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
RNF17_chr13_24759169_24884921	24882133	G G	GATATATA others(97): Show GATATATAGATACATCTATATAGATACATCTATATAGATACATCTATATA GATACATCTATATAGATACATCTATATAGATATATAGATACATCTATATA GATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 NA21309.hp1 HG00639.hp1 NA21309.hp1	a0003 a0007 a0003 a0007	a0003c0006 a0007c0013 a0003c0006 a0007c0013	a0003c0006t0001 a0007c0013t0001 a0003c0006t0001 a0007c0013t0001	a0003c0006t0001g0190 a0007c0013t0001g0344 a0003c0006t0001g0190 a0007c0013t0001g0344	2	426	0.0047	104	c.24 others(115): Show c.2407_*2408insATATATAGATACATCTATATAGATACATCTATAT AGATACATCTATATAGATACATCTATATAGATACATCTATATAGATATAT AGATACATCTATATAGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2213		chr13	TogoVar
RNGTT_chr6_88604897_88968618	88697999	C C	CATATATG others(97): Show CATATATGATATATATATGAAATACATATATATGATATATATATGAAATA CATATATATGATATATATATGAAATACATATATATGATATATATATGAAA TACAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01884.hp2 others(8): Show HG00741.hp1 HG01109.hp2 HG01884.hp2 HG02886.hp1 HG03471.hp1 NA18747.hp1 NA18969.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0084 a0001c0001t0001g0164 a0001c0001t0002g0033 others(8): Show a0001c0001t0001g0084 a0001c0001t0001g0164 a0001c0001t0002g0033 a0001c0001t0002g0217 a0001c0001t0003g0045 a0001c0001t0003g0199 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0007g0201 a0001c0001t0007g0211	11	220	0.0500	104	c.144 others(125): Show c.1440-19684_1440-19581dupATGTATTTCATATATATATCATAT ATATGTATTTCATATATATATCATATATATGTATTTCATATATATATCAT ATATATGTATTTCATATATATATCATATAT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RORA_chr15_60483284_61234302	60816082	G G	GTATACTG others(97): Show GTATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTAT TTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGT ATTTA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0097 a0001c0007t0003g0097	1	118	0.0085	104	c.167 others(125): Show c.167-137500_167-137397dupTAAATACATATACTGTTTACAGTA TATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTACAG TATATAAATACATATACTGTTTACAGTATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60816614	C C	CAGTATAT others(97): Show CAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTA AACAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTG TAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02280.hp2 others(3): Show HG01243.hp2 HG02055.hp2 HG02280.hp2 HG02486.hp2 HG02976.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0046 a0001c0001t0048 others(2): Show a0001c0001t0001 a0001c0001t0046 a0001c0001t0048 a0001c0002t0021 a0001c0003t0015	a0001c0001t0001g0104 a0001c0001t0046g0086 a0001c0001t0048g0022 others(3): Show a0001c0001t0001g0104 a0001c0001t0046g0086 a0001c0001t0048g0022 a0001c0002t0021g0091 a0001c0003t0015g0075 a0001c0003t0015g0077	6	118	0.0509	104	c.167 others(125): Show c.167-137929_167-137928insATTTACAGTATATAAATACATATA CTGTTTACAGTATATAAATACATATACTGTTTACAGTATATAAATACATA TACTGTTTACAGTATATAAATACATATACT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPA3_chr7_7631518_7723607	7678699	T T	TATATTTA others(97): Show TATATTTATATATTTAGTTTATAAATATATATTTATGTATTTAGTTTATA AATATATATTTATGTATTTAGTTTATAAATATATATTTATGTATTTAGTT TATAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	308	0.0033	104	c.-75 others(123): Show c.-758+7130_-758+7131insTTATAAACTAAATACATAAATATATA TTTATAAACTAAATACATAAATATATATTTATAAACTAAATACATAAATA TATATTTATAAACTAAATATATAAATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	242574	A A	ACCCTTCC others(97): Show ACCCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGA CTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTG ATTAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0112 a0001c0002t0007g0112	1	133	0.0075	104	c.613 others(121): Show c.613+4536_613+4537insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242590	T T	TCCCTTCC others(97): Show TCCCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGA TTCCCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATT GATTA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	133	0.0075	104	c.613 others(121): Show c.613+4520_613+4521insTAATCAATAGAGGAAGGTAATCAATAGA GGAAGGGTAATCAATAGAGGAAGGGAATCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287687	T T	TCTCTCCA others(97): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCAC ACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC ACACC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0071 a0001c0001t0022g0071	1	133	0.0075	104	c.352 others(121): Show c.352-5834_352-5833insGGTGTGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAGAGGGTGTGAGGTCTGACGGTGGAGAGAG AGGGTGCGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287897	A A	ACTCCCTC others(97): Show ACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGA CCTCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0071 a0001c0001t0022g0071	1	133	0.0075	104	c.352 others(121): Show c.352-6044_352-6043insCGAGGTCTGACGGTGGAGAGAGGGAGTG AGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTG CGAGGTCTGACGGTGGAGAGAGGGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287981	T T	TCTCTCTC others(97): Show TCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC GCACG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	133	0.0075	104	c.352 others(121): Show c.352-6128_352-6127insCGTGCGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAG GGTGCGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288431	T T	TCTCTCCA others(97): Show TCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCAC TCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC ACTCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	133	0.0075	104	c.352 others(121): Show c.352-6578_352-6577insGGAGTGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAG AGGGAGTGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	319927	A A	AGGGGGAG others(97): Show AGGGGGAGGGAGACTGAGGGGAGGGAGGGGGAGGTGAGATTGAGGGGAGG GGAGGGGGAGGGGAGACTGAGGAGAGGGAGGGGAGGGAGGACTGAGGGGA TGGAG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0004 a0001c0001t0032g0004	1	133	0.0075	104	c.222 others(119): Show c.222-379_222-378insCTCCATCCCCTCAGTCCTCCCTCCCCTCCC TCTCCTCAGTCTCCCCTCCCCCTCCCCTCCCCTCAATCTCACCTCCCCCT CCCTCCCCTCAGTCTCCCTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPL5_chr1_92827040_92846924	92846867	A A	ATATATAT others(97): Show ATATATATATATACACACGTATATATATATATATATACACACGTATATAT ATATATACACACGTATATATATATACACGTATATATATATACATATATAT ATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	331	0.0030	104	c.50 others(115): Show c.5002_*5003insTATATATATATACACACGTATATATATATATATA TACACACGTATATATATATATACACACGTATATATATATACACGTATATA TATATACATATATATATGTG	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4944		chr1	TogoVar
RPL5_chr1_92827040_92846924	92846867	A A	ATGTATAT others(97): Show ATGTATATATATACACACGTATATATATATATATATACACACGTATATAT ATATATACACACGTATATATATATACACGTATATATATATACATATATAT ATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	331	0.0030	104	c.50 others(115): Show c.5002_*5003insTGTATATATATACACACGTATATATATATATATA TACACACGTATATATATATATACACACGTATATATATATACACGTATATA TATATACATATATATATGTG	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4944		chr1	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(97): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTC TCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18981.hp2 NA19083.hp1 NA18956.hp1 NA18981.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0053 a0001c0001t0004g0063 a0001c0001t0015g0025 a0001c0001t0004g0053 a0001c0001t0004g0063 a0001c0001t0015g0025	3	366	0.0082	104	c.-15 others(115): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(97): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 NA19077.hp1 HG02071.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0144 a0001c0001t0042 a0001c0001t0144	a0001c0001t0042g0024 a0001c0001t0144g0038 a0001c0001t0042g0024 a0001c0001t0144g0038	2	366	0.0055	104	c.-15 others(115): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761902	T T	TTCTTTCT others(97): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCT CTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	366	0.0027	104	c.-15 others(115): Show c.-1535_-1534insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1101		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80565625	C C	CGGAGGGA others(97): Show CGGAGGGAGGCGTGCACTGCTGTGGAGGGGTTAGAGCCCCAGGGCTGGGA GGCGGAGGGAGGCGTGCACTGCTGTGGAGGGGTTAGAGCCCCAGGGCTGG GAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG00741.hp1 others(5): Show HG00099.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01167.hp2 HG02055.hp2 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0025 a0001c0038 a0001c0039 others(4): Show a0001c0025 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043	a0001c0025t0051 a0001c0025t0052 a0001c0038t0007 others(5): Show a0001c0025t0051 a0001c0025t0052 a0001c0038t0007 a0001c0039t0061 a0001c0040t0066 a0001c0041t0004 a0001c0042t0055 a0001c0043t0008	a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0038t0007g0178 others(5): Show a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0038t0007g0178 a0001c0039t0061g0177 a0001c0040t0066g0180 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0043t0008g0176	8	196	0.0408	104	c.162 others(123): Show c.162+19896_162+19897insGTGCACTGCTGTGGAGGGGTTAGAGC CCCAGGGCTGGGAGGTGGAGGGAGGCGTGCACTGCTGTGGAGGGGTTAGA GCCCCAGGGCTGGGAGGCGGAGGGAGGC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSRC1_chr3_158105089_158550730	158229108	G G	GTGTATAT others(97): Show GTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGT GTATATGTGTATATAAACACGTGTATATGTGTATATAAACACATACGTGT ATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0009	1	276	0.0036	104	c.494 others(123): Show c.494+25875_494+25876insCACATACGTGTATATGTGTATATAAA CACACATACGTGTATATGTGTATATAAACACGTGTATATGTGTATATAAA CACATACGTGTATATATGTATATAAACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16722855	T T	TATATACA others(97): Show TATATACATATATGTATATATACACACATATACATATATGTATATATACA CACATATACATATATGTATATATACACACATATACATATATGTATATATA CACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0143 a0001c0001t0006g0143	1	190	0.0053	104	c.599 others(123): Show c.599-27804_599-27701dupGTGTGTATATATACATATATGTATAT GTGTGTATATATACATATATGTATATGTGTGTATATATACATATATGTAT ATGTGTGTATATATACATATATGTATAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16785489	C C	CATATATA others(97): Show CATATATATATACATATATACATATATATATATACACATATATACATATA TATATACACACATATATACATATATACATATATATACACACACATATATA CATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	190	0.0053	104	c.110 others(121): Show c.110-3406_110-3405insATATGTATATATGTGTGTGTATATATAT GTATATATGTATATATGTGTGTATATATATATGTATATATGTGTATATAT ATATATGTATATATGTATATATATAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	2/8			chr10	TogoVar
RTN1_chr14_59590983_59875776	59750212	A A	ATATATAT others(97): Show ATATATATTATATCTATAATATATAATATATATATTATATCTATAATATA TAATATATATATTATATCTATAATATATAATATATATATTATATCTATAA TATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0106 a0001c0003t0001g0106	1	172	0.0058	104	c.242 others(121): Show c.242-3732_242-3731insATATATTATAGATATAATATATATATTA TATATTATAGATATAATATATATATTATATATTATAGATATAATATATAT ATTATATATTATAGATATAATATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(97): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCC CGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0222 a0001c0002t0002g0222	1	376	0.0027	104	c.-58 others(111): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACC CCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACC CCGCGCCCGCCCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(97): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	376	0.0027	104	c.-58 others(111): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCCCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(97): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCG CGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	376	0.0027	104	c.-58 others(111): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCG CCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUNDC3B_chr7_87623398_87837296	87626336	G G	GTATATGT others(97): Show GTATATGTGTCATATATATGTGTCGTATATATGTGTCGTATATATGTGTC GTATATATGTGTCGTATATATGTGTCATATATATGTGTCATATATATGTG TCATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0122 a0001c0001t0007g0122	1	202	0.0050	104	c.-24 others(115): Show c.-2488_-2487insTATATGTGTCATATATATGTGTCGTATATATGTG TCGTATATATGTGTCGTATATATGTGTCGTATATATGTGTCATATATATG TGTCATATATATGTGTCATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2061		chr7	TogoVar
SAT1_chrX_23778173_23791210	23780126	C C	CATATATA others(97): Show CATATATATGTGTATATATATGTGTATATATACACATATATATGTGTATA TATATGTGTATATATACACATATATATGTGTATATATATGTATATATATA TACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	104	c.-32 others(115): Show c.-3226_-3225insATATATATGTGTATATATATGTGTATATATACAC ATATATATGTGTATATATATGTGTATATATACACATATATATGTGTATAT ATATGTATATATATATACCT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3046		chrX	TogoVar
SAV1_chr14_50628580_50673306	50635557	T T	TTGGGAGG others(97): Show TTGGGAGGCTGAGGTGGGAGGCTGAGGTGGGAGGCTGAGGTGGGAGGCTG AGGTGGGAGGCTGAGGTGGGAGGCTGAGGTGGGAGGCTGAGGTGGGAGGC TGAGG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	390	0.0026	104	c.951 others(119): Show c.951-174_951-173insCCTCAGCCTCCCACCTCAGCCTCCCACCTC AGCCTCCCACCTCAGCCTCCCACCTCAGCCTCCCACCTCAGCCTCCCACC TCAGCCTCCCACCTCAGCCTCCCA	SAV1	ENSG00000151748.15	transcript	ENST00000324679.5	protein_coding	4/4			chr14	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(97): Show ATACATATATATATATATATATATATATATATATACATATATATATATAT ATATACATATATATATATATATACGTATATATATATACATATATATATAT ATACG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp1 HG02559.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0072 a0001c0001t0005g0065 a0001c0001t0002g0072 a0001c0001t0005g0065	2	210	0.0095	104	c.233 others(121): Show c.233-6844_233-6843insCGTATATATATATATATGTATATATATA TACGTATATATATATATATATGTATATATATATATATATATGTATATATA TATATATATATATATATATATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCGB1C2_chr17_132569_144067	140983	T T	TGGTGAGG others(97): Show TGGTGAGGGGACATGGGGGGGACCTGGTGAGGGGACATGGTGAGGGGACA TGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGG GGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	402	0.0025	104	c.20 others(115): Show c.2041_*2042insGGTGAGGGGACATGGGGGGGACCTGGTGAGGGGA CATGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGG GGAGCCTTGGTGAGGGGACC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1917		chr17	TogoVar
SCN7A_chr2_166398573_166499249	166414853	T T	TATAATAT others(97): Show TATAATATATAATATATATTATATAGGATAATATATAATATATATTATAT AGGATAATATATAATATATATTATATAGGATAATATATAATATATATTAT ATAGG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18956.hp1 NA18960.hp1 NA18947.hp2 NA18956.hp1 NA18960.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0278 a0004c0004t0005g0283 a0004c0004t0005g0289 a0004c0004t0005g0278 a0004c0004t0005g0283 a0004c0004t0005g0289	3	394	0.0076	104	c.341 others(123): Show c.3415-1733_3415-1732insCCTATATAATATATATTATATATTAT CCTATATAATATATATTATATATTATCCTATATAATATATATTATATATT ATCCTATATAATATATATTATATATTAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43203360	G G	GTATATAT others(97): Show GTATATATATATATTTATATATATATTTATATATATATATTTATATATAT ATTTATATATATATATTTATATATATATTTATATATATATATTTATATAT ATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0043 a0001c0012t0043	a0001c0012t0043g0161 a0001c0012t0043g0161	1	280	0.0036	104	c.63 others(113): Show c.636_*637insAATATATATATAAATATATATATATAAATATATATA TAAATATATATATATAAATATATATATAAATATATATATATAAATATATA TATAAATATATATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	22/22	636		chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(97): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAA GAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	324	0.0031	104	c.92 others(113): Show c.929_*930insTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(97): Show CATATATATATTCCATATATATATTCCATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19011.hp1 NA18942.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0038 a0001c0001t0002g0016 a0001c0001t0002g0038	2	324	0.0062	104	c.115 others(121): Show c.115-2706_115-2705insATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01257.hp2 HG01258.hp1 HG00609.hp2 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0201 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0001g0201 a0001c0001t0007g0186 a0001c0001t0007g0187	3	276	0.0109	104	c.453 others(123): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCCTTCC TTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18977.hp1 NA18984.hp1 others(2): Show NA18975.hp1 NA18977.hp1 NA18984.hp1 NA18990.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0003g0137 others(2): Show a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0003g0137 a0001c0001t0003g0145 a0001c0001t0003g0146	5	276	0.0181	104	c.453 others(123): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02148.hp2 HG01928.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0103 a0001c0001t0003g0104	2	276	0.0073	104	c.453 others(123): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCCTTCC TTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp1 others(1): Show HG00733.hp1 HG01069.hp2 HG01071.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0029 a0001c0001t0001 a0001c0001t0007 a0001c0001t0029	a0001c0001t0001g0255 a0001c0001t0007g0111 a0001c0001t0007g0134 others(1): Show a0001c0001t0001g0255 a0001c0001t0007g0111 a0001c0001t0007g0134 a0001c0001t0029g0025	4	276	0.0145	104	c.453 others(123): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	276	0.0036	104	c.453 others(123): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAAGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18966.hp1 HG01071.hp2 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0012 a0001c0002t0002 a0001c0003t0012	a0001c0002t0002g0262 a0001c0003t0012g0190 a0001c0002t0002g0262 a0001c0003t0012g0190	2	276	0.0073	104	c.453 others(123): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03710.hp2 HG01934.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0200 a0001c0001t0001g0143 a0001c0001t0001g0200	2	276	0.0073	104	c.453 others(123): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169707	G G	GTATATTG others(97): Show GTATATTGTATAATATATTGTATATTGTATAATATATTGTATATTGTATA TTATATAATATATTGTATATTATATGTAATATATTGTATATTATATATTA TATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01192.hp2 others(13): Show HG00140.hp1 HG00323.hp2 HG01192.hp2 HG01243.hp1 HG02145.hp1 HG02257.hp1 HG02602.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG03516.hp1 HG03834.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(13): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0182	16	366	0.0437	104	c.-15 others(115): Show c.-1570_-1569insTTATATAATATATAATATACAATATATTACATAT AATATACAATATATTATATAATATACAATATACAATATATTATACAATAT ACAATATATTATACAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1446		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169707	G G	GTATATTG others(97): Show GTATATTGTATAATATATTGTATATTGTATAATATATTGTATATTGTATA TTATATAATATATTGTATATTATATGTAATATATTGTATATTATATATTA TGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02818.hp1 HG02630.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0166 a0001c0001t0019g0170 a0001c0001t0001g0166 a0001c0001t0019g0170	2	366	0.0055	104	c.-15 others(115): Show c.-1570_-1569insTTACATAATATATAATATACAATATATTACATAT AATATACAATATATTATATAATATACAATATACAATATATTATACAATAT ACAATATATTATACAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1446		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169707	G G	GTATATTG others(97): Show GTATATTGTATAATATATTGTATATTGTATAATATATTGTATATTGTATA TTATGTAATATATTGTATATTATATGTAATATATTGTATATTATATATTA TATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01496.hp2 HG01256.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0165 a0001c0001t0001g0081 a0001c0001t0001g0165	2	366	0.0055	104	c.-15 others(115): Show c.-1570_-1569insTTATATAATATATAATATACAATATATTACATAT AATATACAATATATTACATAATATACAATATACAATATATTATACAATAT ACAATATATTATACAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1446		chr6	TogoVar
SERBP1_chr1_67402810_67435402	67409386	G G	GACACACA others(97): Show GACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACACA CACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0229 a0001c0001t0092g0229	1	368	0.0027	104	c.38 others(115): Show c.3820_*3821insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding	8/8	3820		chr1	TogoVar
SERPINB9_chr6_2882270_2908309	2893191	T T	TATATATA others(97): Show TATATATATATATTATATATACGTATATATATATAATATATATATATTAT ATATACGTATATATATACGTATATATAATATATATATTATATATACGTAT ATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(176): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03098.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0009 others(1): Show a0001c0001 a0002c0002 a0003c0009 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0001t0030 a0001c0001t0033 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0075 a0001c0001t0092 a0001c0001t0094 a0001c0001t0097 a0001c0001t0102 a0001c0001t0105 a0001c0001t0112 a0001c0001t0118 a0001c0001t0122 a0001c0001t0127 a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0137 a0001c0001t0139 a0001c0001t0143 a0001c0001t0154 a0001c0001t0156 a0001c0001t0158 a0001c0001t0160 a0002c0002t0004 a0003c0009t0049 a0008c0011t0003	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(143): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0129 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0311 a0001c0001t0002g0007 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0120 a0001c0001t0002g0141 a0001c0001t0002g0196 a0001c0001t0002g0206 a0001c0001t0002g0233 a0001c0001t0002g0245 a0001c0001t0002g0254 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0282 a0001c0001t0002g0287 a0001c0001t0002g0364 a0001c0001t0003g0030 a0001c0001t0003g0150 a0001c0001t0003g0172 a0001c0001t0003g0226 a0001c0001t0003g0236 a0001c0001t0004g0121 a0001c0001t0004g0249 a0001c0001t0004g0284 a0001c0001t0004g0310 a0001c0001t0004g0386 a0001c0001t0005g0023 a0001c0001t0005g0133 a0001c0001t0005g0162 a0001c0001t0005g0173 a0001c0001t0005g0197 a0001c0001t0005g0251 a0001c0001t0005g0286 a0001c0001t0006g0027 a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0195 a0001c0001t0006g0207 a0001c0001t0006g0277 a0001c0001t0007g0016 a0001c0001t0007g0264 a0001c0001t0007g0281 a0001c0001t0007g0312 a0001c0001t0008g0191 a0001c0001t0008g0240 a0001c0001t0008g0270 a0001c0001t0009g0134 a0001c0001t0010g0138 a0001c0001t0010g0273 a0001c0001t0011g0011 a0001c0001t0011g0190 a0001c0001t0011g0285 a0001c0001t0011g0293 a0001c0001t0013g0022 a0001c0001t0013g0209 a0001c0001t0013g0248 a0001c0001t0013g0272 a0001c0001t0016g0184 a0001c0001t0017g0193 a0001c0001t0017g0297 a0001c0001t0018g0078 a0001c0001t0019g0229 a0001c0001t0020g0250 a0001c0001t0020g0263 a0001c0001t0023g0075 a0001c0001t0023g0076 a0001c0001t0028g0183 a0001c0001t0030g0192 a0001c0001t0033g0132 a0001c0001t0033g0170 a0001c0001t0033g0242 a0001c0001t0038g0279 a0001c0001t0039g0157 a0001c0001t0039g0182 a0001c0001t0041g0147 a0001c0001t0041g0152 a0001c0001t0045g0290 a0001c0001t0046g0189 a0001c0001t0047g0321 a0001c0001t0049g0252 a0001c0001t0050g0143 a0001c0001t0051g0098 a0001c0001t0054g0171 a0001c0001t0054g0266 a0001c0001t0055g0025 a0001c0001t0056g0176 a0001c0001t0056g0256 a0001c0001t0057g0142 a0001c0001t0075g0077 a0001c0001t0092g0095 a0001c0001t0094g0389 a0001c0001t0097g0187 a0001c0001t0102g0291 a0001c0001t0105g0161 a0001c0001t0112g0198 a0001c0001t0118g0260 a0001c0001t0122g0210 a0001c0001t0127g0188 a0001c0001t0130g0274 a0001c0001t0132g0128 a0001c0001t0133g0261 a0001c0001t0134g0185 a0001c0001t0137g0299 a0001c0001t0139g0211 a0001c0001t0143g0253 a0001c0001t0154g0387 a0001c0001t0156g0194 a0001c0001t0158g0119 a0001c0001t0160g0140 a0002c0002t0004g0241 a0003c0009t0049g0385 a0008c0011t0003g0237	179	462	0.3875	104	c.567 others(119): Show c.567+219_567+220insTATATATACGTATATATAATATATATATTA TATATACGTATATATATACGTATATATAATATATATATATTATATATATA TACGTATATATAATATATATATAT	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	5/6			chr6	TogoVar
SETBP1_chr18_44675888_45073510	44721942	C C	CAAATCTT others(97): Show CAAATCTTTGTGGCTTCTGATAATTTGCATATTGTCACTTGTTTGCCAAC TAGAGGGTATCTGGACATGTGTATGTGAGAGGGCATCTGCGTGGACATGC ATGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp2 HG01258.hp1 others(13): Show HG01175.hp2 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02080.hp2 HG02083.hp2 HG02523.hp1 HG03710.hp2 NA19000.hp1 NA19066.hp2 NA19083.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0005 a0001c0012 others(4): Show a0001c0001 a0001c0005 a0001c0012 a0002c0002 a0003c0003 a0004c0004 a0006c0007	a0001c0001t0001 a0001c0001t0006 a0001c0005t0001 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0005t0001 a0001c0005t0002 a0001c0012t0003 a0002c0002t0006 a0003c0003t0001 a0003c0003t0002 a0003c0003t0011 a0003c0003t0017 a0004c0004t0001 a0006c0007t0023	a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0049 others(13): Show a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0006g0092 a0001c0005t0001g0111 a0001c0005t0002g0115 a0001c0012t0003g0069 a0002c0002t0006g0048 a0003c0003t0001g0047 a0003c0003t0001g0063 a0003c0003t0002g0014 a0003c0003t0011g0064 a0003c0003t0017g0052 a0004c0004t0001g0054 a0006c0007t0023g0062	16	140	0.1143	104	c.486 others(123): Show c.486+20215_486+20318dupAAATCTTTGTGGCTTCTGATAATTTG CATATTGTCACTTGTTTGCCAACTAGAGGGTATCTGGACATGTGTATGTG AGAGGGCATCTGCGTGGACATGCATGTG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44721942	C C	CAAATCTT others(97): Show CAAATCTTTGTGGCTTCTGATAATTTGCATATTGTCACTTGTTTGCTAAC TAGAGGGTATCTGGACATGTGTATGTGAGAGGGCATCTGCGTGGACATGC ATGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG03579.hp1 HG02615.hp2 HG02717.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0005 a0001c0009t0002 a0001c0001t0001 a0001c0001t0005 a0001c0009t0002	a0001c0001t0001g0105 a0001c0001t0005g0138 a0001c0009t0002g0106 a0001c0001t0001g0105 a0001c0001t0005g0138 a0001c0009t0002g0106	3	140	0.0214	104	c.486 others(123): Show c.486+20155_486+20156insTAACTAGAGGGTATCTGGACATGTGT ATGTGAGAGGGCATCTGCGTGGACATGCATGTGAAATCTTTGTGGCTTCT GATAATTTGCATATTGTCACTTGTTTGC	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44721942	C C	CAAATCTT others(97): Show CAAATCTTTGTGGCTTCTGATAATTTGTATATTGTCACTTGTTTGCCAAC TAGAGGGTATCTGGACATGTGTATGTGAGAGGGCATCTGCGTGGACATGC ATGTG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0053 a0004c0004t0001g0053	1	140	0.0071	104	c.486 others(123): Show c.486+20136_486+20137insTATATTGTCACTTGTTTGCCAACTAG AGGGTATCTGGACATGTGTATGTGAGAGGGCATCTGCGTGGACATGCATG TGAAATCTTTGTGGCTTCTGATAATTTG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44722102	G G	GTATCTGG others(97): Show GTATCTGGACATGTGTATGTGAGAGGGCATCTGCGTGGACATGCATGTGA AATCTTTGTGGCTTCTGATAATTTGCATATTGTCACTTGTTTGCCAACTA GAGGT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0024 a0004c0004t0001g0024	1	140	0.0071	104	c.486 others(123): Show c.486+20318_486+20319insAAATCTTTGTGGCTTCTGATAATTTG CATATTGTCACTTGTTTGCCAACTAGAGGTTATCTGGACATGTGTATGTG AGAGGGCATCTGCGTGGACATGCATGTG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar

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