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 (≤).

Sort By

Select column to sort.

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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
FHIT_chr3_59742277_61256452	60861204	T T	TATATATG others(825): Show TATATATGATATATATGATATATATCATATGATATGATATATATGATATA TATGATATATATCATATGATATGATATATATGATATATATGATATATATC ATATGATATGATATATATGATATATATGATATATATCATATGATATGATA TATATGATATATATGATATATATCATATGATATGATATATATGATATATA TGATATATATCATATGATATGATATATATGATATATATGATATATATCAT ATGATATGATATATATGATATATATGATATATATGATATATATGATATAT ATCATATGATATATATGATATATATCATATATATCATATCTCATATGATA TATATCATATATATCATATCTCATATGATATATATGATATATATGATATA TCATATATATCATATATGATATATATGATATATATGATATATCATATCAT ATCATATATATGATATATATGATATATATGATATATCATATCATATCATA TATGATATATATGATATATATGATATATCATATCATATCATATATGATAT ATATGATATATATGATATATCATATCATATCATATATGATATATATGATA TATATGATATATCATATCATATCATATATGATATATATGATATATATGAT ATATCATATCATATCATATATGATATATATGATATATATGATATATCATA TCATATCATATATGATATATATGATATATATGATATATCATATCATATCA TATATGATATATATGATATATATGATATATCATATCATATCATATATGAT ATATATGATATATATGATATATCATATCATATC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	46	0.0217	832	c.-11 others(853): Show c.-110-39194_-110-39193insGATATGATATGATATATCATATAT ATCATATATATCATATATGATATGATATGATATATCATATATATCATATA TATCATATATGATATGATATGATATATCATATATATCATATATATCATAT ATGATATGATATGATATATCATATATATCATATATATCATATATGATATG ATATGATATATCATATATATCATATATATCATATATGATATGATATGATA TATCATATATATCATATATATCATATATGATATGATATGATATATCATAT ATATCATATATATCATATATGATATGATATGATATATCATATATATCATA TATATCATATATGATATGATATGATATATCATATATATCATATATATCAT ATATATGATATGATATGATATATCATATATATCATATATATCATATATGA TATATATGATATATCATATATATCATATATATCATATGAGATATGATATA TATGATATATATCATATGAGATATGATATATATGATATATATCATATATA TCATATGATATATATCATATATATCATATATATCATATATATCATATATA TCATATCATATGATATATATCATATATATCATATATATCATATCATATGA TATATATCATATATATCATATATATCATATCATATGATATATATCATATA TATCATATATATCATATCATATGATATATATCATATATATCATATATATC ATATCATATGATATATATCATATATATCATATATATCATATCATATGATA TATATCATATATATCATATATATCATATCATATGATATATATCATATATA TCATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FOXK2_chr17_82514732_82609602	82586340	G G	GGTGAAAG others(825): Show GGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCAGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCAGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAG GTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCAGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CAGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	308	0.0033	832	c.157 others(849): Show c.1576+142_1576+143insGAAAGGTGGGCAGTGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTCAAAGGTGGGCAGGGGGGGGAATGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGGGAATGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAATGGAGGAGAGGGGAGA CCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTGAAAGGTGGGCAGGGGGGGGAATGGAGGAGAGGGGAGAC CACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCAGGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AAGT	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXP1_chr3_70949708_71588728	71435687	G G	GGGACGGA others(825): Show GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGAAGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGAA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACAGAGG GAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGCACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGAAGGAGAGACGGAGGGA GGGAGGAAGGGACGGAGGGAGGGAGGAAGGGAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0003 a0001c0001t0039g0003	1	96	0.0104	832	c.-16 others(853): Show c.-168+57738_-168+57739insGTCCCTTCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCTCTCCTTCCCTCCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCTTCCCTCCCTCCGTGCCTCCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCT CCTTCCCTCCCTCTGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT TCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(825): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTAT ATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATAT AGTTAGTATATTAATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 NA19064.hp2 HG02280.hp1 NA19064.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0005 a0003c0003 a0004c0005	a0003c0003t0002 a0004c0005t0002 a0003c0003t0002 a0004c0005t0002	a0003c0003t0002g0244 a0004c0005t0002g0020 a0003c0003t0002g0244 a0004c0005t0002g0020	2	268	0.0075	832	c.-28 others(843): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
HBQ1_chr16_175459_186179	186119	G G	GGAGGAAC others(825): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	832	c.50 others(843): Show c.5011_*5012insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGAGGAACAGC GACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCG ACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGA GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGAGGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4941		chr16	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TGATTTTA others(825): Show TGATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0129 a0003c0003t0002g0129	1	394	0.0025	832	c.41- others(847): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TC	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IFFO2_chr1_18899280_18961676	18925812	A A	ATGGATGG others(825): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTG GTTGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	376	0.0027	832	c.666 others(849): Show c.666-4692_666-4691insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAT CCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCA TCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925812	A A	ATGGATGG others(825): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	376	0.0027	832	c.666 others(849): Show c.666-4692_666-4691insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCA TCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925812	A A	ATGGATGG others(825): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGA TGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	376	0.0027	832	c.666 others(849): Show c.666-4692_666-4691insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA ACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCA ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCA TCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(825): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTG GTTGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0183 a0001c0001t0047g0183	1	376	0.0027	832	c.666 others(849): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAT CCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(825): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTG GTTGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0354 a0001c0001t0030g0354	1	376	0.0027	832	c.666 others(849): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(825): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTG GTTGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	376	0.0027	832	c.666 others(849): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAT CCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925820	A A	ATGGATGG others(825): Show ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGCTGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGA TGGAGGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0325 a0001c0001t0003g0325	1	376	0.0027	832	c.666 others(849): Show c.666-4700_666-4699insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAAC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCC CTCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCAGCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCA ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925861	A A	ATGGATGG others(825): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATTGTTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0056 a0001c0001t0011g0056	1	376	0.0027	832	c.666 others(849): Show c.666-4741_666-4740insACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCA TCCATCCATCCATCCATCCATCCATCCATCCATCCAAACAATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925861	A A	ATGGATGG others(825): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGTTGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0036 a0002c0005t0036	a0002c0005t0036g0170 a0002c0005t0036g0170	1	376	0.0027	832	c.666 others(849): Show c.666-4741_666-4740insACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAAC CAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAACCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
KIRREL3_chr11_126418358_127005770	126799454	C C	CTGTGTGC others(825): Show CTGTGTGCATGTGTGTACCTGTAGGCATGTGCAGGTGTGTATGTGTGTGT GCATGTGTGTATCTCTGTGTGTGCATGTGTGTATCTGTGTGCATGTGTGT ATCTGTGTGCATGTGCATGTGTATATCTGTATGTGTGCATGTGTGTATCA CTGTGTGCATGTATGTGTCTGTGTGTGAATGTGTGTATCTGTGTATGTGC ATGTAGCTGTGTGTGTGCATGTATCTGTGTGCATGTGGTATCTGTGTGTG CGCATGTGTATCTGCATATGTGTGTATCCATGTGCACATGTGTGTATCTG TGTGCATGTGCATGTGATGTGTGTATCTGTGTGTGCATATATCTGTGTGT GCATGTGTGTATCTGTGTGTGCATATGTGTATCTGCATATGTGCATGTAT CTATGTGTGCATGTGTGTGTCTGTGTGTGCATGTGCATGTATCTGTGCAT GTGCATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATC TGGGTGTGTGCATGTGTGTATCTGTGTGTGCATATGTGTATCTGTGTGTG CATGTGTGTATCTGTGTGTGTGCATGTGTATATCTGTGTGTGCATGTGCG TATCTGTGTTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTGTATCTGT GTGTGCACGTGGTATCTGTGTGTGTGCATGTATCTGCGTGTGTGTATTCA TGTGTGCATGTGTGTATCTGTGTGTACACATATCTGTGTGTGCATGTATC TGTGTGTGCACATGTGTGTATCTGTGTTTGCATGTGTGTATCTGTGTGTG TGCATGTGTGTATCTGTGTTGTGCATGTATCTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp2 HG03225.hp1 others(1): Show HG02622.hp1 HG03098.hp2 HG03225.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0004 a0001c0002t0009 others(1): Show a0001c0001t0011 a0001c0002t0004 a0001c0002t0009 a0001c0002t0012	a0001c0001t0011g0027 a0001c0002t0004g0032 a0001c0002t0009g0009 others(1): Show a0001c0001t0011g0027 a0001c0002t0004g0032 a0001c0002t0009g0009 a0001c0002t0012g0023	4	114	0.0351	832	c.55+ others(851): Show c.55+201000_55+201001insCAGATACATGCACAACACAGATACAC ACATGCACACACACAGATACACACATGCAAACACAGATACACACATGTGC ACACACAGATACATGCACACACAGATATGTGTACACACAGATACACACAT GCACACATGAATACACACACGCAGATACATGCACACACACAGATACCACG TGCACACACAGATACACACATGCACACACACAGATACACACATGCACAAC ACAGATACGCACATGCACACACAGATATACACATGCACACACACAGATAC ACACATGCACACACAGATACACATATGCACACACAGATACACACATGCAC ACACCCAGATACCACGTGCACATGCACACAGATACACACATGCACAGATA CATGCACATGCACAGATACATGCACATGCACACACAGACACACACATGCA CACATAGATACATGCACATATGCAGATACACATATGCACACACAGATACA CACATGCACACACAGATATATGCACACACAGATACACACATCACATGCAC ATGCACACAGATACACACATGTGCACATGGATACACACATATGCAGATAC ACATGCGCACACACAGATACCACATGCACACAGATACATGCACACACACA GCTACATGCACATACACAGATACACACATTCACACACAGACACATACATG CACACAGTGATACACACATGCACACATACAGATATACACATGCACATGCA CACAGATACACACATGCACACAGATACACACATGCACACACAGAGATACA CACATGCACACACACATACACACCTGCACATGCCTACAGGTACACACATG CACACA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126799454	C C	CTGTGTGC others(825): Show CTGTGTGCATGTGTGTACCTGTAGGCATGTGCATGTGTGTATGTGTGTGT GCATGTGTGTATCTCTGTGTGTGCATGTGTGTATCTGTGTGCATGTGTGT ATCTGTGTGCATGTGCATGTGTATATCTGTATGTGTGCATGTGTGTATCA CTGTGTGCATGTATGTGTCTGTGTGTGAATGTGTGTATCTGTGTATGTGC ATGTAGCTGTGTGTGTGCATGTATCTGTGTGCATGTGGTATCTGTGTGTG CGCATGTGTATCTGCATATGTGTGTATCCATGTGCACATGTGTGTATCTG TGTGCATGTGCATGTGATGTGTGTATCTGTGTGTGCATATATCTGTGTGT GCATGTGTGTATCTGTGTGTGCATATGTGTATCTGCATATGTGCATGTAT CTATGTGTGCATGTGTGTGTCTGTGTGTGCATGTGCATGTATCTGTGCAT GTGCATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATC TGGGTGTGTGCATGTGTGTATCTGTGTGTGCATATGTGTATCTGTGTGTG CATGTGTGTATCTGTGTGTGTGCATGTGTATATCTGTGTGTGCATGTGCG TATCTGTGTTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTGTATCTGT GTGTGCACGTGGTATCTGTGTGTGTGCATGTATCTGCGTGTGTGTATTCA TGTGTGCATGTGTGTATCTGTGTGTACACATATCTGTGTGTGCATGTATC TGTGTGTGCACATGTGTGTATCTGTGTTTGCATGTGTGTATCTGTGTGTG TGCATGTGTGTATCTGTGTTGTGCATGTATCTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02055.hp1 others(11): Show HG01243.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02451.hp2 HG02647.hp1 HG02809.hp1 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0008 a0001c0001t0012 a0001c0002t0002 others(10): Show a0001c0001t0008 a0001c0001t0012 a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0001c0002t0040 a0001c0003t0026 a0001c0003t0034 a0001c0004t0001 a0001c0004t0014 a0001c0004t0029 a0001c0004t0038 a0001c0005t0018	a0001c0001t0008g0075 a0001c0001t0012g0008 a0001c0002t0002g0042 others(11): Show a0001c0001t0008g0075 a0001c0001t0012g0008 a0001c0002t0002g0042 a0001c0002t0002g0044 a0001c0002t0009g0021 a0001c0002t0010g0087 a0001c0002t0040g0035 a0001c0003t0026g0026 a0001c0003t0034g0041 a0001c0004t0001g0040 a0001c0004t0014g0083 a0001c0004t0029g0029 a0001c0004t0038g0074 a0001c0005t0018g0084	14	114	0.1228	832	c.55+ others(851): Show c.55+201000_55+201001insCAGATACATGCACAACACAGATACAC ACATGCACACACACAGATACACACATGCAAACACAGATACACACATGTGC ACACACAGATACATGCACACACAGATATGTGTACACACAGATACACACAT GCACACATGAATACACACACGCAGATACATGCACACACACAGATACCACG TGCACACACAGATACACACATGCACACACACAGATACACACATGCACAAC ACAGATACGCACATGCACACACAGATATACACATGCACACACACAGATAC ACACATGCACACACAGATACACATATGCACACACAGATACACACATGCAC ACACCCAGATACCACGTGCACATGCACACAGATACACACATGCACAGATA CATGCACATGCACAGATACATGCACATGCACACACAGACACACACATGCA CACATAGATACATGCACATATGCAGATACACATATGCACACACAGATACA CACATGCACACACAGATATATGCACACACAGATACACACATCACATGCAC ATGCACACAGATACACACATGTGCACATGGATACACACATATGCAGATAC ACATGCGCACACACAGATACCACATGCACACAGATACATGCACACACACA GCTACATGCACATACACAGATACACACATTCACACACAGACACATACATG CACACAGTGATACACACATGCACACATACAGATATACACATGCACATGCA CACAGATACACACATGCACACAGATACACACATGCACACACAGAGATACA CACATGCACACACACATACACACATGCACATGCCTACAGGTACACACATG CACACA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LHPP_chr10_124456823_124619141	124471437	T T	TTATGTAT others(825): Show TTATGTATATATTTATATATATTTATATATATTTTATATATATTTATATA TATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATTA CATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATATA TTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTAT ATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTAT ATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTTAT ATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTTAT ATATATATTTATATGTATTTATATATATTTATATATTTATATGTATTTAT ACATATATATTTATATGTATTTATATATATTTATATATATTTTTTATGTA TTTATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATTTATATATATATTTATATATATT TATATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATATTTATATATATATTATTTATATATATATTTATAT ATATTTATATATATTTATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATATTTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	260	0.0039	832	c.125 others(849): Show c.125+9453_125+9454insGTATATATTTATATATATTTATATATAT TTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTTTTT ATATATTTATATATATTACATATATTTTTATATTTTATATATATTTATAT ATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATATAT TTATATATATTTATGTATATTTATATATATATTTATATATATTTATGTAT ATTTATATATATATTTATATATATTTATGTATATTTATATATATTTATAT ATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTATAT ATATTTATATGTATTTATATATATATTTATATGTATTTATATATATTTAT ATATTTATATGTATTTATACATATATATTTATATGTATTTATATATATTT ATATATATTTTTTATGTATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TATTTATATATATTTATATATATATTTATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATATTAT TTATATATATATTTATATATATTTATATATATTTATATATATTTATATAT ATTTATATATATATTTATATATATATTTATATATATTTATATATATATTT ATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMLN_chr3_197955217_198048720	198004765	A A	ACATCTAT others(825): Show ACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATA TCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACA TATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATA CATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGA TACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACA GATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATA CAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTA TACAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATC TATACAGATACATATCATACGTAGTAAGTTTGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0021 a0001c0001t0026g0021	1	258	0.0039	832	c.131 others(851): Show c.1319+1899_1319+1900insACATCTATCTATATATCATCTATACA GATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATA CAGATACATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTA TACAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATC TATACAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCA TCTATACAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATAT CATCTATACAGATACATATCATACGTAGTAAGTTTGACATCTATCTATAT ATCATCTATACAGATACATATCATACGTAGTAAGTTTGACATCTATCTAT ATATCATCTATACAGATACATATCATACGTAGTAAGTTTGACATCTATCT ATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGACATCTAT CTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGACATCT ATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGCCAT CTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGAC ATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTG ACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTG	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC27_chr10_132327193_132386508	132364766	G G	GCTTACAT others(825): Show GCTTACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCT CCACACTCGCACTTACACCCACACTTACATCTACCTCCACACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACAC TCACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACGCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTT ACATCTACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCAC ACCCGCGCTTACACCCACGCTTACATCTACCTCCACACTCGCACTTACAC CCACACTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTTACACCCACCCACACTCACACCCACACTTACAT CTACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0104 a0001c0001t0017g0104	1	290	0.0035	832	c.129 others(849): Show c.1290-641_1290-640insACCCGCGCTTACACCCACGCTTACATCT ACCTCCACACTCGCACTTACACCCACACTTACATCTACCTCCACACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCC ACACTCACACCCACACTTACATCTACCTCCACACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACGCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC ACTTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCTACCT CCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACACTCGCACTT ACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTTACACCCACCCACACTCACACCCACACTT ACATCTACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCT CCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(825): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCT CCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCC ACCCTCCCTTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCT CCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCC CTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCC CCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCCTCCC CTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTC CCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTT CCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCC TCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCT TCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCC TCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01975.hp1 HG01981.hp1 others(5): Show HG00423.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02129.hp1 NA18953.hp1 NA19007.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0016 a0001c0007 a0002c0016	a0001c0007t0002 a0001c0007t0014 a0001c0007t0022 others(1): Show a0001c0007t0002 a0001c0007t0014 a0001c0007t0022 a0002c0016t0002	a0001c0007t0002g0065 a0001c0007t0002g0202 a0001c0007t0002g0204 others(5): Show a0001c0007t0002g0065 a0001c0007t0002g0202 a0001c0007t0002g0204 a0001c0007t0002g0214 a0001c0007t0014g0137 a0001c0007t0022g0181 a0002c0016t0002g0086 a0002c0016t0002g0116	8	278	0.0288	832	c.115 others(849): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCC TTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCC TCCACCCTCCCTTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCAC CCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCC CCCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCC TCCCCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCCT CCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCC TTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCC CTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTC CCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCC CCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCAC TCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCT CCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MICAL3_chr22_17782649_18029561	17877256	G G	GCTTATGG others(825): Show GCTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAA GTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAG GGAGGATTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGGAGGTTAGGGAGCTTAT GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTAGGGGAGCTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTGA GGGAGGGTTATGGAGGTTAGGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0144 a0008c0011t0001g0144	1	274	0.0037	832	c.224 others(851): Show c.2242-5234_2242-5233insTTCCCTAACCTCCCTAACCTCCATAA CCCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCC TAACCTCCATAACCTCCCTAACCTCCATAAGCTCCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCCTAACCTCCC TAACCTCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAGC TCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAGCTCCCT AACCTCCCTAACCTCCATAACCTCCCCTAACCTCCCTAACCTCCATAACC TCCCTAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCCT AACCTCCATAAGCTCCCTAACCTCCCCTAACCTCCATAACTTCCCTAACC TCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCAT AACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCT CCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTA ATCCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCT CCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTC CATAAG	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(825): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGAAGGAGGGGAAAGGGGTGGGGGGGAAGGGGGGAAGGGG AAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGG GGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGGAAAGGGGTGAGG GGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAG GGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGG GAGGGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGAGGGGGGAGGGGGGAG GGGAGGGGGGAGGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGGAAGGGAGGGGGAGGGGA GAGGGGAGGGAAGGGAGGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGG AGGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGGAGG GAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGG GAGGGGGGAGGGAAGGGAGGCGGGAGGGGGGAGGGAAGGGAGGGAGGGGG GAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	272	0.0037	832	c.250 others(847): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCCTCCCTCCCTTCCCTCCCCCCTCCCGCCTCCCTTCCCTCCCCC CTCCCCCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTC CTCCCTCCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCC CCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCCTCCCTTCCCTCCC CTCTCCCCTCCCCCTCCCTTCCCCTCCCTCTCCCCCTCCCTCTCTTCCCT CCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCCT CCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCC CTCCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCATCC TCCCCTCACCCCTTTCCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCT TCCCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCC TTTCCCCTTCCCCCCTTCCCCCCCACCCCTTTCCCCTCCTTCCCCTTCCC CCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCC TTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTT CCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCC CT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MRPL28_chr16_361969_375538	370338	G G	GCTACCCC others(825): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC ACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCG GCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCACTCACCCGCTACCCCTGCCCCCGGCACTCACCCCCTACCCCGGCC CCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCTCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCC CCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCAC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0060 a0001c0001t0008g0060	1	394	0.0025	832	c.-7- others(845): Show c.-7-114_-7-113insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGG GTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGC CGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGG GGGCCGGGGTAGGGGGTGAGTGCCGGGGGCAGGGGTAGCGGGTGAGTGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGTG CCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCCGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370338	G G	GCTACCCC others(825): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC ACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCG GCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCACTCACCCGCTACCCCTGCCCCCGGCACTCACCCCCTACCCCGGCC CCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCTCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCC CCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCAC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp1 HG02280.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0024 a0001c0001t0008g0024	2	394	0.0051	832	c.-7- others(845): Show c.-7-114_-7-113insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGG GTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGC CGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGG GGGCCGGGGTAGGGGGTGAGTGCCGGGGGCAGGGGTAGCGGGTGAGTGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGTG CCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCCGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370338	G G	GCTATCCC others(825): Show GCTATCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC ACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCG GCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCACTCACCCGCTACCCCTGCCCCCGGCACTCACCCCCTACCCCGGCC CCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCTCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCC CCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCAC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0058 a0001c0001t0008g0058	1	394	0.0025	832	c.-7- others(845): Show c.-7-114_-7-113insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGG GTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGC CGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGG GGGCCGGGGTAGGGGGTGAGTGCCGGGGGCAGGGGTAGCGGGTGAGTGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGTG CCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCCGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGATAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370338	G G	GCTATCCC others(825): Show GCTATCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC ACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCG GCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCACTCACCCGCTACCCCTGCCCCCGGCACTCACCCCCTACCCCGGCC CCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCTCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCC CCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCAC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0057 a0001c0001t0008g0057	1	394	0.0025	832	c.-7- others(845): Show c.-7-114_-7-113insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGG GTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGC CGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGG GGGCCGGGGTAGGGGGTGAGTGCCGGGGGCAGGGGTAGCGGGTGAGTGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGTG CCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCCGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGATAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(825): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATA TATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATAT AAAATAAGATTTTATATATATTTTATATATATATAAAATCTTATTTTATA TATATATAAAATCTTATTTTATATATATATAAAATAAGATTTTATATATA TATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATA TAAAATAAGATTTTATATATATATAAAATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTT ATTTTATATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	330	0.0030	832	c.-5+ others(847): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATCTTATT TTATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTAT ATATATATATAAAATCTTATTTTATATATATATAAAATAAGATTTTATAT ATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAA ATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATA AAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATAT ATATAAAATATATATAAAGTAAGATTTTATATATATATAAAATATATATA AAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTTATATATATAT AAAATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAAT ATATATAAAATAAGATTTTATATATATATAAAATATATAAAAAATATATA TCAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAA TA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(825): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTAT ATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATAT AGTTAGTATATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19064.hp2 HG02280.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0268 a0002c0002t0001g0269	2	422	0.0047	832	c.195 others(849): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTA TATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATAT ACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATAT TATTAATATAGTTACTATATATTAATATATACTAACTATATTAATATAGT TACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(825): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGAGGGGAAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGG GGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGAAGGGGAG GGAGGAGGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGA GGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGAGGAGGGGGAGGGGAGGA GGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGG GGAGGAGGGGGAGGGAGGAGGGGGAGGGGAGGAGGGGGGAGGGGAGGAGG GGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGAGGGAGGGGAGGAGG GGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGG AAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGA GGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGA GGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTG CGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAA GAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0171 a0001c0005t0001g0171	1	208	0.0048	832	c.279 others(847): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCTCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCT CCCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCTCCCCCTCC TCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCC CCCTCCTCCCCTCCCCCTCCTCCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCC TCCCTCCCCTTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCC TCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTTCCCCTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCC CTCCCCCTTCCCCTCCCCTCCCCTTCCCCTCCCCTTCCCACCCCTCCCTT CTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCT TC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(825): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGA GGGGAAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGA GGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGG GGAGGAGGGGGAGGGGAGGAGGGGAGGAGGGGGAGGGAGGAGGGGGAGGG GAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGGGGAGGGGAG GAGGGGAGGGGAGGAGGGGGAGGGGGAGGAGGGGGGAGGGGAGGAGGGGA GGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGA GGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGAGGGGAGGGGAGGAGG GGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGG AAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGA GGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGA GGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTG CGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAA GAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0167 a0001c0005t0001g0167	1	208	0.0048	832	c.279 others(847): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCCCCTCCCCTCCCCCCCTCCCCTCC CCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCCCTCCTCCCCCTCCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCCTCCTCCCTCCCCCTCCTCCCCTCCTCCCCTCCCCCTCC TCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCC CCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCC CTCCCCCTTCCCCTCCCCTCCCCTTCCCCTCCCCTTCCCACCCCTCCCTT CTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCT TC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(825): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGG AGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGAAGGG GAGGGAGGAGGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGG GGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGG AGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGG AGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGG GGGGGAGGGGAGGGGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGG GGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGG AAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGA GGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGA GGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTG CGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAA GAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0170 a0001c0005t0001g0170	1	208	0.0048	832	c.279 others(847): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCCCCTCCCCTCC CCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCC CCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCT CCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCTCC CTCCCCTTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCC CCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCC CTCCCCCTTCCCCTCCCCTCCCCTTCCCCTCCCCTTCCCACCCCTCCCTT CTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCT TC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(825): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAA GGGGGAGGGGAAGGGGAGGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGG GAGGAGGGGGAGGGGGAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGA GGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAG GAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGA GGGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGG GGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGGGGAGAGGGGAGGGGAG GGGGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGAGG GGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGG AAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGA GGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGA GGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTG CGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAA GAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0186 a0004c0009t0001g0186	1	208	0.0048	832	c.279 others(847): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCC TCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCC CCCTCCTCCCCTCCTCCCTCCCCTTCCTCCCCCTCCTCCCCCTCCCCCTC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCTCTCCCCCTCCCCTTCCCCTCC CCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCC CTTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCACCCCTCCCTT CTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCT TC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NXN_chr17_794310_984776	949090	G G	GGCCTCCT others(825): Show GGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCTGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGC CTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCGCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCTCCT CCTCTCCCCCCTGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCCCCT GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTACTCT CCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	242	0.0041	832	c.360 others(851): Show c.360+30228_360+30229insAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGTAGGAGGCAGGGG GGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAG GCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGA GGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGG GGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGC GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGTAGGAGGCCGCGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCC GCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(825): Show CACACCACACACACCATACACACATACACACCACACACATACACACTCCA CACACACCACACATATATCACACACACCACATACACACTCCACACACACC ACACATACATCACACACACCATACACCACACACACACCACACACTACACA CCACACCCACCCACGCATACCACACATATCCCCTTACATACCACACACAT CCCCTACACACACGCCACATACACACACCATACACATCCCCCACAGACAC ACATACCCCTACATACCACACACATCCCCTACACACATGCCATACACACA CCATACACATCCCCCACAGACACACATACACACCACACACATACACAAAC ACTGCACACATACACACCCCACACATACAACACACACGACACACCACACA CATACACAAACACTGCACACATACACACCCCACACATACAACACACACGA CACACCACACAACCATACAGACACAAACACATACACCACACACACCACAT ACACAACAAACATGCCACACACAAATACCACACACACCACATACACACAC CCCCCATTCACCACACACCACATACACACCATTCACACTACACATACACT CCACACACACACCACATACGCACCATACACACCACACATATCTCCACACA CACACCACATACATACACATCCCATCCACACCACACACCCACACACACAC ACTCCAAACTCCACACACATACTCCAAACACCACACAAATACACCTACAC ACACATCACACACCCACACCACACACACACCACACAAACATGCCACACAC ATACCCCACACCATACACACACACACACCAAAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp2 HG02572.hp1 HG02976.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0011 a0001c0009t0003 a0001c0009t0011	a0001c0009t0003g0201 a0001c0009t0011g0205 a0001c0009t0003g0201 a0001c0009t0011g0205	2	316	0.0063	832	c.201 others(849): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGTGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTATGTGTGTGGAGTTT GGAGTGTGTGTGTGTGGGTGTGTGGTGTGGATGGGATGTGTATGTATGTG GTGTGTGTGTGGAGATATGTGTGGTGTGTATGGTGCGTATGTGGTGTGTG TGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGTGAAT GGGGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTTGT TGTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTGTG GTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGTGCAGTGTTTGT GTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGT GCAGTGTTTGTGTATGTGTGTGGTGTGTATGTGTGTCTGTGGGGGATGTG TATGGTGTGTGTATGGCATGTGTGTAGGGGATGTGTGTGGTATGTAGGGG TATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTATGTGGCGTGTGTGT AGGGGATGTGTGTGGTATGTAAGGGGATATGTGTGGTATGCGTGGGTGGG TGTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGTATGGTGTGTGTGATGTA TGTGTGGTGTGTGTGGAGTGTGTATGTGGTGTGTGTGATATATGTGTGGT GTGTGTGGAGTGTGTATGTGTGTGGTGTGTATGTGTGTATGGTGTGTGTG GTGT	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(825): Show CACACCACACACACCATACACACATACACACCACACACATACACACTCCA CACACACCACACATATATCACACACACCACATACACACTCCACACACACC ACACATACATCACACACACCATACACCACACACACACCACACACTACACA CCACACCCACCCACGCATACCACACATATCCCCTTACATACCACACACAT CCCCTACACACACGCCACATACACACACCATACACATCCCCCACAGACAC ACATACCCCTACATACCACACACATCCCCTACACACATGCCATACACACA CCATACACATCCCCCACAGACACACATACACACCACACACATACACAAAC ACTGCACACATACACACCCCACACATACAACACACACGACACACCACACA CATACACAAACACTGCACGCATACACACCCCACACATACAACACACACGA CACACCACACAACCATACAGACACAAACACATACACCACACACACCACAT ACACAACAAACATGCCACACACAAATACCACACACACCACATACACACAC CCCCCATTCACCACACACCACATACACACCATTCACACTACACATACACT CCACACACACACCACATACACACCATACACACCACACATATCTCCACACA CACACCACATACATACACATCCCATCCACACCACACACCCACACACACAC ACTCCAAACTCCACACACATACTCCAAACACCACACAAATACACCTACAC ACACATCACACACCCACACCACACACACACCACACAAACATGCCACACAC ATACCCCACACCATACACACACACACACCAAAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02451.hp1 HG02647.hp2 others(2): Show HG01167.hp1 HG02451.hp1 HG02647.hp2 HG02818.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0016 a0001c0002t0001g0168 a0001c0002t0001g0170	5	316	0.0158	832	c.201 others(849): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGTGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTATGTGTGTGGAGTTT GGAGTGTGTGTGTGTGGGTGTGTGGTGTGGATGGGATGTGTATGTATGTG GTGTGTGTGTGGAGATATGTGTGGTGTGTATGGTGTGTATGTGGTGTGTG TGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGTGAAT GGGGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTTGT TGTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTGTG GTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGCGTGCAGTGTTTGT GTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGT GCAGTGTTTGTGTATGTGTGTGGTGTGTATGTGTGTCTGTGGGGGATGTG TATGGTGTGTGTATGGCATGTGTGTAGGGGATGTGTGTGGTATGTAGGGG TATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTATGTGGCGTGTGTGT AGGGGATGTGTGTGGTATGTAAGGGGATATGTGTGGTATGCGTGGGTGGG TGTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGTATGGTGTGTGTGATGTA TGTGTGGTGTGTGTGGAGTGTGTATGTGGTGTGTGTGATATATGTGTGGT GTGTGTGGAGTGTGTATGTGTGTGGTGTGTATGTGTGTATGGTGTGTGTG GTGT	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
ORC5_chr7_104121341_104213013	104124116	A A	AGACAGTA others(825): Show AGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGGACTA CTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTGAGGA TGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGAG ACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTG AGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGT GGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAG TCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGT AAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACC ACAGTCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCAT GGGTAAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCA GACCACAGTCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTA TCATGGGTAAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATT TTCAGACCACAGTCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGC AGTATCATGGGTAAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAA TATTTTCAGACCACAGTCTGAGGATGACGGACAGTAACTGAACTCAAGGA AAGCAGTATCATGGGTAAGTGGGGACTACTGTATTTCTGGTGTTTTCCAT TTAATATTTTCAGACCACAGTCTGAGGATGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03491.hp2 HG03490.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0313 a0001c0001t0002g0314	2	366	0.0055	832	c.27 others(843): Show c.2731_*2732insCGTCATCCTCAGACTGTGGTCTGAAAATATTAAA TGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTGCTTT CCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAAATAT TAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTG CTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAA ATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGAT ACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCT GAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCA TGATACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTG GTCTGAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTA CCCATGATACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGAC TGTGGTCTGAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCA CTTACCCATGATACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTC AGACTGTGGTCTGAAAATATTAAATGGAAAACACCAGAAATACAGTAGTC TCCACTTACCCATGATACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCAT CCTCAGACTGTGGTCTGAAAATATTAAATGGAAAACACCAGAAATACAGT AGTCCCCACTTACCCATGATACTGCTTTCCTTGAGTTCAGTTACTGTC	ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding		2224		chr7	TogoVar
PGAP6_chr16_365788_386978	370338	G G	GCTACCCC others(825): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC ACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCG GCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCACTCACCCGCTACCCCTGCCCCCGGCACTCACCCCCTACCCCGGCC CCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCTCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCC CCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCAC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0049 a0002c0005t0006g0049	1	376	0.0027	832	c.16 others(843): Show c.1648_*1649insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGG GTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGG GCCGGGGTAGGGGGTGAGTGCCGGGGGCAGGGGTAGCGGGTGAGTGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGTGCC GGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTG CCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCCGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGG TGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		449		chr16	TogoVar
PGAP6_chr16_365788_386978	370338	G G	GCTACCCC others(825): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC ACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCG GCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCACTCACCCGCTACCCCTGCCCCCGGCACTCACCCCCTACCCCGGCC CCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCTCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCC CCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCAC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02886.hp2 HG02280.hp2 HG02886.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0050 a0002c0005t0006g0052 a0002c0005t0006g0050 a0002c0005t0006g0052	2	376	0.0053	832	c.16 others(843): Show c.1648_*1649insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGG GTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGG GCCGGGGTAGGGGGTGAGTGCCGGGGGCAGGGGTAGCGGGTGAGTGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGTGCC GGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTG CCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCCGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGG TGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		449		chr16	TogoVar
PGAP6_chr16_365788_386978	370338	G G	GCTATCCC others(825): Show GCTATCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC ACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCG GCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCACTCACCCGCTACCCCTGCCCCCGGCACTCACCCCCTACCCCGGCC CCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCTCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCC CCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCAC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0013	1	376	0.0027	832	c.16 others(843): Show c.1648_*1649insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGG GTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGG GCCGGGGTAGGGGGTGAGTGCCGGGGGCAGGGGTAGCGGGTGAGTGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGTGCC GGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCCGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGG TGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGATAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		449		chr16	TogoVar
PGAP6_chr16_365788_386978	370338	G G	GCTATCCC others(825): Show GCTATCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC ACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCG GCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCACTCACCCGCTACCCCTGCCCCCGGCACTCACCCCCTACCCCGGCC CCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCTCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCC CCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCAC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0013	1	376	0.0027	832	c.16 others(843): Show c.1648_*1649insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGG GTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGG GCCGGGGTAGGGGGTGAGTGCCGGGGGCAGGGGTAGCGGGTGAGTGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGTGCC GGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTG CCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCCGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGG TGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGATAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		449		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88713207	C C	CCGAGAGC others(825): Show CCGAGAGCCCCCTTTCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCC GGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAGGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCC ACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCTCTTCCCCGGGCCCTGACCCCCACTCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA18522.hp1 HG02257.hp1 NA18522.hp1	a0032 a0047 a0032 a0047	a0032c0034 a0047c0137 a0032c0034 a0047c0137	a0032c0034t0019 a0047c0137t0013 a0032c0034t0019 a0047c0137t0013	a0032c0034t0019g0192 a0047c0137t0013g0001 a0032c0034t0019g0192 a0047c0137t0013g0001	2	282	0.0071	832	c.23 others(843): Show c.2397_*2398insTATGAGTGGGGGTCAGGGCCCGGGGAAGAGGGCT CTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGG CATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTG GGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTATGAGTGGGGGTCAGGG CCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGA AGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGG CTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAG GGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCCTCTCGGGTATGAG TGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGT CAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCG GGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTC TCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTC AGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCG GGGAAGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG CTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGAAAGGGGGCTCTCG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2130		chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79483442	C C	CCCTCCCT others(825): Show CCCTCCCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTCCCTCCTTGCCTGC CTCCCTCCCTCCCTGCCTGCCTGCATCCCTCCCTCCTTCCCTCCCTGCCT GCCTACCTGCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTGCCTGC CTCCCTCCCTCCCTCCCTGCCTGCCTGCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCGTCCCTCCCTGCCTGTCTCCCTCCCTCCCTGCCTGC CTCCCTCCCTGCCTGCCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTGCCT GCCTCCCTCCCTTCCTGCCTGCCTCCCTCCCTGCCTGCCTGCCTCCCTCC CTCCCTCCCCACCTGCCTACCTCCCTCCTTCCCTGCCTCCCTCCTTCCCT GCCTCCCTCCCTCCCTGCCTCCCTGCCTACCTGCCTGCCTCCCTCCCTGC CTCCCTCCCTCCCTCCCTGCCTGCCTGCCTCCCTCCCTCCCTCCCTCCCT GCCTGCCTACCTGCCTGCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTGC CTGCCTCCCTCCCTCCTTCCCCACCTCCCTCCCTCCCTCCCTGCCTGTCT CCCTCCCTCCCTCCCTGCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTGC CTGCCTCCCTCCCTCCTTCCCTGCCTCCCTCCCTCCCTCCCTGCCTGTCT CCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTTC CTGCCTGCCTCCCTCCCTCCTTCCCCACCTCCCTCCCTCCCTCCCTGCCT GCCTCCCTCCCTCCCTCCCTGCCTGCCTGCCTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	154	0.0065	832	c.-31 others(849): Show c.-319-845_-319-844insCAGGCAGGCAGGCAGGGAGGGAGGGAGG GAGGCAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAGGAGGGAGGGAGGCA GGCAGGAAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGCAGGGAGGGAGG GAGGGAGACAGGCAGGGAGGGAGGGAGGGAGGCAGGGAAGGAGGGAGGGA GGCAGGCAGGGAGGGAGGGAGGGAGGCAGGGAGGGAGGCAGGGAGGGAGG GAGGGAGACAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAGGAGGGAGGGA GGCAGGCAGGGAGGGAGGGAGGGAGGCAGGGAGGGAGGCAGGCAGGTAGG CAGGCAGGGAGGGAGGGAGGGAGGGAGGCAGGCAGGCAGGGAGGGAGGGA GGGAGGCAGGGAGGGAGGCAGGCAGGTAGGCAGGGAGGCAGGGAGGGAGG GAGGCAGGGAAGGAGGGAGGCAGGGAAGGAGGGAGGTAGGCAGGTGGGGA GGGAGGGAGGGAGGCAGGCAGGCAGGGAGGGAGGCAGGCAGGAAGGGAGG GAGGCAGGCAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGCAGGCAGGGA GGGAGGCAGGCAGGGAGGGAGGGAGACAGGCAGGGAGGGACGGAGGGAGG GAGGGAGGGAGGCAGGGAGGGAGGGAGGCAGGCAGGCAGGGAGGGAGGGA GGGAGGCAGGCAGGGAGGGAGGGAGGGAGGCAGGGAGGGAGGGAGGCAGG TAGGCAGGCAGGGAGGGAAGGAGGGAGGGATGCAGGCAGGCAGGGAGGGA GGGAGGCAGGCAAGGAGGGAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGG GAGG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(825): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTC CCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAG AAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTG GGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAG AGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAG GAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAG GAGGAGGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGA GGCACAGGAGGAGGAGGAGGAGGCACAGGAGGA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03654.hp2 HG02071.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0041 a0001c0002 a0001c0041	a0001c0002t0001 a0001c0041t0010 a0001c0002t0001 a0001c0041t0010	a0001c0002t0001g0081 a0001c0041t0010g0082 a0001c0002t0001g0081 a0001c0041t0010g0082	2	203	0.0099	832	c.-12 others(851): Show c.-127+9348_-127+9349insTCCTCCTGTGCCTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTCCTCCTGTGCCT CCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTC TCCTCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGGCATCTGGG ACGTCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGG CATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCC TGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCGTCCTCCTGTTCTTCCTCT TCCTCCTCCTCCTCCTGTTCTTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCGGCATCTGGGACG TCCCCACAGTGTCCTAGCACCTGTTTCTCCTCCTCCTCCTCCTCCTGCTC CTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678994	G G	GATGGGAA others(825): Show GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTCAGGGTGA TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTC AGGGTGATGGAGAGGGGTCAGGGTGATGGGGAAAGGTCAGGGTGATGGGG AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGATG ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC AAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAG GGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTG GGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGT AAGGGGTCAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTG TGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG GTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATG GGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGG AGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0073 a0001c0003t0073	a0001c0003t0073g0071 a0001c0003t0073g0071	1	316	0.0032	832	c.257 others(851): Show c.2578-6881_2578-6880insTCATCTTGACCCCTCCCCATCACCCT GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACC CTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCC CATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGAC CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA TCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC TCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTG ACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGAC CCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACC CTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA TCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCTTTCCCCATCACCCTGACCCCTCTCCA TCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACAC CCCCCCATCACCCTGACCCCTTACCTGTAATGCTTGTAACCCTGACCCCT TCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC45A4_chr8_141202174_141313288	141203465	A A	AGAGAGAG others(825): Show AGAGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGAGAGAGGGAGAGGGA GAGAGGGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGACCGTGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGGACCGTGGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGG GAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGA GAGGGAGAGGAGGGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGAGAGAGAGGGGAGAGAGAGACCGTGGAGAGAGAGAGAGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG AGGAGAGAGAGAGAGAGGGATGAGAGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGA GAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGCGGAGAGAGGGAGAGAGGGAGAGAGAGACCGTGGAGAGAGGGA GAGGGAGACCGTGGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0018	1	188	0.0053	832	c.81 others(843): Show c.8106_*8107insCCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTC TCTCCCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCCCTCTC TCCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTCCACGGTCTCCCTCT CCCTCTCTCCACGGTCTCTCTCTCCCTCTCTCCCTCTCTCCGCTCTCCCT CTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTCTCCACGGTCTCTCTCT CCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCC CTCTCTCCCTCTCTCCCTCTCTCCTCTCATCCCTCTCTCTCTCTCTCCTC TCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTC TCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTC TCTCTCTCTCTCTCCACGGTCTCTCTCTCCCCTCTCTCTCTCTCTCCCTC TCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCCCTCCTCTCCCTCT CTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCTCCACGGTCTCTCTCTCC CTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCCACGGTCCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCCCTCTCT CCCTCTCCCTCTCTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3708		chr8	TogoVar
SPIRE2_chr16_89823475_89876319	89852526	T T	TCTCACCC others(825): Show TCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCC AGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCCCATGG CCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCACGGCCCATCTTCCA TCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCA CCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATC CCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCAT CTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCC CCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCC ATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTC CCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCC ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTC TCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCC CCCAGATCCCCTGGCCCATCTTCCATCCTCTCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03041.hp1 HG01167.hp2 HG03041.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0008 a0001c0008t0001g0011 a0001c0008t0001g0008 a0001c0008t0001g0011	2	356	0.0056	832	c.646 others(849): Show c.646-1759_646-1758insTCACCCCCCATATTCCATGGCCCATCTT CCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCC CCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCGG ATCCCACGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCC CATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATC CTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACC CCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCC CTGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTC ATCCGTCTTCTCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTC TCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCC ATGGCCCGTCATCCGTCTTCCCTCTCACCCCCCGGATCCCATGATCCGTC TTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCC ATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCGTC TTCCGTCCTCCCTCTCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTC TCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SUFU_chr10_102498972_102638535	102637512	A A	ATATTATA others(825): Show ATATTATATATTATATAACTATATATTATATATAATATATTATATATTAT ATAACTATATATTATATATAATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTTTATATTATATAACTATATATAA TATATAATATATATATTTTATATTATATAACTATATATTATATATAATAT ATAACTATATATTATATAACTATATATTATATATAATATATATATTATAT ATTATATAACTATATATTATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	268	0.0037	832	c.73 others(843): Show c.7357_*7358insTATTATATATTATATAACTATATATTATATATAA TATATTATATATTATATAACTATATATTATATATAATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTTTATATTA TATAACTATATATAATATATAATATATATATTTTATATTATATAACTATA TATTATATATAATATATAACTATATATTATATAACTATATATTATATATA ATATATATATTATATATTATATAACTATATATTATATATAATATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3978		chr10	TogoVar
TBC1D22A_chr22_46757650_47180693	46772609	T T	TATATATG others(825): Show TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0036 a0001c0001t0008g0036	1	112	0.0089	832	c.62+ others(847): Show c.62+9766_62+9767insTGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1273665	A A	ACACATCA others(825): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCACCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCTACGACCGC CATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCTACGACC GCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACC ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18952.hp2 NA18975.hp2 NA18944.hp1 NA18952.hp2 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0283 a0001c0003t0001g0006 a0001c0003t0001g0283	3	392	0.0077	832	c.228 others(851): Show c.2287-1386_2287-1385insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG TGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar

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Search Results (Total: 7053 hits)