Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPTOR_chr17_80539838_80971368	80744091	C C	CCCTGGTT others(101): Show CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACTGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0131 a0001c0002t0008g0131	1	196	0.0051	108	c.655 others(125): Show c.655-9896_655-9895insCTACTAGCACTGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744097	T T	TTACTAGC others(101): Show TTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0097 a0001c0032t0097	a0001c0032t0097g0053 a0001c0032t0097g0053	1	196	0.0051	108	c.655 others(125): Show c.655-9878_655-9877insTTACGAGCACTGTCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744145	T T	TCCTGGTT others(101): Show TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0011 a0001c0031t0011	a0001c0031t0011g0073 a0001c0031t0011g0073	1	196	0.0051	108	c.655 others(125): Show c.655-9842_655-9841insCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744145	T T	TCCTGGTT others(101): Show TCCTGGTTACTAGCACAGCCCTGGTTACTAGCAGAGCCCTGGTTACTAGC AGAGCCCTGGCTTCTAGCAGAGCCCTGGTTACTAGCACAGCCTTGGTTAC TAGCACAGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0091 a0001c0045t0091	a0001c0045t0091g0036 a0001c0045t0091g0036	1	196	0.0051	108	c.655 others(125): Show c.655-9833_655-9832insGAGCCCTGGTTACTAGCAGAGCCCTGGC TTCTAGCAGAGCCCTGGTTACTAGCACAGCCTTGGTTACTAGCACAGCCC TGGTTACTAGCACAGCCCTGGTTACTAGCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744259	C C	CTACTAGC others(101): Show CTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0006 a0001c0072t0006	a0001c0072t0006g0108 a0001c0072t0006g0108	1	196	0.0051	108	c.655 others(125): Show c.655-9724_655-9723insAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744277	T T	TTGCTAGC others(101): Show TTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTAC AGCCCTGGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03239.hp1 NA19043.hp1 HG01099.hp1 HG03239.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0083 a0001c0086 a0001c0006 a0001c0083 a0001c0086	a0001c0006t0076 a0001c0083t0028 a0001c0086t0004 a0001c0006t0076 a0001c0083t0028 a0001c0086t0004	a0001c0006t0076g0192 a0001c0083t0028g0158 a0001c0086t0004g0172 a0001c0006t0076g0192 a0001c0083t0028g0158 a0001c0086t0004g0172	3	196	0.0153	108	c.655 others(125): Show c.655-9732_655-9731insGCTAGCACTGTCCTGGTTACTAGCAGAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGTACAGCCCTGGCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744289	T T	TCCTGGTT others(101): Show TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0054 a0001c0008t0054	a0001c0008t0054g0169 a0001c0008t0054g0169	1	196	0.0051	108	c.655 others(125): Show c.655-9716_655-9715insTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744315	A A	ACTAGCAC others(101): Show ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAG CCCTGGTTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0012t0003g0121 a0001c0012t0003g0123	2	196	0.0102	108	c.655 others(125): Show c.655-9688_655-9687insTGTCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCT GGTTACGAGCACAGCCCTGGTTGCTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744385	T T	TTACTAGC others(101): Show TTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0023 a0001c0004t0033g0023	1	196	0.0051	108	c.655 others(125): Show c.655-9622_655-9621insTAGCACAGCCCTGGTTACGAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744559	T T	TCCTGGTT others(101): Show TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGC ACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0033 a0001c0032t0033	a0001c0032t0033g0039 a0001c0032t0033g0039	1	196	0.0051	108	c.655 others(125): Show c.655-9442_655-9441insTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744623	T T	TAGCACAG others(101): Show TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCAGAGCCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCC CTGGTTACG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0029 a0001c0011t0029	a0001c0011t0029g0196 a0001c0011t0029g0196	1	196	0.0051	108	c.655 others(125): Show c.655-9383_655-9382insCAGCCCTGGCTACTAGCACTGTCCTGGT TACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCC TGGTTACGAGCACAGCCCTGGTTACGAGCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744680	C C	CACTGTCC others(101): Show CACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTA CTAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCTG GCTACTAGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0074 a0001c0074	a0001c0074t0032 a0001c0074t0032	a0001c0074t0032g0061 a0001c0074t0032g0061	1	196	0.0051	108	c.655 others(125): Show c.655-9328_655-9327insTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTGCTAGCACAGCCCT GGTTACTAGCACAGCCCTGGCTACTAGTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSRC1_chr3_158105089_158550730	158228865	A A	ATGTATAT others(101): Show ATGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGT GTATATGTGTATATAAACACATACGTGTATATGTGTATATAAACACATAC GTGTATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0013 a0003c0005t0013	a0003c0005t0013g0043 a0003c0005t0013g0043	1	276	0.0036	108	c.494 others(127): Show c.494+25634_494+25635insCATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACATACGTGTATATGTGTATATA AACACATACGTGTATATGTGTATATAAACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16785403	T T	TATATATA others(101): Show TATATATATATACATATATACATATATATATACATATATACATATATACA TATATATATACATATATACATATATATACACATATATACATATATATATA CATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0003 a0001c0001t0031g0003	1	190	0.0053	108	c.110 others(125): Show c.110-3320_110-3319insGTATATATGTATATATATATGTATATAT GTGTATATATATGTATATATGTATATATATATGTATATATGTATATATGT ATATATATATGTATATATGTATATATATAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	2/8			chr10	TogoVar
RTEL1_chr20_63653312_63701245	63693462	T T	TTCACCAC others(101): Show TTCACCACCACCACCTCCACCTCCACCACCTCCACCACCACCACCTCCAC CTCCACCACCTCCACCACCTCCACCACCACCACCTCCACCTCCACCACCT CCACCACCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	60	0.0167	108	c.299 others(125): Show c.2992+179_2992+180insTCACCACCACCACCTCCACCTCCACCAC CTCCACCACCACCACCTCCACCTCCACCACCTCCACCACCTCCACCACCA CCACCTCCACCTCCACCACCTCCACCACCA	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34			chr20	TogoVar
RTP5_chr2_241864729_241878823	241876527	C C	CAGGGGCC others(101): Show CAGGGGCCCAACGGCAGGGACGAGGATCCCAGGAGAAACCTCAGTCCAGG TCTCAGGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCC AGGTCTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(97): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02559.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG03130.hp1 HG03195.hp2 HG03492.hp2 HG03669.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18990.hp1 NA18998.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0002 a0005 a0006 others(2): Show a0002 a0005 a0006 a0013 a0023	a0002c0002 a0005c0005 a0006c0006 others(2): Show a0002c0002 a0005c0005 a0006c0006 a0013c0012 a0023c0026	a0002c0002t0001 a0002c0002t0010 a0002c0002t0015 others(11): Show a0002c0002t0001 a0002c0002t0010 a0002c0002t0015 a0002c0002t0018 a0002c0002t0028 a0002c0002t0029 a0002c0002t0031 a0002c0002t0036 a0002c0002t0038 a0005c0005t0005 a0005c0005t0022 a0006c0006t0007 a0013c0012t0013 a0023c0026t0026	a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0014 others(17): Show a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0010g0002 a0002c0002t0015g0002 a0002c0002t0018g0002 a0002c0002t0018g0013 a0002c0002t0028g0002 a0002c0002t0029g0002 a0002c0002t0031g0002 a0002c0002t0036g0002 a0002c0002t0038g0002 a0005c0005t0005g0005 a0005c0005t0022g0005 a0006c0006t0007g0009 a0013c0012t0013g0013 a0023c0026t0026g0002	100	365	0.2740	108	c.32 others(119): Show c.3253_*3254insAGGGGCCCAACGGCAGGGACGAGGATCCCAGGAG AAACCTCAGTCCAGGTCTCAGGGGCCCAACTGCAGGGACGAGGGTCCCAG GGGAAACCCCAATCCAGGTCTCAG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		2705		chr2	TogoVar
RUFY1_chr5_179545554_179615012	179550532	G G	GCGCCCGC others(101): Show GCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCC GCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCA CCCCGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	376	0.0027	108	c.-38 others(115): Show c.-38_-37insCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCC GCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCC GCCCGCCCCCACCCCGCGCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		21		chr5	TogoVar
SARDH_chr9_133658560_133743352	133668938	C C	CTCCCTCT others(101): Show CTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCT CCCTCTCCCCTTACCCTCCCTCTCCCCTCATCCTCCCTCACCCTCCCTCT CCCTCACCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0125 a0002c0005t0003g0125	1	262	0.0038	108	c.249 others(127): Show c.2495+1645_2495+1646insAGGTGAGGGAGAGGGAGGGTGAGGGA GGATGAGGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGA GGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669056	T T	TCTCTCTC others(101): Show TCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTC TCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCT CCCCTCATC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19084.hp1 NA19000.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0002c0005t0003 a0001c0001t0003 a0002c0005t0003	a0001c0001t0003g0251 a0002c0005t0003g0103 a0001c0001t0003g0251 a0002c0005t0003g0103	2	262	0.0076	108	c.249 others(127): Show c.2495+1527_2495+1528insGATGAGGGGAGAGGGAGGGTAAGGGG AGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAG AGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SAXO1_chr9_18922650_19038209	18938605	G G	GAGGATTA others(101): Show GAGGATTACAATTCAACATGAGATTTCATGGGGGCAGAGACCCAAACCCT GTCAGCCATGATTCAGTTTAAGCTGTGGAATACTCACTCTTCTGTAGTTT GAAGAGGAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0146 a0003c0003t0011g0146	1	364	0.0028	108	c.421 others(125): Show c.421+2924_421+3031dupGTCCTCTTCAAACTACAGAAGAGTGAGT ATTCCACAGCTTAAACTGAATCATGGCTGACAGGGTTTGGGTCTCTGCCC CCATGAAATCTCATGTTGAATTGTAATCCT	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	3/3			chr9	TogoVar
SBNO2_chr19_1102638_1179268	1137869	T T	TTCGGGCT others(101): Show TTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGGGTGCGGTGGGGG GAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGGGTGCGGTG GGGGGAGGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	203	0.0049	108	c.279 others(125): Show c.279+9439_279+9440insGCCTCCCCCCACCGCACCCCAGCCCGAG CCTCCCCCCACCGCACCCCAGCCCGAGCCTCCCCCCACCGCACCCCAGCC CGAGCCTCCCCCCACCGCACCCCAGCCCGA	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1157889	T T	TCTCTCTC others(101): Show TCTCTCTCCTGAGTCCGGATAACTGTCCGCCTCCCAGCTCTCTCCTGAGT CCGGATAACTGTCCGCCTCCCAGCTCTCTCCTGAGTCCGGATAACTGTCC GCCTCCCAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG02630.hp2 others(1): Show HG01243.hp1 HG02559.hp1 HG02630.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0018 a0001c0035 others(1): Show a0001c0006 a0001c0018 a0001c0035 a0001c0038	a0001c0006t0001 a0001c0018t0001 a0001c0035t0001 others(1): Show a0001c0006t0001 a0001c0018t0001 a0001c0035t0001 a0001c0038t0001	a0001c0006t0001g0157 a0001c0018t0001g0154 a0001c0035t0001g0158 others(1): Show a0001c0006t0001g0157 a0001c0018t0001g0154 a0001c0035t0001g0158 a0001c0038t0001g0153	4	203	0.0197	108	c.-12 others(127): Show c.-126-3595_-126-3488dupCTGGGAGGCGGACAGTTATCCGGACT CAGGAGAGAGCTGGGAGGCGGACAGTTATCCGGACTCAGGAGAGAGCTGG GAGGCGGACAGTTATCCGGACTCAGGAGAGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(101): Show ATACATATATATATATATATATATATATATATACATATATATATATATAT ATATACATATATATATATATATATACGTATATATATATACATATATATAT ATATATACG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	210	0.0048	108	c.233 others(125): Show c.233-6844_233-6843insCGTATATATATATATATATGTATATATA TATACGTATATATATATATATATATGTATATATATATATATATATATGTA TATATATATATATATATATATATATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(101): Show ATACATATATATATATATATATATATATATATATATATACATATATATAT ATATATACACATATATATATATATACGTATATATATATACATATATATAT ATATATACG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	210	0.0048	108	c.233 others(125): Show c.233-6844_233-6843insCGTATATATATATATATATGTATATATA TATACGTATATATATATATATGTGTATATATATATATATATGTATATATA TATATATATATATATATATATATATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCNN1B_chr16_23297302_23386294	23379110	T T	TCCACCCA others(101): Show TCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCA CCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTC TCCATTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02615.hp2 others(4): Show HG02055.hp1 HG02145.hp2 HG02615.hp2 HG03453.hp2 HG03540.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0137 a0001c0001t0001g0268 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0137 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0280 a0001c0001t0001g0282	7	306	0.0229	108	c.146 others(125): Show c.1466+352_1466+459dupACACCCAGCCATCCTCCACTCATTCATC CTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTC CATCATCCACCTCTCCATTCTCCCACCCAC	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288275	C C	CCGTGTCT others(101): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0044 a0002c0003t0001g0044	1	290	0.0035	108	c.166 others(125): Show c.1662+239_1662+240insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288275	C C	CCGTGTCT others(101): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0114 a0002c0003t0004g0114	1	290	0.0035	108	c.166 others(125): Show c.1662+239_1662+240insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCGTGTCC others(101): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	290	0.0035	108	c.166 others(125): Show c.1662+421_1662+422insGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288549	C C	CCGTGTCT others(101): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCTGTCCCGTGTCT CTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0028 a0028	a0028c0038 a0028c0038	a0028c0038t0003 a0028c0038t0003	a0028c0038t0003g0283 a0028c0038t0003g0283	1	290	0.0035	108	c.166 others(125): Show c.1662+513_1662+514insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCTGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288627	C C	CCGTGTCT others(101): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0114 a0002c0003t0004g0114	1	290	0.0035	108	c.166 others(125): Show c.1662+591_1662+592insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288793	C C	CCGTGTCT others(101): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0155 a0003c0004t0003g0155	1	290	0.0035	108	c.166 others(125): Show c.1662+757_1662+758insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288923	C C	CCCCGTGT others(101): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0054 a0002c0003t0001g0054	1	290	0.0035	108	c.166 others(125): Show c.1662+894_1662+895insTCTGCTCCGTCCCGTGTCCCTGCCCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289337	C C	CCGTGTCT others(101): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0210 a0001c0009t0001g0210	1	290	0.0035	108	c.166 others(125): Show c.1663-933_1663-932insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289395	C C	CCGTGTCT others(101): Show CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0111 a0002c0003t0004g0111	1	290	0.0035	108	c.166 others(125): Show c.1663-875_1663-874insGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289747	C C	CCGTGTCT others(101): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0234 a0001c0001t0005g0234	1	290	0.0035	108	c.166 others(125): Show c.1663-523_1663-522insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289785	C C	CCGTGTCT others(101): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCC CTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	290	0.0069	108	c.166 others(125): Show c.1663-485_1663-484insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTGCTCCGTCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290137	T T	TCTGCTCC others(101): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	290	0.0035	108	c.166 others(125): Show c.1663-104_1663-103insCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23193808	G G	GCCCTGGG others(101): Show GCCCTGGGGATTATTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0224 a0001c0017t0002g0224	1	320	0.0031	108	c.810 others(123): Show c.810-345_810-344insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCTGGGGATTATTTTCT	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCYL1_chr11_65520083_65543704	65540703	C C	CGGGCGGG others(101): Show CGGGCGGGGCCTACAGGAGGGGCGGGGCCTACAGGAGGGGCGGGGCCTAC AGGAGGGGCGGGGCCTACAGGAGGGGCGGGGCCTACAGGAGGGGCGGGGC CTACAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA19074.hp1 NA18989.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0043 a0001c0001t0001g0007 a0001c0001t0001g0043	2	278	0.0072	108	c.21 others(119): Show c.2137_*2138insGGGCGGGGCCTACAGGAGGGGCGGGGCCTACAGG AGGGGCGGGGCCTACAGGAGGGGCGGGGCCTACAGGAGGGGCGGGGCCTA CAGGAGGGGCGGGGCCTACAGGAG	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		2000		chr11	TogoVar
SDCCAG8_chr1_243251041_243505091	243338980	A A	AGACCTCA others(101): Show AGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGG CAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAG TGGGCAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01261.hp2 HG01952.hp1 others(15): Show HG01257.hp2 HG01261.hp2 HG01952.hp1 HG02109.hp2 HG02572.hp1 HG02683.hp2 HG02818.hp2 HG02922.hp1 HG03490.hp1 HG03540.hp2 HG03579.hp2 NA18970.hp1 NA18971.hp1 NA18994.hp2 NA19009.hp2 NA19065.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0040 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0137 a0001c0001t0001g0161 a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0002t0001g0015 a0001c0002t0002g0086 a0001c0002t0002g0095 a0001c0002t0002g0112 a0002c0003t0001g0160 a0002c0003t0001g0169 a0002c0003t0001g0170	18	189	0.0952	108	c.122 others(127): Show c.1222-2002_1222-1895dupCCTCAGAAAGTGGGGTGGGCGGCAGG AGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGG CAGGAGGGAGCAGACAGCTAGTGGGCAGAGGA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13848526	A A	AGAAGAAG others(101): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGGAGCAGGAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAA GAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	324	0.0031	108	c.95 others(117): Show c.958_*959insCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTGCTCCTGCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		720		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848544	A A	AGAAGAAG others(101): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGGAGCAGGAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAA GAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	324	0.0031	108	c.94 others(117): Show c.940_*941insCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTGCTCCTGCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		702		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848619	A A	AGAAGAAG others(101): Show AGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	324	0.0031	108	c.86 others(117): Show c.865_*866insCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTT CCTCTTCCTCTTCTTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		627		chr20	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(101): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAA GAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA19076.hp1 HG01517.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0054 a0001c0001t0018g0121 a0001c0001t0003g0054 a0001c0001t0018g0121	2	276	0.0073	108	c.453 others(127): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(101): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAGAAAGAAAGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAA GAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	276	0.0036	108	c.453 others(127): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCTTCCTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(101): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19007.hp2 NA19054.hp2 HG02280.hp2 NA19007.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0173 a0001c0001t0001g0254 a0001c0001t0007g0236 a0001c0001t0001g0173 a0001c0001t0001g0254 a0001c0001t0007g0236	3	276	0.0109	108	c.453 others(127): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(101): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	276	0.0036	108	c.453 others(127): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCCTTCCTTCCTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(101): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	276	0.0036	108	c.453 others(127): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(101): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	276	0.0036	108	c.453 others(127): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77300706	C C	CCGCCCCC others(101): Show CCGCCCCCATCCCAGCTCAAACCGCCCCCATCCCAGGCTCAAAGCGCCCC CATCCCAGCTCAAAGCGCCCCCATCCCAGGCTCAAAGTGCCCCCATCCCA GGCTCAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	150	0.0067	108	c.20- others(123): Show c.20-6427_20-6426insTCCCAGCTCAAACCGCCCCCATCCCAGGCT CAAAGCGCCCCCATCCCAGCTCAAAGCGCCCCCATCCCAGGCTCAAAGTG CCCCCATCCCAGGCTCAAAGCGCCCCCA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar

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