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
ARHGEF10_chr8_1818926_1963641	1850159	T T	TGGACACA others(518): Show TGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGGCGGCCACGTGGACA TAGAGGGCAAATGCTGAGGAGGGCGTGGGGCGGCCACGTGGACATAGAGG GCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGGGCAAATGC TGAGGAGGGCTTGGGCGGCCACGTGGACACAGACAGCAAATGCTGAGGAG GGCGTGGGGCGACCATGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTG GGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGG CTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCAT GGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACAC AGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGG CAAATGCTGAGGAGGGTGTGGGGCGGCCACGTGGACACAGAGGGCAAATG CTGAGGAGGGCATTGGCTAGCCGCAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0008 a0008	a0008c0049 a0008c0049	a0008c0049t0006 a0008c0049t0006	a0008c0049t0006g0001 a0008c0049t0006g0001	2	363	0.0055	525	c.37+ others(540): Show c.37+6765_37+6766insGTGGACATAGAGGGCAAATGCTGAGGAGGG CGTGGGGCGGCCACGTGGACATAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCGTGGACACAGGGCAAATGCTGAGGAGGGCTTGGGCGGCCACG TGGACACAGACAGCAAATGCTGAGGAGGGCGTGGGGCGACCATGTGGACA CAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGG GCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAAT GCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAG GAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGC GTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGG CGGCCACGTGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGCCG CAGGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGGCGGCCAC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(518): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCC CACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCAC ACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACT ACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCA TCACCCGCACACTACCCACCCCATCACCCGCACACTACCCACCCCATCAC CCGCACACTACCCAGGCCCATCACCCCGCTACCCACCCCATCACCCCCAC ACTACCCACCCCATCACCCCCACGCCACCCACCCCATCACCCCCACGCCG CCCACCCCATCACCCCCACGCCACCCACCCCATCACCCCCACGCCGCCCA CCCCCATCACCCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCACC CCATCACCCCCACGCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18980.hp2 NA18995.hp1 others(1): Show HG02027.hp2 NA18980.hp2 NA18995.hp1 NA19080.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0007 a0003c0004t0002g0072 a0003c0004t0002g0082 a0003c0004t0002g0007 a0003c0004t0002g0072 a0003c0004t0002g0082	4	334	0.0120	525	c.147 others(542): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACA CTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTA CCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCAT CACCCGCACACTACCCACCCCATCACCCGCACACTACCCACCCCATCACC CGCACACTACCCAGGCCCATCACCCCGCTACCCACCCCATCACCCCCACA CTACCCACCCCATCACCCCCACGCCACCCACCCCATCACCCCCACGCCGC CCACCCCATCACCCCCACGCCACCCACCCCATCACCCCCACGCCGCCCAC CCCCATCACCCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCC CATCACCCCCACGCCGCCCACCCCATCACCCCCACACTACCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(518): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCC CACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCAC ACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACT ACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCA TCACCCGCACACTACCCACCCCATCACCCGCACACTACCCACCCCATCAC CCGCACACTACCCAGGCCCATCACCCCGCTACCCACCCCATCACCCCCAC ACTACCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCA CCCACCCCATCACCCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCC ACCCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACC CCATCACCCCCACGCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0076 a0003c0004t0002g0076	1	334	0.0030	525	c.147 others(542): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACA CTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTA CCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCAT CACCCGCACACTACCCACCCCATCACCCGCACACTACCCACCCCATCACC CGCACACTACCCAGGCCCATCACCCCGCTACCCACCCCATCACCCCCACA CTACCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCAC CCACCCCATCACCCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCA CCCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCC CATCACCCCCACGCCGCCCACCCCATCACCCCCACACTACCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF1_chr12_50759101_50826162	50823525	A A	ATATTATA others(518): Show ATATTATATATATAATCTATATTATATATAATATAGATTATATATATAAT CTATATTATATATATAATCTATATTATATATAATATAGATTATATATATA ATCTATATTATATAATCTATATTATATATAATATAGATTATATATATAAT CTATATTATATATAATATAGATTATATATATAATCTATATTATATAATCT ATATTATATATAATATAGATTATATATATAATCTATATTATATAATCTAT ATTATATATAATATAGATTATATATATAATCTATATTATATAATCTATAT TATATATAATATAGATTATATATATAATCTATATTATATAATCTATATTA TATATAATATAGATTATATATATAATCTATATTATATAATCTATATTATA TATAATATAGATTATATATATAATCTATATTATATAATCTATATTATATA TAATATAGATTATATATATAATCTATATTATATAATCTATATTATATATA ATATAGATTATATATATAATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0298 a0001c0002t0007g0298	1	382	0.0026	525	c.37 others(536): Show c.3746_*3747insTATTATATATATAATCTATATTATATATAATATA GATTATATATATAATCTATATTATATATATAATCTATATTATATATAATA TAGATTATATATATAATCTATATTATATAATCTATATTATATATAATATA GATTATATATATAATCTATATTATATATAATATAGATTATATATATAATC TATATTATATAATCTATATTATATATAATATAGATTATATATATAATCTA TATTATATAATCTATATTATATATAATATAGATTATATATATAATCTATA TTATATAATCTATATTATATATAATATAGATTATATATATAATCTATATT ATATAATCTATATTATATATAATATAGATTATATATATAATCTATATTAT ATAATCTATATTATATATAATATAGATTATATATATAATCTATATTATAT AATCTATATTATATATAATATAGATTATATATATAATCTATATTATATAA TCTATATTATATATAATATAGATTATATATATAATCTATAT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2364		chr12	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(518): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC TCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGC AGAGCCAGCCCCGTCCGGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	525	c.36 others(536): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCC CCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGC GTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGTGCA others(518): Show TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	391	0.0026	525	c.36 others(536): Show c.3604_*3605insGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
B4GALNT4_chr11_364499_387117	375140	A A	AGGAAGGG others(518): Show AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAGGGGAGGGAGGA GGAGGGGAGGGAGGAGGAGGGGAGGGAGGAGGAGGGGAGGGAGGGAGGAG GGGAGGGAGGGAGGAGGAAGGGAGGGGAGGGAGGGAGGGAGGAGGAAGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGG AGGAAGGGAGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGAGGAAGG GGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGG GAGGTGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAGGGAGGGAGGTG GAAGGAGGGAGGAGGAAGGGAGGGAGGAGGGAGGGAGGAGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGG GAGGGAGGAGGAAGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0157 a0003c0006t0001g0157	1	184	0.0054	525	c.784 others(540): Show c.784-321_784-320insGGAAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAGGGGAGGGAGGAGGAGGGGAGGGAGGAGGAGGGGAGGGAGGAG GAGGGGAGGGAGGGAGGAGGGGAGGGAGGGAGGAGGAAGGGAGGGGAGGG AGGGAGGGAGGAGGAAGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGGAGGGAGGAGGAAGGGAGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGAGGAAGGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGG GAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAAGGGAGGG AGGTGGAGGGAGGGAGGTGGAAGGAGGGAGGAGGAAGGGAGGGAGGAGGG AGGGAGGAGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19			chr11	TogoVar
BRD3OS_chr9_134020481_134036587	134025265	T T	TCCAGCCC others(518): Show TCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAAC AGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTT CAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCT CCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTC AGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATC CAGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTC CCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCC CCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCA TCCAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCC CTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTT CCTCCTTCAGCCCCTCCTCCTCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0001 a0001c0001t0072g0001	1	334	0.0030	525	c.-10 others(536): Show c.-1058_-1057insCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCC AGCTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATC CAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCT CCTCCAGCCCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCC AGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAG CCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTC CCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCT CCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCG CGCAGACCCTCACCATCCAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCC TTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTT CCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGC	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		215		chr9	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(518): Show CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCC TCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTT CAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCAT CCAGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCT CCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTC CCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACC ATCCAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCC CCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCT TCCTCCTTCAGCCCCTCCTCCTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01993.hp2 HG02523.hp2 others(11): Show HG00423.hp1 HG01993.hp2 HG02523.hp2 HG03834.hp1 NA18960.hp2 NA18961.hp2 NA18966.hp2 NA18971.hp2 NA18973.hp1 NA18983.hp1 NA18989.hp2 NA18993.hp2 NA19003.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0066 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0066 a0001c0001t0085	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0066g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0066g0001 a0001c0001t0085g0001	14	334	0.0419	525	c.-10 others(536): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTC CAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCA GCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCT CCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTC TCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTC GCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCC CTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCT TCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar
BSND_chr1_54993933_55022172	55003035	G G	GATAGTGA others(518): Show GATAGTGATGATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGAT GGTGAGAATGGTAATGGTGATGATAATAGTGATGATGATAATAGTGATAA TGATGGTGAGGATGGTGATGGTGACAATGGTGATGATGATGATGATGATA GTGATGATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTG AGAATGGTAATGGTGATGATAATAGTGATGATGATGGTGAGGATGGTGAT GGTGAAGATGGTGATGATGAGATTGGTGATAGAATGGTGATGGTAATGAC GATGTTGATGGTAATGAAGATGTCAATGATGGTGATGTGATGATAATGAT GGTAACGGTTATGATGATGGTGATGGTGATAATGATAATGGTGATGATGA TGGTAATGGTCACGATGGTGATAGTGATGATGATAGTGGTGATAATGATG GTGATGTTGATAATTTTGGTGGTGATAATAGTTATGGTGATGATTGATGG TAATGAGGATGAGGATGATGACGATT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02717.hp1 others(2): Show HG02257.hp1 HG02486.hp2 HG02717.hp1 HG02895.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0156 a0001c0001t0189 a0001c0001t0029 a0001c0001t0156 a0001c0001t0189	a0001c0001t0029g0032 a0001c0001t0029g0096 a0001c0001t0156g0032 others(1): Show a0001c0001t0029g0032 a0001c0001t0029g0096 a0001c0001t0156g0032 a0001c0001t0189g0119	5	448	0.0112	525	c.178 others(542): Show c.178-1985_178-1984insAGTGATGATGATGGTGATTAGGAGATGG TGATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGATAATAGTG ATGATGATAATAGTGATAATGATGGTGAGGATGGTGATGGTGACAATGGT GATGATGATGATGATGATAGTGATGATGATGGTGATTAGGAGATGGTGAT GATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGATAATAGTGATGA TGATGGTGAGGATGGTGATGGTGAAGATGGTGATGATGAGATTGGTGATA GAATGGTGATGGTAATGACGATGTTGATGGTAATGAAGATGTCAATGATG GTGATGTGATGATAATGATGGTAACGGTTATGATGATGGTGATGGTGATA ATGATAATGGTGATGATGATGGTAATGGTCACGATGGTGATAGTGATGAT GATAGTGGTGATAATGATGGTGATGTTGATAATTTTGGTGGTGATAATAG TTATGGTGATGATTGATGGTAATGAGGATGAGGATGATGACGATTAT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
C20orf96_chr20_265863_295750	279077	A A	AGGGCGGG others(518): Show AGGGCGGGACGGAGGGAGGGCGGGAGGGCGGGAGGGGCGGGACGGAGGGA GGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGAGGGAGG GAGGGAGGGACGGAGGGAGGAAGGGCGGGACAGAGGGAGGGAGGGAGGGA GGAAGGGCGGGACAGAGGGAGGGAGGGAGGGGAGGGAGGGGCGGGACAGA GGGAGGGAGGGAGGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAG GGAGGGACGGAGGGGAGGAAGGGCGGGACGGAGGGAGGGAGGGAGGGAGG GAGGGGAGGGACGGAGGGAGGAAGGGCGGGACGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCG GGAGGGGCGGGGACGGAGGGAGGGAGGGGCGGGACGGAGGGGAGGGCGGG AGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGGAGGGAGGGCGGGACGGA GGGAGGGCGGGAGAGGGCGGGAGGGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	410	0.0024	525	c.465 others(538): Show c.465+94_465+95insGCCCTCCCGCCCTCTCCCGCCCTCCCTCCGTC CCGCCCTCCCTCCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCGCC CTCCCCTCCGTCCCGCCCCTCCCTCCCTCCGTCCCCGCCCCTCCCGCCCT CCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCGTCCCGCCCTTCCTCCCTCCGTCCCTCCCCTCCCTCCC TCCCTCCCTCCCTCCGTCCCGCCCTTCCTCCCCTCCGTCCCTCCCTCCCT CCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCCTCCCTCCCTCCCTCTGTC CCGCCCCTCCCTCCCCTCCCTCCCTCCCTCTGTCCCGCCCTTCCTCCCTC CCTCCCTCCCTCTGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCCCTCCC TCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTC CGTCCCGCCCCTCCCGCCCTCCCGCCCTCCCTCCGTCCCGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(518): Show GAAGGGGGAGGAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGG AAGCGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGAAG TGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGG GAAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGAGGAAATGGGAGGAAGGG GGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGA GGAAGGGGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGGAAGGGGGAGGAA GGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGAGGAAGG GGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGCGGGA GGAAGGGGGGGGAAGGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGG AAGCGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGAAGGAA GGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0097 a0001c0001t0022g0097	1	234	0.0043	525	c.207 others(542): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCC CCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCCCCTTCCCCCCCCTTCCTC CCGCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCC TTCCTCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTT CCTCCCCCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCCTTCCTC CCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCC CTTCCTCCCATTTCCTCCCCCTTCCTCCCCCTTCCTCCCCCTTCCTTCCC CTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCCACT TCCCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCC CCCCCTTCCTCCCATTTCCTCCCCCTTCCTCCCACTTCCTCCCCCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CAMTA1_chr1_6780454_7774706	6940929	A A	AGGGGGGT others(518): Show AGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCA CGGGGAAGGGCATCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGAT CCTCAGGGGGAGGGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAG GGGGGGATCCTCCTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTC AGGGGGAGGGGGATCCTCACAGGGAGGGGATCCTCAGGGGGAGGTGGATC CTCACGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGG GATCCTCAGGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGA GGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCACGG GGAGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCA GGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGGATC CTCAGGGGGAGGGGGATCCTCACGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	58	0.0172	525	c.234 others(546): Show c.234+115719_234+115720insGGGGGGTCCTCAGAGGGAGAGGGA TCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAA GGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCAT GAGGAGGGGGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGT GGATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGA GGGGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGAGGATCCTCACGG GGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGAGGATCCTC ACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATC CTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGG ATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAG GGGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGG G	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22			chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88894228	A A	ACACACAC others(518): Show ACACACACATGCATACATATACACATGCACACAATGTACACACATGCACG CACACATGCACACACACATGCATACATATACACATGCACACAATGTACAC ACATGCACGCACACATGCACACACACATGCATACATATACACATGCACAC AATGTACACGCACGCACACATGCACACACACATGCATACATATACACATG CACACAATGTACACACATGCACGCACACATGCACACACACATGCATACAT ATACACATGCACACAATGTACACACATGCACGCACACATGCACACACACA TGCATACATATACACATGCACACAATGTACACACATGCACGCACACATGC ACACACACATGCATACATATACACATGCACACAATGTACACACATGCACG CACACATGCACACACACATGCATACATATACACATGCACACAATGTACAC ACATGCACGCACACATGCACACACACATGCATACATATACACATGCACAC AATGTACACACATGCACGCACACATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	284	0.0035	525	c.380 others(542): Show c.380-1744_380-1743insCATGTGTGCGTGCATGTGTGTACATTGT GTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGT GTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCG TGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGC ATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATG TGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATAT GTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCA TGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCGTGTACATTGT GTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGT GTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCG TGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88894266	C C	CACACATG others(518): Show CACACATGCACGCACACATGCACACACACATGCATACATATACACATGCA CACAATGTACACACATGCACGCACACATGCACACACACATGCATACATAT ACACATGCACACAATGTACACGCACGCACACATGCACACACACATGCATA CATATACACATGCACACAATGTACACACATGCACGCACACATACACACAC ACATGCATACATATACACATGCACACAATGTACACACATGCACGCACACA TGCACACACACATGCATACATATACACATGCACACAATGTACACACATGC ACGCACACATGCACACACACATGCATACATATACACATGCACACAATGTA CACACATGCACGCACACATGCACACACACATGCATACATATACACATGCA CACAATGTACACACATGCACGCACACATGCACACACACATGCATACATAT ACACATGCACACAATGTACACACATGCACGCACACATGCACACACACATG CATACATATACACATGCACACAATGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	284	0.0035	525	c.380 others(542): Show c.380-1782_380-1781insACATTGTGTGCATGTGTATATGTATGCA TGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTAT ATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTG CATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTA CATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGC ATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATG TGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGT GTGTGTATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTA TGCATGTGTGTGTGCATGTGTGCGTGCGTGTACATTGTGTGCATGTGTAT ATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTG CATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGT	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CCDC6_chr10_59783747_59911556	59882522	G G	GGGGAGAA others(518): Show GGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGC GGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAG GAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAA GGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCC GGGGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0151 a0002c0004t0001g0151	1	288	0.0035	525	c.303 others(544): Show c.303+23599_303+23600insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CELSR1_chr22_46356174_46542620	46487657	A A	AGGGTGCA others(518): Show AGGGTGCAGGTGGGAGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGG GGTGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGTGCGGGGGAGGGG AGTCCAGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCCAGGGTGCAGG TGGGAGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGCGGGGG AGGGGAGTCCAGGGTGCAGGTGGGAGGCGCGGGGGAGGGGAGTCCAGGGT GCAGGTGGGAGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGTGC GGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCC AGGGTGCAGGTGGGAGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGG GGCGTGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGTGCGGGGGAGGGG AGTCCAGGGTGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCACGGA GGAGGGGAGTCCAGGGTGCAGGTGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02976.hp1 HG02258.hp2 HG02486.hp2 HG02976.hp1	a0005 a0010 a0024 a0005 a0010 a0024	a0005c0048 a0010c0069 a0024c0021 a0005c0048 a0010c0069 a0024c0021	a0005c0048t0001 a0010c0069t0005 a0024c0021t0001 a0005c0048t0001 a0010c0069t0005 a0024c0021t0001	a0005c0048t0001g0080 a0010c0069t0005g0001 a0024c0021t0001g0061 a0005c0048t0001g0080 a0010c0069t0005g0001 a0024c0021t0001g0061	3	104	0.0289	525	c.354 others(546): Show c.3545-23313_3545-23312insCCCACCTGCACCCTGGACTCCCCT CCTCCGTGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCTGGA CTCCCCTCCCCCGCACCCCCCACCTGCACCCTGGACTCCCCTCCCCCACG CCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCGCCTCCCACCTGCACC CTGGACTCCCCTCCCCCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCC CCGCACCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCGCCTCCCACCT GCACCCTGGACTCCCCTCCCCCGCGCCTCCCACCTGCACCCTGGACTCCC CTCCCCCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCGCCTCC CACCTGCACCCTGGACTCCCCTCCCCCGCGCCCCCCACCTGCACCCTGGA CTCCCCTCCCCCGCACCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCA CCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCGCCTCCCACCTGCACC C	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
COL21A1_chr6_56051590_56252580	56098598	T T	TATAGAAA others(518): Show TATAGAAATATATATGTAAATCTATATATAAATATATAAATATATATAAA TCTATATATAAATATATAAATATATATAAATCTATATATAAATATATAAA TATATATAAATCTATATATAAATATATAAATATATATAAATCTATATATA AATATATAAATATATATAAATCTATATATAAATATATAAATATATATAAA TCTATATATAAATATATAAATATATATAAATCTATATATAAATATATAAA TATATATAAATCTATATATAAATATATAAATATATATAAATCTATATATA AATATATAAATATATATAAATCTATATATAAATATATAAATATATATAAA TCTATATATAAATATATAAATATATATAAATCTATATATAAATATATAAA TATATAAATATATATAAATCTATATATAAATATATAAATATATATAAATA TATGTATAAATATAAATATATGTATAAATATATAAATATATATAAAAATA TATATATGAATATATAAAAAATATAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0010 a0001c0014t0010	a0001c0014t0010g0010 a0001c0014t0010g0010	1	264	0.0038	525	c.181 others(544): Show c.1812+2873_1812+2874insTTATATTTTTTATATATTCATATATA TATTTTTATATATATTTATATATTTATACATATATTTATATTTATACATA TATTTATATATATTTATATATTTATATATAGATTTATATATATTTATATA TTTATATATTTATATATAGATTTATATATATTTATATATTTATATATAGA TTTATATATATTTATATATTTATATATAGATTTATATATATTTATATATT TATATATAGATTTATATATATTTATATATTTATATATAGATTTATATATA TTTATATATTTATATATAGATTTATATATATTTATATATTTATATATAGA TTTATATATATTTATATATTTATATATAGATTTATATATATTTATATATT TATATATAGATTTATATATATTTATATATTTATATATAGATTTATATATA TTTATATATTTATATATAGATTTATATATATTTATATATTTATATATAGA TTTATATATATTTATATATTTATATATAGATTTACATATATATTTCTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178585729	T T	TACAGCCC others(518): Show TACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCT GGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCC CTGGTTGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAA CACTCCACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATG GCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTA CAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGG GGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCT GGATGGCGCTGGGGTAACGCTCCACAGCCCTGGATGGCGCTGGGGTAACG CTCCACAGCCCTGGATGGCGCTGGGGTAACGCTCCACAGCCCTGGATGGC GCTGGGGTAACGCTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACA GCCCTGGATGGCGCTGGGGTAATGCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0062 a0004c0006t0003g0062	1	236	0.0042	525	c.294 others(542): Show c.294+4174_294+4175insGGCATTACCCCAGCGCCATCCAGGGCTG TGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGCGTTACCCCAGCGC CATCCAGGGCTGTGGAGCGTTACCCCAGCGCCATCCAGGGCTGTGGAGCG TTACCCCAGCGCCATCCAGGGCTGTGGAGCGTTACCCCAGCGCCATCCAG GGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCC AGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTA GGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCA TCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTT ACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCAACCAGGG CTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAG CGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
CPNE4_chr3_131528569_132040014	131978218	A A	ATTTTATA others(518): Show ATTTTATATATATTTATATATATTTATATTTATATATATATTTTTATATA TATTTATATATATATTTTTATATATTTATATATATATTTTTATATAATTT ATATATATTTATATATATATTTATATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATATTTATATATATATTTATATATAT TTATATATTTATATATATATTTATATATATTTATATATATTTATATATTT ATATATATATTTATATATATTTATATATATTTATATATTTATATATTTAT ATATATTTATATATTTATATATATTTATATATTTATATATATATTTATAT ATATTTATATATTTATATATATATTTATATATATTTATATATTTATATAT TTATTTATATATATTTATATATTTATATATATATTTATATATATTTATAT ATTTATATATATTTATATATATTTATATATTTATATATATTTTTATATAT TTATATATATATTTATATATTTATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0091 a0001c0005t0015g0091	1	94	0.0106	525	c.-2+ others(542): Show c.-2+56348_-2+56349insATATAAATATATAAATATATATATAAAT ATATAAAAATATATATAAATATATAAATATATATAAATATATATAAATAT ATAAATATATATAAATATATATATAAATATATAAATATATATAAATAAAT ATATAAATATATAAATATATATAAATATATATATAAATATATAAATATAT ATAAATATATATATAAATATATAAATATATATAAATATATAAATATATAT AAATATATAAATATATAAATATATATAAATATATATAAATATATATATAA ATATATAAATATATATAAATATATATAAATATATATATAAATATATAAAT ATATATAAATATATATATAAATATATATATAAATATATATATAAATATAT ATAAATATATATATAAATATATATATAAATATATATATAAATATATATAA ATTATATAAAAATATATATATAAATATATAAAAATATATATATAAATATA TATAAAAATATATATATAAATATAAATATATATAAATATATATAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(518): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGGAGG GGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGGGGA GGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGG GAGGGGAAGGGGGAGACAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	216	0.0046	525	c.923 others(544): Show c.923-33074_923-33073insCCTCCCTCTGTCTCCCCCTTCCCCTC CCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCC TCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCC CCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTC CCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DDX51_chr12_132131594_132149319	132149182	C C	CACCACAC others(518): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCC TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0056 a0001c0001t0007g0056	1	334	0.0030	525	c.-48 others(536): Show c.-4887_-4886insAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTG GGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGT GGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTG AGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGCGAG GCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGCGAGGCGGCG GCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGCGAGGCGGCGGCACTC ACCGAGGGGATTGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGG GGATTAGGGGTGTGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTGGGGTGT GGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTG AGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4864		chr12	TogoVar
DECR2_chr16_396885_417482	397669	T T	TGTGTGGG others(518): Show TGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGTGGGGGTGTGGGGGGG GTGAGGGGTGAGGGGAGTCGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGG GGGGTGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGA AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGTGGGGTGGGGGGTGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGT GGTGGGGGGTGAGGGAGTCGGGGGTGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	367	0.0027	525	c.-42 others(536): Show c.-4295_-4294insGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGT GGGGGTGTGGGGGGGGTGAGGGGTGAGGGGAGTCGGGGGTGGGGTGGGGG GGTGAGGGAGTCGGGGGGGTGGGGGGTGGGGGTGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGG GTGGGGGGTGAGGGAAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGG GGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGTGGGGTGGGGGG TGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGTGGTGGGGGGTGAGGGAGTCGGGGGTGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4215		chr16	TogoVar
DIP2C_chr10_269201_694668	608701	C C	CCCACACA others(518): Show CCCACACACACACATCCCCCCCCACACACACACATCCCCCCCCACACACA CACATCCCCCCCACACACACACATCCCCCCCACACACACACATCCCCCCC ACACACACACATCCCCCCCCCACACACACATCCCCCCCCACACACACATC CCCCCCCCACACACACATCCCCCCCCCACACACACATCCCCCCCCCACAC ACACATCCCCCCCCCACACACACATCCCCCCCCCACACACACATCCCCCC CCACACACACACATCCCCCCCCACACACACACATCCCCCCCCACACACAC ATCCCCCCCCCACACACACATCCCCCCCCCACACACACATCCCCCCCCAC ACACACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACAT CCCCCCCCACACACACACATCCCCCCCCACACACACACATCCCCCCCCAC ACACACACATCCCCCCCCACACACACACATCCCCCCCACACACACACATC CCCCCCCACACACACACATCCCCCCA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	88	0.0114	525	c.85+ others(542): Show c.85+80792_85+80793insTGGGGGGATGTGTGTGTGTGGGGGGGGA TGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGT GGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGAT GTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGT GGGGGGGGATGTGTGTGTGGGGGGGGGATGTGTGTGTGGGGGGGGGATGT GTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGG GGGGATGTGTGTGTGGGGGGGGGATGTGTGTGTGGGGGGGGGATGTGTGT GTGGGGGGGGGATGTGTGTGTGGGGGGGGGATGTGTGTGTGGGGGGGGGA TGTGTGTGTGGGGGGGGATGTGTGTGTGGGGGGGGGATGTGTGTGTGTGG GGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTG TGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAJB6_chr7_157332004_157422439	157369659	C C	CAGGCCCC others(518): Show CAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTA TTAAACGGGCCCCTTCTTAACATCATTATTAAACAGGCCTTTCATAACGT TATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCAT AACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCC CTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACG GGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTAT TAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATT ATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATA ACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCC TTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGG GCCCCTTCTTCACATTGTTATTAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0349 a0001c0001t0008g0349	1	372	0.0027	525	c.346 others(542): Show c.346+2243_346+2244insAACATCATTATTAAACAGGCCTTTCATA ACGTTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTT TCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAG GCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTA AACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTA TTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCA CATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTT CATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGG CCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAA ACGGGCCCCTTCTTCACATTGTTATTAAAGAGGCCCCTTCTTAACATTAT TATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC4_chr11_64225548_64239281	64237081	C C	CGAGAGAG others(518): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGGGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	338	0.0030	525	c.28 others(536): Show c.2897_*2898insGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGGGAGAGAGAGAGAGAGAGAGAG	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2801		chr11	TogoVar
EBF2_chr8_25836725_26050413	26005369	T T	TATATAAT others(518): Show TATATAATATATATAATATATAATTATATAAAATATATAATATATTATAT ATTATATATATTATATAAATATATATATATTATATATAATTATATAAATA TATAATATATTACATATAATTATATATTATATATTATATATAATATATAA TTATATGTAATATATTATATATATTATATATTATATATATATTATATATA TAATATATTTTATATATTAAATTATATATAATATATAATATATATATAAT TTATATATATAAAATATATTATATATTATATAAATATATATATTTTATAT ATATAAAATATATATTTTATAATATATAATATAGAAATATATATTATATA ATATATAATTATATATAATTATATATTATATAATATATATTTCTATATTA TATATTTATAATGTATAATATATAAATATATTATAAATATATATTATATA CTATATAATGCATTATAAATATATTATATTTATATATTATAAATATATTA CATATTTATATATTATATATATAATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0216 a0001c0002t0003g0216	1	220	0.0046	525	c.551 others(544): Show c.551+27715_551+27716insTATTATATATATAATATATAAATATG TAATATATTTATAATATATAAATATAATATATTTATAATGCATTATATAG TATATAATATATATTTATAATATATTTATATATTATACATTATAAATATA TAATATAGAAATATATATTATATAATATATAATTATATATAATTATATAT TATATAATATATATTTCTATATTATATATTATAAAATATATATTTTATAT ATATAAAATATATATATTTATATAATATATAATATATTTTATATATATAA ATTATATATATATTATATATTATATATAATTTAATATATAAAATATATTA TATATATAATATATATATAATATATAATATATATAATATATTACATATAA TTATATATTATATATAATATATAATATATAATTATATGTAATATATTATA TATTTATATAATTATATATAATATATATATATTTATATAATATATATAAT ATATAATATATTATATATTTTATATAATTATATATTATATATATTATAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26005369	T T	TATATAAT others(518): Show TATATAATATATATAATATATAATTATATAAAATATATAATATATTATAT ATTATATATATTATATAATATATAATATATTATATATAATTATATAAATA TATAATATATTACATATAATTATATATTATATATTATATATAATATATAA TTATATGTAATATATTATATATATTATATATTATATATATATTATATATA TAATATATTTTATATATTAAATTATATATAATATATATTATATATATAAT TTATATATATAAAATATATTATATATTATATAAATATATATATTTTATAT ATATAAAATATATATTTTATAATATATAATATAGAAATATATATTATATA ATATATAATTATATATAATTATATATTATATAATATATATTTCTATATTA TATATTTATAATGTATAATATATAAATATATTATAAATATATATTATATA CTATATAATGCATTATAAATATATTATATTTATATATTATAAATATATTA CATATTTATATATTATATATATAATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0101 a0002c0003t0005g0101	1	220	0.0046	525	c.551 others(544): Show c.551+27715_551+27716insTATTATATATATAATATATAAATATG TAATATATTTATAATATATAAATATAATATATTTATAATGCATTATATAG TATATAATATATATTTATAATATATTTATATATTATACATTATAAATATA TAATATAGAAATATATATTATATAATATATAATTATATATAATTATATAT TATATAATATATATTTCTATATTATATATTATAAAATATATATTTTATAT ATATAAAATATATATATTTATATAATATATAATATATTTTATATATATAA ATTATATATATAATATATATTATATATAATTTAATATATAAAATATATTA TATATATAATATATATATAATATATAATATATATAATATATTACATATAA TTATATATTATATATAATATATAATATATAATTATATGTAATATATTATA TATTTATATAATTATATATAATATATTATATATTATATAATATATATAAT ATATAATATATTATATATTTTATATAATTATATATTATATATATTATAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EHMT1_chr9_137614005_137841127	137716247	G G	GTTGGTGT others(518): Show GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGGGGAGGAA GTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGT GGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGG GAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	170	0.0059	525	c.86- others(538): Show c.86-379_86-378insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGT CGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTG GGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26			chr9	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(518): Show TATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02074.hp2 HG02080.hp2 others(14): Show HG00735.hp1 HG02074.hp2 HG02080.hp2 HG02145.hp2 HG02523.hp1 HG02735.hp1 HG04184.hp2 NA18960.hp2 NA18971.hp1 NA18995.hp2 NA19055.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19081.hp2 NA19086.hp2 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0001 a0001c0001t0012 a0009c0012t0001 a0001c0001t0001 a0001c0001t0012 a0009c0012t0001	a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 others(14): Show a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0012g0331 a0009c0012t0001g0188	17	334	0.0509	525	c.-10 others(544): Show c.-10-18559_-10-18558insTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FKBP2_chr11_64236095_64249132	64237081	C C	CGAGAGAG others(518): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGGGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	525	c.-40 others(536): Show c.-4056_-4055insGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGGGAGAGAGAGAGAGAGAGAGAG	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		4013		chr11	TogoVar
FOXJ3_chr1_42171548_42340235	42222076	A A	AAGCAGGA others(518): Show AAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCA GGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGAAGA AGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAG AAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCA GAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGA AGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAG AAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCA GAAGAAGAAGAAGCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGC AGAAGAAGCAGAAGAAGCAGAAGAAGCAGAAGCAGCAGAAGCAGAAGCAG CAGAAGCAGAAGCAGCAGAAGCAGCAGAAGCAGAAGAAGCAGAAGCAGAA GCAGAAGCAGAAGCAGAAGCAGAAGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0222 a0006c0007t0003g0222	1	332	0.0030	525	c.528 others(542): Show c.528+5806_528+5807insGCTTCTGCTTCTGCTTCTGCTTCTGCTT CTGCTTCTGCTTCTTCTGCTTCTGCTGCTTCTGCTGCTTCTGCTTCTGCT GCTTCTGCTTCTGCTGCTTCTGCTTCTTCTGCTTCTTCTGCTTCTTCTGC TTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTG CTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCT TCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTC TTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTG CTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCT TCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTC TTCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTG CTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCT	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
FOXJ3_chr1_42171548_42340235	42222091	A A	AAGCAGGA others(518): Show AAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCA GGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGA AGAAGAAGCAGGAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAG AAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCA GAAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGA AGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAG CAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGA AGCAGAAGAAGCAGAAGAAGCAGAAGAAGCAGAAGCAGCAGAAGCAGAAG CAGCAGAAGCAGAAGCAGCAGAAGCAGAAGAAGCAGAAGCAGAAGCAGAA GCAGAAGCAGAAGCAGAAGCAGAAGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0221 a0001c0001t0009g0221	1	332	0.0030	525	c.528 others(542): Show c.528+5791_528+5792insGCTTCTGCTTCTGCTTCTGCTTCTGCTT CTGCTTCTGCTTCTGCTTCTTCTGCTTCTGCTGCTTCTGCTTCTGCTGCT TCTGCTTCTGCTGCTTCTGCTTCTTCTGCTTCTTCTGCTTCTTCTGCTTC TTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCT TCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTC TTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCTTCTG CTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCT TCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTCCTGCTTCTTCTTC TCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTG CTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCT	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
GPR35_chr2_240620480_240638159	240625988	A A	AGGGTGAG others(518): Show AGGGTGAGTCTCTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGGT CTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTCT GACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGC GAGGCTGTGACGGGGTCTCAGAGTGGGGTGAGGCTCTGATGGGGTCTCAG AGTGGGGTGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAGGCTGTGATGG GGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAG GCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAG CGGGGCGAGGCTGTGAGGGGTTCTCAGAGCGGGGCGAGGCTGTGACGGGG TCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTG TGACGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGG TGAGGCTCTGACGGGGTCTCAGAGCG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0082 a0009c0013t0002g0082	1	400	0.0025	525	c.-5+ others(538): Show c.-5+427_-5+428insTCTCTGACGGGGTCTCAGAGCGGGGTGAGGCT CTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAGCGGG GCGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTC AGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAGGCTCTGAT GGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAG GCTGTGATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGA GTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGG GGTCTCAGAGCGGGGCGAGGCTGTGAGGGGTTCTCAGAGCGGGGCGAGGC TGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGG GGCGAGGCTGTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGGTCT CAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
GSE1_chr16_85608322_85681200	85653206	C C	CCCCTCCT others(518): Show CCCCTCCTCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCC CTCCTCCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCTCCCCCCCCTCC TCCCCCCCCTCCTCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0246 a0010c0015t0001g0246	1	290	0.0035	525	c.427 others(542): Show c.427-1072_427-1071insCCCTCCTCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCC CCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCCCCCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(518): Show TCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCC TCCTCCCCCCCTCCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCCCCTCCTCCTC CTCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	290	0.0035	525	c.427 others(542): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCCT CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCC CCTCCTCCCCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HIGD1C_chr12_50947544_50975607	50948866	G G	GGGGGGAG others(518): Show GGGGGGAGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGG AGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGAGG GGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGAGGGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGG GAGGGGGATGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGAGG CGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGG AGGGGGGGAGGGGAGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	380	0.0026	525	c.-39 others(536): Show c.-3913_-3912insGGGGGAGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG GGAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGA GGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGAGGGGG GAGGGGAGGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGGGAGGGGGATGGGGAGGGGAGGGGGAGGGGGGAGGG GAGGGGGAGGGGAGGCGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGG GGGAGGGGAGGGGGGAGGGGGGGAGGGGAGGGGGGAGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3677		chr12	TogoVar
IFNAR1_chr21_33319970_33364864	33322899	A A	AATATATA others(518): Show AATATATACGGAATATATATACGGAATGTATATATATGGAATATATATAC GGAATGTATATACGGAATATATATATATGGAATATATATACGGAATATAT ATATATGGAATATATATACGGAATATATATATATGGAATATATATACGGA ATATATATATATGGAACATATATATACGGAATATATACATATGGAACATA TATATATGGAATATATACATATGGAACATATATATGGAATATATACATAT GGAACATATATATGGAATATATACATATGGAACATATATATGGAATATAT ACATATGGAACATATATATGGAATATATACATATGGAACATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATATGGAATATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0010 a0003c0003t0004g0010	1	323	0.0031	525	c.-21 others(536): Show c.-2157_-2156insATATATACGGAATATATATACGGAATGTATATAT ATGGAATATATATACGGAATGTATATACGGAATATATATATATGGAATAT ATATACGGAATATATATATATGGAATATATATACGGAATATATATATATG GAATATATATACGGAATATATATATATGGAACATATATATACGGAATATA TACATATGGAACATATATATATGGAATATATACATATGGAACATATATAT GGAATATATACATATGGAACATATATATGGAATATATACATATGGAACAT ATATATGGAATATATACATATGGAACATATATATGGAATATATACATATG GAACATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATGGAATATATATATATGGAATATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2070		chr21	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(518): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAG CCACCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCA CAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCC CACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGC CGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0183 a0002c0002t0001g0183	1	312	0.0032	525	c.-41 others(540): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACA GCCACCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCC CCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAG CCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(518): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGC CACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCAC AGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCC ACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCC CACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGC CGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp1 HG03579.hp1 HG02258.hp2 HG02965.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0175 a0001c0005t0001g0226 a0001c0005t0001g0227 a0001c0005t0001g0175 a0001c0005t0001g0226 a0001c0005t0001g0227	3	312	0.0096	525	c.-41 others(540): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAG CCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCA CAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCC CACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCC CCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCG CCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAG CCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(518): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCCCAGCCACC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGC CACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCAC AGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCC ACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCC CACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGC CGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG03471.hp2 HG02293.hp1 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0009 a0001c0005t0001g0198 a0001c0005t0001g0009 a0001c0005t0001g0198	2	312	0.0064	525	c.-41 others(540): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCCCAGCCAC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAG CCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCA CAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCC CACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCC CCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCG CCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAG CCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(518): Show TTATCTATATTATAGATATAGATATTATCTATATCTATATTATAGATAAT ATCTATAATATAGATATTATCTATATTATAGATAATATCTATAATATAGA TATTATCTATATTATAGATAATATCTATAATATAGATATAGATATTATCT ATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATT ATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAA TATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAG ATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAAT ATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTA TAATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATA TCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATTATC TATATTATAGATATTATCTATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0002 a0003c0026t0002	a0003c0026t0002g0385 a0003c0026t0002g0385	1	414	0.0024	525	c.480 others(540): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGA TATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATTA TAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTAT ATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTAT CTATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATA TTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATAGAT AATATCTATATCTATATTATAGATATTATCTATAATATAGATAATATCTA TATTATAGATATTATCTATAATATAGATAATATCTATATTATAGATATTA TCTATAATATAGATATAGATAATATCTATATCTATAATATAGATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
LHPP_chr10_124456823_124619141	124610929	A A	AGGGTGAG others(518): Show AGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGT GTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGA GGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTG AGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAG GGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGG AGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGG GTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGC GAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGA CGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTG CTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCG GGTGAGGGTGAGGGTGTTGACGGAGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02735.hp2 HG02738.hp1 others(6): Show HG01192.hp1 HG02735.hp2 HG02738.hp1 HG03130.hp2 NA18944.hp2 NA18947.hp2 NA19077.hp1 NA19081.hp2 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0002c0002t0001 a0004c0007t0003	a0001c0001t0001g0024 a0001c0001t0001g0100 a0001c0001t0001g0249 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0100 a0001c0001t0001g0249 a0001c0001t0003g0177 a0001c0001t0003g0182 a0001c0001t0003g0202 a0001c0001t0012g0027 a0002c0002t0001g0021 a0004c0007t0003g0215	9	260	0.0346	525	c.717 others(542): Show c.717-2318_717-2317insAGGGTGCTGATGGAGCGGGTGAGGGTGA GGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGG GTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAG GGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGG TGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTG ATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGT GAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGC GGGCGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTG TTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAG GGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGG AGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LINGO2_chr9_27932617_29218601	28189681	A A	AAGGAAGG others(518): Show AAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGAA GGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGG GAGGAAGAAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAA GGGAGGAAGGAAGGGAGGGAGGAGGAAGGAAGGGAGGGAGGAAGGAAGGA AGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAGGAAGGAAGG AAGGAAGGGAGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAGGAAGG AAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGA GGAAGAAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGA AGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAG GGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGAAGGAAGGAAGGAAGGGA GGAAGGAAGGAAGGAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0055 a0001c0001t0025g0055	1	62	0.0161	525	c.-36 others(546): Show c.-36+105526_-36+105527insCCCTCCCTTCCTCCTTCCTTCCTT CCTCCCTTCCTTCCTTCCTTCTTCCTCCCTCCCTTCCTTCCTTCCTTCCT CCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTTCTT CCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCC TTCCTTCCTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCTCCCTTCC TTCCTTCCTTCCTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCTCCCTCCCTTCCTTCCTC CCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTTCTTCC TCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTT CCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCC T	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LOC114841035_chr11_64236095_64249132	64237081	C C	CGAGAGAG others(518): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGGGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	525	c.-41 others(536): Show c.-4199_-4198insGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGGGAGAGAGAGAGAGAGAGAGAG	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		4013		chr11	TogoVar
LRRC27_chr10_132327193_132386508	132352157	C C	CCTCCGTG others(518): Show CCTCCGTGTGGGGCAGGTGCAGCGCTCGTGGTCTGCAGGGCGTTGCGTGC ATGGGCTCCCTTGTTTGTAGCCCCGAGGCCTCCGTGTGGGGCAGGCGCAG GTGCAGCGCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGC GCTGAGGCCTCCGTGTGGGGCAGGTGCAGCGCTCGTGGTCTGCAGGGCGT TGCGTGCATGGGCTCCCTTGTTTGTAGCCCCGAGGCCTCCGTGTGGGGCA GGCGCAGGTGCAGCGCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGG GGCAGGCGCAGGTGCAGCGCTCCGTGTGGGGCAGATGCTGAGGCCTCCGT GTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGT GTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGTGCAGCGCTCGTGGT CTGCAGGGCGTTGCGTGCATGGGCTCCCTTGTTTGTAGCCCCGAGGCCTC CGTGTGGGGCAGGCGCAGGTGCAGCG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0052 a0001c0009t0052	a0001c0009t0052g0282 a0001c0009t0052g0282	1	290	0.0035	525	c.107 others(542): Show c.1073+420_1073+421insTGCAGCGCTCGTGGTCTGCAGGGCGTTG CGTGCATGGGCTCCCTTGTTTGTAGCCCCGAGGCCTCCGTGTGGGGCAGG CGCAGGTGCAGCGCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGG CAGGCGCTGAGGCCTCCGTGTGGGGCAGGTGCAGCGCTCGTGGTCTGCAG GGCGTTGCGTGCATGGGCTCCCTTGTTTGTAGCCCCGAGGCCTCCGTGTG GGGCAGGCGCAGGTGCAGCGCTCCGTGTGGGGCAGGCGCTGAGGCCTCCG TGTGGGGCAGGCGCAGGTGCAGCGCTCCGTGTGGGGCAGATGCTGAGGCC TCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCC TCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGTGCAGCGCTC GTGGTCTGCAGGGCGTTGCGTGCATGGGCTCCCTTGTTTGTAGCCCCGAG GCCTCCGTGTGGGGCAGGCGCAGGTGCAGCGCTCCGTGTGGGGCAGG	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTATTCTA others(518): Show GTATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01261.hp2 HG02004.hp2 others(5): Show HG01070.hp2 HG01261.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02129.hp1 HG02300.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0092 others(5): Show a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0112 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0144	8	194	0.0412	525	c.71- others(538): Show c.71-766_71-765insGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(518): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCTGGCGGGGGGCTGACCCCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0069 a0004c0006t0001g0069	1	246	0.0041	525	c.171 others(542): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGCTGACCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(518): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGC GGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTG GCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCTGGCGGGGGGCTGACCCCC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0053 a0053	a0053c0077 a0053c0077	a0053c0077t0001 a0053c0077t0001	a0053c0077t0001g0020 a0053c0077t0001g0020	1	246	0.0041	525	c.171 others(542): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(518): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCTGGCGGGGGGCTGACCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02074.hp1 HG01099.hp1 HG02074.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0017 a0004c0006t0001g0077 a0001c0001t0001g0017 a0004c0006t0001g0077	2	246	0.0081	525	c.171 others(542): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)