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
SAMHD1_chr20_36885229_36956708	36890398	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp2 HG03831.hp1 HG04199.hp2 others(1): Show HG03704.hp2 HG03831.hp1 HG04199.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0166 a0001c0001t0022g0167 a0001c0001t0022g0173 others(1): Show a0001c0001t0022g0166 a0001c0001t0022g0167 a0001c0001t0022g0173 a0001c0001t0022g0179	4	340	0.0118	29	c.25 others(40): Show c.2533_*2534insAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2533		chr20	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03710.hp2 HG01934.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0001 a0001c0002t0012	a0001c0002t0001g0050 a0001c0002t0012g0044 a0001c0002t0001g0050 a0001c0002t0012g0044	2	350	0.0057	29	c.870 others(46): Show c.870-3532_870-3504dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	414	0.0024	29	c.-20 others(38): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02486.hp1 HG01081.hp1 HG02486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0004 a0003c0006t0004 a0001c0001t0004 a0003c0006t0004	a0001c0001t0004g0261 a0003c0006t0004g0262 a0001c0001t0004g0261 a0003c0006t0004g0262	2	360	0.0056	29	c.995 others(44): Show c.995-649_995-648insAAAAAAAAAAAAATATATATATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0260 a0001c0001t0004g0260	1	360	0.0028	29	c.995 others(44): Show c.995-649_995-648insAAAAAAAAAAAAAAATATATATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SART1_chr11_65956734_65985137	65970964	T T	TGAGCTGA others(22): Show TGAGCTGAGGAGGGGGATGGTGGGATTCAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0069 a0001c0004t0007g0069	1	384	0.0026	29	c.157 others(48): Show c.1572+3171_1572+3172insGGAGCTGAGGAGGGGGATGGTGGGAT TCA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971057	G G	GGAGCTGA others(22): Show GGAGCTGAGGAGGGGGATGGTGGGATTCAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0120 a0002c0001t0001g0120	1	384	0.0026	29	c.157 others(48): Show c.1572+3272_1572+3300dupAGGAGGGGGATGGTGGGATTCATGAG CTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971176	G G	GGAGCTGA others(22): Show GGAGCTGAGGAGGGGGATGGTGGGATTCAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0160 a0001c0005t0001g0160	1	384	0.0026	29	c.157 others(48): Show c.1572+3355_1572+3356insGAGCTGAGGAGGGGGATGGTGGGATT CAT	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SART1_chr11_65956734_65985137	65971177	A A	AAGCTGAG others(22): Show AAGCTGAGGAGGGGGATGGTGGGATTCATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp1 others(44): Show HG00099.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01192.hp1 HG01257.hp1 HG02004.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02523.hp1 HG02523.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18954.hp2 NA18975.hp2 NA18988.hp1 NA18988.hp2 NA18999.hp1 NA19003.hp2 NA19010.hp2 NA19060.hp2 NA19066.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA20752.hp1 NA20752.hp2	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0001 a0002c0011 a0004c0009 others(1): Show a0002c0001 a0002c0011 a0004c0009 a0008c0013	a0002c0001t0001 a0002c0001t0018 a0002c0011t0001 others(2): Show a0002c0001t0001 a0002c0001t0018 a0002c0011t0001 a0004c0009t0001 a0008c0013t0001	a0002c0001t0001g0001 a0002c0001t0001g0005 a0002c0001t0001g0006 others(29): Show a0002c0001t0001g0001 a0002c0001t0001g0005 a0002c0001t0001g0006 a0002c0001t0001g0009 a0002c0001t0001g0023 a0002c0001t0001g0024 a0002c0001t0001g0025 a0002c0001t0001g0028 a0002c0001t0001g0071 a0002c0001t0001g0079 a0002c0001t0001g0087 a0002c0001t0001g0090 a0002c0001t0001g0092 a0002c0001t0001g0094 a0002c0001t0001g0097 a0002c0001t0001g0099 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0104 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0126 a0002c0001t0001g0144 a0002c0001t0001g0146 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0018g0098 a0002c0011t0001g0001 a0004c0009t0001g0001 a0008c0013t0001g0089	47	384	0.1224	29	c.157 others(48): Show c.1572+3362_1572+3390dupAGGAGGGGGATGGTGGGATTCATGAG CTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971195	G G	GTGGGATT others(22): Show GTGGGATTCATGAGCTGCTGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03704.hp1 NA18983.hp2 others(5): Show HG02015.hp1 HG03704.hp1 NA18983.hp2 NA19004.hp1 NA19065.hp1 NA19074.hp1 NA19084.hp2 NA19086.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0084 others(3): Show a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0109 a0002c0001t0001g0148	8	384	0.0208	29	c.157 others(48): Show c.1572+3378_1572+3406dupGATTCATGAGCTGCTGAGGAGGGGGA TGG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971317	G G	GTGGGATT others(22): Show GTGGGATTCATGAGCTGCTGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0105 a0002c0001t0001g0105	1	384	0.0026	29	c.157 others(48): Show c.1572+3505_1572+3506insTGAGCTGCTGAGGAGGGGGATGGGAT TCA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971332	T T	TGCTGAGG others(22): Show TGCTGAGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00738.hp1 HG01257.hp2 others(8): Show HG00597.hp2 HG00738.hp1 HG01257.hp2 HG02015.hp1 HG03704.hp1 NA18983.hp2 NA19003.hp1 NA19004.hp1 NA19065.hp1 NA19074.hp1 NA19086.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0081 others(7): Show a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0081 a0002c0001t0001g0082 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0107 a0002c0001t0001g0109 a0002c0001t0001g0148	11	384	0.0287	29	c.157 others(48): Show c.1572+3545_1572+3573dupAGGAGGGGGATGGTGGGATTCATGAG CTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971393	T T	TGCTGAGG others(22): Show TGCTGAGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0250 a0001c0002t0003g0250	1	384	0.0026	29	c.157 others(48): Show c.1572+3577_1572+3605dupAGGAGGGGGATGGTGGGATTCATGAG CTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971457	T T	TGCTGAGG others(22): Show TGCTGAGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0221 a0001c0002t0002g0221	1	384	0.0026	29	c.157 others(48): Show c.1572+3728_1572+3756dupAGGAGGGGGATGGTGGGATTCATGAG CTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SASH1_chr6_148337838_148557044	148387624	C C	CTTCCTTC others(22): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp1 HG02622.hp2 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0014 a0001c0003t0005 a0001c0003t0014	a0001c0003t0005g0122 a0001c0003t0014g0139 a0001c0003t0005g0122 a0001c0003t0014g0139	2	322	0.0062	29	c.157 others(46): Show c.157-2508_157-2507insCCTTCCTTCCTTCCTTCCTTCCTTCCTT T	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387628	C C	CTTCCTTC others(22): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19043.hp2 HG02280.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0116 a0001c0001t0014g0249 a0001c0001t0001g0116 a0001c0001t0014g0249	2	322	0.0062	29	c.157 others(46): Show c.157-2504_157-2503insCCTTCCTTCCTTCCTTCCTTCCTTCCTT T	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387632	C C	CTTCCTTC others(22): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02602.hp2 HG01099.hp1 HG02602.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0003 a0003c0006t0001 a0002c0002t0003 a0003c0006t0001	a0002c0002t0003g0125 a0003c0006t0001g0073 a0002c0002t0003g0125 a0003c0006t0001g0073	2	322	0.0062	29	c.157 others(46): Show c.157-2500_157-2499insCCTTCCTTCCTTCCTTCCTTCCTTCCTT T	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387636	C C	CTTCCTTC others(22): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0010 a0002c0010t0003 a0001c0001t0010 a0002c0010t0003	a0001c0001t0010g0260 a0002c0010t0003g0261 a0001c0001t0010g0260 a0002c0010t0003g0261	2	322	0.0062	29	c.157 others(46): Show c.157-2496_157-2495insCCTTCCTTCCTTCCTTCCTTCCTTCCTT T	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTCT others(22): Show CTTTTTCTTTTTTTTTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00738.hp1 others(49): Show HG00323.hp2 HG00544.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02273.hp1 HG02486.hp2 HG02622.hp1 HG02818.hp1 HG02896.hp1 HG03017.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03688.hp1 HG03710.hp2 NA18947.hp1 NA18952.hp1 NA18960.hp1 NA18966.hp1 NA18969.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp2 NA19003.hp1 NA19009.hp2 NA19012.hp2 NA19056.hp2 NA19058.hp2 NA19082.hp2 NA19088.hp1 NA19240.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0010	a0001c0001 a0001c0003 a0001c0007 others(12): Show a0001c0001 a0001c0003 a0001c0007 a0001c0013 a0002c0002 a0002c0004 a0002c0005 a0002c0010 a0002c0014 a0002c0017 a0002c0025 a0003c0006 a0004c0019 a0006c0012 a0010c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0025 a0001c0001t0027 a0001c0003t0002 a0001c0003t0004 a0001c0003t0010 a0001c0003t0021 a0001c0007t0010 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0015 a0002c0004t0003 a0002c0004t0008 a0002c0005t0006 a0002c0010t0003 a0002c0014t0001 a0002c0017t0003 a0002c0025t0001 a0003c0006t0001 a0003c0006t0002 a0003c0006t0009 a0004c0019t0006 a0006c0012t0002 a0010c0027t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0002g0023 others(49): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0002g0023 a0001c0001t0002g0127 a0001c0001t0002g0174 a0001c0001t0002g0192 a0001c0001t0002g0296 a0001c0001t0004g0050 a0001c0001t0004g0295 a0001c0001t0005g0098 a0001c0001t0005g0247 a0001c0001t0005g0317 a0001c0001t0009g0002 a0001c0001t0009g0004 a0001c0001t0025g0005 a0001c0001t0027g0235 a0001c0003t0002g0185 a0001c0003t0004g0301 a0001c0003t0010g0168 a0001c0003t0021g0303 a0001c0007t0010g0258 a0001c0013t0001g0164 a0002c0002t0001g0118 a0002c0002t0001g0183 a0002c0002t0001g0238 a0002c0002t0001g0297 a0002c0002t0002g0237 a0002c0002t0003g0125 a0002c0002t0003g0190 a0002c0002t0003g0224 a0002c0002t0004g0189 a0002c0002t0004g0200 a0002c0002t0008g0268 a0002c0002t0008g0275 a0002c0002t0015g0291 a0002c0004t0003g0089 a0002c0004t0003g0100 a0002c0004t0008g0255 a0002c0005t0006g0013 a0002c0005t0006g0061 a0002c0005t0006g0161 a0002c0005t0006g0302 a0002c0010t0003g0003 a0002c0014t0001g0195 a0002c0017t0003g0239 a0002c0025t0001g0290 a0003c0006t0001g0077 a0003c0006t0002g0076 a0003c0006t0009g0070 a0004c0019t0006g0074 a0006c0012t0002g0257 a0010c0027t0001g0115	52	322	0.1615	29	c.386 others(46): Show c.386+8676_386+8677insCTTTTTTTTTTTCTTTTTTTTTTTTTTT T	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	322	0.0031	29	c.386 others(46): Show c.386+8686_386+8687insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148524121	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0213 a0002c0005t0006g0213	1	322	0.0031	29	c.121 others(48): Show c.1210-1169_1210-1168insATATATATATATATATATATATATTT TTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAT1_chrX_23778173_23791210	23780476	A A	ATATATAT others(22): Show ATATATATATATATATAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00639.hp2 others(83): Show HG00099.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02148.hp2 HG02155.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG03130.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19064.hp1 NA19068.hp1 NA19075.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0004g0001 a0001c0001t0005g0004 a0001c0001t0007g0002 a0001c0001t0010g0002	86	330	0.2606	29	c.-28 others(40): Show c.-2876_-2875insTATATATATATATATAATATATATATATT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2696		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780490	T T	TAATATAT others(22): Show TAATATATATATATATTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	29	c.-28 others(40): Show c.-2862_-2861insAATATATATATATATTATATATATATATA	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2682		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780490	T T	TAATATAT others(22): Show TAATATATATATATTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	29	c.-28 others(40): Show c.-2862_-2861insAATATATATATATTATATATATATATATA	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2682		chrX	TogoVar
SATL1_chrX_85087284_85248779	85118087	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02602.hp1 HG02451.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0088 a0001c0001t0001g0103	2	232	0.0086	29	c.-31 others(48): Show c.-312-8808_-312-8807insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBF2_chr11_9773668_10299219	9835631	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02683.hp1 HG01884.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0218 a0001c0001t0007g0188 a0001c0001t0004g0218 a0001c0001t0007g0188	2	224	0.0089	29	c.345 others(48): Show c.3456-3212_3456-3211insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	26/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0194 a0001c0012t0005g0194	1	224	0.0045	29	c.56- others(44): Show c.56-2880_56-2879insAAAAATATATATATATATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01070.hp1 HG01071.hp2 HG01168.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0155 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0004g0155 a0001c0003t0004g0157 a0001c0003t0004g0158	3	224	0.0134	29	c.56- others(44): Show c.56-2880_56-2879insAAAAAAAAAAATATATATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK1_chr16_28287525_28328849	28300995	T T	TCTCTTCT others(22): Show TCTCTTCTGGGGCCTCTGTTCACCCAGCCA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0272 a0001c0001t0034g0272	1	384	0.0026	29	c.-8+ others(44): Show c.-8+7696_-8+7724dupCTCTTCTGGGGCCTCTGTTCACCCAGCCA	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0060 a0001c0010t0060	a0001c0010t0060g0130 a0001c0010t0060g0130	1	260	0.0039	29	c.403 others(46): Show c.4039+577_4039+578insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBSPON_chr8_73059543_73098172	73067607	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0302 a0003c0005t0003g0302	1	414	0.0024	29	c.678 others(44): Show c.678-150_678-149insATATATATATATATATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF11_chr12_45914131_45995574	45958770	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0003 a0016c0026t0003	a0016c0026t0003g0275 a0016c0026t0003g0275	1	344	0.0029	29	c.219 others(46): Show c.219+2929_219+2930insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	3/14			chr12	TogoVar
SCAF1_chr19_49637209_49663642	49660028	C C	CACACACA others(22): Show CACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	382	0.0026	29	c.16 others(40): Show c.1629_*1630insACACACACACACACACACACACACACACA	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1387		chr19	TogoVar
SCAF8_chr6_154728416_154839221	154831703	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	282	0.0036	29	c.236 others(46): Show c.2360-225_2360-197dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	306	0.0033	29	c.98+ others(46): Show c.98+36510_98+36511insATATATTTTTTTTTTTTTTTTTTTTTTT T	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0305 a0001c0001t0023g0305	1	306	0.0033	29	c.98+ others(46): Show c.98+36510_98+36511insATATATATATATTTTTTTTTTTTTTTTT T	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01993.hp2 HG01257.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0291 a0001c0001t0005g0298 a0001c0001t0005g0291 a0001c0001t0005g0298	2	306	0.0065	29	c.98+ others(46): Show c.98+36510_98+36511insATATATATATATATTTTTTTTTTTTTTT T	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0303 a0001c0001t0022g0303	1	306	0.0033	29	c.98+ others(46): Show c.98+36510_98+36511insATATATATATATATATTTTTTTTTTTTT T	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0283 a0001c0001t0005g0283	1	306	0.0033	29	c.98+ others(46): Show c.98+36510_98+36511insATATATATATATATATATATTTTTTTTT T	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18972.hp1 NA18970.hp2 NA18972.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0084 a0001c0001t0002 a0002c0002t0084	a0001c0001t0002g0289 a0002c0002t0084g0231 a0001c0001t0002g0289 a0002c0002t0084g0231	2	306	0.0065	29	c.98+ others(46): Show c.98+36510_98+36511insATATATATATATATATATATATTTTTTT T	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78404453	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0167 a0002c0003t0007g0167	1	332	0.0030	29	c.136 others(48): Show c.136-11047_136-11046insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460778	T T	TTCCTTCC others(22): Show TTCCTTCCTTCCTTCCTTTGGTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0142 a0001c0001t0030g0142	1	332	0.0030	29	c.852 others(46): Show c.852+1433_852+1434insTGGTTTCTTTTCTCCTTCCTTCCTTCCT T	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460808	C C	CTCTTTCT others(22): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	332	0.0030	29	c.852 others(46): Show c.852+1446_852+1447insTCTTTCTTTCTTTCTTTCTTTCTTTCTT T	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(22): Show TTTTTTTCTCTTTCTCTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01361.hp2 HG02293.hp2 others(1): Show HG01069.hp2 HG01361.hp2 HG02293.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0032 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0126	4	370	0.0108	29	c.-47 others(40): Show c.-4758_-4757insTTTTTTCTCTTTCTCTCTTTCTTTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0228 a0002c0002t0002g0228	1	312	0.0032	29	c.295 others(50): Show c.2954+16116_2954+16144dupAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76667650	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0193 a0003c0003t0002g0193	1	312	0.0032	29	c.250 others(48): Show c.2509-1862_2509-1861insGTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	20/31			chr15	TogoVar
SCARB1_chr12_124771856_124868864	124837594	A A	AAAAGAAA others(22): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0268 a0001c0003t0002g0268	1	356	0.0028	29	c.127 others(48): Show c.127-19888_127-19887insCTTTTCTTTTCTTTTCTTTTCTTTTC TTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCGB1C2_chr17_132569_144067	141282	G G	GTGGGGAG others(22): Show GTGGGGAGCCTTGGTGAGGGGACCTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01257.hp1 HG03654.hp1 others(4): Show HG00738.hp1 HG01257.hp1 HG03654.hp1 HG03710.hp1 HG03942.hp1 HG04204.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0001 a0001c0001t0002g0004	7	402	0.0174	29	c.23 others(40): Show c.2340_*2341insTGGGGAGCCTTGGTGAGGGGACCTGGTGA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2216		chr17	TogoVar
SCHIP1_chr3_159268244_159902359	159680606	T T	TTATATAT others(22): Show TTATATATAATATATGTATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	100	0.0100	29	c.64- others(46): Show c.64-83830_64-83829insAATATATGTATAATATATATTATATATA T	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159843001	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	100	0.0100	29	c.760 others(48): Show c.760-23134_760-23133insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar

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