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
ABCA7_chr19_1035107_1070572	1049926	T T	TTCCCCAC others(193): Show TTCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAA CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA GGCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCTGTGA GCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGA G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0002 a0011c0008t0002	a0011c0008t0002g0014 a0011c0008t0002g0014	1	30	0.0333	200	c.255 others(217): Show c.2552+494_2552+495insACCACTCCCTCCCCATGAACCCCCCACC ACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCAC CACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCATGAACCCCCCAC CACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCAC CACTCCCTCCCTGTGAGTCCCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACAP3_chr1_1287391_1312930	1289073	C C	CCCCGTGT others(193): Show CCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	295	0.0034	200	c.44 others(211): Show c.4490_*4491insACGGGGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCA GAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACGGGACGG AGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3317		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289187	C C	CCGTGTCT others(193): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	295	0.0034	200	c.43 others(211): Show c.4376_*4377insACGGAGCAGAGACACGGGACGGAGCAGGGACACG GGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAG CAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3203		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289225	C C	CCCCGTGT others(193): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	295	0.0068	200	c.43 others(211): Show c.4338_*4339insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3165		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289785	C C	CCCCGTGT others(193): Show CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	295	0.0034	200	c.37 others(211): Show c.3778_*3779insACGGGGCAGAGACACGGGACGGAGCAGAGACTCG GGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGA GACACGGGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACGGG ACGGAGCAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2605		chr1	TogoVar
ACTN2_chr1_236681499_236769631	236713828	G G	GGGATATG others(193): Show GGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTAT ACACAGATACCACTGAAGGATATGCAAGAGACTGATAGCTTCATTCCTCA CTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGAC TGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGA A	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0234	1	344	0.0029	200	c.127 others(217): Show c.127-3962_127-3961insATATGCAAGAGACTGATAGCTTCATTCC TCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGA GACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCAC TGAAGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATG TATACACAGATACCACTGAAGG	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADAM9_chr8_38991973_39110261	39045473	C C	CACACACC others(193): Show CACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGTG TACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTG TGTACACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTG TGTACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTG T	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	332	0.0030	200	c.130 others(219): Show c.1302+3378_1302+3379insGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GTGTACACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGT GTGTACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGT GTACACACCTATATGTGCGTGTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
AGBL4_chr1_48527854_50028954	49947991	T T	TATATATA others(193): Show TATATATAAATATATATTTATAAATATATATATTTATATATATAAATATA TATATTTATAAATATATATTTATATATATAAATATATATATTTATAAATA TATATTTATATATATAAATATATATATTTATAAATATATATATTTATATA TATAAATATATATATTTATAAATATATATTTATATATATAAATATATATA A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	1	104	0.0096	200	c.34+ others(217): Show c.34+75771_34+75772insTTATATATATTTATATATATAAATATAT ATTTATAAATATATATATTTATATATATAAATATATATATTTATAAATAT ATATATTTATATATATAAATATATATTTATAAATATATATATTTATATAT ATAAATATATATTTATAAATATATATATTTATATATATAAATATATATAT TTATAAATATATATTTATATAT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGMO_chr7_15195317_15567015	15530071	G G	GATATTCT others(193): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATT TCCATATAGATATTCTATATACGTATTTCCATATATTCTATATACGTATT TCCATATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCA T	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0236 a0001c0001t0006g0236	1	236	0.0042	200	c.409 others(219): Show c.409+14700_409+14701insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530098	G G	GATATTCT others(193): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATT TCCATATAGATATTCTATATACGTATTTCCATATATTCTATATACGTATT TCCATATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCA T	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18945.hp2 HG00544.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0133 a0001c0001t0001g0062 a0001c0001t0001g0133	2	236	0.0085	200	c.409 others(219): Show c.409+14673_409+14674insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530125	G G	GATATTCT others(193): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATT TCCATATAGATATTCTATATACGTATTTCCATATATTCTATATACGTATT TCCATATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCA T	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	236	0.0042	200	c.409 others(219): Show c.409+14646_409+14647insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129331679	T T	TAAAAATA others(193): Show TAAAAATACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0242 a0001c0002t0003g0242	1	292	0.0034	200	c.364 others(219): Show c.364-47946_364-47945insAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAATACAAAAA	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AK3_chr9_4704556_4746202	4735254	T T	TATACATA others(193): Show TATACATATATAAATATATATATACATATATAAATATATATATACATATA TAAATATATATACATATATAAATATATATATACATATATAAATATATATA CATATATAAATATATATATACATATATAAATATATATACATATATAAATA TATATACATATATAAATATATATACATATATAAATATATATACATATATA A	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0329 a0001c0001t0005g0329	1	462	0.0022	200	c.151 others(217): Show c.151+5682_151+5683insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATTTATAT ATGTATATATATATTTATATATGTATATATATTTATATATGTATATATAT ATTTATATATGTATATATATTTATATATGTATATATATATTTATATATGT ATATATATATTTATATATGTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735254	T T	TATACATA others(193): Show TATACATATATAAATATATATATACATATATAAATATATATATACATATA TAAATATATATATATATATAAATATATATACATATATAAATATATATATA CATATATAAATATATATACATATATAAATATATATATACATATATAAATA TATATACATATATAAATATATATACATATATAAATATATATACATATATA A	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	462	0.0022	200	c.151 others(217): Show c.151+5682_151+5683insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATATTTAT ATATGTATATATATTTATATATGTATATATATATTTATATATGTATATAT ATTTATATATATATATATATTTATATATGTATATATATATTTATATATGT ATATATATATTTATATATGTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK5_chr1_77277019_77564966	77367814	A A	ATATATTA others(193): Show ATATATTATATATAATATATGTTATATATTATATATAATATATGTTATAT ATTATATATAATATATGTTATATATTATATATAATATATGTTATATATTA TATATAATATATGTTATATATATTATATATTATATGTTATATATATTATA TATAATATGTTATATATATTATATATAACATGTTATATATAATATATATG T	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19005.hp1 NA19054.hp1 NA18957.hp1 NA19005.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0060 a0002c0002t0002g0062 a0002c0002t0002g0070 a0002c0002t0002g0060 a0002c0002t0002g0062 a0002c0002t0002g0070	3	284	0.0106	200	c.891 others(219): Show c.891+27251_891+27252insTATATATAATATATGTTATATATTAT ATATAATATATGTTATATATTATATATAATATATGTTATATATTATATAT AATATATGTTATATATTATATATAATATATGTTATATATATTATATATTA TATGTTATATATATTATATATAATATGTTATATATATTATATATAACATG TTATATATAATATATATGTTATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77444390	T T	TACATAGT others(193): Show TACATAGTATAAATATATACTATATATAGTATATACATAGTATAAATATA TACTATATATAGTATATACATAGTATAAATATATACTATATATAGTATAT ACATAGTATAAATATATACTATATATAGTATATACATAGTATAAATATAT ACTATATATAGTATATACATAGTATAAATATATACTATATATAGTATATA C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0162 a0002c0002t0005g0162	1	284	0.0035	200	c.105 others(221): Show c.1059+26676_1059+26677insCATAGTATAAATATATACTATATA TAGTATATACATAGTATAAATATATACTATATATAGTATATACATAGTAT AAATATATACTATATATAGTATATACATAGTATAAATATATACTATATAT AGTATATACATAGTATAAATATATACTATATATAGTATATACATAGTATA AATATATACTATATATAGTATATACA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(193): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGGAGGGGGGG AGAGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGGA GGGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGAGAGGGGAG A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	356	0.0028	200	c.667 others(215): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCCTCTCCCCCTCCCCTCCCCCTC TCCCCCCTCCCCTCCCCCTCTCCCCCCCTCCCCCCCCTCCCCTCCCCCTT CCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTC CCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(193): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGGAGGGGGG AGAGGGGGAGGGGAGGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGA GGGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGAGAGGGGAG A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	356	0.0028	200	c.667 others(215): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCCTC TCCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCCCTCCCCTCCCCCTTC CCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTC CCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406065	A A	AGAGGGGG others(193): Show AGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGG GAGAGGGGGGAGAGGGGGAGAGGGGGAGGGGAGGGGGGAGAGGGGGGAGA GGGGGAAGGGGGGAGGGGAGGGGGGAGAGGGGGGAGGGGAGGGGGAGAGG GGGGAGGGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGAGGGGGGGAGAGG G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01978.hp1 HG02083.hp2 others(10): Show HG00673.hp1 HG01978.hp1 HG02083.hp2 HG02602.hp1 HG03017.hp1 HG03491.hp1 HG03492.hp1 HG04204.hp1 NA18964.hp1 NA18969.hp1 NA18979.hp2 NA19066.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0009 a0001c0001t0020 a0001c0001t0021 others(2): Show a0001c0001t0009 a0001c0001t0020 a0001c0001t0021 a0001c0001t0046 a0001c0006t0055	a0001c0001t0009g0210 a0001c0001t0009g0211 a0001c0001t0009g0212 others(10): Show a0001c0001t0009g0210 a0001c0001t0009g0211 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0216 a0001c0001t0009g0218 a0001c0001t0020g0219 a0001c0001t0020g0221 a0001c0001t0021g0340 a0001c0001t0021g0341 a0001c0001t0021g0342 a0001c0001t0046g0220 a0001c0006t0055g0349	13	356	0.0365	200	c.667 others(215): Show c.667-822_667-821insCCCTCTCCCCCCCTCCCCCTCTCTCCCTTC TCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCCC CCTCCCCTCCCCCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCC TCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCC CTCTCCCCCCTCTCCCCCTC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANGPT1_chr8_107244482_107502918	107368450	G G	GTATTCCT others(193): Show GTATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0179 a0001c0001t0013g0179	1	292	0.0034	200	c.298 others(219): Show c.298-21553_298-21354dupTACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATATACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATATACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATATACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATA	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANKLE2_chr12_132720503_132766832	132727539	C C	CGCCCGGG others(193): Show CGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATG CGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCCAGGCGGAGGAGAGGCACTGCTGAACCCTGGCACCACGGGCACACG CGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGTACCGTGGGCACACG T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03471.hp1 NA19043.hp2 HG03139.hp1 HG03471.hp1 NA19043.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0129 a0001c0011t0002g0131 a0001c0011t0002g0140 a0001c0011t0002g0129 a0001c0011t0002g0131 a0001c0011t0002g0140	3	350	0.0086	200	c.261 others(215): Show c.2616-97_2616-96insACGTGTGCCCACGGTACCAGGGTTCAGCAG TGCATCTCCTCCATCCGGGCGCGTGTGCCCGTGGTGCCAGGGTTCAGCAG TGCCTCTCCTCCGCCTGGGCGCGTGTGCCCACGGTGCCAGGGTTCAGCAG TGCGTCTCCTCCGTCCGGGCGCATGTGCCCGCGGTGCCAGGGTTCAGCAA TGCCTCTCCTCCGCCCGGGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	12/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132727539	C C	CGCCCGGG others(193): Show CGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATG CGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCCGGGCGGAGGAGAGGCACTGCTGAACCCTGGCACCGCGGGCACACG CGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGCACCGTGGGCACACG T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00642.hp1 others(84): Show HG00280.hp1 HG00544.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02145.hp1 HG02155.hp2 HG02293.hp1 HG02523.hp1 HG02683.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18939.hp2 NA18942.hp2 NA18947.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18966.hp1 NA18984.hp2 NA18990.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0007 a0011 a0015	a0001c0001 a0002c0002 a0002c0008 others(6): Show a0001c0001 a0002c0002 a0002c0008 a0004c0004 a0004c0006 a0005c0005 a0007c0014 a0011c0022 a0015c0025	a0001c0001t0011 a0002c0002t0001 a0002c0002t0022 others(10): Show a0001c0001t0011 a0002c0002t0001 a0002c0002t0022 a0002c0008t0001 a0002c0008t0009 a0002c0008t0012 a0004c0004t0001 a0004c0004t0019 a0004c0006t0001 a0005c0005t0001 a0007c0014t0001 a0011c0022t0001 a0015c0025t0001	a0001c0001t0011g0318 a0002c0002t0001g0003 a0002c0002t0001g0015 others(82): Show a0001c0001t0011g0318 a0002c0002t0001g0003 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0084 a0002c0002t0001g0105 a0002c0002t0001g0118 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0252 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0304 a0002c0002t0001g0306 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0022g0170 a0002c0008t0001g0149 a0002c0008t0001g0307 a0002c0008t0009g0166 a0002c0008t0012g0159 a0004c0004t0001g0148 a0004c0004t0001g0154 a0004c0004t0001g0162 a0004c0004t0001g0163 a0004c0004t0001g0165 a0004c0004t0001g0168 a0004c0004t0001g0169 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0001g0287 a0004c0004t0001g0288 a0004c0004t0019g0153 a0004c0006t0001g0007 a0004c0006t0001g0108 a0004c0006t0001g0155 a0004c0006t0001g0156 a0004c0006t0001g0176 a0005c0005t0001g0030 a0007c0014t0001g0175 a0007c0014t0001g0224 a0011c0022t0001g0164 a0015c0025t0001g0281	87	350	0.2486	200	c.261 others(215): Show c.2616-97_2616-96insACGTGTGCCCACGGTGCCAGGGTTCAGCAG TGCATCTCCTCCATCCGGGCGCGTGTGCCCGCGGTGCCAGGGTTCAGCAG TGCCTCTCCTCCGCCCGGGCGCGTGTGCCCACGGTGCCAGGGTTCAGCAG TGCGTCTCCTCCGTCCGGGCGCATGTGCCCGCGGTGCCAGGGTTCAGCAA TGCCTCTCCTCCGCCCGGGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	12/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132727539	C C	CGCCCGGG others(193): Show CGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATG CGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCCGGGCGGAGGAGAGGCACTGCTGAACCCTGGCACCGCGGGCACACG CGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGTACCGTGGGCACACG T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02630.hp2 others(6): Show HG01109.hp1 HG01243.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03225.hp2 HG03453.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0010 a0003c0007 a0009c0013 a0001c0010 a0003c0007 a0009c0013	a0001c0010t0002 a0003c0007t0002 a0009c0013t0005 a0001c0010t0002 a0003c0007t0002 a0009c0013t0005	a0001c0010t0002g0192 a0001c0010t0002g0193 a0001c0010t0002g0275 others(5): Show a0001c0010t0002g0192 a0001c0010t0002g0193 a0001c0010t0002g0275 a0003c0007t0002g0009 a0003c0007t0002g0276 a0003c0007t0002g0277 a0009c0013t0005g0013 a0009c0013t0005g0014	9	350	0.0257	200	c.261 others(215): Show c.2616-97_2616-96insACGTGTGCCCACGGTACCAGGGTTCAGCAG TGCATCTCCTCCATCCGGGCGCGTGTGCCCGCGGTGCCAGGGTTCAGCAG TGCCTCTCCTCCGCCCGGGCGCGTGTGCCCACGGTGCCAGGGTTCAGCAG TGCGTCTCCTCCGTCCGGGCGCATGTGCCCGCGGTGCCAGGGTTCAGCAA TGCCTCTCCTCCGCCCGGGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	12/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132727539	C C	CGCCCGGG others(193): Show CGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATG CGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCCGGGCGGAGGAGAGGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGCACCGTGGGCACACG T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(116): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00733.hp2 HG01106.hp1 HG01123.hp1 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02630.hp1 HG02683.hp2 HG02735.hp1 HG02818.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG06807.hp2 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19056.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA21309.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0010 a0013 a0014	a0001c0001 a0001c0017 a0003c0003 others(5): Show a0001c0001 a0001c0017 a0003c0003 a0003c0023 a0005c0005 a0010c0021 a0013c0019 a0014c0018	a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 others(10): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 a0001c0001t0021 a0001c0017t0001 a0003c0003t0001 a0003c0003t0018 a0003c0023t0001 a0005c0005t0001 a0005c0005t0016 a0010c0021t0001 a0013c0019t0001 a0014c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(110): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0305 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0008g0012 a0001c0001t0017g0220 a0001c0001t0021g0160 a0001c0017t0001g0199 a0003c0003t0001g0124 a0003c0003t0001g0145 a0003c0003t0001g0187 a0003c0003t0001g0279 a0003c0003t0001g0330 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0336 a0003c0003t0001g0337 a0003c0003t0018g0319 a0003c0023t0001g0321 a0005c0005t0001g0023 a0005c0005t0001g0188 a0005c0005t0001g0189 a0005c0005t0001g0190 a0005c0005t0001g0214 a0005c0005t0001g0302 a0005c0005t0016g0303 a0010c0021t0001g0263 a0013c0019t0001g0247 a0014c0018t0001g0255	119	350	0.3400	200	c.261 others(215): Show c.2616-97_2616-96insACGTGTGCCCACGGTGCCAGGGTTCAGCAG TGCATCTCCTCCATCCGGGCGCGTGTGCCCACGGTGCCAGGGTTCAGCAG TGCCTCTCCTCCGCCCGGGCGCGTGTGCCCACGGTGCCAGGGTTCAGCAG TGCGTCTCCTCCGTCCGGGCGCATGTGCCCGCGGTGCCAGGGTTCAGCAA TGCCTCTCCTCCGCCCGGGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	12/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132727539	C C	CGCCCGGG others(193): Show CGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATG CGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCCGGGTGGAGGAGAGGCACTGCTGAACCCTGGCACCGCGGGCACACG CGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGCACCGTGGGCACACG T	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0197 a0008c0015t0001g0197	1	350	0.0029	200	c.261 others(215): Show c.2616-97_2616-96insACGTGTGCCCACGGTGCCAGGGTTCAGCAG TGCATCTCCTCCATCCGGGCGCGTGTGCCCGCGGTGCCAGGGTTCAGCAG TGCCTCTCCTCCACCCGGGCGCGTGTGCCCACGGTGCCAGGGTTCAGCAG TGCGTCTCCTCCGTCCGGGCGCATGTGCCCGCGGTGCCAGGGTTCAGCAA TGCCTCTCCTCCGCCCGGGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	12/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132727552	G G	GAGAGGCA others(193): Show GAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATGCGCCCGGACGGAG GAGACGCACTGCTGAACCCTGGCACCGTGGGCACACGCGCCCGGGCGGAG GAGAGGCACTGCTGAACCCTGGCACCGTGGGCACACGCGCCCGGATGGAG GAGATGCACTGCTGAACCCTGGCACCGTGGGCACACGTGCCCGGGCGGAG A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0278 a0003c0003t0001g0278	1	350	0.0029	200	c.261 others(217): Show c.2616-110_2616-109insTCTCCGCCCGGGCACGTGTGCCCACGGT GCCAGGGTTCAGCAGTGCATCTCCTCCATCCGGGCGCGTGTGCCCACGGT GCCAGGGTTCAGCAGTGCCTCTCCTCCGCCCGGGCGCGTGTGCCCACGGT GCCAGGGTTCAGCAGTGCGTCTCCTCCGTCCGGGCGCATGTGCCCGCGGT GCCAGGGTTCAGCAATGCCTCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	12/12			chr12	TogoVar
AP2A2_chr11_920870_1017240	1009515	A A	ACGGCCCC others(193): Show ACGGCCCCGGGGGACACGCAGCCCGCGACCCAGCGCCAGGGTCTGGAGGG GCGGCCCCGGGGGACACGCTGCCCGCGACCCCGCGCCAGGGTCTGGAGGG GCGGCCCCGGGGGACACGCTGCCCGCGACCCAGCGCCAGGGTCTGGAGGG ACGGCCCCGGGGAACACGCAGCCCATGACCCCGCGCCAGGGTCTGGAGGG G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0186 a0001c0002t0003g0186	1	268	0.0037	200	c.260 others(216): Show c.2608-100_2608-99insTGCCCGCGACCCCGCGCCAGGGTCTGGAG GGGCGGCCCCGGGGGACACGCTGCCCGCGACCCAGCGCCAGGGTCTGGAG GGACGGCCCCGGGGAACACGCAGCCCATGACCCCGCGCCAGGGTCTGGAG GGGCGGCCCCGGGGGACACGCAGCCCGCGACCCAGCGCCAGGGTCTGGAG GGGCGGCCCCGGGGGACACGC	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP3D1_chr19_2095988_2156566	2128442	G G	GCACTGCA others(193): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCC GGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCTC CGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCG A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	406	0.0025	200	c.806 others(215): Show c.806+647_806+648insTCGGAGCGGCGGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCGGCGGAGGCGGGCCGGCTCCACGGGGTGCAGTG TCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGC GGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGC CGGCTCCACGGGGTGCAGTG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128546	G G	GCCCCCGC others(193): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCGACACTGCACCCCGTGGAGCTGGCCCGCCCCCGCCGCTCCGACACT GCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGG AGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCG C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0195 a0001c0003t0002g0195	1	406	0.0025	200	c.806 others(215): Show c.806+543_806+544insGCGGGCCGGCTCCACGGGGTGCAGTGTCGG AGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGG CGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCAGCT CCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTG CAGTGTCGGAGCGGCGGGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
API5_chr11_43306996_43349529	43310924	T T	TTGTATAT others(193): Show TTGTATATATAATATATATTATATATAATTGTATATATAATATATATTAT ATATATAATTGTATATATAATATATATTATATATATAATTGTATATATAA TATATATTATATATATAATTGTATATATAATATATATTATATATATAATT GTATATATAATATATATTATATATATAATTGTATATATAATATAATATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00738.hp2 HG01256.hp2 others(8): Show HG00558.hp1 HG00738.hp2 HG01256.hp2 HG01257.hp2 HG01361.hp2 HG02080.hp2 HG02129.hp2 HG02738.hp1 NA18747.hp2 NA18994.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0046 a0001c0001t0001g0070 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0046 a0001c0001t0001g0070 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242	11	384	0.0287	200	c.-12 others(211): Show c.-1204_-1203insTGTATATATAATATATATTATATATAATTGTATA TATAATATATATTATATATATAATTGTATATATAATATATATTATATATA TAATTGTATATATAATATATATTATATATATAATTGTATATATAATATAT ATTATATATATAATTGTATATATAATATATATTATATATATAATTGTATA TATAATATAATATATA	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1071		chr11	TogoVar
APOH_chr17_66207033_66234415	66221417	A A	AAGGAAGG others(193): Show AAGGAAGGGAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGGAGGAAGGA AGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAAGGA AGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAAGGAAGGAA GGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGG G	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0038 a0003c0003t0003g0038	1	386	0.0026	200	c.416 others(215): Show c.416-676_416-675insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCC TCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTCCCTTCCTTCCT TCCTTCCTTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTT TCCTTCCTTCCTCCCTTCCT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	4/7			chr17	TogoVar
AQP2_chr12_49945737_49963878	49962495	A A	ACCAGGAA others(193): Show ACCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAG GCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAG GCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAG GCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAG G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	442	0.0023	200	c.68 others(211): Show c.6887_*6888insCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGG CAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGG CAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGG CAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGG CAAGAGCCTCCCAAGG	AQP2	ENSG00000167580.8	transcript	ENST00000199280.4	protein_coding		3618		chr12	TogoVar
AQP5_chr12_49956872_49970682	49962495	A A	ACCAGGAA others(193): Show ACCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAG GCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAG GCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAG GCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAG G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	466	0.0022	200	c.363 others(215): Show c.363+152_363+153insGAGCCTCCCAAGGCCAGGAAGGCAAGAGCC TCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCC TCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCC TCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCC TCCCAAGGCCAGGAAGGCAA	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARHGAP39_chr8_144524179_144690846	144620226	T T	TGTGTGTG others(193): Show TGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCC CGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTT AGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGTG TCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAG C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0234 a0001c0001t0002g0235	2	246	0.0081	200	c.-81 others(219): Show c.-81-14731_-81-14532dupGCTCCCTTGGACACACAGGCTAACAG ACACGGGCACACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCAC ACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCACACACGCTCCC TTGGACACACAGGCTAACAGACACGGGCACACACGCTCCCTTGGACACAC AGGCTAACAGACACGGGCACACAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(193): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCC T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01106.hp2 HG00558.hp1 HG00642.hp1 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0122	3	264	0.0114	200	c.102 others(217): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCC CCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(193): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCC T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0089 a0003c0003t0001g0089	1	264	0.0038	200	c.102 others(217): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCC CCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(193): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCC T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19005.hp2 NA18983.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0108 a0001c0001t0001g0119	2	264	0.0076	200	c.102 others(217): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCC CCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(193): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCC T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19011.hp1 NA18941.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0215 a0001c0001t0001g0102 a0001c0001t0001g0215	2	264	0.0076	200	c.102 others(217): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCC CCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ASCC1_chr10_72091032_72221276	72198300	G G	GAGGAGGG others(193): Show GAGGAGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGGAGGG GGAGGGGAGGGGGATGGGAGGGGGATGGGAGGGGGATGGGAGGGGGAGGG GGAGAGGGGAGGGGGAGGGGGGAGGGAGGGGAGATGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGATCGGGGAGGGGAGGGGGAGGGGAGGGGGG A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0161 a0004c0005t0005g0161	1	216	0.0046	200	c.311 others(217): Show c.311-1312_311-1311insTCCCCCCTCCCCTCCCCCTCCCCTCCCC GATCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCATCTCCCCTCCC TCCCCCCTCCCCCTCCCCTCTCCCCCTCCCCCTCCCATCCCCCTCCCATC CCCCTCCCATCCCCCTCCCCTCCCCCTCCCCTCCCATCCCCCTCCCCTCC TCTTCCCTCCCCCTTCCCTCCT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASMTL_chrX_1398139_1457909	1448534	T T	TGGACACA others(193): Show TGGACACACACTGCCATCTTGGATAAGCACCACCATCTTGGACACACACC ATCTTGGACACACACGGCCATCTTGGATAAGCACCACCATCTTGGACACA CACCGCCATCTTGGATAAGCACCACCATCTTGGAGACACACCATCTTGGA CACACACTGCCATCTTGGAGAAGCACCACCATCTTGGACACACACCATCT G	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18967.hp1 NA18988.hp1 others(2): Show NA18950.hp1 NA18967.hp1 NA18988.hp1 NA19011.hp1 NA19064.hp1	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0001 a0003c0002 a0015c0026 a0001c0001 a0003c0002 a0015c0026	a0001c0001t0001 a0003c0002t0001 a0015c0026t0001 a0001c0001t0001 a0003c0002t0001 a0015c0026t0001	a0001c0001t0001g0156 a0003c0002t0001g0140 a0003c0002t0001g0141 others(2): Show a0001c0001t0001g0156 a0003c0002t0001g0140 a0003c0002t0001g0141 a0003c0002t0001g0142 a0015c0026t0001g0114	5	185	0.0270	200	c.93+ others(215): Show c.93+4014_93+4213dupCAGATGGTGTGTGTCCAAGATGGTGGTGCT TCTCCAAGATGGCAGTGTGTGTCCAAGATGGTGTGTCTCCAAGATGGTGG TGCTTATCCAAGATGGCGGTGTGTGTCCAAGATGGTGGTGCTTATCCAAG ATGGCCGTGTGTGTCCAAGATGGTGTGTGTCCAAGATGGTGGTGCTTATC CAAGATGGCAGTGTGTGTCC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(193): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0099 a0003c0003t0001g0099	1	300	0.0033	200	c.654 others(219): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(193): Show CCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0255 a0003c0003t0001g0255	1	300	0.0033	200	c.654 others(219): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGATCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758861	C C	CCTAACTC others(193): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	300	0.0033	200	c.654 others(219): Show c.654+22157_654+22158insTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGATAGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758861	C C	CCTAACTC others(193): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTT A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0038 a0038	a0038c0050 a0038c0050	a0038c0050t0001 a0038c0050t0001	a0038c0050t0001g0054 a0038c0050t0001g0054	1	300	0.0033	200	c.654 others(219): Show c.654+22157_654+22158insTAAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112804243	G G	GCCCTCCT others(193): Show GCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCC ATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCT TCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCTTCCCCCCATCCCCTCT CTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATT C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	254	0.0039	200	c.163 others(215): Show c.163-703_163-702insCTCCTTTTCCTCCTTCCCTCCTTCACCTCC CTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTT CCCTTCCTTCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCTTCCCCCCA TCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTT CCCTCATTCCCCTCCTTCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B4_chr15_49853238_50124233	50085877	T T	TTATATAT others(193): Show TTATATATGATATATATCATATATATTTATATATGATATATATCATATAT ATTTATATATGATATATATCATATATATTTATATATGATATATATCATAT ATATTTATATATGATATATATCATATATATTTATATATGATATATATCAT ATATATTTATATATGATATATATCATATATATTTATATATGATATATATC A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0127 a0011c0011t0001g0127	1	254	0.0039	200	c.29- others(217): Show c.29-11693_29-11692insTGATATATATCATATATAAATATATATG ATATATATCATATATAAATATATATGATATATATCATATATAAATATATA TGATATATATCATATATAAATATATATGATATATATCATATATAAATATA TATGATATATATCATATATAAATATATATGATATATATCATATATAAATA TATATGATATATATCATATATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50085963	T T	TTATATAT others(193): Show TTATATATGATATATATCATATATATTTATATATGATATATATCATATAT ATTTATATATGATATATATCATATATATTTATATATGATATATATCATAT ATATTTATATATGATATATATCATATATATTTATATATGATATATATCAT ATATATTTATATATGATATATATCATATTTATATATGATATATATCATAT A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	254	0.0039	200	c.29- others(217): Show c.29-11779_29-11778insTATATGATATATATCATATATAAATATG ATATATATCATATATAAATATATATGATATATATCATATATAAATATATA TGATATATATCATATATAAATATATATGATATATATCATATATAAATATA TATGATATATATCATATATAAATATATATGATATATATCATATATAAATA TATATGATATATATCATATATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79327512	A A	ATGGTTAG others(193): Show ATGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAACGTGCT CTCCGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGCG TGCTCTCCGTGTTTAGCATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTT AGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGCTCGCC G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0092 a0001c0004t0003g0092	1	298	0.0034	200	c.177 others(219): Show c.1774-1587_1774-1586insACGTGCTCTCCGTGGTTAACGTGCCC TCCGTGGTTAGCGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCAT GCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTA GTGTGCTCTCTCCATGGTTAGCGTGCTCGCCGTGGTTAGCGTGCTCTCCG TGGTTAGCGTGCTCTCCGTGGTTA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATXN7L1_chr7_105599772_105881599	105733681	C C	CCCATCCA others(193): Show CCCATCCACCCATCCATCCATTCATCCATCCACCCATCCATCCATCCACC CATCCATCCACCCAACCACCCATCCATCCACCCCTCCATCCGTCCATCCA TCCACCCATCCATCCATCCACCCATCCACCCATTCATCCATCCACCCATC CATCCATCCATCCATCCATCCATTCATCCATCCACCCATCCATCCATTCA T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG00673.hp2 others(64): Show HG00280.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02015.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02735.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG04199.hp2 HG06807.hp2 NA18943.hp1 NA18945.hp2 NA18957.hp2 NA18970.hp2 NA18971.hp1 NA18994.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19086.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0003c0003 a0004c0013 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0037 a0001c0001t0048 a0001c0001t0050 a0001c0001t0056 a0001c0001t0061 a0001c0001t0064 a0001c0004t0010 a0001c0006t0001 a0002c0002t0030 a0003c0003t0005 a0004c0013t0036 a0007c0009t0007	a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0059 others(64): Show a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0059 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0119 a0001c0001t0001g0174 a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0187 a0001c0001t0003g0011 a0001c0001t0003g0118 a0001c0001t0003g0235 a0001c0001t0004g0039 a0001c0001t0004g0127 a0001c0001t0004g0219 a0001c0001t0005g0126 a0001c0001t0006g0024 a0001c0001t0006g0116 a0001c0001t0006g0197 a0001c0001t0008g0073 a0001c0001t0009g0097 a0001c0001t0010g0032 a0001c0001t0010g0091 a0001c0001t0011g0101 a0001c0001t0012g0028 a0001c0001t0012g0052 a0001c0001t0012g0122 a0001c0001t0012g0232 a0001c0001t0013g0129 a0001c0001t0013g0236 a0001c0001t0013g0241 a0001c0001t0013g0242 a0001c0001t0014g0038 a0001c0001t0014g0123 a0001c0001t0015g0125 a0001c0001t0015g0140 a0001c0001t0015g0193 a0001c0001t0016g0069 a0001c0001t0016g0176 a0001c0001t0018g0058 a0001c0001t0019g0230 a0001c0001t0020g0120 a0001c0001t0020g0169 a0001c0001t0021g0227 a0001c0001t0025g0104 a0001c0001t0025g0240 a0001c0001t0026g0189 a0001c0001t0027g0008 a0001c0001t0028g0037 a0001c0001t0028g0114 a0001c0001t0031g0172 a0001c0001t0037g0065 a0001c0001t0048g0132 a0001c0001t0050g0155 a0001c0001t0056g0210 a0001c0001t0061g0036 a0001c0001t0064g0098 a0001c0004t0010g0154 a0001c0006t0001g0112 a0002c0002t0030g0212 a0003c0003t0005g0079 a0004c0013t0036g0107 a0007c0009t0007g0096	67	252	0.2659	200	c.355 others(219): Show c.355+54922_355+54923insATGAATGGATGGATGGGTGGATGGAT GAATGGATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGG ATGGGTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGAT GGATGGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGG ATGAATGGATGGATGGGTGGATGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
AUTS2_chr7_69593475_70798506	70004139	A A	ATATATGA others(193): Show ATATATGAATGTGTTATATGTGAATATATATATTATATATGAATGTGTTA TATGTGAATATATATAATATATATGAATGTGTTATATGTGAATATATATA ATATATATGAATGTGTTATATGTGAATATATATAATATATATGAATGTGT TATATGTGAATATATATATTATATATGAATGTGTTATATGTGAATATATA T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG04199.hp2 HG01175.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0029 a0001c0001t0028 a0001c0001t0029	a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0028g0021 a0001c0001t0029g0022	2	76	0.0263	200	c.522 others(221): Show c.522+104672_522+104673insTTATATATGAATGTGTTATATGTG AATATATATAATATATATGAATGTGTTATATGTGAATATATATAATATAT ATGAATGTGTTATATGTGAATATATATAATATATATGAATGTGTTATATG TGAATATATATATTATATATGAATGTGTTATATGTGAATATATATTATAT GAATGTGTTATATGTGAATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar

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