Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SEMA3E_chr7_83358238_83654139	83454268	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0060 a0001c0010t0060	a0001c0010t0060g0061 a0001c0010t0060g0061	1	226	0.0044	23	c.456 others(42): Show c.456+12213_456+12214insATATATATATATATATATATATA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83479311	C C	CTTAGCAT others(16): Show CTTAGCATTTTATTTGAAACTTTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0084 a0001c0002t0084	a0001c0002t0084g0161 a0001c0002t0084g0161	1	226	0.0044	23	c.277 others(42): Show c.277-10010_277-10009insTAAAGTTTCAAATAAAATGCTAA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	2/16			chr7	TogoVar
SEMA4C_chr2_96854718_96875080	96855972	T T	TCAACAAC others(16): Show TCAACAACAACAACAACAACAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	350	0.0029	23	c.46 others(34): Show c.4631_*4653dupTTTTGTTGTTGTTGTTGTTGTTG	SEMA4C	ENSG00000168758.11	transcript	ENST00000305476.10	protein_coding		3745		chr2	TogoVar
SEMA4D_chr9_89372235_89503113	89461700	C C	CTCTCTCT others(16): Show CTCTCTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03490.hp2 HG04228.hp2 others(2): Show HG02083.hp1 HG03490.hp2 HG04228.hp2 NA18987.hp2 NA19064.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0007 a0001c0004t0004 a0001c0004t0025 a0001c0003t0007 a0001c0004t0004 a0001c0004t0025	a0001c0003t0007g0108 a0001c0004t0004g0184 a0001c0004t0004g0200 others(2): Show a0001c0003t0007g0108 a0001c0004t0004g0184 a0001c0004t0004g0200 a0001c0004t0004g0253 a0001c0004t0025g0181	5	370	0.0135	23	c.-30 others(42): Show c.-309-5748_-309-5747insAAAAAAAAAAAAAAAAAGAGAGA	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9109028	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19030.hp1 HG03139.hp2 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0008 a0001c0007 a0001c0008	a0001c0007t0025 a0001c0008t0027 a0001c0007t0025 a0001c0008t0027	a0001c0007t0025g0062 a0001c0008t0027g0035 a0001c0007t0025g0062 a0001c0008t0027g0035	2	134	0.0149	23	c.192 others(40): Show c.1926-764_1926-742dupAAAAAAAAAAAAAAAAAAAAAAA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	15/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	122935686	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0247	1	290	0.0035	23	c.474 others(40): Show c.474+3716_474+3738dupAAAAAAAAAAAAAAAAAAAAAAA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	5/22			chr3	TogoVar
SEMA6A_chr5_116438555_116579823	116448196	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0142 a0001c0003t0004g0142	1	304	0.0033	23	c.189 others(40): Show c.1895-386_1895-385insATTTTTTTTTTTTTTTTTTTTTT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	18/18			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116524797	C C	CACACAGA others(16): Show CACACAGACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	304	0.0033	23	c.-38 others(42): Show c.-38-19816_-38-19815insTGTGTGTGTGTGTGTGTCTGTGT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SENP1_chr12_48037897_48111079	48058907	T T	TACTGACA others(16): Show TACTGACAAATTTGTTTCTTCTGC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0384 a0001c0001t0001g0384	1	394	0.0025	23	c.140 others(42): Show c.1407+4780_1407+4802dupGCAGAAGAAACAAATTTGTCAGT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP2_chr3_185581295_185638551	185587570	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02165.hp1 HG03704.hp1 others(11): Show HG02071.hp2 HG02165.hp1 HG03704.hp1 HG03831.hp2 HG04199.hp2 NA18941.hp2 NA18948.hp1 NA18957.hp1 NA18962.hp2 NA18971.hp2 NA18973.hp2 NA18979.hp2 NA19001.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0011 a0002c0002t0080 others(9): Show a0002c0002t0008 a0002c0002t0011 a0002c0002t0080 a0002c0002t0082 a0002c0002t0087 a0002c0002t0088 a0002c0002t0090 a0002c0002t0094 a0002c0002t0097 a0002c0002t0100 a0002c0002t0101 a0002c0002t0104	a0002c0002t0008g0327 a0002c0002t0011g0317 a0002c0002t0011g0318 others(11): Show a0002c0002t0008g0327 a0002c0002t0011g0317 a0002c0002t0011g0318 a0002c0002t0011g0321 a0002c0002t0080g0323 a0002c0002t0082g0328 a0002c0002t0087g0325 a0002c0002t0088g0326 a0002c0002t0090g0330 a0002c0002t0094g0324 a0002c0002t0097g0322 a0002c0002t0100g0329 a0002c0002t0101g0319 a0002c0002t0104g0320	14	360	0.0389	23	c.101 others(40): Show c.101+1070_101+1071insTTTTTTTTTTTTTTTTTTTTTTT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185628417	A A	ATGTGCCA others(16): Show ATGTGCCACCACGCCCGGTGACAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0217 a0001c0003t0217	a0001c0003t0217g0014 a0001c0003t0217g0014	1	360	0.0028	23	c.170 others(42): Show c.1708-1364_1708-1342dupTGTGCCACCACGCCCGGTGACAT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185631473	T T	TCCCTCTC others(16): Show TCCCTCTCCCTCCCTCCCCCTCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0112 a0002c0002t0112	a0002c0002t0112g0231 a0002c0002t0112g0231	1	360	0.0028	23	c.16 others(34): Show c.1634_*1635insTCCCTCCCTCCCCCTCCCCCCTC	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1635	INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185631477	T T	TCTCCCTC others(16): Show TCTCCCTCCCTCCCCCTCCCCCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG01978.hp2 HG04204.hp1 HG01192.hp1 HG01978.hp2 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0106 a0002c0002t0113 a0002c0002t0114 a0002c0002t0106 a0002c0002t0113 a0002c0002t0114	a0002c0002t0106g0250 a0002c0002t0113g0247 a0002c0002t0114g0236 a0002c0002t0106g0250 a0002c0002t0113g0247 a0002c0002t0114g0236	3	360	0.0083	23	c.16 others(34): Show c.1634_*1635insTCCCTCCCTCCCCCTCCCCCTCC	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1635	INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0133 a0001c0001t0017g0133	1	306	0.0033	23	c.188 others(42): Show c.1885-8827_1885-8826insAAAAAAAAAAAAAAATATATATA	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(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	306	0.0033	23	c.188 others(42): Show c.1885-8827_1885-8826insAAAAAAAAAAATATATATATATA	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(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19056.hp1 NA18999.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0061 a0001c0001t0002g0063	2	306	0.0065	23	c.188 others(42): Show c.1885-8827_1885-8826insAAAAAAATATATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0021 a0001c0005t0021	a0001c0005t0021g0085 a0001c0005t0021g0085	1	306	0.0033	23	c.188 others(42): Show c.1885-8828_1885-8827insTATATATATATATATATATATAT	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9			chr3	TogoVar
SENP6_chr6_75596880_75723281	75705924	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01516.hp1 HG01517.hp1 HG01243.hp2 HG01516.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0039 a0002c0003t0003g0051 a0002c0003t0003g0052 a0002c0003t0003g0039 a0002c0003t0003g0051 a0002c0003t0003g0052	3	362	0.0083	23	c.271 others(42): Show c.2716+2852_2716+2853insTTTTTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	19/23			chr6	TogoVar
SENP6_chr6_75596880_75723281	75719958	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	362	0.0028	23	c.43 others(34): Show c.4364_*4365insTTTTTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding		1678		chr6	TogoVar
SENP7_chr3_101319205_101518212	101499535	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01106.hp1 others(6): Show HG00140.hp2 HG00642.hp1 HG01106.hp1 HG01516.hp1 HG01517.hp1 HG02486.hp1 HG02970.hp1 HG03209.hp2 HG03710.hp1	a0003 a0007 a0003 a0007	a0003c0004 a0007c0010 a0003c0004 a0007c0010	a0003c0004t0002 a0007c0010t0002 a0003c0004t0002 a0007c0010t0002	a0003c0004t0002g0105 a0003c0004t0002g0106 a0003c0004t0002g0107 others(6): Show a0003c0004t0002g0105 a0003c0004t0002g0106 a0003c0004t0002g0107 a0003c0004t0002g0108 a0003c0004t0002g0109 a0003c0004t0002g0110 a0003c0004t0002g0111 a0003c0004t0002g0118 a0007c0010t0002g0112	9	370	0.0243	23	c.90+ others(38): Show c.90+1534_90+1535insAAAAAAAAAAAAAAAAAAAAAAA	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	2/23			chr3	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0006 a0007c0008t0006	a0007c0008t0006g0088 a0007c0008t0006g0088	1	390	0.0026	23	c.720 others(40): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAAAATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN14_chr7_55788540_55867752	55857399	A A	AAGAGAAG others(16): Show AAGAGAAGAGAAGAGAAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	390	0.0026	23	c.54+ others(38): Show c.54+4521_54+4543dupCTCTTCTTTCTCTTCTCTTCTCT	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	2/9			chr7	TogoVar
SEPTIN2_chr2_241310925_241359027	241344878	T T	TGACATGG others(16): Show TGACATGGTGAAACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp1 HG02630.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0275 a0001c0001t0019g0276 a0001c0001t0019g0275 a0001c0001t0019g0276	2	408	0.0049	23	c.842 others(40): Show c.842+1005_842+1027dupGACATGGTGAAACCAGCCTGGCC	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN5_chr22_19709503_19728319	19712694	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	23	c.-18 others(34): Show c.-1895_-1894insTTTTTTTTTTTTTTTTTTTTTTT	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		1808		chr22	TogoVar
SEPTIN7_chr7_35796057_35912110	35829128	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	346	0.0029	23	c.62- others(38): Show c.62-2362_62-2340dupTTTTTTTTTTTTTTTTTTTTTTT	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169480	A A	ATATAATA others(16): Show ATATAATATACTGTATATTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02451.hp1 others(12): Show HG01243.hp2 HG01891.hp1 HG02451.hp1 HG02451.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 others(12): Show a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0315 a0001c0002t0003g0316 a0001c0002t0003g0317 a0001c0002t0003g0318 a0001c0002t0003g0319 a0001c0002t0003g0320 a0001c0002t0003g0322 a0001c0002t0003g0340	15	366	0.0410	23	c.-13 others(34): Show c.-1343_-1342insCATATAATATACAGTATATTATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1219		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169745	T T	TAATATAT others(16): Show TAATATATTGTATATTGTATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02451.hp1 others(11): Show HG01243.hp2 HG01891.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03579.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0003 a0003c0006t0003 a0003c0006t0017 a0001c0002t0003 a0003c0006t0003 a0003c0006t0017	a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 others(11): Show a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0315 a0001c0002t0003g0316 a0001c0002t0003g0317 a0001c0002t0003g0318 a0003c0006t0003g0265 a0003c0006t0003g0266 a0003c0006t0017g0272	14	366	0.0383	23	c.-16 others(34): Show c.-1608_-1607insTAATATACAATATACAATATATT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1484		chr6	TogoVar
SERHL2_chr22_42548956_42579382	42559229	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG02074.hp1 others(9): Show HG00423.hp2 HG00544.hp2 HG02074.hp1 HG02083.hp1 HG03942.hp1 NA18944.hp1 NA18949.hp1 NA18953.hp1 NA18984.hp1 NA19010.hp1 NA19060.hp2 NA19067.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0004c0004t0001	a0002c0002t0001g0013 a0002c0002t0001g0038 a0002c0002t0001g0243 others(7): Show a0002c0002t0001g0013 a0002c0002t0001g0038 a0002c0002t0001g0243 a0002c0002t0001g0248 a0002c0002t0001g0267 a0002c0002t0001g0345 a0002c0002t0002g0230 a0002c0002t0004g0013 a0004c0004t0001g0319 a0004c0004t0001g0320	12	432	0.0278	23	c.533 others(38): Show c.533+777_533+799dupAAAAAAAAAAAAAAAAAAAAAAA	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERINC2_chr1_31408213_31439678	31414421	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19003.hp1 NA18981.hp2 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0002c0002t0001 a0001c0003t0004 a0002c0002t0001	a0001c0003t0004g0269 a0002c0002t0001g0360 a0001c0003t0004g0269 a0002c0002t0001g0360	2	376	0.0053	23	c.39+ others(38): Show c.39+1117_39+1118insGTGTGTGTGTGTGTGTGTGTGTG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9			chr1	TogoVar
SERP2_chr13_44368824_44402714	44392196	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0234	1	354	0.0028	23	c.158 others(40): Show c.158-5059_158-5058insAAAAAAAAAAAAAAAAAAAAAAA	SERP2	ENSG00000151778.11	transcript	ENST00000379179.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr13	TogoVar
SERPINA5_chr14_94576426_94598118	94591559	A A	ATTCTATT others(16): Show ATTCTATTCTATTCTATTCTATTC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0209 a0003c0002t0004g0209	1	464	0.0022	23	c.103 others(40): Show c.1039-496_1039-474dupTCTATTCTATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINB4_chr18_63632259_63649256	63633544	A A	AAAGGCCT others(16): Show AAAGGCCTGTACACCGAAAATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01109.hp1 others(14): Show HG00099.hp2 HG00735.hp2 HG01109.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp1 HG03225.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0004 a0002c0002t0001g0011	17	424	0.0401	23	c.41 others(34): Show c.4174_*4175insATAATTTTCGGTGTACAGGCCTT	SERPINB4	ENSG00000206073.11	transcript	ENST00000341074.10	protein_coding		3714		chr18	TogoVar
SERPINB5_chr18_63471958_63510085	63497499	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0162 a0007c0012t0001g0162	1	410	0.0024	23	c.568 others(40): Show c.568-1606_568-1605insAAAAAAAAAAAAAAAAAAAAAAA	SERPINB5	ENSG00000206075.14	transcript	ENST00000382771.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPIND1_chr22_20769113_20792720	20780775	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	412	0.0024	23	c.889 others(38): Show c.889+590_889+591insAAAAAAAAAAAAAAAAAAAAAAA	SERPIND1	ENSG00000099937.11	transcript	ENST00000215727.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERPINE1_chr7_101122104_101144247	101136404	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	436	0.0023	23	c.108 others(40): Show c.1088-595_1088-594insGAAAGAAAGAAAGAAAGAAAGAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SESTD1_chr2_179096678_179269832	179223145	G G	GGATAAAC others(16): Show GGATAAACTTAGAAAACATACTAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	274	0.0037	23	c.-25 others(42): Show c.-25-31302_-25-31280dupTTAGTATGTTTTCTAAGTTTATC	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	1/17			chr2	TogoVar
SETBP1_chr18_44675888_45073510	44787860	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0052 a0003c0003t0017g0052	1	140	0.0071	23	c.487 others(42): Show c.487-81350_487-81349insAAAAAAAAAAAAAAAAAAAAAAA	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(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03710.hp1 NA18964.hp1 HG02165.hp1 HG03710.hp1 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0010 a0002c0002t0001g0012 a0002c0002t0002g0045 a0001c0001t0002g0010 a0002c0002t0001g0012 a0002c0002t0002g0045	3	140	0.0214	23	c.540 others(42): Show c.540+16573_540+16574insAAAAAAAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD1B_chr12_121799009_121837656	121799727	G G	GGGGGTGG others(16): Show GGGGGTGGGGGGGGTGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	262	0.0038	23	c.-45 others(34): Show c.-4521_-4520insGGGGTGGGGGGGGTGGGGGGGGT	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4281		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121834987	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	262	0.0038	23	c.47 others(34): Show c.4748_*4749insTTCTTTCTTTCTTTCTTTCTTTC	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		2332		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121835028	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02976.hp2 others(1): Show HG01257.hp2 HG01258.hp2 HG02976.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0012 a0001c0005t0005g0026 a0001c0005t0005g0012 a0001c0005t0005g0026	4	262	0.0153	23	c.47 others(34): Show c.4789_*4790insTTCTTTCTTTCTTTCTTTCTTTC	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		2373		chr12	TogoVar
SETD2_chr3_47011436_47169113	47044344	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	308	0.0033	23	c.709 others(42): Show c.7099-1667_7099-1645dupTTTTTTTTTTTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	16/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47058440	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0134 a0004c0004t0001g0134	1	308	0.0033	23	c.629 others(40): Show c.6294-973_6294-951dupTTTTTTTTTTTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	14/20			chr3	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18957.hp1 NA18970.hp2 others(1): Show HG02083.hp2 NA18957.hp1 NA18970.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0064 a0001c0001t0001g0091 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0064 a0001c0001t0001g0091 a0001c0001t0001g0097	4	290	0.0138	23	c.676 others(40): Show c.676-9677_676-9655dupTTTTTTTTTTTTTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD4_chr21_36029541_36065526	36031801	A A	ATGTGTGT others(16): Show ATGTGTGTGTGTGGGGGACACTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	398	0.0025	23	c.41 others(34): Show c.4191_*4192insCCAGTGTCCCCCACACACACACA	SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding		2739		chr21	TogoVar
SETD5_chr3_9392615_9483154	9425055	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02055.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0038 a0001c0001t0006 a0001c0001t0038	a0001c0001t0006g0236 a0001c0001t0038g0235 a0001c0001t0006g0236 a0001c0001t0038g0235	2	240	0.0083	23	c.-11 others(40): Show c.-117+530_-117+552dupTTTTTTTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETDB1_chr1_150921363_150969737	150933368	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0018 a0001c0021t0001g0018	1	352	0.0028	23	c.412 others(40): Show c.412+3267_412+3268insTTTTTTTTTTTTTTTTTTTTTTT	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEZ6L_chr22_26164462_26388596	26343371	G G	GGTTAACC others(16): Show GGTTAACCAGAAAGGCTGGTCAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0073 a0002c0002t0002g0073	1	240	0.0042	23	c.221 others(42): Show c.2212+2752_2212+2753insGCTGGTCAAAGTTAACCAGAAAG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348565	G G	GGGAGGAA others(16): Show GGGAGGAAAGAAAGAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0091 a0001c0006t0004g0091	1	240	0.0042	23	c.240 others(40): Show c.2407+653_2407+654insGAGGAAAGAAAGAAGAAAGAAAG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369341	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG00642.hp1 others(24): Show HG00621.hp2 HG00639.hp2 HG00642.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01993.hp2 HG02040.hp2 HG02129.hp1 HG02273.hp1 HG02735.hp2 HG03017.hp1 HG03239.hp1 HG03491.hp1 HG03540.hp2 HG03710.hp1 NA18982.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA19060.hp1 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0010 a0006c0019	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0025 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0027 a0001c0009t0003 a0001c0010t0002 a0006c0019t0003	a0001c0001t0002g0057 a0001c0001t0002g0086 a0001c0001t0002g0131 others(24): Show a0001c0001t0002g0057 a0001c0001t0002g0086 a0001c0001t0002g0131 a0001c0001t0002g0142 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0003g0032 a0001c0001t0003g0049 a0001c0001t0003g0130 a0001c0001t0003g0134 a0001c0001t0003g0215 a0001c0001t0003g0222 a0001c0001t0005g0133 a0001c0001t0005g0201 a0001c0001t0011g0080 a0001c0001t0025g0238 a0001c0003t0002g0040 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0054 a0001c0003t0003g0055 a0001c0003t0010g0024 a0001c0003t0027g0157 a0001c0009t0003g0113 a0001c0010t0002g0239 a0001c0010t0002g0240 a0006c0019t0003g0081	27	240	0.1125	23	c.279 others(42): Show c.2794+3779_2794+3780insTTTTTTTTTTTTTTTTTTTTTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar

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