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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SMN1_chr5_70920087_70958015	70954872	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02109.hp2 HG02145.hp1 others(10): Show HG01167.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02486.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0002 a0001c0001t0001 a0001c0001t0002 a0002c0003t0002	a0001c0001t0001g0022 a0001c0001t0002g0003 a0001c0001t0002g0012 others(9): Show a0001c0001t0001g0022 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0002c0003t0002g0033	13	36	0.3611	-31	c.24 others(42): Show c.2438_*2468delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC		SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding					1858		chr5	TogoVar
SMOC1_chr14_69874416_70037366	69959664	ATTGCATA others(24): Show ATTGCATATAGGGATCTATATGCATGGATCCC	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	270	0.0037	-31	c.378 others(48): Show c.378+6162_378+6192delCCTTGCATATAGGGATCTATATGCATGG ATC		SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168469764	GTGCAGCC others(24): Show GTGCAGCCTCGTTAGGAGTGCGTCCTCACCGC	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	180	0.0056	-31	c.84+ others(48): Show c.84+28331_84+28361delGTCCTCACCGCTGCAGCCTCGTTAGGAG TGC		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168599603	ACACACCC others(24): Show ACACACCCACACACACTCATACCACACACACC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	180	0.0056	-31	c.824 others(46): Show c.824+622_824+652delACACACACCCACACCCACACACACTCATAC C		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMUG1_chr12_54175366_54193985	54188267	AAATAATA others(24): Show AAATAATAATAATAATAATAATAATAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(117): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01952.hp1 HG01978.hp2 HG02027.hp2 HG02055.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02683.hp2 HG02735.hp1 HG02965.hp1 HG02970.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18963.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18998.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0008t0017	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(40): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0003g0015 a0001c0001t0003g0117 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0063 a0001c0001t0004g0177 a0001c0001t0004g0185 a0001c0001t0011g0116 a0001c0001t0012g0038 a0001c0001t0012g0182 a0001c0001t0012g0191 a0001c0001t0012g0197 a0001c0001t0017g0181 a0001c0001t0018g0186 a0001c0001t0026g0184 a0001c0001t0027g0180 a0001c0001t0028g0192 a0001c0001t0029g0188 a0001c0008t0017g0178	120	438	0.2740	-31	c.-10 others(48): Show c.-103-396_-103-366delATTTATTATTATTATTATTATTATTATT ATT		SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	1/3						chr12	TogoVar
SMYD3_chr1_245744347_246512279	246251399	AGCTTTAG others(24): Show AGCTTTAGTAGGTGCCTCAGACACTGTGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02615.hp2 HG02132.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0093 a0001c0002t0002g0070 a0001c0001t0001g0093 a0001c0002t0002g0070	2	150	0.0133	-31	c.531 others(50): Show c.531+75771_531+75801delCGGGCACAGTGTCTGAGGCACCTACT AAAGC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251477	TCGGACAC others(24): Show TCGGACACTGTGCCCGGCTTTAGTAGGTGCCG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02559.hp1 HG01081.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0009 a0001c0002t0002g0037 a0001c0002t0001g0009 a0001c0002t0002g0037	2	150	0.0133	-31	c.531 others(50): Show c.531+75693_531+75723delCGGCACCTACTAAAGCCGGGCACAGT GTCCG		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251725	TCGGACAC others(24): Show TCGGACACTGTGCCCGGCTTTAGTAGGTGCCG	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03491.hp1 HG02132.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0054 a0001c0001t0002g0039 a0001c0001t0001g0054 a0001c0001t0002g0039	2	150	0.0133	-31	c.531 others(50): Show c.531+75445_531+75475delCGGCACCTACTAAAGCCGGGCACAGT GTCCG		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251818	GCGGACAC others(24): Show GCGGACACTGTGCCCGGCTTTAGTAGGTGCCT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00597.hp1 others(11): Show HG00140.hp1 HG00544.hp2 HG00597.hp1 HG01081.hp1 HG01934.hp2 HG01975.hp1 HG02004.hp2 HG02027.hp2 HG02109.hp2 HG02273.hp1 HG02300.hp1 HG02559.hp1 HG04228.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0005 a0001c0001t0001g0089 a0001c0001t0002g0004 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0089 a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0043 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0002t0001g0009 a0001c0002t0001g0029 a0001c0002t0001g0041 a0001c0002t0001g0065 a0001c0002t0002g0037 a0001c0002t0002g0078 a0001c0002t0002g0088	14	150	0.0933	-31	c.531 others(50): Show c.531+75352_531+75382delAGGCACCTACTAAAGCCGGGCACAGT GTCCG		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251843	GGTGCCTC others(24): Show GGTGCCTCGGACACTGTGCCCGGCTTTAGTAC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01496.hp1 HG02015.hp2 others(2): Show HG00423.hp2 HG01496.hp1 HG02015.hp2 HG03471.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0005 a0001c0001 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0002c0005t0002	a0001c0001t0001g0006 a0001c0001t0001g0061 a0001c0001t0002g0040 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0061 a0001c0001t0002g0040 a0002c0003t0001g0103 a0002c0005t0002g0115	5	150	0.0333	-31	c.531 others(50): Show c.531+75327_531+75357delGTACTAAAGCCGGGCACAGTGTCCGA GGCAC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246252066	GCGGACAC others(24): Show GCGGACACTGTGCCCGGCTTTAGTAGGTGCCT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0127 a0002c0004t0001g0127	1	150	0.0067	-31	c.531 others(50): Show c.531+75104_531+75134delAGGCACCTACTAAAGCCGGGCACAGT GTCCG		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246252128	TCGGACAC others(24): Show TCGGACACTGTGCCCGGCTTTAGTAGGTGCCG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03831.hp2 HG03579.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0062 a0002c0003t0001g0148 a0001c0002t0001g0062 a0002c0003t0001g0148	2	150	0.0133	-31	c.531 others(50): Show c.531+75042_531+75072delCGGCACCTACTAAAGCCGGGCACAGT GTCCG		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246362455	CTCCCTCT others(24): Show CTCCCTCTCCACGGTCTCCCTCTCCCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp1 HG02886.hp1 others(8): Show HG02258.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03579.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(4): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0018 a0001c0001t0001g0019 a0002c0003t0001g0096 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0002c0003t0001g0096 a0002c0003t0001g0137 a0002c0003t0001g0141 a0002c0003t0002g0095 a0002c0004t0001g0129 a0002c0004t0001g0140 a0002c0004t0002g0139 a0002c0005t0001g0142 a0002c0005t0002g0106	11	150	0.0733	-31	c.165 others(48): Show c.165-7392_165-7362delAAGAGAGGGAGAGGGAGACCGTGGAGAG GGA		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246462177	CGCCTGCT others(24): Show CGCCTGCTGGGTACAGTGCATCCTCCCGCGGG	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02004.hp1 HG02015.hp2 others(14): Show HG01934.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02132.hp1 HG02165.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG03098.hp1 HG04115.hp2 NA18522.hp2 NA18963.hp2 NA18984.hp2 NA19057.hp2 NA19090.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0005t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0093 a0001c0001t0002g0004 a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0002g0010 a0002c0003t0001g0103 a0002c0003t0001g0105 a0002c0003t0002g0114 a0002c0005t0002g0106	17	150	0.1133	-31	c.164 others(50): Show c.164+44846_164+44876delCCCGCGGGAGGATGCACTGTACCCAG CAGGC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246462264	CCGCGGGG others(24): Show CCGCGGGGCCTGCTGGGTACAGTGCATCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00597.hp2 others(59): Show HG00140.hp1 HG00408.hp1 HG00597.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01175.hp2 HG01433.hp1 HG01496.hp2 HG02004.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG04115.hp1 HG04228.hp2 NA18747.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA19000.hp2 NA19030.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(9): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0014 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0017 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0009t0001 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001 a0002c0008t0002 a0002c0017t0001 a0003c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0019 others(59): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0039 a0001c0001t0002g0052 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0085 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0002g0078 a0001c0006t0001g0022 a0001c0006t0001g0048 a0001c0006t0001g0076 a0001c0009t0001g0002 a0001c0014t0002g0091 a0002c0003t0001g0096 a0002c0003t0001g0099 a0002c0003t0001g0101 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0137 a0002c0003t0001g0141 a0002c0003t0002g0095 a0002c0003t0002g0102 a0002c0003t0002g0110 a0002c0003t0002g0143 a0002c0004t0001g0098 a0002c0004t0001g0113 a0002c0004t0001g0117 a0002c0004t0001g0119 a0002c0004t0001g0127 a0002c0004t0001g0129 a0002c0004t0001g0140 a0002c0004t0002g0139 a0002c0005t0001g0136 a0002c0005t0001g0138 a0002c0005t0001g0142 a0002c0005t0002g0118 a0002c0007t0001g0123 a0002c0008t0002g0125 a0002c0017t0001g0122 a0003c0010t0001g0031	62	150	0.4133	-31	c.164 others(50): Show c.164+44759_164+44789delAGAGGATGCACTGTACCCAGCAGGCC CCGCG		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246462283	CAGTGCAT others(24): Show CAGTGCATCCTCTCGCGGGGCCTGCTGGGTAT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18747.hp1 HG03831.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0032 a0001c0002t0001g0062 a0001c0001t0002g0032 a0001c0002t0001g0062	2	150	0.0133	-31	c.164 others(50): Show c.164+44740_164+44770delATACCCAGCAGGCCCCGCGAGAGGAT GCACT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SNAP29_chr22_20854007_20896214	20874318	ACACACAC others(24): Show ACACACACACACACACACACACGAAAATTAGC	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0073 a0001c0002t0073	a0001c0002t0073g0275 a0001c0002t0073g0275	1	382	0.0026	-31	c.434 others(48): Show c.434+3807_434+3837delGAAAATTAGCCACACACACACACACACA CAC		SNAP29	ENSG00000099940.12	transcript	ENST00000215730.12	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr22	TogoVar
SNRPD3_chr22_24550999_24579971	24579495	GAAGGACA others(24): Show GAAGGACATTAAAAGTTATAACTGTGTATTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0169 a0001c0001t0007g0169	1	400	0.0025	-31	c.75 others(42): Show c.7519_*7549delAAGGACATTAAAAGTTATAACTGTGTATTTC		SNRPD3	ENSG00000100028.12	transcript	ENST00000215829.8	protein_coding					4525		chr22	TogoVar
SNRPG_chr2_70276362_70298740	70279676	TTGGGAGG others(24): Show TTGGGAGGCTGAGGCAGGAGAATTGCCTCAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	424	0.0024	-31	c.19 others(42): Show c.1927_*1957delGTTGAGGCAATTCTCCTGCCTCAGCCTCCCA		SNRPG	ENSG00000143977.14	transcript	ENST00000272348.7	protein_coding					1685		chr2	TogoVar
SNTB2_chr16_69182164_69314052	69292366	ATATATAT others(24): Show ATATATATATATATTATATATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0150 a0001c0001t0031g0150	1	218	0.0046	-31	c.134 others(50): Show c.1346-7223_1346-7193delTATATATATATATTATATATATATTA TATAT		SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6						chr16	TogoVar
SNTB2_chr16_69182164_69314052	69292404	ATATTATA others(24): Show ATATTATATATATATTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03540.hp1 HG02717.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0067 a0001c0002t0023g0068 a0001c0002t0023g0067 a0001c0002t0023g0068	2	218	0.0092	-31	c.134 others(50): Show c.1346-7182_1346-7152delTATATATATATTATATATATATATAT ATTAT		SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTG1_chr8_49906407_50801692	50172998	GTCTCTTC others(24): Show GTCTCTTCATGAAGATGGTAACTGGAGTTACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG00741.hp1 others(36): Show HG00280.hp1 HG00621.hp2 HG00741.hp1 HG01071.hp1 HG01167.hp1 HG01167.hp2 HG01978.hp1 HG02055.hp2 HG02300.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 NA18906.hp1 NA18944.hp2 NA18952.hp1 NA18968.hp2 NA18992.hp2 NA19060.hp2 NA19068.hp2 NA19085.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024 a0001c0001t0030 a0001c0001t0032 a0001c0001t0040 a0001c0001t0041 a0001c0001t0048 a0001c0002t0003 a0001c0002t0006 a0001c0002t0010 a0001c0002t0014 a0001c0002t0034 a0001c0002t0036 a0001c0002t0038 a0001c0002t0039 a0001c0002t0047	a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 others(36): Show a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0042 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0004g0079 a0001c0001t0004g0102 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0006g0051 a0001c0001t0006g0066 a0001c0001t0011g0097 a0001c0001t0011g0099 a0001c0001t0013g0009 a0001c0001t0017g0057 a0001c0001t0022g0004 a0001c0001t0024g0058 a0001c0001t0030g0053 a0001c0001t0032g0052 a0001c0001t0040g0005 a0001c0001t0041g0025 a0001c0001t0048g0105 a0001c0002t0003g0008 a0001c0002t0003g0011 a0001c0002t0003g0041 a0001c0002t0006g0064 a0001c0002t0006g0065 a0001c0002t0010g0012 a0001c0002t0014g0014 a0001c0002t0014g0076 a0001c0002t0034g0062 a0001c0002t0036g0016 a0001c0002t0038g0069 a0001c0002t0039g0075 a0001c0002t0047g0103	39	106	0.3679	-31	c.-28 others(46): Show c.-28+364_-28+394delTCTCTTCATGAAGATGGTAACTGGAGTTAC A		SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18						chr8	TogoVar
SNTG1_chr8_49906407_50801692	50259509	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03017.hp1 others(2): Show HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03041.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0002t0003	a0001c0001t0002g0017 a0001c0001t0005g0021 a0001c0001t0009g0100 others(2): Show a0001c0001t0002g0017 a0001c0001t0005g0021 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0002t0003g0041	5	106	0.0472	-31	c.-28 others(50): Show c.-28+86877_-28+86907delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA		SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1219512	TTGCAACT others(24): Show TTGCAACTCTTTACAGGAGGAACTGCTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	190	0.0053	-31	c.719 others(50): Show c.719+10315_719+10345delGCAACTCTTTACAGGAGGAACTGCTT TTTAT		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX14_chr6_85500496_85598858	85519502	CCTGTAGT others(24): Show CCTGTAGTCTTAGCTACTTTGGGAGGCTGAGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	360	0.0028	-31	c.210 others(50): Show c.2108-1485_2108-1455delCCTCAGCCTCCCAAAGTAGCTAAGAC TACAG		SNX14	ENSG00000135317.14	transcript	ENST00000314673.8	protein_coding	21/28						chr6	TogoVar
SNX16_chr8_81794583_81847185	81842535	AAAACGAG others(24): Show AAAACGAGCGAGGGAGAGAGCGAGAGCGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	306	0.0033	-31	c.-54 others(40): Show c.-541_-511delCTCTCGCTCTCGCTCTCTCCCTCGCTCGTTT		SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding					351		chr8	TogoVar
SNX27_chr1_151607050_151704080	151676270	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0053 a0001c0001t0020g0053	1	366	0.0027	-31	c.115 others(50): Show c.1150-7063_1150-7033delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12421904	TCACCAGC others(24): Show TCACCAGCCGTCCATCACCATCATCATCCGTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(34): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00673.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG03017.hp2 HG03490.hp1 HG03491.hp2 HG03710.hp1 HG04115.hp1 NA18942.hp2 NA18950.hp2 NA18969.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19060.hp2 NA19065.hp1 NA19090.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0001c0023 a0001c0024	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(31): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0031 a0001c0001t0041 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0001t0061 a0001c0001t0102 a0001c0002t0003 a0001c0002t0005 a0001c0002t0073 a0001c0002t0075 a0001c0002t0076 a0001c0002t0093 a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 a0001c0003t0011 a0001c0003t0025 a0001c0003t0057 a0001c0003t0060 a0001c0004t0003 a0001c0004t0005 a0001c0004t0023 a0001c0004t0072 a0001c0004t0084 a0001c0004t0095 a0001c0014t0015 a0001c0023t0008 a0001c0024t0038	a0001c0001t0002g0020 a0001c0001t0004g0078 a0001c0001t0008g0137 others(34): Show a0001c0001t0002g0020 a0001c0001t0004g0078 a0001c0001t0008g0137 a0001c0001t0011g0095 a0001c0001t0015g0085 a0001c0001t0031g0143 a0001c0001t0041g0046 a0001c0001t0046g0047 a0001c0001t0047g0155 a0001c0001t0050g0140 a0001c0001t0061g0173 a0001c0001t0102g0001 a0001c0002t0003g0051 a0001c0002t0003g0134 a0001c0002t0005g0002 a0001c0002t0005g0084 a0001c0002t0005g0168 a0001c0002t0073g0096 a0001c0002t0075g0129 a0001c0002t0076g0100 a0001c0002t0093g0086 a0001c0003t0001g0154 a0001c0003t0004g0176 a0001c0003t0006g0144 a0001c0003t0011g0098 a0001c0003t0025g0083 a0001c0003t0057g0105 a0001c0003t0060g0093 a0001c0004t0003g0138 a0001c0004t0005g0115 a0001c0004t0023g0149 a0001c0004t0072g0114 a0001c0004t0084g0135 a0001c0004t0095g0151 a0001c0014t0015g0165 a0001c0023t0008g0110 a0001c0024t0038g0148	37	176	0.2102	-31	c.203 others(52): Show c.2037+18378_2037+18408delCCAGCCGTCCATCACCATCATCAT CCGTCCA		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12476382	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0108 a0007c0016t0108	a0007c0016t0108g0049 a0007c0016t0108g0049	1	176	0.0057	-31	c.203 others(50): Show c.2038-1335_2038-1305delATATATATATATATATATATATATAT ATACA		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12575847	TGTTTTTT others(24): Show TGTTTTTTTTGTTTTTGTTTTTATTTTTTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01993.hp2 NA18969.hp1 others(1): Show HG00558.hp1 HG01993.hp2 NA18969.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0041 a0001c0001t0112 a0001c0001t0014 a0001c0001t0041 a0001c0001t0112	a0001c0001t0014g0099 a0001c0001t0014g0118 a0001c0001t0041g0046 others(1): Show a0001c0001t0014g0099 a0001c0001t0014g0118 a0001c0001t0041g0046 a0001c0001t0112g0139	4	176	0.0227	-31	c.72 others(42): Show c.7219_*7249delGTTTTTTTTGTTTTTGTTTTTATTTTTTTTA		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding					1561		chr16	TogoVar
SNX6_chr14_34556093_34635148	34556801	GAGACAGT others(24): Show GAGACAGTGACAGAGAGAAGAGAGAGACAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02622.hp1 HG02630.hp1 others(3): Show HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG03130.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0035 a0001c0002t0006g0036 a0001c0002t0006g0037 others(3): Show a0001c0002t0006g0035 a0001c0002t0006g0036 a0001c0002t0006g0037 a0001c0002t0006g0038 a0001c0002t0006g0039 a0001c0002t0006g0051	6	322	0.0186	-31	c.62 others(42): Show c.6290_*6320delTTCTGTCTCTCTCTTCTCTCTGTCACTGTCT		SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding					4291		chr14	TogoVar
SNX9_chr6_157818246_157950077	157894942	GGAAGAGA others(24): Show GGAAGAGACCTTCTCTGGTGTGTGCTGAAGAT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0298 a0001c0001t0013g0298	1	302	0.0033	-31	c.301 others(48): Show c.301-1880_301-1850delAGACCTTCTCTGGTGTGTGCTGAAGATG AAG		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
SORCS2_chr4_7187538_7747827	7403977	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02148.hp1 HG02040.hp2 HG02148.hp1	a0002 a0015 a0002 a0015	a0002c0004 a0015c0023 a0002c0004 a0015c0023	a0002c0004t0056 a0015c0023t0008 a0002c0004t0056 a0015c0023t0008	a0002c0004t0056g0134 a0015c0023t0008g0122 a0002c0004t0056g0134 a0015c0023t0008g0122	2	168	0.0119	-31	c.548 others(48): Show c.548+7624_548+7654delATATATATATATATATATATTTTTTTTT TTT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp2 HG03130.hp1 others(4): Show HG02717.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0013	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0006c0010 a0006c0011 a0013c0012	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0002c0004t0001 a0006c0010t0001 a0006c0011t0001 a0013c0012t0001	a0001c0001t0001g0072 a0001c0002t0001g0050 a0001c0003t0002g0010 others(4): Show a0001c0001t0001g0072 a0001c0002t0001g0050 a0001c0003t0002g0010 a0002c0004t0001g0002 a0006c0010t0001g0068 a0006c0011t0001g0069 a0013c0012t0001g0003	7	134	0.0522	-31	c.627 others(50): Show c.627+42849_627+42879delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121593621	CCCTTGTT others(24): Show CCCTTGTTTGGGTGGAGTGCATCCTTCAGTAG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0013 a0001c0067t0013	a0001c0067t0013g0204 a0001c0067t0013g0204	1	272	0.0037	-31	c.437 others(50): Show c.4370-1995_4370-1965delTTGGGTGGAGTGCATCCTTCAGTAGC CTTGT		SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	31/47					INFO_REALIGN_3_PRIME	chr11	TogoVar
SORT1_chr1_109304575_109402918	109378731	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	240	0.0042	-31	c.307 others(48): Show c.307-9173_307-9143delTATATATATATATATATATATATATATA TAT		SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19						chr1	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	412	0.0024	-31	c.21 others(42): Show c.2120_*2150delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding					998		chr3	TogoVar
SOX5_chr12_23524504_23954670	23570921	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0193 a0001c0001t0081g0193	1	212	0.0047	-31	c.134 others(50): Show c.1342+4709_1342+4739delATATATATATATATATATATATTTTT TTTTT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX6_chr11_15961449_16361546	16132318	GGAAGGAA others(24): Show GGAAGGAAGGAAGGAAAGAAAAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0006 a0001c0001t0013g0006	1	218	0.0046	-31	c.778 others(50): Show c.778-20426_778-20396delTTTCTTTCTTTTTTCTTTCCTTCCTT CCTTC		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02145.hp1 HG02615.hp2 others(4): Show HG01106.hp1 HG02145.hp1 HG02615.hp2 HG02922.hp2 HG06807.hp1 NA18906.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0005 a0001c0003 a0002c0002 a0002c0005	a0001c0003t0006 a0001c0003t0012 a0002c0002t0013 others(1): Show a0001c0003t0006 a0001c0003t0012 a0002c0002t0013 a0002c0005t0013	a0001c0003t0006g0046 a0001c0003t0012g0047 a0002c0002t0013g0058 others(4): Show a0001c0003t0006g0046 a0001c0003t0012g0047 a0002c0002t0013g0058 a0002c0005t0013g0036 a0002c0005t0013g0105 a0002c0005t0013g0127 a0002c0005t0013g0288	7	290	0.0241	-31	c.205 others(48): Show c.2053-623_2053-593delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
SP3_chr2_173895775_173970373	173953465	AACTTTGG others(24): Show AACTTTGGGAGGCCCACACCTGTAATCCCAGC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01261.hp1 others(7): Show HG00438.hp2 HG00621.hp1 HG01261.hp1 HG01346.hp2 HG03491.hp1 HG03492.hp2 HG04228.hp2 NA18950.hp1 NA18974.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0033 a0001c0001t0090 a0001c0001t0012 a0001c0001t0033 a0001c0001t0090	a0001c0001t0012g0292 a0001c0001t0012g0293 a0001c0001t0012g0295 others(7): Show a0001c0001t0012g0292 a0001c0001t0012g0293 a0001c0001t0012g0295 a0001c0001t0012g0297 a0001c0001t0012g0298 a0001c0001t0012g0299 a0001c0001t0012g0300 a0001c0001t0033g0066 a0001c0001t0033g0294 a0001c0001t0090g0296	10	356	0.0281	-31	c.163 others(50): Show c.1639+1377_1639+1407delGCTGGGATTACAGGTGTGGGCCTCCC AAAGT		SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6						chr2	TogoVar
SP7_chr12_53321575_53341354	53328521	CTTGCCAT others(24): Show CTTGCCATACACCTTGCCGCAGCCAGGGATGT	C C	frameshift_variant frameshift_variant	HIGH	HG01074.hp1 HG01074.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0110 a0004c0007t0001g0110	1	370	0.0027	-31	c.890 others(38): Show c.890_920delACATCCCTGGCTGCGGCAAGGTGTATGGCAA	p.His others(5): Show p.His297fs	SP7	ENSG00000170374.6	transcript	ENST00000536324.4	protein_coding	3/3	1176/3123	890/1296	297/431			chr12	TogoVar
SPACA7_chr13_112371355_112439689	112383167	AAGAAAGA others(24): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	391	0.0026	-31	c.94+ others(46): Show c.94+6690_94+6720delGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG A		SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG16_chr2_213279464_214415501	214126028	TTCCTTCC others(24): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02922.hp2 others(4): Show HG01891.hp1 HG02559.hp2 HG02922.hp2 HG03225.hp1 NA18522.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 others(1): Show a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 a0004c0004t0001	a0001c0001t0002g0072 a0002c0002t0002g0074 a0003c0003t0002g0042 others(4): Show a0001c0001t0002g0072 a0002c0002t0002g0074 a0003c0003t0002g0042 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0023	7	86	0.0814	-31	c.159 others(52): Show c.1593+17769_1593+17799delCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118178721	TATTCAGT others(24): Show TATTCAGTAAAGTTGCAGGATACAAAATCAAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0067 a0001c0032t0001g0067	1	266	0.0038	-31	c.87+ others(46): Show c.87+6319_87+6349delGTTGATTTTGTATCCTGCAACTTTACTGAA T		SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	1/48						chr1	TogoVar
SPAG4_chr20_35610829_35626094	35615425	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00642.hp1 others(41): Show HG00408.hp1 HG00597.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01346.hp1 HG01433.hp2 HG01952.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02717.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03490.hp2 HG04115.hp2 HG04228.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp2 NA18964.hp2 NA18972.hp1 NA18979.hp2 NA18988.hp2 NA19011.hp1 NA19055.hp2 NA19058.hp2 NA19077.hp2 NA19090.hp2 NA20300.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0001 a0001c0001t0001 a0004c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0038 a0004c0009t0001g0003	44	320	0.1375	-31	c.-57 others(40): Show c.-578_-548delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG		SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding					403		chr20	TogoVar
SPANXD_chrX_141692411_141703739	141700157	ACTGAGCT others(24): Show ACTGAGCTACTTTTCTCTTAATATCAGCCCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0011 a0006c0006t0004g0011	1	334	0.0030	-31	c.-17 others(42): Show c.-1783_-1753delAAGGGCTGATATTAAGAGAAAAGTAGCTCAG		SPANXD	ENSG00000196406.4	transcript	ENST00000370515.3	protein_coding					1419		chrX	TogoVar
SPAST_chr2_32058556_32162637	32110499	AGTATATA others(24): Show AGTATATATAGTATATATATACTATATAGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(181): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0041 others(181): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0223 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0002g0155 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0073 a0001c0001t0003g0188 a0001c0001t0004g0011 a0001c0001t0004g0027 a0001c0001t0004g0030 a0001c0001t0004g0033 a0001c0001t0007g0092 a0001c0001t0007g0093 a0001c0001t0007g0103 a0001c0001t0007g0111 a0001c0001t0007g0163 a0001c0001t0007g0187 a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0009g0070 a0001c0001t0009g0071 a0001c0001t0009g0072 a0001c0001t0010g0077 a0001c0001t0013g0068 a0001c0001t0013g0069 a0001c0001t0013g0341 a0001c0001t0017g0166 a0001c0001t0018g0079 a0001c0001t0020g0184 a0001c0001t0021g0065 a0001c0001t0022g0019 a0001c0001t0027g0122	184	342	0.5380	-31	c.683 others(48): Show c.683-4087_683-4057delCTATATAGTGTGTATATATAGTATATAT ATA		SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24189685	TATATAAT others(24): Show TATATAATATATAATATATTATATATAAAAGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03225.hp2 NA18522.hp1 HG02145.hp2 HG03225.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0038 a0001c0001 a0001c0005 a0003c0038	a0001c0001t0025 a0001c0005t0029 a0003c0038t0091 a0001c0001t0025 a0001c0005t0029 a0003c0038t0091	a0001c0001t0025g0169 a0001c0005t0029g0022 a0003c0038t0091g0168 a0001c0001t0025g0169 a0001c0005t0029g0022 a0003c0038t0091g0168	3	356	0.0084	-31	c.-11 others(52): Show c.-112+28759_-112+28789delATATATAATATATTATATATAAAA GCATATA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190136	ATATATTA others(24): Show ATATATTATTATATAACATATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0348 a0001c0002t0013g0348	1	356	0.0028	-31	c.-11 others(52): Show c.-112+29205_-112+29235delTATATTATTATATAACATATATAT AATATAT		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12						chr13	TogoVar

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