579823	116448196	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0008 a0001c0003t0004g0008	1	304	0.0033	19	c.189 others(36): Show c.1895-386_1895-385insATTTTTTTTTTTTTTTTTT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	18/18			chr5	TogoVar
SENP1_chr12_48037897_48111079	48082552	C C	CTGGAAGC others(12): Show CTGGAAGCTCTAATGCTATT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp2 HG02886.hp2 others(3): Show HG02622.hp2 HG02723.hp2 HG02886.hp2 HG03516.hp1 NA19077.hp1 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0151 a0001c0003t0008g0293 a0001c0003t0008g0294 others(3): Show a0001c0003t0008g0151 a0001c0003t0008g0293 a0001c0003t0008g0294 a0001c0003t0008g0349 a0001c0003t0008g0350 a0001c0003t0008g0351	6	394	0.0152	19	c.552 others(36): Show c.552+1020_552+1038dupAATAGCATTAGAGCTTCCA	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP2_chr3_185581295_185638551	185587570	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0283 a0002c0002t0048g0283	1	360	0.0028	19	c.101 others(36): Show c.101+1070_101+1071insTTTTTTTTTTTTTTTTTTT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185623826	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03704.hp1 HG03017.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0082 a0002c0002t0016 a0002c0002t0082	a0002c0002t0016g0303 a0002c0002t0082g0328 a0002c0002t0016g0303 a0002c0002t0082g0328	2	360	0.0056	19	c.152 others(36): Show c.1527-166_1527-148dupAAAAAAAAAAAAAAAAAAA	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914584	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp2 HG02922.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0019 a0001c0005t0075 a0001c0002t0019 a0001c0005t0075	a0001c0002t0019g0013 a0001c0005t0075g0084 a0001c0002t0019g0013 a0001c0005t0075g0084	2	306	0.0065	19	c.188 others(38): Show c.1885-8830_1885-8829insTATATATATATATATATAT	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9			chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0154 a0001c0002t0005g0154	1	306	0.0033	19	c.188 others(38): Show c.1885-8827_1885-8826insAAAAAAAAAAAAAAATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18949.hp2 NA19240.hp2 HG00741.hp1 NA18949.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008	a0001c0002t0003g0118 a0001c0002t0005g0159 a0001c0002t0008g0155 a0001c0002t0003g0118 a0001c0002t0005g0159 a0001c0002t0008g0155	3	306	0.0098	19	c.188 others(38): Show c.1885-8827_1885-8826insAAAAAAAAAAATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02027.hp1 HG02970.hp2 others(4): Show HG00609.hp2 HG02027.hp1 HG02970.hp2 HG03831.hp2 NA18953.hp2 NA18985.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 others(1): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008	a0001c0002t0003g0127 a0001c0002t0003g0175 a0001c0002t0003g0177 others(4): Show a0001c0002t0003g0127 a0001c0002t0003g0175 a0001c0002t0003g0177 a0001c0002t0005g0160 a0001c0002t0006g0279 a0001c0002t0008g0173 a0001c0002t0008g0280	7	306	0.0229	19	c.188 others(38): Show c.1885-8827_1885-8826insAAAAAAAAATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19070.hp1 NA19090.hp1 NA18995.hp2 NA19070.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0040 a0001c0002t0041 a0001c0002t0006 a0001c0002t0040 a0001c0002t0041	a0001c0002t0006g0187 a0001c0002t0040g0185 a0001c0002t0041g0121 a0001c0002t0006g0187 a0001c0002t0040g0185 a0001c0002t0041g0121	3	306	0.0098	19	c.188 others(38): Show c.1885-8827_1885-8826insAAAAAAATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0015 a0001c0002t0034g0015	1	306	0.0033	19	c.188 others(38): Show c.1885-8827_1885-8826insAAATATATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP6_chr6_75596880_75723281	75705924	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG02698.hp1 others(1): Show HG00741.hp1 HG01074.hp2 HG02698.hp1 HG02738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0026 a0002c0003t0003g0043 a0002c0003t0003g0046 others(1): Show a0002c0003t0003g0026 a0002c0003t0003g0043 a0002c0003t0003g0046 a0002c0003t0003g0047	4	362	0.0111	19	c.271 others(38): Show c.2716+2852_2716+2853insTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	19/23			chr6	TogoVar
SENP6_chr6_75596880_75723281	75719958	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 NA19082.hp2 HG03688.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0146 a0001c0001t0005g0155 a0001c0001t0005g0146 a0001c0001t0005g0155	2	362	0.0055	19	c.43 others(30): Show c.4364_*4365insTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding		1678		chr6	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03540.hp1 HG02723.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0099 a0001c0001t0006g0090 a0001c0001t0006g0099	2	390	0.0051	19	c.720 others(36): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0144 a0001c0001t0006g0144	1	390	0.0026	19	c.720 others(36): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAAAA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN5_chr22_19709503_19728319	19712694	C C	CATTTTTT others(12): Show CATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	384	0.0026	19	c.-18 others(30): Show c.-1895_-1894insATTTTTTTTTTTTTTTTTT	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		1808		chr22	TogoVar
SEPTIN5_chr22_19709503_19728319	19712694	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02074.hp2 NA19060.hp2 HG00544.hp2 HG02074.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	3	384	0.0078	19	c.-18 others(30): Show c.-1895_-1894insTTTTTTTTTTTTTTTTTTT	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		1808		chr22	TogoVar
SEPTIN6_chrX_119611945_119698168	119696441	T T	TCCGTCAA others(12): Show TCCGTCAACACAACCTTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	252	0.0040	19	c.-33 others(30): Show c.-3337_-3336insGGGAAGGTTGTGTTGACGG	SEPTIN6	ENSG00000125354.24	transcript	ENST00000394610.7	protein_coding		3274		chrX	TogoVar
SEPTIN9_chr17_77314518_77505593	77363875	T T	TGGTTCCG others(12): Show TGGTTCCGGCAGCCTTGGTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0050 a0002c0002t0008g0050	1	158	0.0063	19	c.23- others(36): Show c.23-38183_23-38165dupGGTTCCGGCAGCCTTGGTC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158169681	A A	ATATATTA others(12): Show ATATATTATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 NA19086.hp1 HG04115.hp1 NA19086.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0009 a0002c0004t0001g0009	2	366	0.0055	19	c.-15 others(30): Show c.-1544_-1543insCAATATATTATATAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1420		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169707	G G	GTATATTA others(12): Show GTATATTATATATTATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	366	0.0027	19	c.-15 others(30): Show c.-1588_-1570dupTTATATAATATATAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1446		chr6	TogoVar
SERGEF_chr11_17783048_18018047	17826941	A A	AAGGATCA others(12): Show AAGGATCAGGTGACCAGCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(222): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0002c0003 others(10): Show a0001c0001 a0001c0002 a0002c0003 a0002c0012 a0003c0006 a0003c0010 a0004c0004 a0005c0005 a0006c0007 a0007c0009 a0008c0011 a0009c0008 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0012t0002 a0003c0006t0002 a0003c0010t0001 a0004c0004t0001 a0005c0005t0002 a0006c0007t0001 a0006c0007t0002 a0007c0009t0001 a0008c0011t0001 a0009c0008t0002 a0010c0013t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(221): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0039 a0001c0002t0001g0086 a0001c0002t0002g0001 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0002c0003t0001g0006 a0002c0003t0001g0013 a0002c0003t0001g0016 a0002c0003t0001g0020 a0002c0003t0001g0036 a0002c0003t0001g0038 a0002c0003t0001g0046 a0002c0003t0001g0048 a0002c0003t0001g0058 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0100 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0123 a0002c0003t0002g0142 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0210 a0002c0003t0002g0218 a0002c0003t0002g0222 a0002c0012t0002g0156 a0003c0006t0002g0165 a0003c0006t0002g0178 a0003c0010t0001g0072 a0004c0004t0001g0002 a0004c0004t0001g0003 a0004c0004t0001g0004 a0005c0005t0002g0223 a0005c0005t0002g0224 a0005c0005t0002g0225 a0006c0007t0001g0101 a0006c0007t0002g0147 a0007c0009t0001g0017 a0008c0011t0001g0032 a0009c0008t0002g0136 a0010c0013t0001g0112	225	226	0.9956	19	c.104 others(40): Show c.1049-38529_1049-38528insGGGCTGGTCACCTGATCCT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	10/10			chr11	TogoVar
SERINC1_chr6_122438351_122476807	122441327	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01109.hp1 HG01361.hp1 others(28): Show HG00438.hp2 HG01109.hp1 HG01361.hp1 HG02004.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp2 HG03704.hp1 HG04115.hp2 NA18950.hp2 NA18968.hp1 NA18970.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18985.hp2 NA18987.hp1 NA19043.hp1 NA19068.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0036 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0199 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0256 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0009g0201 a0001c0001t0011g0197 a0001c0001t0015g0142 a0001c0002t0001g0196 a0001c0002t0001g0203 a0001c0002t0001g0206 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0212	31	366	0.0847	19	c.37 others(30): Show c.3716_*3717insTTTTTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding		2023		chr6	TogoVar
SERINC1_chr6_122438351_122476807	122445883	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	366	0.0027	19	c.122 others(36): Show c.1227-705_1227-704insTTTTTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	9/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	366	0.0027	19	c.760 others(32): Show c.760-23_760-22insATATATATATATTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC2_chr1_31408213_31439678	31414421	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01934.hp2 HG01943.hp2 others(6): Show HG01433.hp2 HG01934.hp2 HG01943.hp2 HG02056.hp1 HG02698.hp2 HG03098.hp2 NA18986.hp1 NA19005.hp2 NA19076.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0003t0004 a0001c0003t0022 others(4): Show a0001c0001t0001 a0001c0003t0004 a0001c0003t0022 a0001c0005t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0023	a0001c0001t0001g0356 a0001c0003t0004g0261 a0001c0003t0022g0260 others(6): Show a0001c0001t0001g0356 a0001c0003t0004g0261 a0001c0003t0022g0260 a0001c0005t0002g0359 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0001g0358 a0002c0002t0002g0281 a0002c0002t0023g0353	9	376	0.0239	19	c.39+ others(34): Show c.39+1117_39+1118insGTGTGTGTGTGTGTGTGTG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9			chr1	TogoVar
SERINC4_chr15_43789162_43805220	43802569	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0048 a0005c0005t0001g0048	1	382	0.0026	19	c.-26 others(30): Show c.-2602_-2584dupTTTTTTTTTTTTTTTTTTT	SERINC4	ENSG00000184716.14	transcript	ENST00000319327.7	protein_coding		2350		chr15	TogoVar
SERP2_chr13_44368824_44402714	44398015	A A	AATAAATA others(12): Show AATAAATAACACCTTTCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	354	0.0028	19	c.70 others(28): Show c.703_*704insATAAATAACACCTTTCCGC	SERP2	ENSG00000151778.11	transcript	ENST00000379179.8	protein_coding		302		chr13	TogoVar
SERPINB1_chr6_2827332_2846863	2845376	A A	ATAATATA others(12): Show ATAATATATTTTCTTTTAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(259): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0003c0005 others(1): Show a0001c0001 a0001c0003 a0003c0005 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0003t0004 a0003c0005t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0025 a0001c0001t0003g0005 a0001c0001t0005g0012 a0001c0001t0005g0045 a0001c0001t0006g0007 a0001c0001t0009g0074 a0001c0001t0009g0095 a0001c0001t0010g0018 a0001c0001t0011g0017 a0001c0001t0012g0019 a0001c0001t0013g0092 a0001c0001t0014g0028 a0001c0001t0017g0036 a0001c0001t0018g0070 a0001c0001t0020g0043 a0001c0001t0021g0053 a0001c0001t0022g0054 a0001c0001t0024g0044 a0001c0001t0027g0104 a0001c0003t0004g0006 a0003c0005t0001g0058 a0003c0005t0001g0071 a0005c0007t0001g0067	262	478	0.5481	19	c.-35 others(30): Show c.-3574_-3573insCCTAAAAGAAAATATATTA	SERPINB1	ENSG00000021355.13	transcript	ENST00000380739.6	protein_coding		3514		chr6	TogoVar
SERPINE1_chr7_101122104_101144247	101136404	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	436	0.0023	19	c.108 others(36): Show c.1088-595_1088-594insGAAAGAAAGAAAGAAAGAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINF2_chr17_1737871_1760265	1756152	A A	AGGAACGG others(12): Show AGGAACGGCATGTGCAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0019 a0003c0003t0019	a0003c0003t0019g0124 a0003c0003t0019g0124	1	445	0.0023	19	c.16 others(30): Show c.1618_*1619insGGAACGGCATGTGCAGAGG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		888		chr17	TogoVar
SERTAD3_chr19_40435844_40449335	40436123	A A	ACTATCTA others(12): Show ACTATCTATCATCTATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	378	0.0027	19	c.53 others(30): Show c.5366_*5367insATAGATAGATGATAGATAG	SERTAD3	ENSG00000167565.13	transcript	ENST00000322354.4	protein_coding		4720		chr19	TogoVar
SERTAD3_chr19_40435844_40449335	40439077	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0009	1	378	0.0027	19	c.24 others(30): Show c.2412_*2413insAAAAAAAAAAAAAAAAAAA	SERTAD3	ENSG00000167565.13	transcript	ENST00000322354.4	protein_coding		1766		chr19	TogoVar
SERTAD4_chr1_210227796_210251255	210241079	G G	GGTTAGTT others(12): Show GGTTAGTTACATACCCATGT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	420	0.0024	19	c.292 others(34): Show c.292-479_292-478insGTTAGTTACATACCCATGT	SERTAD4	ENSG00000082497.12	transcript	ENST00000367012.4	protein_coding	3/3			chr1	TogoVar
SETBP1_chr18_44675888_45073510	44679873	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0133 a0001c0009t0002g0133	1	140	0.0071	19	c.-13 others(30): Show c.-1321_-1320insAAAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding		1014		chr18	TogoVar
SETBP1_chr18_44675888_45073510	44787860	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG01074.hp2 others(22): Show HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01175.hp1 HG01255.hp2 HG01261.hp1 HG02055.hp2 HG02083.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02922.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03710.hp2 NA18906.hp2 NA18989.hp2 NA19030.hp2 NA19066.hp1 NA19066.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0009c0018 a0011c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0008 a0003c0003t0013 a0004c0004t0001 a0005c0006t0003 a0009c0018t0004 a0011c0013t0021	a0001c0001t0001g0005 a0001c0001t0001g0061 a0001c0001t0001g0065 others(22): Show a0001c0001t0001g0005 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0137 a0001c0001t0002g0026 a0001c0001t0002g0094 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0006g0056 a0001c0001t0009g0027 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0081 a0002c0002t0001g0136 a0002c0002t0002g0045 a0003c0003t0001g0139 a0003c0003t0008g0051 a0003c0003t0013g0103 a0004c0004t0001g0054 a0005c0006t0003g0022 a0009c0018t0004g0050 a0011c0013t0021g0090	25	140	0.1786	19	c.487 others(38): Show c.487-81368_487-81350dupAAAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44885842	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18906.hp1 HG02622.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0073 a0002c0002t0001g0074	2	140	0.0143	19	c.540 others(38): Show c.540+16573_540+16574insAAAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD1B_chr12_121799009_121837656	121835028	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG03209.hp1 others(3): Show HG01243.hp2 HG01255.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 NA19081.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0031 a0017c0046	a0001c0001t0002 a0001c0002t0001 a0001c0003t0005 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0005 a0001c0005t0005 a0001c0031t0005 a0017c0046t0005	a0001c0001t0002g0072 a0001c0002t0001g0017 a0001c0003t0005g0030 others(3): Show a0001c0001t0002g0072 a0001c0002t0001g0017 a0001c0003t0005g0030 a0001c0005t0005g0012 a0001c0031t0005g0142 a0017c0046t0005g0040	6	262	0.0229	19	c.47 others(30): Show c.4789_*4790insTTCTTTCTTTCTTTCTTTC	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		2373		chr12	TogoVar
SETD2_chr3_47011436_47169113	47106493	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0121 a0005c0007t0001g0121	1	308	0.0033	19	c.471 others(36): Show c.4716-392_4716-374dupTTTTTTTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	5/20			chr3	TogoVar

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