Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(508): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATTCCATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	324	0.0031	515	c.115 others(532): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATGGAATATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77484974	T T	TGATGCTG others(508): Show TGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGAT TGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA TGGTGATTGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTG ATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGT GATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATATGGGTGAT GGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGCG ATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTG ATGGTGGTGATGGGGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0035 a0001c0001t0049g0035	1	150	0.0067	515	c.914 others(532): Show c.914-2446_914-2445insCTGGTGATTGTGGTGAAGGGGGTGATGG TGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGT GGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATGGT GGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGG TGATGGTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTG ATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTG ATGGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGT GGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGG TGATGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTG ATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484974	T T	TGATGCTG others(508): Show TGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGAT TGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA TGGTGATTGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTG ATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGT GATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATATGGGTGAT GGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGCG ATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTG ATGGTGGTGATGGGGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0137 a0001c0001t0034g0137	1	158	0.0063	515	c.860 others(532): Show c.860-2446_860-2445insCTGGTGATTGTGGTGAAGGGGGTGATGG TGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGT GGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATGGT GGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGG TGATGGTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTG ATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTG ATGGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGT GGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGG TGATGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTG ATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SIGIRR_chr11_400716_419999	412565	G G	GGAGGGGT others(508): Show GGAGGGGTGCTCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGGTG CCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCTCTG ACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCTGG ATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGG GGTGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGGTGC CCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCA TGTCTGGATACAGTCGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATG CAGTCGGCGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAG GGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGC TCTGACCATGTCTGGATACAGTCGGGCGGGGGGGGTGCTCAGCTCTGACC ATGTCTGGATGCAGTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19043.hp2 HG00423.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0008 a0001c0006 a0003c0008	a0001c0006t0001 a0003c0008t0001 a0001c0006t0001 a0003c0008t0001	a0001c0006t0001g0226 a0003c0008t0001g0024 a0001c0006t0001g0226 a0003c0008t0001g0024	2	242	0.0083	515	c.-15 others(534): Show c.-154+2257_-154+2258insGACTGCATCCAGACATGGTCAGAGCT GAGCACCCCCCCCGCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACC CCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACT GCATTCAGACATGGTCAGAGCTGGGCACCCCCGCCGACTGCATCCAGACA TGGTCAGAGCTGGGCACCCCCCCCCGACTGTATCCAGACATGGTCAGAGC TGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCTCC CCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCACCCCGACTGTAT CCAGACATGGTCAGAGCTGGGCACCTCCCCCCGACTGTATCCAGACATGG TCAGAGCTGGGCACCTCCCCCGACTGCATCCAGACATGGTCAGAGCTGAG CACCCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCCC CCGACTGTATCCAGACATGGTCAGAGCTGAGCACCCCTC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SKI_chr1_2223319_2315213	2280735	G G	GGACGCCC others(508): Show GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG GCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAG AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGC CCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCG GAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0187 a0002c0004t0001g0187	1	330	0.0030	515	c.970 others(534): Show c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATG CCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATC TTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAG AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGAC GCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1098236	A A	ACACCCAG others(508): Show ACACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCC TCTGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCC TCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCC CCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCC AGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTTTAACCCTCTGCAC ACCCAGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTCTAACCCTC TGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAAC CCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTC TAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCCCC CTTCTAACCCTCTGCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0077 a0001c0005t0013g0077	1	118	0.0085	515	c.125 others(532): Show c.125-3989_125-3988insAGCAGAGGGTTAGAAGGGGGCTTGGTGA GCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGG GCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGG CTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGG GGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTT AAAGGGGGCCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAG GGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGC AGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGCCTGGGC ATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(508): Show GTATATATATACACATAGTATATATATTCTACGTGTATATATATACACAT AGTATATATATTCTACGTATATATATACACATAGTATATATATTCTACGT ATATATATACACATAGTATATATATTCTACGTATATATATACACATAGTA TATATATTCTACGTATATATATACACATAGTATATATATTCTACGTATAT ATATACACATAGTATATATATTCTACGTGTGTATATATATACACATAGTA TATATATTCTACGTGTGTATATATATACACATAGTATATATATTCTACGT GTATGTATACACATATATACATAGAATATATATACTATGTGTATATATAT ACGTAGAATATATATACTATGTGTATATATACGTAGAATATATATACTAT GTGTGTATATATACGTAGAATATATATACTATGTGTATATATATACGTAG AATATATATACTATGTGTATATATATACGTAGAATATATATACTATGTGT ATATATATACGTAGAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0104 a0001c0001t0007g0104	1	182	0.0055	515	c.174 others(534): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTG TATATATATACACATAGTATATATATTCTACGTATATATATACACATAGT ATATATATTCTACGTATATATATACACATAGTATATATATTCTACGTATA TATATACACATAGTATATATATTCTACGTATATATATACACATAGTATAT ATATTCTACGTATATATATACACATAGTATATATATTCTACGTGTGTATA TATATACACATAGTATATATATTCTACGTGTGTATATATATACACATAGT ATATATATTCTACGTGTATGTATACACATATATACATAGAATATATATAC TATGTGTATATATATACGTAGAATATATATACTATGTGTATATATACGTA GAATATATATACTATGTGTGTATATATACGTAGAATATATATACTATGTG TATATATATACGTAGAATATATATACTATGTGTATATATATACGTAGAAT ATATATACTATGTGTATATATATACGTAGAATATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(508): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAG GGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGG AGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGG GGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	251	0.0040	515	c.34 others(524): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTCCCCCTCCCCCTCCC CCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(508): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAG GGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGG AGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGG GGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0101 a0001c0001t0013g0101	1	251	0.0040	515	c.34 others(524): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCCTCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(508): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAG GGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGG AGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGG GGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00544.hp1 others(7): Show HG00140.hp1 HG00323.hp2 HG00544.hp1 HG00738.hp1 HG01070.hp2 HG01099.hp1 HG01496.hp2 HG01943.hp1 HG01978.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0031 a0001c0001t0038	a0001c0001t0001g0001 a0001c0001t0001g0072 a0001c0001t0001g0091 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0072 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0143 a0001c0001t0019g0060 a0001c0001t0031g0114 a0001c0001t0038g0108	10	251	0.0398	515	c.34 others(524): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(508): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAG GGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGG AGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGGTGGGGAGGGGGAGGG GGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	251	0.0040	515	c.34 others(524): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCACCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(508): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGATGGGGA GGGGGAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAG GGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGG AGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGG GGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	251	0.0040	515	c.34 others(524): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCATCCCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(508): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAG GGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGG AGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGG GGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01934.hp2 HG01993.hp2 others(2): Show HG01928.hp2 HG01934.hp2 HG01993.hp2 HG02300.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0099 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0099	5	251	0.0199	515	c.34 others(524): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCCCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(508): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAATGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAG GGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGG AGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGG GGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	251	0.0040	515	c.34 others(524): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCATTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(508): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAG GGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGG AGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGG GGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	251	0.0040	515	c.34 others(524): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(508): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAAGGGGAGGGGGAGGTGGGAGGGGG AGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAGGGGGAGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAG GGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGG AGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGG GGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	251	0.0040	515	c.34 others(524): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCC CGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTC CCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCC CCCTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(508): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGATCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAACACAAAAATGAGCCTGGCATGGTGGCAGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAATAAATCA AAAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0319 a0004c0004t0003g0319	1	398	0.0025	515	c.43 others(526): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTTTTTTTTTT TTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CGCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCAT GCCAGGCTCATTTTTGTGTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTT TGTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTC CCACATAATAACTGTCTGGATCCCGTCTCTACTAAAAATACAAAAAATTA GCCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAG GCAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(508): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA CAAACAAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGG GCGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAAAAAATAATAAATCA AAAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	515	c.43 others(526): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTTTTTTT TTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCC AGGCTCATTTTTTGTGTTTTTTTTTTTGTTTGTTTGTTTGTTTGGTTTTT TGTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTC CCACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTA GCCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAG GCAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(508): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGG GCGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAAAAAATAATAAATCA AAAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG01074.hp1 others(31): Show HG00280.hp1 HG00733.hp1 HG01074.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG02080.hp2 HG02165.hp1 HG02300.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG03831.hp1 HG04115.hp1 HG04115.hp2 NA18612.hp1 NA18956.hp1 NA18968.hp2 NA18975.hp2 NA19006.hp2 NA19007.hp1 NA19070.hp2 NA19087.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0010 others(2): Show a0001 a0002 a0010 a0012 a0024	a0001c0001 a0002c0002 a0010c0010 others(2): Show a0001c0001 a0002c0002 a0010c0010 a0012c0014 a0024c0026	a0001c0001t0001 a0002c0002t0001 a0010c0010t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0010c0010t0001 a0012c0014t0001 a0024c0026t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0017 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0149 a0002c0002t0001g0210 a0002c0002t0001g0263 a0010c0010t0001g0009 a0010c0010t0001g0046 a0010c0010t0001g0047 a0010c0010t0001g0048 a0012c0014t0001g0044 a0024c0026t0001g0071	34	398	0.0854	515	c.43 others(526): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTTTTTTT TTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCC AGGCTCATTTTTTGTGTTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTT TGTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTC CCACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTA GCCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAG GCAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(508): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGG GCGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAAATAATAATAAATCA AAAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	398	0.0025	515	c.43 others(526): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTATTTTT TTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCC AGGCTCATTTTTTGTGTTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTT TGTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTC CCACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTA GCCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAG GCAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(508): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGG CGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAAAAAAATAATAAATCA AAAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01975.hp1 HG03239.hp1 others(6): Show HG00597.hp2 HG01975.hp1 HG03239.hp1 HG03942.hp2 HG04228.hp1 NA18940.hp1 NA18954.hp1 NA19076.hp1 NA19078.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0001 a0002c0002t0001 a0006c0006t0001 a0001c0001t0001 a0002c0002t0001 a0006c0006t0001	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0056 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0091 a0002c0002t0001g0031 a0002c0002t0001g0212 a0002c0002t0001g0256 a0006c0006t0001g0219	9	398	0.0226	515	c.43 others(526): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTTTTTTT TTTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCG CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGC CAGGCTCATTTTTTGTGTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTT TGTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTC CCACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTA GCCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAG GCAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(508): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGG CGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAAATAAATAATAAATCA AAAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0001	a0014c0021t0001g0329 a0014c0021t0001g0329	1	398	0.0025	515	c.43 others(526): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTTATTTT TTTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCG CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGC CAGGCTCATTTTTTGTGTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTT TGTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTC CCACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTA GCCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAG GCAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
TAF4_chr20_61969798_62070881	62057603	C C	CCAGCAAG others(508): Show CCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAG ACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGAC ACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCA GCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACA ATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACA GGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCA AGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATG GGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGC CTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAG ACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGG GCTCGGGGGCCAACCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 HG02559.hp2 HG01243.hp2 HG02257.hp2 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0005t0001g0211 a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0005t0001g0211	3	314	0.0096	515	c.136 others(534): Show c.1360+6847_1360+6848insAGGTTGGCCCCCGAGCCCCATTGTCT GTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGG TTGGCCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGGCCTGTGTCC GTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCCCCATTGTCTGT GGCCTGGTGTGTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTT GGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTC CTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCCCCATTGTCTGTGGC CTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGC CCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTT CCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCCCCATTGTCTGTGGCCTG GTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62057634	C C	CCTACACA others(508): Show CCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAA GACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGG GGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCT ACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGAC CTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGC TCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACA CACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTC AGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCG GGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACA CCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGG AAGGACGGACACAGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02886.hp2 others(1): Show HG01891.hp1 HG02451.hp2 HG02886.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0212 a0001c0005t0001g0213 a0001c0005t0001g0214 others(1): Show a0001c0005t0001g0212 a0001c0005t0001g0213 a0001c0005t0001g0214 a0001c0005t0001g0215	4	314	0.0127	515	c.136 others(534): Show c.1360+6816_1360+6817insACCTGTGTCCGTCCTTCCTGAGGTCT TGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACC TGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCCCCAT TGTCTGTGGCCTGGTGTGTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGC TGAGGTTGGCCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGGCCTG TGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGT CTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGA GGTTGGCCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGT CCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTG TGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGT TGGCCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TTCCTCCA others(508): Show TTCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCC ATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATC CCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACC CATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCC TCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCAC CCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCC TCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCCC ACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCTGCCCCACCCACCAC CCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCC TCCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTC CACCCCACCCATCCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03041.hp1 HG02886.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0093 a0001c0001t0015g0006 a0001c0001t0004g0093 a0001c0001t0015g0006	2	112	0.0179	515	c.142 others(536): Show c.1425+16592_1425+16593insTCCTCCACCCCACCCATCCCCCAT CCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCC CCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCA TCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATC CCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCG CCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATC CCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCG CCCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCC ATCCCTCCTCTGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTC CCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCA CCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12			chr22	TogoVar
TCF3_chr19_1604292_1657615	1628084	C C	CAGGGGAT others(508): Show CAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGC AGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0258 a0001c0003t0002g0258	1	352	0.0028	515	c.299 others(530): Show c.299-659_299-658insTGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTTCC GCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTG AGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(508): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATAAA AATTATATATATTATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATAAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATATAAATTATATATATTATATATAT ATAAAAATTATATATATTACATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0014 a0002c0002t0003g0014	1	272	0.0037	515	c.28 others(526): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATAAAAATTATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATAAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATATAAATTAT ATATATTATATATATATAAAAATTATATATATTACATATATATAAAAATT ATATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(508): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATAAA AATTATATATATTATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATAAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATATAAATTATATATATTATATATAT ATAAAAATTATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG03654.hp1 HG01515.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0014 a0002c0002t0003g0006 a0002c0002t0003g0014	2	272	0.0074	515	c.28 others(526): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATAAAAATTATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATAAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATATAAATTAT ATATATTATATATATATAAAAATTATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(508): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATAAA AATTATATATATTATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATAAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATATATAAATTATATATATTATATAT ATATAAAAATTATATATATTATATATATATAAAAATTATATATATATTAT ATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0070 a0002c0002t0003g0070	1	272	0.0037	515	c.28 others(526): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATAAAAATTATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATAAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATATATAAATT ATATATATTATATATATATAAAAATTATATATATTATATATATATAAAAA TTATATATATATTATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(508): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATAAA AATTATATATATTATATATATATAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATAAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATATAAATTATATATATTATATATAT ATAAAAATTATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0006	1	272	0.0037	515	c.28 others(526): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATAAAAATTATATATATTATATATATATAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATAAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATATAAATTAT ATATATTATATATATATAAAAATTATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204100	T T	TATACTAT others(508): Show TATACTATTATATCATCATATGATGATATACTATTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATACTATTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0069 a0001c0001t0040g0069	1	174	0.0058	515	c.41- others(532): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT ACTATTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(508): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCCTTCCTCC CTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCC CCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCT TCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTA TCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0038 a0002c0003t0002g0038	1	334	0.0030	515	c.657 others(530): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTT CCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT CCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(508): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCC CCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCT TCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTA TCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0055 a0002c0003t0002g0055	1	334	0.0030	515	c.657 others(530): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTT CCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT CCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
VCX3B_chrX_8459830_8471510	8467034	G G	GGGGAGGG others(508): Show GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG CGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0003 a0007c0006t0003	a0007c0006t0003g0005 a0007c0006t0003g0005	1	271	0.0037	515	c.65 others(524): Show c.651_*652insGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGGAGGGAGGAAGCGGTGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		525		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(508): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCT CCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTC TCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCC CTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCT CCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCC CCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCC CCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp1 HG02257.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0173 a0001c0001t0007g0189 a0001c0001t0007g0173 a0001c0001t0007g0189	2	246	0.0081	515	c.53- others(528): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTC CCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTC CCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCT GTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCC TCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCC TTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(508): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCC CCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03209.hp2 HG03130.hp2 HG03209.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0020c0034 a0001c0001 a0020c0034	a0001c0001t0007 a0020c0034t0005 a0001c0001t0007 a0020c0034t0005	a0001c0001t0007g0106 a0020c0034t0005g0089 a0001c0001t0007g0106 a0020c0034t0005g0089	2	246	0.0081	515	c.53- others(528): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCC TTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(508): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTG CCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCC TCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTC CTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0013 a0005c0020t0013	a0005c0020t0013g0144 a0005c0020t0013g0144	1	326	0.0031	515	c.483 others(530): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCC TCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTC CTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(508): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0001 a0018c0026t0001	a0018c0026t0001g0241 a0018c0026t0001g0241	1	326	0.0031	515	c.483 others(530): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(508): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	326	0.0031	515	c.483 others(530): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(508): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG04204.hp2 homoSapiens_chm13v2.hp1 HG00544.hp1 HG04204.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0292 a0001c0001t0004g0148 a0001c0002t0001g0266 a0001c0001t0001g0292 a0001c0001t0004g0148 a0001c0002t0001g0266	3	326	0.0092	515	c.483 others(530): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
YBEY_chr21_46281342_46302751	46292538	C C	CTCAGTGG others(508): Show CTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTCAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACACAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGAAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0389 a0001c0001t0001g0389	1	404	0.0025	515	c.339 others(532): Show c.339+1077_339+1078insCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTCAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGGAGTCA GCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293304	A A	AACTCTAG others(508): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAG ATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACACAAGTTAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	404	0.0025	515	c.339 others(532): Show c.339+1879_339+1880insATGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAG TTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCTTG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAG ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293342	G G	GTGCCCGG others(508): Show GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCC CGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCT CCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCT TGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0383 a0001c0001t0001g0383	1	404	0.0025	515	c.339 others(532): Show c.339+1897_339+1898insGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCA TGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAAT TCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCC TCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZNF365_chr10_62369369_62407450	62370800	C C	CATCATAT others(508): Show CATCATATATGATATATACATCATATATCACACATATGATATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATATATCA TATATCACACATATGATATATATCATACATATCACATATATCATATATAT CATACATATCACATATATCATATATATCATACATATCACATATATGATAT ATATCATATATATCACATATATCATATATATCATATATATCACATATATG ATATATATATCATATATATCACATATATGATATATATATCATATATATCA CATATATGATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	515	c.-36 others(526): Show c.-3672_-3671insATCATATATGATATATACATCATATATCACACAT ATGATATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATATATCATATATCACACATATGATATATATCATACATATCAC ATATATCATATATATCATACATATCACATATATCATATATATCATACATA TCACATATATGATATATATCATATATATCACATATATCATATATATCATA TATATCACATATATGATATATATATCATATATATCACATATATGATATAT ATATCATATATATCACATATATGATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3568		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975324	T T	TATGAATA others(509): Show TATGAATATTTAAATATTTTTATATTTAAATATTTATAGATAAATATATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAA TATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0028 a0002c0003t0028	a0002c0003t0028g0007 a0002c0003t0028g0007	1	306	0.0033	516	c.130 others(535): Show c.1308+1252_1308+1253insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTT ATCTATAAATATTTAAATATAAAAATATTTAAATATTCAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGATGG others(509): Show TGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGG ATAAATGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATG AGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTG GGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGT GGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGA TGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAA TGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAAATGGGTGGG TGGGATGGATAAATGGGTGGGTGGAATGGATAAATGAGTGGGTGGGATGG ATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGA GTGGGTGGGATGGCTAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02738.hp2 HG02683.hp1 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0332 a0001c0002t0001g0068 a0001c0002t0001g0332	2	357	0.0056	516	c.278 others(533): Show c.2787+965_2787+966insTTAGCCATCCCACCCACTCATTTAGCCA TCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACTCATTTATCCATTCCACCCACCCATTTATCCATCCCACCCACCCATTT AGCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCC CACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACT CATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCCATTTATC CATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCAC CCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACCCACTCAT TTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTATCCATCCATCCCACCCCATTTATCCATCCCACCC ACTCATTTATCCATCCCACCCACTCATTTATCCATCCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ACAP3_chr1_1287391_1312930	1289219	T T	TCCGTCCC others(509): Show TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCTGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	295	0.0034	516	c.43 others(527): Show c.4344_*4345insGGCAGAGACACGGGGGACGGGGCAGAGACACGGG ACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGG CAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGG ACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGGGCAGA GACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGAC GGGGCAGAGACACAGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGGGCAGGGACACGGGACGGGGCAGA GACACGGGGGACGGGGCAGAGACACGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3171		chr1	TogoVar
ADAP1_chr7_892900_959680	905365	G G	GGAAAGGA others(509): Show GGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAG AAAGGGAAAGGAGAAAGGGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAG GGAAAGGGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAGGGAGAAAGGAGA AAGGAGAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAG GAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGA GAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAGGGAGAAGGGAGAAGGGAG AAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAA GGGAAAGGAGAAGGGAGAAGGGAGAAGGGAGAAAGGAGAAAGGGAAAGGA GAAGGGAGAAGGGAGAAGGGAGAAAGGAGAAAGGGAAAGGAGAAGGGAGA AGGGAGAAGGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAA GGAGAAAGGAGAAAGGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	14	0.0714	516	c.389 others(531): Show c.389-194_389-193insTCCTTTCTCCTTTCTCCTTTCTCCTTTCTC CTTTCTCCTTTCCCTTTCTCCTTTCTCCCTTCTCCCTTCTCCCTTCTCCT TTCCCTTTCTCCTTTCTCCCTTCTCCCTTCTCCCTTCTCCTTTCCCTTTC TCCTTTCTCCCTTCTCCCTTCTCCCTTCTCCTTTCCCTTTCTCCTTTCTC CTTTCCCTTTCTCCTTTCTCCTTTCCCTTTCTCCTTTCTCCCTTCTCCCT TCTCCCTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTT CCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTCTCCTTTCTC CTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTCTCCTTTCTCCTTTCTCCC TTCTCCTTTCTCCTTTCCCTTTCTCCTTTCCCTTTCCCTTTCTCCTTTCT CCTTTCCCTTTCTCCTTTCCCTTTCTCCTTTCCCTTTCTCCTTTCCCTTT CTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TATACACG others(509): Show TATACACGTATATACGTATACGTGTACACACATATATATACGTATATACG TATACGTGTACACACACGTATATACGTATACGTGTACACACACGTATATA CGTATACGTGTACACACACGTATATACGTATACGTGTACACACACACGTA TATACGTATACGTGTACACACACACATATATACGTATACGTGTACACACA CGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACA CACACACACGTATATACGTATACGTGTACACACACACACGTATATACGTA TACGTGTACACACACATACACGTATATACGTATACGTGTACACACACATA CACGTATATACGTATACGTGTACACACATATACCTATACGTGTACACACA TATACGTATACGTGTACACACATATACACGTATACGTGTACACACATATA CACGTATACGTGTACACACACATACACGTATACGTGTACACACACATACA CGTATACGTGTACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19240.hp2 HG02280.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0038 a0001c0002t0054 a0001c0001t0038 a0001c0002t0054	a0001c0001t0038g0102 a0001c0002t0054g0133 a0001c0001t0038g0102 a0001c0002t0054g0133	2	169	0.0118	516	c.48- others(533): Show c.48-70583_48-70582insTACACGTATATACGTATACGTGTACACA CATATATATACGTATATACGTATACGTGTACACACACGTATATACGTATA CGTGTACACACACGTATATACGTATACGTGTACACACACGTATATACGTA TACGTGTACACACACACGTATATACGTATACGTGTACACACACACATATA TACGTATACGTGTACACACACGTATATACGTATACGTGTACACACACACG TATATACGTATACGTGTACACACACACACGTATATACGTATACGTGTACA CACACACACGTATATACGTATACGTGTACACACACATACACGTATATACG TATACGTGTACACACACATACACGTATATACGTATACGTGTACACACATA TACCTATACGTGTACACACATATACGTATACGTGTACACACATATACACG TATACGTGTACACACATATACACGTATACGTGTACACACACATACACGTA TACGTGTACACACACATACACGTATACGTGTACACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(509): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTGTATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATATAGTATATATATTCTGTATACAGAATATAT ATAGTATATATATTCTGTATACAGAATATATATACTATATATATTCTGTA TACAGAATATATATACTATATATATTCTGTATACAGAATATATATACTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTATATACAGAA TATATATATAGTATATATATTCTGTATACAGAATATATATACTATATATA TATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAATAT ATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0193 a0005c0010t0003g0193	1	236	0.0042	516	c.409 others(535): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATATAG TATATATATTCTGTATACAGAATATATATACTATATATATATTCTGTATA TAGAATATATATACTATATATATTCTATATACAGAATATATATAGTATAT ATATTCTGTATACAGAATATATATAGTATATATATTCTGTATACAGAATA TATATAGTATATATATTCTGTATACAGAATATATATACTATATATATTCT GTATACAGAATATATATACTATATATATTCTGTATACAGAATATATATAC TATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATATA GAATATATATACTATATATATTCTGTATATAGAATATATATACTATATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar

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