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 per page.

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
SEMA3F_chr3_50150324_50194075	50192867	T T	TCCCCTGT others(24): Show TCCCCTGTCCCAGAACAGTTGAGGTCGTTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0141 a0001c0002t0003g0141	1	344	0.0029	31	c.47 others(42): Show c.4752_*4753insCCCCTGTCCCAGAACAGTTGAGGTCGTTGAG	SEMA3F	ENSG00000001617.12	transcript	ENST00000002829.8	protein_coding		3793		chr3	TogoVar
SEMA4D_chr9_89372235_89503113	89450660	G G	GGAAAAAA others(24): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	370	0.0027	31	c.-24 others(50): Show c.-244+5227_-244+5228insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SENP1_chr12_48037897_48111079	48078317	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	394	0.0025	31	c.553 others(48): Show c.553-3525_553-3524insTATATATATATATATATATATATATATA TAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP6_chr6_75596880_75723281	75719958	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0187 a0001c0001t0010g0187	1	362	0.0028	31	c.43 others(42): Show c.4364_*4365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding		1678		chr6	TogoVar
SEPTIN2_chr2_241310925_241359027	241338767	T T	TATATATA others(24): Show TATATATATTATATTTATATTATTTATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0301 a0001c0001t0016g0301	1	408	0.0025	31	c.594 others(47): Show c.594+981_594+1011dupTATATTATATTTATATTATTTATATATAA TA	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241338771	T T	TATATTAT others(24): Show TATATTATATTTATATTATTTATATATAATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp1 others(119): Show HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0025 a0001c0001t0029 a0001c0001t0031	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(88): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0006g0189 a0001c0001t0007g0004 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0007g0173 a0001c0001t0007g0174 a0001c0001t0007g0175 a0001c0001t0007g0176 a0001c0001t0007g0177 a0001c0001t0007g0178 a0001c0001t0007g0179 a0001c0001t0007g0180 a0001c0001t0007g0181 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0190 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0007g0280 a0001c0001t0012g0013 a0001c0001t0012g0029 a0001c0001t0015g0020 a0001c0001t0015g0075 a0001c0001t0015g0076 a0001c0001t0025g0027 a0001c0001t0029g0135 a0001c0001t0031g0120	122	408	0.2990	31	c.594 others(48): Show c.594+1012_594+1042dupCATATTATATTTATATTATTTATATATA ATA	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241338802	C C	CATATTAT others(24): Show CATATTATATTTATATTATTTATATATAATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(85): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG02004.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02486.hp1 HG02622.hp1 HG02698.hp1 HG02735.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03492.hp2 HG03579.hp2 HG03688.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18939.hp1 NA18939.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18987.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19007.hp1 NA19054.hp2 NA19060.hp2 NA19066.hp1 NA19074.hp2 NA19075.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0002t0008 a0001c0004t0002 a0002c0003t0002	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 others(73): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0081 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0006g0050 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0254 a0001c0001t0006g0295 a0001c0001t0006g0296 a0001c0001t0006g0297 a0001c0001t0006g0298 a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0001t0006g0311 a0001c0001t0006g0312 a0001c0001t0006g0313 a0001c0001t0006g0314 a0001c0001t0006g0315 a0001c0001t0008g0053 a0001c0001t0018g0300 a0001c0001t0018g0302 a0001c0002t0008g0149 a0001c0004t0002g0259 a0002c0003t0002g0059	88	408	0.2157	31	c.594 others(48): Show c.594+1017_594+1047dupTATATTTATATTATTTATATATAATATA TAT	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241338830	A A	ATATATAT others(24): Show ATATATATTATATTTATATTATTTATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	408	0.0025	31	c.594 others(48): Show c.594+1047_594+1048insTATATTTATATTATTTATATATATTATA TAT	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN9_chr17_77276499_77505593	77485084	G G	GGGGTGAT others(24): Show GGGGTGATGGTGGTGATTGTGATGGTGGTGAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0109 a0001c0001t0018g0116 a0001c0001t0018g0109 a0001c0001t0018g0116	2	150	0.0133	31	c.914 others(48): Show c.914-2338_914-2337insGTGATGGTGGTGATTGTGATGGTGGTGA TGG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485084	G G	GGGGTGAT others(24): Show GGGGTGATGGTGGTGATTGTGATGGTGGTGAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0088 a0001c0001t0014g0089 a0001c0001t0014g0088 a0001c0001t0014g0089	2	158	0.0127	31	c.860 others(48): Show c.860-2338_860-2337insGTGATGGTGGTGATTGTGATGGTGGTGA TGG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158169341	C C	CGTATATT others(24): Show CGTATATTATATATAATACATATATATAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 NA19078.hp2 HG02083.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0280 a0001c0002t0003g0338 a0001c0002t0003g0280 a0001c0002t0003g0338	2	366	0.0055	31	c.-12 others(42): Show c.-1234_-1204dupATATTATATATATGTATTATATATAATATAC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1080		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169371	A A	ATGTATAT others(24): Show ATGTATATTATATATTATATATAATATTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 NA18995.hp1 HG02735.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0003 a0001c0001t0005 a0001c0002t0003	a0001c0001t0005g0247 a0001c0002t0003g0329 a0001c0001t0005g0247 a0001c0002t0003g0329	2	366	0.0055	31	c.-12 others(42): Show c.-1264_-1234dupATATAATATTATATATAATATATAATATACA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1110		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169766	A A	ATATATTA others(24): Show ATATATTATATAATATATTGTATATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	366	0.0027	31	c.-16 others(42): Show c.-1629_-1628insATATATAATATACAATATATTATATAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1505		chr6	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0203 a0001c0001t0058g0203	1	368	0.0027	31	c.92 others(42): Show c.9279_*9280insATATATATATATATATATATATATATTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERHL2_chr22_42548956_42579382	42559229	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0324 a0002c0002t0002g0324	1	432	0.0023	31	c.533 others(46): Show c.533+799_533+800insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERINC1_chr6_122438351_122476807	122441327	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	366	0.0027	31	c.37 others(42): Show c.3716_*3717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding		2023		chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03130.hp1 NA18974.hp1 HG01074.hp2 HG03130.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0066 a0001c0001t0002g0088 a0001c0001t0002g0048 a0001c0001t0002g0066 a0001c0001t0002g0088	3	366	0.0082	31	c.760 others(44): Show c.760-23_760-22insATATATATATATATATATTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	366	0.0027	31	c.760 others(44): Show c.760-23_760-22insATATATATATATATATATATTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERPIND1_chr22_20769113_20792720	20780775	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	412	0.0024	31	c.889 others(46): Show c.889+590_889+591insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SERPIND1	ENSG00000099937.11	transcript	ENST00000215727.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
SETD1B_chr12_121799009_121837656	121835008	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0014 a0014	a0014c0049 a0014c0049	a0014c0049t0001 a0014c0049t0001	a0014c0049t0001g0116 a0014c0049t0001g0116	1	262	0.0038	31	c.47 others(42): Show c.4769_*4770insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		2353		chr12	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01496.hp1 HG01515.hp2 others(6): Show HG01069.hp2 HG01496.hp1 HG01515.hp2 HG02698.hp1 HG03130.hp2 NA18952.hp1 NA18968.hp2 NA19079.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0137	9	290	0.0310	31	c.676 others(48): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18980.hp1 HG04228.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0243 a0001c0002t0002g0141 a0001c0001t0001g0243 a0001c0002t0002g0141	2	344	0.0058	31	c.495 others(46): Show c.495+274_495+275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31612392	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0055 a0002c0002t0005g0055	1	322	0.0031	31	c.249 others(48): Show c.2490+552_2490+553insTATATATATATATATATATATATATATA TAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02109.hp1 HG03486.hp1 others(1): Show HG01070.hp2 HG02109.hp1 HG03486.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0050 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0052	4	328	0.0122	31	c.124 others(48): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	318	0.0031	31	c.240 others(50): Show c.2409-2671_2409-2670insATATATATATATATATATATATATAT ATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17			chr12	TogoVar
SFXN5_chr2_72937036_73076712	73047245	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02074.hp2 NA19011.hp2 HG00642.hp1 HG02074.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0133 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0133	3	250	0.0120	31	c.172 others(48): Show c.172-6315_172-6314insGTGTATATATATATATATATATATATAT ATT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73059033	C C	CCAGCTCT others(24): Show CCAGCTCTGCCTCCAGGGGGGATCCCCAAGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG01109.hp1 others(17): Show HG00735.hp1 HG01099.hp2 HG01109.hp1 HG01243.hp2 HG01261.hp2 HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02572.hp2 HG02630.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009	a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 others(7): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0003t0006 a0001c0003t0017 a0001c0004t0005 a0001c0006t0007 a0001c0009t0004	a0001c0002t0002g0023 a0001c0002t0002g0028 a0001c0002t0002g0029 others(17): Show a0001c0002t0002g0023 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0093 a0001c0002t0003g0017 a0001c0002t0003g0021 a0001c0002t0003g0030 a0001c0002t0008g0027 a0001c0002t0009g0011 a0001c0002t0012g0018 a0001c0002t0012g0091 a0001c0003t0006g0016 a0001c0003t0006g0019 a0001c0003t0006g0020 a0001c0003t0006g0022 a0001c0003t0017g0024 a0001c0004t0005g0092 a0001c0006t0007g0025 a0001c0009t0004g0026	20	250	0.0800	31	c.103 others(46): Show c.103-468_103-438dupCCCTTGGGGATCCCCCCTGGAGGCAGAGCT G	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	1/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0093	1	150	0.0067	31	c.192 others(48): Show c.192+5570_192+5571insATATATATATATATATATATATATATAT ATA	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8			chr5	TogoVar
SGCD_chr5_156322164_156772788	156737830	T T	TGCTAGTC others(24): Show TGCTAGTCCAACCCTCTCATTGTATACAGGAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp2 HG02083.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0038 a0001c0001t0001 a0001c0001t0038	a0001c0001t0001g0122 a0001c0001t0038g0044 a0001c0001t0001g0122 a0001c0001t0038g0044	2	150	0.0133	31	c.576 others(50): Show c.576-19750_576-19720dupGCTAGTCCAACCCTCTCATTGTATAC AGGAG	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCG_chr13_23175979_23330162	23314408	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0140 a0001c0001t0007g0140	1	354	0.0028	31	c.579 others(48): Show c.579-6229_579-6228insTATATATATATATATATATATATATATA TAT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7			chr13	TogoVar
SGCZ_chr8_14079845_15243431	14146890	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0070 a0002c0002t0007g0070	1	102	0.0098	31	c.547 others(50): Show c.547+17689_547+17690insATTATTATTATTATTATTTTTTTTTT TTTTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	5/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14551480	T T	TATAATAT others(24): Show TATAATATATATTATATATATTATATATAATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	102	0.0098	31	c.234 others(48): Show c.234+3251_234+3252insTATTATATATAATATATATAATATATAT TAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14821076	A A	AACCCACT others(24): Show AACCCACTAACTCTGATCTTAAAAAAATAAGG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	102	0.0098	31	c.40- others(50): Show c.40-266151_40-266150insCCTTATTTTTTTAAGATCAGAGTTAG TGGGT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66643097	A A	ACAACTGG others(24): Show ACAACTGGGGAAATGGTGGGTACTGAGCTGTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp2 HG02451.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0206 a0001c0001t0004g0205 a0001c0001t0002g0206 a0001c0001t0004g0205	2	302	0.0066	31	c.283 others(46): Show c.283+234_283+235insAACTGGGGAAATGGTGGGTACTGAGCTGTC C	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66643097	A A	ACAACTGT others(24): Show ACAACTGTGGAAATGGTGGGTACTGAGCTGTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0004 a0001c0007 others(12): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0013 a0001c0014 a0002c0002 a0002c0003 a0002c0006 a0004c0009 a0005c0010 a0006c0016 a0007c0015 a0008c0011 a0009c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(76): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0004t0001 a0001c0004t0025 a0001c0004t0061 a0001c0007t0004 a0001c0008t0002 a0001c0013t0004 a0001c0014t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0011 a0002c0002t0013 a0002c0002t0021 a0002c0002t0022 a0002c0002t0024 a0002c0002t0026 a0002c0002t0037 a0002c0002t0038 a0002c0002t0044 a0002c0002t0048 a0002c0002t0049 a0002c0002t0050 a0002c0002t0057 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0025 a0002c0003t0033 a0002c0003t0034 a0002c0003t0051 a0002c0003t0053 a0002c0003t0054 a0002c0003t0058 a0002c0006t0002 a0002c0006t0007 a0004c0009t0001 a0005c0010t0013 a0006c0016t0023 a0007c0015t0001 a0008c0011t0035 a0009c0017t0002	a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0066 others(263): Show a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0096 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0143 a0001c0001t0002g0191 a0001c0001t0002g0264 a0001c0001t0002g0278 a0001c0001t0002g0291 a0001c0001t0002g0298 a0001c0001t0003g0025 a0001c0001t0003g0037 a0001c0001t0003g0068 a0001c0001t0003g0074 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0197 a0001c0001t0004g0002 a0001c0001t0004g0019 a0001c0001t0006g0251 a0001c0001t0007g0051 a0001c0001t0007g0056 a0001c0001t0007g0115 a0001c0001t0007g0182 a0001c0001t0008g0157 a0001c0001t0008g0158 a0001c0001t0008g0159 a0001c0001t0008g0160 a0001c0001t0008g0161 a0001c0001t0008g0162 a0001c0001t0010g0023 a0001c0001t0010g0024 a0001c0001t0010g0028 a0001c0001t0010g0047 a0001c0001t0010g0050 a0001c0001t0011g0165 a0001c0001t0011g0255 a0001c0001t0012g0101 a0001c0001t0012g0102 a0001c0001t0012g0104 a0001c0001t0012g0105 a0001c0001t0012g0106 a0001c0001t0014g0071 a0001c0001t0014g0131 a0001c0001t0014g0137 a0001c0001t0014g0142 a0001c0001t0016g0038 a0001c0001t0016g0147 a0001c0001t0016g0153 a0001c0001t0017g0033 a0001c0001t0017g0034 a0001c0001t0017g0052 a0001c0001t0021g0048 a0001c0001t0022g0184 a0001c0001t0023g0113 a0001c0001t0024g0001 a0001c0001t0026g0207 a0001c0001t0027g0090 a0001c0001t0027g0091 a0001c0001t0028g0258 a0001c0001t0028g0302 a0001c0001t0032g0098 a0001c0001t0036g0238 a0001c0001t0039g0073 a0001c0001t0040g0041 a0001c0001t0041g0297 a0001c0001t0042g0007 a0001c0001t0043g0194 a0001c0001t0045g0006 a0001c0001t0046g0072 a0001c0001t0047g0039 a0001c0001t0052g0201 a0001c0001t0055g0170 a0001c0001t0056g0267 a0001c0001t0059g0103 a0001c0001t0060g0167 a0001c0001t0062g0257 a0001c0004t0001g0009 a0001c0004t0001g0014 a0001c0004t0001g0058 a0001c0004t0001g0062 a0001c0004t0001g0088 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0261 a0001c0004t0025g0086 a0001c0004t0061g0008 a0001c0007t0004g0114 a0001c0007t0004g0117 a0001c0007t0004g0118 a0001c0007t0004g0119 a0001c0008t0002g0195 a0001c0008t0002g0196 a0001c0013t0004g0099 a0001c0014t0001g0087 a0002c0002t0001g0116 a0002c0002t0001g0127 a0002c0002t0001g0252 a0002c0002t0001g0275 a0002c0002t0001g0289 a0002c0002t0002g0139 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0166 a0002c0002t0003g0198 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0248 a0002c0002t0003g0260 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0268 a0002c0002t0003g0272 a0002c0002t0003g0273 a0002c0002t0003g0274 a0002c0002t0003g0276 a0002c0002t0003g0277 a0002c0002t0003g0279 a0002c0002t0003g0281 a0002c0002t0003g0284 a0002c0002t0003g0285 a0002c0002t0003g0287 a0002c0002t0003g0290 a0002c0002t0003g0292 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0003g0296 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0004g0108 a0002c0002t0004g0120 a0002c0002t0004g0121 a0002c0002t0004g0123 a0002c0002t0004g0124 a0002c0002t0004g0125 a0002c0002t0004g0199 a0002c0002t0004g0200 a0002c0002t0009g0011 a0002c0002t0009g0012 a0002c0002t0009g0013 a0002c0002t0009g0017 a0002c0002t0009g0135 a0002c0002t0009g0259 a0002c0002t0011g0250 a0002c0002t0011g0253 a0002c0002t0011g0256 a0002c0002t0013g0241 a0002c0002t0013g0247 a0002c0002t0021g0299 a0002c0002t0022g0254 a0002c0002t0024g0122 a0002c0002t0026g0249 a0002c0002t0037g0111 a0002c0002t0038g0269 a0002c0002t0044g0126 a0002c0002t0048g0280 a0002c0002t0049g0288 a0002c0002t0050g0295 a0002c0002t0057g0286 a0002c0003t0003g0145 a0002c0003t0003g0150 a0002c0003t0003g0151 a0002c0003t0004g0154 a0002c0003t0004g0155 a0002c0003t0004g0204 a0002c0003t0005g0129 a0002c0003t0005g0130 a0002c0003t0005g0136 a0002c0003t0025g0133 a0002c0003t0033g0262 a0002c0003t0034g0156 a0002c0003t0051g0112 a0002c0003t0053g0144 a0002c0003t0054g0190 a0002c0003t0058g0214 a0002c0006t0002g0212 a0002c0006t0007g0208 a0002c0006t0007g0209 a0002c0006t0007g0210 a0002c0006t0007g0211 a0004c0009t0001g0192 a0004c0009t0001g0193 a0005c0010t0013g0242 a0005c0010t0013g0243 a0006c0016t0023g0097 a0007c0015t0001g0110 a0008c0011t0035g0149 a0009c0017t0002g0010	266	302	0.8808	31	c.283 others(46): Show c.283+234_283+235insAACTGTGGAAATGGTGGGTACTGAGCTGTC C	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660043	G G	GAAGGAAG others(24): Show GAAGGAAGGAAGGAAGGAAAGAAAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02165.hp1 HG03209.hp1 others(7): Show HG00099.hp1 HG02165.hp1 HG03209.hp1 HG03225.hp2 HG03688.hp1 NA18948.hp2 NA18950.hp1 NA18972.hp2 NA19058.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0012 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0004t0001 a0001c0004t0061	a0001c0001t0001g0089 a0001c0001t0001g0138 a0001c0001t0001g0172 others(7): Show a0001c0001t0001g0089 a0001c0001t0001g0138 a0001c0001t0001g0172 a0001c0001t0001g0203 a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0012g0105 a0001c0004t0001g0009 a0001c0004t0061g0008	10	302	0.0331	31	c.460 others(46): Show c.460-468_460-467insGGAAGGAAGGAAGGAAAGAAAAAGAAAGAA A	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(24): Show GAAAAGAAAGAAAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03516.hp2 HG02896.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0240 a0001c0001t0002g0226 a0001c0001t0001g0240 a0001c0001t0002g0226	2	250	0.0080	31	c.286 others(50): Show c.286-24983_286-24982insTTCTTTCTCTCTCTCTCTCTTTCTTT CTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(24): Show GAAAAGAAAGAAAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03098.hp2 HG03130.hp2 HG01952.hp1 HG03098.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0080 a0001c0001t0001g0188 a0001c0001t0002g0082 a0001c0001t0001g0080 a0001c0001t0001g0188 a0001c0001t0002g0082	3	250	0.0120	31	c.286 others(50): Show c.286-24983_286-24982insTTCTCTCTCTCTCTCTCTCTTTCTTT CTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134273592	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	250	0.0040	31	c.70- others(48): Show c.70-11445_70-11444insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	1/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134317204	A A	AGGGGGGG others(24): Show AGGGGGGGTGGGGGGGGGGGGGTATTAGGACT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	250	0.0040	31	c.69+ others(44): Show c.69+187_69+188insAGTCCTAATACCCCCCCCCCCCCACCCCCCC	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	1/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66726801	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02922.hp1 others(2): Show HG02647.hp1 HG02895.hp1 HG02922.hp1 HG03098.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0050 a0001c0002t0002g0057 a0001c0002t0002g0058 others(2): Show a0001c0002t0002g0050 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0003g0020 a0001c0002t0003g0021	5	142	0.0352	31	c.-12 others(52): Show c.-122+13990_-122+13991insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50365255	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG06807.hp1 HG02027.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0037 a0001c0002t0001g0071 a0001c0001t0002g0037 a0001c0002t0001g0071	2	312	0.0064	31	c.-23 others(52): Show c.-231-20911_-231-20910insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG03225.hp1 HG03453.hp2 HG02083.hp2 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0024 a0001c0001t0047 a0001c0007t0019 a0001c0001t0024 a0001c0001t0047 a0001c0007t0019	a0001c0001t0024g0104 a0001c0001t0047g0064 a0001c0007t0019g0159 a0001c0001t0024g0104 a0001c0001t0047g0064 a0001c0007t0019g0159	3	272	0.0110	31	c.-23 others(42): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SGSM2_chr17_2332501_2386054	2370493	G G	GGCCTCTG others(24): Show GGCCTCTGTGCCCAGCCACCACCCCCATCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00621.hp1 others(48): Show HG00099.hp1 HG00558.hp1 HG00621.hp1 HG01099.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03710.hp1 HG03942.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18952.hp2 NA18954.hp1 NA18973.hp2 NA18979.hp2 NA18990.hp2 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19060.hp2 NA19065.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0017	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0004 a0002c0041 a0002c0046 a0004c0011 a0009c0021 a0017c0035	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0016 a0001c0003t0019 a0001c0005t0002 a0002c0002t0002 a0002c0002t0023 a0002c0004t0001 a0002c0041t0001 a0002c0046t0020 a0004c0011t0001 a0009c0021t0001 a0017c0035t0001	a0001c0001t0001g0081 a0001c0001t0001g0123 a0001c0001t0002g0022 others(46): Show a0001c0001t0001g0081 a0001c0001t0001g0123 a0001c0001t0002g0022 a0001c0003t0001g0054 a0001c0003t0001g0108 a0001c0003t0001g0194 a0001c0003t0001g0225 a0001c0003t0001g0258 a0001c0003t0001g0294 a0001c0003t0001g0308 a0001c0003t0001g0325 a0001c0003t0001g0338 a0001c0003t0001g0339 a0001c0003t0001g0340 a0001c0003t0001g0353 a0001c0003t0001g0354 a0001c0003t0001g0356 a0001c0003t0001g0360 a0001c0003t0001g0361 a0001c0003t0001g0362 a0001c0003t0001g0373 a0001c0003t0001g0374 a0001c0003t0001g0375 a0001c0003t0001g0379 a0001c0003t0001g0381 a0001c0003t0001g0386 a0001c0003t0001g0387 a0001c0003t0001g0393 a0001c0003t0002g0012 a0001c0003t0002g0113 a0001c0003t0002g0252 a0001c0003t0002g0273 a0001c0003t0002g0274 a0001c0003t0002g0380 a0001c0003t0016g0266 a0001c0003t0019g0352 a0001c0005t0002g0013 a0001c0005t0002g0084 a0001c0005t0002g0272 a0001c0005t0002g0275 a0002c0002t0002g0103 a0002c0002t0023g0139 a0002c0004t0001g0311 a0002c0041t0001g0312 a0002c0046t0020g0159 a0004c0011t0001g0155 a0004c0011t0001g0385 a0009c0021t0001g0174 a0017c0035t0001g0301	51	422	0.1209	31	c.142 others(48): Show c.1424-748_1424-747insCCCCATCCCCGCCTCTGTGCCCAGCCAC CAC	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2B2_chr7_102281868_102326711	102299197	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp2 NA19240.hp1 HG03453.hp1 HG03486.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0255 a0001c0001t0001g0257 a0004c0004t0001g0258 a0001c0001t0001g0255 a0001c0001t0001g0257 a0004c0004t0001g0258	3	406	0.0074	31	c.-29 others(48): Show c.-29-1306_-29-1305insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2D1A_chrX_124341563_124378160	124350370	A A	AATATATA others(24): Show AATATATAATATATAAATATATATTATATACT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19063.hp1 HG03831.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0166 a0001c0001t0002g0249 a0001c0001t0001g0166 a0001c0001t0002g0249	2	318	0.0063	31	c.137 others(48): Show c.137+3731_137+3761dupATATATATTATATACTATATATAATATA TAA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH2D7_chr15_78087561_78109362	78089517	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 NA19082.hp1 HG03927.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0032 a0002c0002t0001g0004 a0002c0002t0001g0032	2	432	0.0046	31	c.-30 others(42): Show c.-3068_-3067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SH2D7	ENSG00000183476.13	transcript	ENST00000328828.6	protein_coding		3043		chr15	TogoVar
SH3D19_chr4_151115281_151330605	151316607	T T	TCCCTTGG others(24): Show TCCCTTGGTATAACTTGGAACAAATTTTTTTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0278 a0002c0003t0003g0278	1	282	0.0036	31	c.112 others(48): Show c.112+8633_112+8634insGAAAAAAATTTGTTCCAAGTTATACCAA GGG	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA19030.hp1 HG01256.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0051 a0001c0002t0001g0051 a0001c0001t0001g0051 a0001c0002t0001g0051	2	376	0.0053	31	c.769 others(48): Show c.769+4402_769+4403insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GL2_chr9_17574066_17802124	17614295	G G	GGAAAAAA others(24): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	260	0.0039	31	c.45+ others(48): Show c.45+35008_45+35009insGAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8			chr9	TogoVar

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