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
TWIST2_chr2_238843085_238915534	238870406	A A	ACCCCACA others(294): Show ACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACCCCACACACACCACACACCCCACACACACCACAC CCCATACACACCACACCCCACACACACCACACACCCTACACACCCCACAC ACACCACACCCCACACACACCACACCCCATACACACCACACCCCACACAC ACCACACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCATACAC AC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	338	0.0030	301	c.35 others(320): Show c.35+21674_*35+21675insCCCACACACACCACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCTACACACCCCACACACACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCATACACACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870467	C C	CCACACAC others(294): Show CCACACACACCACACCCCACACACACCACACACCCCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACCCCATACACACCACACA CCCCACACACACCACACACCCCACACACACCACACCCCATACACACCACA CCCCCCACACACCACACACCCCACACACACCACACCCCATACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCATACACACCACA CACCCCACACACCACACACACACATCACATACCACACACACATCACATAC CA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	338	0.0030	301	c.35 others(320): Show c.35+21734_*35+21735insCACACACACCACACCCCACACACACC ACACACCCCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACCCCATACACACCACACACCCCACACACACCACACACCCCACACA CACCACACCCCATACACACCACACCCCCCACACACCACACACCCCACACA CACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCATACACACCACACACCCCACACACCACACACACACATCA CATACCACACACACATCACATACCA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TYK2_chr19_10345533_10385572	10377665	T T	TGGATGGG others(294): Show TGGATGGGTGGGTGGATGGATGAATGGGTGGGTGGATGAATGGGTGGGTG GATGAATGGGTGGGTAGGTGGATGGATGGGTGGGTAGGTGTGTGGGTGGA TGGATGGATAGATGGGTGGGTGCGTGGATGAATGGATGGATGGATGAATG GATGGATGGGTGGGTGGATGGATGGATGGATGGATGGGTGGGTGGGTGGA TGAATGGATGGATGGATGGATGGATGGATGGATAGATGCATGGGTGGAGG GTGAGTGGGTGGGTGGATGGGTGGATGGATGGATGTGTGGGTGGATGGAT GG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0053 a0003c0004t0002g0053	1	376	0.0027	301	c.193 others(316): Show c.193+548_193+549insCCATCCATCCACCCACACATCCATCCATCC ACCCATCCACCCACCCACTCACCCTCCACCCATGCATCTATCCATCCATC CATCCATCCATCCATCCATTCATCCACCCACCCACCCATCCATCCATCCA TCCATCCACCCACCCATCCATCCATTCATCCATCCATCCATTCATCCACG CACCCACCCATCTATCCATCCATCCACCCACACACCTACCCACCCATCCA TCCACCTACCCACCCATTCATCCACCCACCCATTCATCCACCCACCCATT CATCCATCCACCCACCCATCC	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYK2_chr19_10345533_10385572	10377665	T T	TGGATGGG others(294): Show TGGATGGGTGGGTGGATGGATGGGTGGATGGATGAATGGGTGGGTGGATG AATGGGTGGGTAGGTGGATGGATGGGTGGGTAGGTGTGTGGGTGGATGGA TGGATAGATGGGTGGGTGCGTGGATGAATGGATGGATGGATGAATGGATG GATGGGTGGGTGGATGGATGGATGGATGGATGGATGGGTGGGTGGGTGGA TGAATGGATGGATGGATGGATGGATGGATGGATAGATGCATGGGTGGAGG GTGAGTGGGTGGGTGGATGGGTGGATGGATGGATGTGTGGGTGGATGGAT GG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0188	1	376	0.0027	301	c.193 others(316): Show c.193+548_193+549insCCATCCATCCACCCACACATCCATCCATCC ACCCATCCACCCACCCACTCACCCTCCACCCATGCATCTATCCATCCATC CATCCATCCATCCATCCATTCATCCACCCACCCACCCATCCATCCATCCA TCCATCCATCCACCCACCCATCCATCCATTCATCCATCCATCCATTCATC CACGCACCCACCCATCTATCCATCCATCCACCCACACACCTACCCACCCA TCCATCCACCTACCCACCCATTCATCCACCCACCCATTCATCCATCCACC CATCCATCCACCCACCCATCC	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYK2_chr19_10345533_10385572	10377665	T T	TGGATGGG others(294): Show TGGATGGGTGGGTGGATGGATGGGTGGATGGATGAATGGGTGGGTGGATG AATGGGTGGGTAGGTGGATGGATGGGTGGGTAGGTGTGTGGGTGGATGGA TGGATAGATGGGTGGGTGCGTGGATGAATGGATGGATGGATGAATGGATG GATGGGTGGGTGGATGGATGGATGGATGGATGGGTGGGTGGGTGGATGAA TGGATGGATGGATGGATGGATGGATGGATGGATAGATGCATGGGTGGAGG GTGAGTGGGTGGGTGGATGGGTGGATGGATGGATGTGTGGGTGGATGGAT GG	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19043.hp1 HG02145.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0306 a0002c0002t0001g0307	2	376	0.0053	301	c.193 others(316): Show c.193+548_193+549insCCATCCATCCACCCACACATCCATCCATCC ACCCATCCACCCACCCACTCACCCTCCACCCATGCATCTATCCATCCATC CATCCATCCATCCATCCATCCATTCATCCACCCACCCACCCATCCATCCA TCCATCCATCCACCCACCCATCCATCCATTCATCCATCCATCCATTCATC CACGCACCCACCCATCTATCCATCCATCCACCCACACACCTACCCACCCA TCCATCCACCTACCCACCCATTCATCCACCCACCCATTCATCCATCCACC CATCCATCCACCCACCCATCC	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
UAP1L1_chr9_137072517_137089538	137072796	C C	CGCCTGTA others(294): Show CGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAG GTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTAC TAAAAATACGAAATTAGCCGGGCATGGTGGCCCATGCCTGTAATCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCCGGAGGTGGAGGT TGCGGTGAGCCAAGATCGCGCCATTGCACTCTAGCCTGGTCAAGAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGGCTGGGCACGGTGGCTC AT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	301	c.-47 others(312): Show c.-4737_-4736insGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCG GGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAG AAATCCCGTCTCTACTAAAAATACGAAATTAGCCGGGCATGGTGGCCCAT GCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGCTTGAAC CCCGGAGGTGGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCTAGC CTGGTCAAGAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGGC TGGGCACGGTGGCTCAT	UAP1L1	ENSG00000197355.11	transcript	ENST00000409858.8	protein_coding		4720		chr9	TogoVar
UNC5C_chr4_95157504_95553973	95196786	A A	ATATATAT others(294): Show ATATATATTATATTTATGTAATATATAATATATATATTATATTTATGTAA TATATAATATATATATTATATTTATGTAATATATAATATATATTTATATA TTATATTTATGTAATATATAATATATATTTATATTATATTTATGTAATAT ATAATATATATTTATATATTATATTTATGTAATATATAATATATATTTAT ATATTATATTTATGTAATATATAATATATATTTATATATTATATTTATGT AATATATAATATATATTTATATATTATATTTATGTAATATATAATATATA TT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02698.hp2 HG02738.hp2 others(7): Show HG02132.hp1 HG02698.hp2 HG02738.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 NA18949.hp1 NA19074.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 others(2): Show a0001c0003 a0001c0004 a0001c0005 a0001c0020 a0001c0023	a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 others(2): Show a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0020t0017 a0001c0023t0001	a0001c0003t0001g0072 a0001c0003t0001g0111 a0001c0003t0001g0121 others(7): Show a0001c0003t0001g0072 a0001c0003t0001g0111 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0004t0001g0141 a0001c0005t0001g0023 a0001c0005t0001g0039 a0001c0005t0001g0076 a0001c0020t0017g0202 a0001c0023t0001g0056	10	204	0.0490	301	c.213 others(320): Show c.2136+5944_2136+5945insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATA TATTATATATTACATAAATATAATATATAAATATATATTATATATTACAT AAATATAATATATAAATATATATTATATATTACATAAATATAATATAAAT ATATATTATATATTACATAAATATAATATATAAATATATATTATATATTA CATAAATATAATATATATATTATATATTACATAAATATAATATATATATT ATATATTACATAAATATAATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VCX2_chrX_8164944_8176267	8169236	T T	TCCTCCCT others(294): Show TCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCT CCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCC ACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCGCTTCC TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0003	1	115	0.0087	301	c.79 others(310): Show c.795_*796insGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGAGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		707		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6532869	A A	ACACCTCC others(294): Show ACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC CACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCC TCCCTCCCCACACACCTCCTCTTCCCCCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACAC AC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0033 a0001c0002t0003g0033	1	74	0.0135	301	c.87 others(310): Show c.875_*876insGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGAGGTG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		748		chrX	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATAC others(294): Show GTGTATACACTGTATATACAGTATATATACTGTATATACAGTGTATGCAC TGTATATACAGTATATATACTGTATATACAGTGTATGCACTGTATATACA GTATATACTGTATATACAGTGTATGCACTGTATATACAGTATATACAGTG TATGCACTGTATATACAGTATATACAGTGTATGCACTGTATATACAGTAT ATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTATA TACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGC AC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	216	0.0046	301	c.75+ others(318): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTG TATATACTGTATATACAGTGCATACACTGTATATACTGTATATACAGTGC ATACACTGTATATACAGTATATACTGTATATACAGTGCATACACTGTATA TACAGTATATATACTGTATATACAGTGCATACACTGTATATACAGTATAT ATACTGTATATACAGTGTATACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDR64_chr1_241647281_241807777	241675073	G G	GCCTCCCT others(294): Show GCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCT CCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTGCCTCCCTCCCCTCCTTCCTGCCTCCCTCCCTCCTT CCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	326	0.0031	301	c.483 others(316): Show c.483+337_483+338insCCTTCCCTCCTCCCTCCCTCCTTCCCTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCCTCCTTCCTGCCTCCCT CCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTG CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR86_chr7_151376124_151415038	151397711	G G	GGCATAGC others(294): Show GGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGCAGGA GGAAGGGCATAGCGGGAGGAAGGGCATAGCGGGAGGAAGAGCATAGCGGG AGGAAGAGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTGTA GTGGGAGGAAGGGCATAGCGGGAGGAAGGGCATAGCGGGAGGAAGAGCAT AGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGTGGGAGGAAG GGCATAGCGGGAGGAAGGGCATAGCGGGAGGAAGAGCATAGCGGGAGGAA GA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02572.hp2 others(3): Show HG02145.hp2 HG02486.hp1 HG02572.hp2 HG02717.hp1 HG03139.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0001t0011 a0001c0024t0001 a0001c0001t0001 a0001c0001t0011 a0001c0024t0001	a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0181 others(3): Show a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0316 a0001c0001t0011g0182 a0001c0024t0001g0431	6	458	0.0131	301	c.306 others(318): Show c.306-1516_306-1515insTCTTCCTCCCGCTATGCTCTTCCTCCCG CTATGCCCTTCCTCCCGCTATGCCCTTCCTCCCACTACACCCTCTTCCTC CCGCTACACCCTCTTCCTCCCGCTATGCTCTTCCTCCCGCTATGCCCTTC CTCCCGCTATGCCCTTCCTCCCACTACACCCTCTTCCTCCCGCTACACCC TCTTCCTCCCGCTATGCTCTTCCTCCCGCTATGCTCTTCCTCCCGCTATG CCCTTCCTCCCGCTATGCCCTTCCTCCTGCTACACCCTCTTCCTCCCGCT ACACCCTCTTCCTCCCGCTATGC	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	2/5			chr7	TogoVar
ZNF365_chr10_62369369_62407450	62371269	C C	CATATATA others(294): Show CATATATATATCATATATATGAGATATATCTCATATATATATCATATATA TGAGATATATCTCATATATATATCATATATATGAGATATATCTCATATAT ATATCATATATATGAGATATATCTCATATATATATCATATATATGAGATA TATCTCATATATATATCATATATATGAGATATATCTCATATATATATCAT ATATATGATATATATCTCATATATATATCATATATATGATATATATCTCA TATATATATCATATATATGATATATATCTCATATATATATCATATATATG AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03130.hp1 HG02055.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0033 a0001c0001t0008g0033	2	350	0.0057	301	c.-32 others(312): Show c.-3203_-3202insATATATATATCATATATATGAGATATATCTCATA TATATATCATATATATGAGATATATCTCATATATATATCATATATATGAG ATATATCTCATATATATATCATATATATGAGATATATCTCATATATATAT CATATATATGAGATATATCTCATATATATATCATATATATGAGATATATC TCATATATATATCATATATATGATATATATCTCATATATATATCATATAT ATGATATATATCTCATATATATATCATATATATGATATATATCTCATATA TATATCATATATATGAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3099		chr10	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(294): Show TTCTATATATATATAAATATATATATTTCTATATATATAAATATATAAAT ATATTTATATATATATATAATATATATATAAATATATATATAAATATATA TATAAAAATTTATATATATAAAAATATATATATAAATATATAAATATATA TATATATATATATATATATATAAATATATAAATATATAAATATATATATA TTTCTATTTATATATATATATATATTTATATATATAGAAATATATATATA TTTATATATATATAAAATATATATTTATATATATATAAAATATATATATA TA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	400	0.0025	301	c.532 others(316): Show c.532+446_532+447insTATATATATATATTTTATATATATATAAAT ATATATTTTATATATATATAAATATATATATATTTCTATATATATAAATA TATATATATATATAAATAGAAATATATATATATTTATATATTTATATATT TATATATATATATATATATATATATATATTTATATATTTATATATATATT TTTATATATATAAATTTTTATATATATATTTATATATATATTTATATATA TATTATATATATATATAAATATATTTATATATTTATATATATAGAAATAT ATATATTTATATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
AAGAB_chr15_67195667_67259661	67208153	G G	GAGAAAGG others(295): Show GAGAAAGGGGATATACTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACC CCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCG CCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CAAGAGGCGGAGCTTGCAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCT TGGGCGAAAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19077.hp1 NA19086.hp1 NA18747.hp1 NA19077.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234	3	380	0.0079	302	c.715 others(317): Show c.715+408_715+409insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCACTCTTTCGCCCAAGCTGGACTGCAGTGGCGCTATCCCGG CTCACTGCAAGCTCCGCCTCTTGGGTTCATGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCGGCTAATTTT TTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGTATATCCCCTTTCT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	7/9			chr15	TogoVar
ABCB11_chr2_168915781_169036324	168975324	T T	TATAAATA others(295): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAAATATATAAATATATAAATATTTTTATATTTA TAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTA TAG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0035 a0002c0004t0035	a0002c0004t0035g0080 a0002c0004t0035g0080	1	306	0.0033	302	c.130 others(321): Show c.1308+1252_1308+1253insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATAT AAAAATATTTATATATTTATATATTTATAAATATAAAAATATTTATATAT TTATATATTTATAAATATAAAAATATTTATATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(295): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0006 a0002c0003t0013g0006	1	306	0.0033	302	c.130 others(321): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATAT AAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1288849	T T	TCCCGTGT others(295): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCATCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	302	c.47 others(313): Show c.4714_*4715insGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG GGACGGAGCAGGGACACGGGACGGAGCAGACACGGGGGACGGAGCAGAGA CACGGGATGGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGACGGAG CAGAGACACGGGGGACGGAGCAGGGACACGGGACGGAGCAGACACGGGGG ACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3541		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289187	C C	CCGTGTCT others(295): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCCCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	295	0.0034	302	c.43 others(313): Show c.4376_*4377insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGGGACGGGGCAGGGACACGGGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGAGCAGAGACACGGGGGACGGGGCAGGGACACGGGGGACGGAGCAGG GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGG AGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGACACGGG GGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3203		chr1	TogoVar
ADAMTS19_chr5_129455298_129743683	129578078	A A	ATATACAT others(295): Show ATATACATATGCATGTATATGTACGTATACGTACATATACCTATATGCAT GTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTAT ACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATACCT ATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATAT GTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTAC ATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGC ATG	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18963.hp2 HG01496.hp2 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0170 a0002c0002t0001g0062 a0001c0001t0001g0170 a0002c0002t0001g0062	2	226	0.0089	302	c.137 others(323): Show c.1373-18481_1373-18480insTATACATATGCATGTATATGTACG TATACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATA CCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTA TATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACG TACATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATA TGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGTA CGTATACGTACATATACCTATATGCATG	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22			chr5	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500842	A A	AGGGAGGA others(295): Show AGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAG GGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGA GGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGG GGAGGGGGAGGAGGGAAGGGGAGGGGGAGGAGGGGGGAGGGGGGGAGGAG GGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACG GGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGGA GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02965.hp1 HG01884.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0201 a0001c0001t0005g0026 a0001c0001t0005g0201	2	352	0.0057	302	c.51 others(313): Show c.5172_*5173insCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCT CCCCTCCTCCCTCCTCCCCCGTCCCCTCCTCCCCGCCCTCCCCTCCTCCC CCCTCCCCCTCCCCTTCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCTCC CCTTCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCCCTCCT CCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTCCTCCCCCC TCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCTCCCCCCTCCCCTCCT CCCTCTTCCCCTCCTCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4179		chr19	TogoVar
ADCY4_chr14_24313359_24340071	24325222	G G	GCTTTGGG others(295): Show GCTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAAGGG CCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0260 a0001c0001t0004g0260	1	438	0.0023	302	c.182 others(319): Show c.1823+154_1823+155insTGGCCCTTATCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTG GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAG	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	14/24			chr14	TogoVar
AKT3_chr1_243494724_243855243	243525837	G G	GGGAGGAG others(295): Show GGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAGGG GGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGG GGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGG AGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGA GGGGGGGGAGGGGGGGAGGGGGGAGGAGGAGGGGAGGAGGAGGAGGGGGA GGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGA GGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	301	0.0033	302	c.125 others(323): Show c.1252-13412_1252-13411insTCCTCCTCCCCCTCCTCCTCCTCC CCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCT CCTCCTCCCCCCTCCCCCCCTCCCCCCCCTCCCCCCCTCCCCCTCCCCCT CCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCT CCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCT CCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTT CACCTTCTCCCCTCCCCTCCCCTCCTCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALLC_chr2_3653200_3707671	3690353	T T	TCCCCCTC others(295): Show TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0178 a0003c0003t0002g0178	1	274	0.0037	302	c.512 others(319): Show c.512-5360_512-5359insCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AGGGGGAG others(295): Show AGGGGGAGGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGTG GGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGATGGG AGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGA GGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGAGGGGGAG GGGGAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAG GCG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0047 a0001c0001t0013g0047	1	350	0.0029	302	c.248 others(317): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCTCGCCTTCC CCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCC CTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACC TTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCC ATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCTCC CCCTCCCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCACTCG TCGACTCCCCTCCCCCTCCCCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANO2_chr12_5557655_5950259	5660428	G G	GAACACGC others(295): Show GAACACGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGAAGGCAGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCACTCCTG CCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	162	0.0062	302	c.154 others(323): Show c.1546-12628_1546-12627insTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGTTCTGTCGCCCAGGCAGGAGTGCTGTGGCGCGATC TCCGCTCACTGCAAGCTCTGCCTTCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGGCGTGTT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	14/24			chr12	TogoVar
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(295): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACCGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02027.hp1 HG02074.hp2 others(6): Show HG00597.hp1 HG02027.hp1 HG02074.hp2 NA18941.hp1 NA18969.hp2 NA18985.hp1 NA19074.hp1 NA19076.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0022 a0001c0002t0001 a0002c0001t0001 a0002c0001t0022	a0001c0002t0001g0066 a0001c0002t0001g0070 a0001c0002t0001g0071 others(6): Show a0001c0002t0001g0066 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0113 a0001c0002t0001g0213 a0002c0001t0001g0069 a0002c0001t0022g0184	9	370	0.0243	302	c.494 others(317): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAAATTTG	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6			chr1	TogoVar
ARHGEF7_chr13_111110310_111310732	111310248	T T	TCTCCGTG others(295): Show TCTCCGTGTTGATGGTTAGAGGACTGCATGGAAAGGTGTCAGTTCTCCGT GTTGATGGTTGGAGGACTGCATGGAAAGGCATCAGTTCTCCTCTGTGTTT ATGGTTAGAGTGTAGAAAGGCATCAGTTCTCTGTGTTGATGGTTAGAGGA CTGCATGGAAAGGTGTCAGTTCTCCTCTGTGTTGATGGTTGGAAGACTGC ATGGAAAGGCGTCAGTTCTCCGTGTTAATGGTTAGAGGACTGCATGGAAA GGCGTCAGTTCTCCATGTTAATGGTTAGAGGACTGCATGGAAAGGTGTCA GTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(64): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp2 HG01257.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01952.hp1 HG02004.hp1 HG02145.hp2 HG02280.hp1 HG02300.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18952.hp2 NA18957.hp2 NA18974.hp1 NA19000.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19077.hp1 NA19085.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0013	a0001c0001t0001 a0001c0001t0015 a0001c0001t0028 others(6): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0028 a0001c0001t0032 a0001c0002t0001 a0001c0002t0024 a0001c0003t0001 a0001c0008t0001 a0001c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 others(64): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0253 a0001c0001t0015g0271 a0001c0001t0015g0272 a0001c0001t0015g0273 a0001c0001t0028g0127 a0001c0001t0032g0030 a0001c0002t0001g0170 a0001c0002t0024g0183 a0001c0003t0001g0142 a0001c0008t0001g0098 a0001c0008t0001g0109 a0001c0013t0001g0100	67	274	0.2445	302	c.71 others(313): Show c.7135_*7136insCTCCGTGTTGATGGTTAGAGGACTGCATGGAAAG GTGTCAGTTCTCCGTGTTGATGGTTGGAGGACTGCATGGAAAGGCATCAG TTCTCCTCTGTGTTTATGGTTAGAGTGTAGAAAGGCATCAGTTCTCTGTG TTGATGGTTAGAGGACTGCATGGAAAGGTGTCAGTTCTCCTCTGTGTTGA TGGTTGGAAGACTGCATGGAAAGGCGTCAGTTCTCCGTGTTAATGGTTAG AGGACTGCATGGAAAGGCGTCAGTTCTCCATGTTAATGGTTAGAGGACTG CATGGAAAGGTGTCAGTC	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding		4517		chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111310248	T T	TCTCCGTG others(295): Show TCTCCGTGTTGATGGTTAGAGGACTGCATGGAAAGGTGTCAGTTCTCCGT GTTGATGGTTGGAGGACTGCATGGAAAGGCATCAGTTCTCCTCTGTGTTT ATGGTTAGAGTGTAGAAAGGCATCAGTTCTCTGTGTTGATGGTTAGAGGA CTGCATGGAAAGGTGTCAGTTCTCCTCTGTGTTGATGGTTGGAAGACTGC ATGGAAAGGCGTCAGTTCTCCGTGTTAATGGTTAGAGGACTGCATGGATA GGCGTCAGTTCTCCATGTTAATGGTTAGAGGACTGCATGGAAAGGTGTCA GTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0058 a0001c0014t0001g0058	1	274	0.0037	302	c.71 others(313): Show c.7135_*7136insCTCCGTGTTGATGGTTAGAGGACTGCATGGAAAG GTGTCAGTTCTCCGTGTTGATGGTTGGAGGACTGCATGGAAAGGCATCAG TTCTCCTCTGTGTTTATGGTTAGAGTGTAGAAAGGCATCAGTTCTCTGTG TTGATGGTTAGAGGACTGCATGGAAAGGTGTCAGTTCTCCTCTGTGTTGA TGGTTGGAAGACTGCATGGAAAGGCGTCAGTTCTCCGTGTTAATGGTTAG AGGACTGCATGGATAGGCGTCAGTTCTCCATGTTAATGGTTAGAGGACTG CATGGAAAGGTGTCAGTC	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding		4517		chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111310555	G G	GTGTTGAT others(295): Show GTGTTGATGGTTAGAGGACTGCATGGAAAGGTGTCAGTTCTCCGTGTTGA TGGTTGGAGGACTGCATGGAAAGGCATCAGTTCTCCTCTGTGTTTATGGT TAGAGTGTAGAAAGGCATCAGTTCTCTGTGTTGATGGTTAGAGGACTGCA TGGAAAGGTGTCAGTTCTCCTCTGTGTTGATGGTTGGAAGACTGCATGGA AAGGCGTCAGTTCTCCGTGTTAATGGTTAGAGGACTGCATGGAAAGGCGT CAGTTCTCCATGTTAATGGTTAGAGGACTGCATGGAAAGGTGTCAGTCCT CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0019 a0001c0003t0019 a0001c0001t0019 a0001c0003t0019	a0001c0001t0019g0071 a0001c0003t0019g0022 a0001c0001t0019g0071 a0001c0003t0019g0022	2	274	0.0073	302	c.74 others(313): Show c.7442_*7443insTGTTGATGGTTAGAGGACTGCATGGAAAGGTGTC AGTTCTCCGTGTTGATGGTTGGAGGACTGCATGGAAAGGCATCAGTTCTC CTCTGTGTTTATGGTTAGAGTGTAGAAAGGCATCAGTTCTCTGTGTTGAT GGTTAGAGGACTGCATGGAAAGGTGTCAGTTCTCCTCTGTGTTGATGGTT GGAAGACTGCATGGAAAGGCGTCAGTTCTCCGTGTTAATGGTTAGAGGAC TGCATGGAAAGGCGTCAGTTCTCCATGTTAATGGTTAGAGGACTGCATGG AAAGGTGTCAGTCCTCCT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding		4824		chr13	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGAG others(295): Show TGGCAGAGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAA GATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTC AAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	384	0.0026	302	c.648 others(317): Show c.648-342_648-341insAGAGAATCGCTTGAACCCAGGAGGCGGAGG TTGCAGTAAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAA CGAAACTCCATCTCAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAG	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(295): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18975.hp1 HG02083.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0149 a0001c0001t0002g0063 a0001c0001t0002g0149	2	384	0.0052	302	c.648 others(317): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(295): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02074.hp2 HG02647.hp2 others(2): Show HG01257.hp2 HG02074.hp2 HG02647.hp2 HG02970.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0001g0133 a0001c0001t0001g0137 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0254 a0001c0001t0002g0311	5	384	0.0130	302	c.648 others(317): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(295): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	384	0.0026	302	c.648 others(317): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(295): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCTCCCCCCACCCCC ACCCCCCACCTCCCCCCACCCCCACCCCCCACCCCCACCCCCCACCCCCC ACCCCCCACCTCCCCCCACCCCCCCCACCCCCACCCCCCACCCCCCACCC CCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC CCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCC ACC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp1 HG02895.hp2 others(2): Show HG02451.hp2 HG02886.hp1 HG02895.hp2 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0002 a0001c0001t0021 a0001c0004t0003 others(1): Show a0001c0001t0002 a0001c0001t0021 a0001c0004t0003 a0001c0006t0004	a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0049 others(2): Show a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0049 a0001c0004t0003g0079 a0001c0006t0004g0114	5	254	0.0197	302	c.39+ others(319): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCTCCCCC CACCCCCACCCCCCACCTCCCCCCACCCCCACCCCCCACCCCCACCCCCC ACCCCCCACCCCCCACCTCCCCCCACCCCCCCCACCCCCACCCCCCACCC CCCACCCCCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCCACCTCCC CCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACC TCCCCCCACCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(295): Show TCCCCACCTCCCCCCACCCCCCCCCCACCTCCCCCACCCCCCCCACCCCC CCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCAC CTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCAC CCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCC TACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCCACCC CCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCA CCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0040 a0002c0003t0001g0040	1	254	0.0039	302	c.39+ others(319): Show c.39+32844_39+32845insACCCCCCCCCCACCTCCCCCACCCCCCC CACCCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC CACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCC CACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCC CCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCCCACCT CCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112801112	T T	TCAGCATT others(295): Show TCAGCATTGTACTGGAAATCCTAGCTAATACAGTAAGAGTAGAAATGGGA ATAAAAGGCCTACAGCTGACGTCATACTTAATGGTGAAAAACGAGATGAT TTCACCCTAAGATTGGAAAAAAGGCAAGAAATCCCTTATCACTGTTCTTA TGCAGCATTGTACTGGAAATCCTAGCTAATACAGTAAGAGTAGAAATGGG AATAAAAGGCCTACAGCTGACGTCATACTTAATGGTGAAAAACGAGATGA TTTCACCCTAAGATTGGAAAAAAGGCAAGAAATCCCTTATCACTGTTCTT ATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0192 a0002c0003t0002g0192	1	254	0.0039	302	c.163 others(319): Show c.163-3695_163-3694insGCAGCATTGTACTGGAAATCCTAGCTAA TACAGTAAGAGTAGAAATGGGAATAAAAGGCCTACAGCTGACGTCATACT TAATGGTGAAAAACGAGATGATTTCACCCTAAGATTGGAAAAAAGGCAAG AAATCCCTTATCACTGTTCTTATGCAGCATTGTACTGGAAATCCTAGCTA ATACAGTAAGAGTAGAAATGGGAATAAAAGGCCTACAGCTGACGTCATAC TTAATGGTGAAAAACGAGATGATTTCACCCTAAGATTGGAAAAAAGGCAA GAAATCCCTTATCACTGTTCTTAT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421112	G G	GTATATAT others(295): Show GTATATATATATATATATATATATATATATATATATATATAGTTTATATA TATATAGTTTATATATATATATACTATATATATAGTTTATATATAAACTA TATATAGTATATATATATACTATATATAGTATATATATATACTATATATA GTATATATATATACTATATATATAGTATATATATATACTATATATATAGT ATATATATATACTATATATAGTTTATATATATATACACTATATATAGTTT ATATATATATACACTATATATAGTTTATATATATATACACTATATATAGT TTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03130.hp2 HG02723.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0185 a0001c0001t0007g0189 a0001c0001t0007g0185 a0001c0001t0007g0189	2	304	0.0066	302	c.331 others(321): Show c.3314-1146_3314-1145insTAAACTATATATAGTGTATATATATA TAAACTATATATAGTGTATATATATATAAACTATATATAGTGTATATATA TATAAACTATATATAGTATATATATATACTATATATATAGTATATATATA TACTATATATATAGTATATATATATACTATATATAGTATATATATATACT ATATATAGTATATATATATACTATATATAGTTTATATATAAACTATATAT ATAGTATATATATATATAAACTATATATATATAAACTATATATATATATA TATATATATATATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421112	G G	GTATATAT others(295): Show GTATATATATATATATATATATATATATATATATATATATATAGTTTATA TATATATAGTTTATATATATATATACTATATATATAGTTTATATATAAAC TATATATAGTATATATATATACTATATATAGTATATATATATACTATATA TAGTATATATATATACTATATATATAGTATATATATATACTATATATATA GTATATATATATACTATATATAGTTTATATATATATACACTATATATAGT TTATATATATATACACTATATATAGTTTATATATATATACACTATATATA GTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19240.hp2 HG03098.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0182 a0001c0001t0007g0187 a0001c0001t0007g0182 a0001c0001t0007g0187	2	304	0.0066	302	c.331 others(321): Show c.3314-1146_3314-1145insAACTATATATAGTGTATATATATATA AACTATATATAGTGTATATATATATAAACTATATATAGTGTATATATATA TAAACTATATATAGTATATATATATACTATATATATAGTATATATATATA CTATATATATAGTATATATATATACTATATATAGTATATATATATACTAT ATATAGTATATATATATACTATATATAGTTTATATATAAACTATATATAT AGTATATATATATATAAACTATATATATATAAACTATATATATATATATA TATATATATATATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
BCL2_chr18_63118346_63324769	63198864	A A	AAGACACA others(295): Show AAGACACACAGTGACACACAGACACAGAGACACACACACAGACATACACA GACACACACAGACACAGAGACACACACAGACAGACACAGACACACACAGA CACAGTGACACACAGACACAGAGACACACACACAGACACACAGTGACACA CAGACACAGAGACACACACACAGACATACACAGACACACACAGACACAGA GACACACACAGACAGACACAGACACACACAGACACAGTGACACACAGACA CAGAGACACACACACAGACACACAGTGACACACAGACACAGAGACACACA CAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(143): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18957.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18974.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0032 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0026 a0001c0002t0027 a0001c0002t0033 a0001c0002t0036 a0001c0002t0041 a0001c0004t0002 a0001c0004t0008 a0001c0004t0038 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0021	a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0113 others(143): Show a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0114 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0139 a0001c0001t0003g0144 a0001c0001t0003g0170 a0001c0001t0003g0174 a0001c0001t0003g0179 a0001c0001t0003g0187 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0236 a0001c0001t0003g0244 a0001c0001t0004g0151 a0001c0001t0004g0155 a0001c0001t0004g0188 a0001c0001t0004g0191 a0001c0001t0004g0193 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0206 a0001c0001t0005g0161 a0001c0001t0005g0184 a0001c0001t0005g0195 a0001c0001t0006g0001 a0001c0001t0006g0005 a0001c0001t0006g0022 a0001c0001t0007g0121 a0001c0001t0007g0131 a0001c0001t0007g0209 a0001c0001t0007g0226 a0001c0001t0007g0231 a0001c0001t0008g0008 a0001c0001t0008g0034 a0001c0001t0010g0138 a0001c0001t0010g0189 a0001c0001t0012g0242 a0001c0001t0017g0245 a0001c0001t0020g0120 a0001c0001t0021g0183 a0001c0001t0023g0258 a0001c0001t0023g0259 a0001c0001t0032g0014 a0001c0001t0042g0124 a0001c0001t0043g0125 a0001c0001t0044g0109 a0001c0001t0045g0147 a0001c0001t0046g0175 a0001c0001t0047g0128 a0001c0001t0048g0140 a0001c0001t0050g0152 a0001c0001t0051g0172 a0001c0001t0053g0251 a0001c0001t0054g0255 a0001c0001t0057g0253 a0001c0001t0060g0263 a0001c0001t0061g0262 a0001c0002t0001g0247 a0001c0002t0002g0046 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0086 a0001c0002t0002g0090 a0001c0002t0003g0249 a0001c0002t0006g0057 a0001c0002t0006g0065 a0001c0002t0008g0083 a0001c0002t0009g0048 a0001c0002t0009g0074 a0001c0002t0009g0087 a0001c0002t0010g0250 a0001c0002t0011g0045 a0001c0002t0011g0070 a0001c0002t0011g0071 a0001c0002t0026g0055 a0001c0002t0027g0056 a0001c0002t0033g0077 a0001c0002t0036g0052 a0001c0002t0041g0246 a0001c0004t0002g0037 a0001c0004t0002g0041 a0001c0004t0002g0044 a0001c0004t0008g0042 a0001c0004t0008g0043 a0001c0004t0038g0040 a0002c0003t0001g0093 a0002c0003t0001g0098 a0002c0003t0001g0100 a0002c0003t0003g0099 a0002c0003t0004g0096 a0002c0003t0021g0092	146	264	0.5530	302	c.586 others(321): Show c.586-70106_586-70105insGTGTGTGTGTCTCTGTGTCTGTGTGT CACTGTGTGTCTGTGTGTGTGTCTCTGTGTCTGTGTGTCACTGTGTCTGT GTGTGTCTGTGTCTGTCTGTGTGTGTCTCTGTGTCTGTGTGTGTCTGTGT ATGTCTGTGTGTGTGTCTCTGTGTCTGTGTGTCACTGTGTGTCTGTGTGT GTGTCTCTGTGTCTGTGTGTCACTGTGTCTGTGTGTGTCTGTGTCTGTCT GTGTGTGTCTCTGTGTCTGTGTGTGTCTGTGTATGTCTGTGTGTGTGTCT CTGTGTCTGTGTGTCACTGTGTGTCT	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63198864	A A	AAGACACA others(295): Show AAGACACACAGTGACACACGGACACAGAGACACACACACAGACATACACA GACACACACAGACACAGAGACACACACAGACAGACACAGACACACACAGA CACAGTGACACACAGACACAGAGACACACACACAGACACACAGTGACACA CAGACACAGAGACACACACACAGACATACACAGACACACACAGACACAGA GACACACACAGACAGACACAGACACACACAGACACAGTGACACACAGACA CAGAGACACACACACAGACACACAGTGACACACAGACACAGAGACACACA CAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0153 a0001c0001t0019g0153	1	264	0.0038	302	c.586 others(321): Show c.586-70106_586-70105insGTGTGTGTGTCTCTGTGTCTGTGTGT CACTGTGTGTCTGTGTGTGTGTCTCTGTGTCTGTGTGTCACTGTGTCTGT GTGTGTCTGTGTCTGTCTGTGTGTGTCTCTGTGTCTGTGTGTGTCTGTGT ATGTCTGTGTGTGTGTCTCTGTGTCTGTGTGTCACTGTGTGTCTGTGTGT GTGTCTCTGTGTCTGTGTGTCACTGTGTCTGTGTGTGTCTGTGTCTGTCT GTGTGTGTCTCTGTGTCTGTGTGTGTCTGTGTATGTCTGTGTGTGTGTCT CTGTGTCCGTGTGTCACTGTGTGTCT	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BNC2_chr9_16404503_16875670	16682301	A A	ACATCATA others(295): Show ACATCATAGGAATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTGGC CCAGGCAGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTC CAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCACCATCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACC GCG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02056.hp2 NA18968.hp1 others(2): Show HG00621.hp2 HG02056.hp2 NA18968.hp1 NA18986.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0072 a0001c0001t0001 a0001c0001t0002 a0001c0001t0072	a0001c0001t0001g0125 a0001c0001t0001g0150 a0001c0001t0002g0164 others(2): Show a0001c0001t0001g0125 a0001c0001t0001g0150 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0072g0132	5	176	0.0284	302	c.330 others(321): Show c.330+45495_330+45496insCGCGGTGGCTCACGCTTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA ATTAGCCGGGCGTGATGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCTGGAGGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCACTCCTGCCTGGGCCACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAATTCCTATGATG	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BPIFC_chr22_32408845_32469446	32423939	T T	TAAAACTC others(295): Show TAAAACTCCACAGCTTTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAAGAGGCGGAGCTTG CAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02258.hp1 HG02738.hp1 HG01361.hp1 HG02258.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0202 a0001c0001t0001g0382 a0001c0001t0001g0179 a0001c0001t0001g0202 a0001c0001t0001g0382	3	422	0.0071	302	c.121 others(321): Show c.1218-4536_1218-4535insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTTCGCCCAAGCTGGA CTGCAGTGGCGCTATCCCGGCTCACTGCAAGCTCCGCCTCTTGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCAC CACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAAAGCTGTGGAGTTTT	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32423939	T T	TAAAACTC others(295): Show TAAAACTCCACAGCTTTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAAGAGGCGGAGCTTG CAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0163 a0003c0003t0001g0163	1	422	0.0024	302	c.121 others(321): Show c.1218-4536_1218-4535insTTTTTTTTTTTTTTTTTTTTTTTGTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTTCGCCCAAGCTGGA CTGCAGTGGCGCTATCCCGGCTCACTGCAAGCTCCGCCTCTTGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCAC CACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAAAGCTGTGGAGTTTT	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BST2_chr19_17397939_17410630	17409027	C C	CCATGTTG others(295): Show CCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCA ACTTGGACTCACCAAGTACTGGGATTACAAGCGTGAGCCACCGTGCCCGG CCTATATTTTATTTTATATTTTTAAATATATTCTCCCTCTGTCACCCAGG CTGGAGTGCAGTGGTGTAATCTCGGCTCACTGCAACCTCTGCCTCCTGGG TTGAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATG CCTGCCACCATGCCCAGCTACTTTTTGTATTTTTAGGAGAGACGGGGTTT CGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02615.hp1 HG02622.hp2 others(8): Show HG02257.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02895.hp2 HG03225.hp1 HG03453.hp1 HG04204.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0005g0008 a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0005g0008	11	412	0.0267	302	c.-37 others(313): Show c.-3754_-3453dupTCGAAACCCCGTCTCTCCTAAAAATACAAAAAGT AGCTGGGCATGGTGGCAGGCATCTGTAGTCCCAGCTACTCAGGAGGCTGA GGCAGAAGAATCACTTCAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGA TTACACCACTGCACTCCAGCCTGGGTGACAGAGGGAGAATATATTTAAAA ATATAAAATAAAATATAGGCCGGGCACGGTGGCTCACGCTTGTAATCCCA GTACTTGGTGAGTCCAAGTTGGGTGGATCACCTGAGGTCAGAAGTTTGAG ACCAGCCTGGCCAACATG	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		3398		chr19	TogoVar
C10orf90_chr10_126419997_126675693	126564843	T T	TAATATAT others(295): Show TAATATATATTATATATAATATATATTATATATAATATATATTATATATA TATATTATATATAATATATATTATATATAATATATATTATATATTATATA TAATATATATTTTATATAATATATAATATATATTATATATAATATATATT ATATATTATATAAAATATATATTATATATAATATATATTATATATTATAT AAAATATATATTATATATAATATATAATATATATTATATAAAATATATAT TATATATAATATATATTATATATTATATAATATATATTATATATAATATA TAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0198 a0002c0004t0001g0198	1	218	0.0046	302	c.314 others(321): Show c.314-50905_314-50904insTTATATATTATATATAATATATATTA TATAATATATAATATATATTATATATAATATATATTTTATATAATATATA TTATATATTATATATAATATATATTTTATATAATATATAATATATATTAT ATATAATATATATTTTATATAATATATAATATATATTATATATAATATAT ATTATATATTATATAAAATATATATTATATATAATATATAATATATATTA TATATAATATATATTATATATAATATATATATATAATATATATTATATAT AATATATATTATATATAATATATATT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C4orf47_chr4_185421254_185454826	185440758	T T	TAAAGAAA others(295): Show TAAAGAAATACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAACACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01934.hp1 HG01975.hp2 others(16): Show HG00642.hp1 HG01934.hp1 HG01975.hp2 HG02145.hp2 HG02572.hp1 HG02622.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0121 a0001c0001t0001g0270 a0001c0001t0003g0230 others(14): Show a0001c0001t0001g0121 a0001c0001t0001g0270 a0001c0001t0003g0230 a0001c0001t0004g0018 a0001c0001t0004g0031 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0222 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0232	19	358	0.0531	302	c.714 others(315): Show c.714+51_714+52insGCCGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAACACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAGAAATACTG	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185440758	T T	TAAAGAAA others(295): Show TAAAGAAATACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAACACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0106 a0001c0001t0004g0106	1	358	0.0028	302	c.714 others(315): Show c.714+51_714+52insGCCGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAACACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAGAAATACTG	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185440758	T T	TAAAGAAA others(295): Show TAAAGAAATACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01109.hp2 HG01884.hp2 others(36): Show HG00544.hp1 HG01109.hp2 HG01884.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02523.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp2 NA18942.hp1 NA18945.hp1 NA18957.hp1 NA18964.hp2 NA19004.hp1 NA19009.hp1 NA19056.hp2 NA19079.hp1 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0007t0002 a0001c0001t0001 a0001c0001t0002 a0001c0007t0002	a0001c0001t0001g0005 a0001c0001t0001g0265 a0001c0001t0001g0268 others(30): Show a0001c0001t0001g0005 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0002g0006 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0120 a0001c0001t0002g0225 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0304 a0001c0001t0002g0311 a0001c0001t0002g0314 a0001c0007t0002g0256	39	358	0.1089	302	c.714 others(315): Show c.714+51_714+52insGCCGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAGAAATACTG	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185440758	T T	TAAAGAAA others(295): Show TAAAGAAATACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAATTAGCT GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0305 a0006c0011t0001g0305	1	358	0.0028	302	c.714 others(315): Show c.714+51_714+52insGCCGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAAT TAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAGAAATACTG	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar

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