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
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCTT others(503): Show TTCCCCTTCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTC CTCCCTCCCCCCTTCCTCCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCT CCTCCTTCCCCCTTCCTCCCTCCCCCCTTCTCCCTTCCTCCCTTCCCCCT TCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCC TCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCTCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTC CTCCCTTCCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCT CCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	354	0.0028	510	c.69 others(521): Show c.6926_*6927insTCCCCTTCTCCCTCCCCCTTCCTCCCTCCCCCTT CCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCTCCTCCTTCCCCCTTCCTCCCTCCCCCCTTCTCCCT TCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTC TTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCTCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTT ATCCCTCCTCCCTTCCTCCCTTCCCCCCTTCCTCCCTTCCCCCTTCCTCC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC CCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP46_chr10_132803392_132947570	132820713	C C	CGCTGATG others(503): Show CGCTGATGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGTGCGCTGATGCG TGCTGTGTGAGCACTGATGTGTGCTGTGTGTGCTGATGTGTGCTGAGTGC TGATGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGCTGATGTGTGC TGTGTGTGCGCTGATGTGTGCTGTGTGAGCACTGATGTGTGCTGTGTGTG CTGATGTGTGCTGAGTGCTGATGTGTGCTGTGAGTGCTGATGTGTGCTGT GTGTGCACTGATGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGTGCACTG ATGTGTGCTGTGTGTGCTGATGTGTGCTGTGAGTGCTGATGTGTGCTGTG TGTGCACTGATGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGTGCGCTGA TGTGTGCTGTGTGAGCACTGATGTGTGCTGTGTGTGCTGATGTGTGCTGA GTGCTGATGTGTGCTGTGAGTGCTGATGTGTGCTGTGTGTGCACTGATGT GTGCTGTGTGT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0052 a0052	a0052c0067 a0052c0067	a0052c0067t0002 a0052c0067t0002	a0052c0067t0002g0013 a0052c0067t0002g0013	1	246	0.0041	510	c.711 others(529): Show c.7118-5800_7118-5799insACACACAGCACACATCAGTGCACACA CAGCACACATCAGCACTCACAGCACACATCAGCACTCAGCACACATCAGC ACACACAGCACACATCAGTGCTCACACAGCACACATCAGCGCACACACAG CACACATCAGCACACACAGCACACATCAGTGCACACACAGCACACATCAG CACTCACAGCACACATCAGCACACACAGCACACATCAGTGCACACACAGC ACACATCAGCACACACAGCACACATCAGTGCACACACAGCACACATCAGC ACTCACAGCACACATCAGCACTCAGCACACATCAGCACACACAGCACACA TCAGTGCTCACACAGCACACATCAGCGCACACACAGCACACATCAGCACA CACAGCACACATCAGCGCACACACAGCACACATCAGCACTCAGCACACAT CAGCACACACAGCACACATCAGTGCTCACACAGCACGCATCAGCGCACAC ACAGCACACATCAGCACACACAGCACACATCAGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132852177	A A	AATTCTCA others(503): Show AATTCTCAGATCCCGATCCACAGACGTGGTATGTTCCTCCATTTACTTAG ACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACTTA GGAATTCTCAGATCCCAATCCACAGACGTGGTATGTTCCTCCATTTACTT AGACATTCTCAGATCCCGATCCACAGACGTGGTATGTTCCTCCATTTACT TAAGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTAC TTAAGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTA TGTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTT ATGTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATT TACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCCAT TTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCCA TTTACTTAGAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0051 a0051	a0051c0105 a0051c0105	a0051c0105t0001 a0051c0105t0001	a0051c0105t0001g0239 a0051c0105t0001g0239	1	246	0.0041	510	c.557 others(527): Show c.5575-873_5575-872insGTCTAAGTAAATGGAGAAACATACCACG TCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCAC GTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCA CGTCTGTGGATCAGGATCTGAGAATTCCTACATAAATGGAGGAACATACC ACGTCTGTGGATCAGGATCTGAGAATTCCTACATAAATGGAGGAACATAC CACGTCTGTGGATCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACATA CCACGTCTGTGGATCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACAT ACCACGTCTGTGGATCGGGATCTGAGAATGTCTAAGTAAATGGAGGAACA TACCACGTCTGTGGATTGGGATCTGAGAATTCCTAAGTAAATGGAGGAAC ATACCACGTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAA CATACCACGTCTGTGGATCGGGATCTGAGAAT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132852218	T T	TTTACTTA others(503): Show TTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCC ATTTACTTAGGAATTCTCAGATCCCAATCCACAGACGTGGTATGTTCCTC CATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCT CCATTTACTTAAGAATTCTCAGATCCTGATCCACAGACGTAGTATGTTCC TCCAGTTACTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTC CTCCATTTACTTAAGAATTCTCAGATCCTGATCCACAGACGTGGTATGTT CCTCCATTTACGTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGT TCCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATG TTTCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTAT GTTTCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTA TGTTCCTCCAG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19066.hp2 NA19056.hp1 NA19066.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0152 a0005c0006t0001g0153 a0005c0006t0001g0152 a0005c0006t0001g0153	2	246	0.0081	510	c.557 others(527): Show c.5575-914_5575-913insCTGGAGGAACATACCACGTCTGTGGATC AGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACGTCTGTGGAT CAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACGTCTGTGGA TCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCACGTCTGTGG ATCAGGATCTGAGAATTCCTACGTAAATGGAGGAACATACCACGTCTGTG GATCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACATACCACGTCTGT GGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATACTACGTCTG TGGATCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACATACCACGTCT GTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCACGTC TGTGGATTGGGATCTGAGAATTCCTAAGTAAATGGAGGAACATACCACGT CTGTGGATCAGGATCTGAGAATGTCTAAGTAA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFD_chr19_854664_868641	866770	A A	ACCAGCGC others(503): Show ACCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCT CACCAGCGCTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCCGCACCCC TCGCCAGCGCTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCCGCACCC CTCGCCAGCGCTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCTGCACC CCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCCGCAC CCCTCACCAGCGCTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCCGCA CCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGC ACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCA CACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCT GCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCC CGCACCCCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	287	0.0035	510	c.35 others(521): Show c.3532_*3533insCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCG CGGGCCCGCACCCCTCACCAGCGCTCCCATCTCCTCTCCGTCCGCCCACT GCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCGCCCAC TGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCGCCCA CTGCGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCC GCCGCGGGCCCGCACCCCTCACCAGCGCTCCCATCTCCTCTCCGTCCGCC CACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCAC CCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCA CCCGCCGCGGGCCCACACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCC ACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTC CACCCGCCGCGGGCCCGCACCCCTCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3130		chr19	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(503): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAA AATATTTTATT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	402	0.0025	510	c.80- others(525): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATA TTTTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(503): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTATATATAAAATAAATATTTATTTTAATATTAAAATAAAT ATTTATTTTATATATTAAATAAATATTTATTTTATATATTAAAATAAATA TTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAA AATATTTTATT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19065.hp2 NA19056.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0147 a0001c0001t0001g0068 a0001c0001t0001g0147	2	402	0.0050	510	c.80- others(525): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTATATATAAAATAAATATTTATTTTAATATTAAAATAAATATTT ATTTTATATATTAAATAAATATTTATTTTATATATTAAAATAAATATTTA TTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATA TTTTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(503): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAA AATATTTTATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(9): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp2 HG01993.hp1 HG03492.hp1 HG03834.hp1 HG04204.hp2 NA18960.hp2 NA18989.hp1 NA18999.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0004c0003t0001 a0001c0001t0001 a0004c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0187 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0004c0003t0001g0001	12	402	0.0299	510	c.80- others(525): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATA TTTTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(503): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACACGTATATATACT CATATACATGTGTATATATACACGTATATATACTCATATACATGTGTATA TATACACGTATATATACTCATATACATGTGTATATATACACGTATATATA CTCATATACATGTGTATATATACACGTATATATACTCATATACATGTGTA TATATACACGTATATATACTCATATACATGTGTATATATACACGTATATA TACTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTG TATATATACGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 NA19240.hp1 HG02258.hp2 HG02451.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0088 a0001c0001t0001g0004 a0001c0001t0001g0088	3	372	0.0081	510	c.894 others(525): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACGTGTATATATAC ACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGTAT ATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGT ATATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(503): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACACGTATATATACT CATATACATGTGTATATATACACGTATATATACTCATATACATGTGTATA TATACACGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATA TACTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTG TATATATACGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01516.hp2 NA19060.hp1 HG00099.hp2 HG01516.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0090 a0001c0001t0001g0113 a0002c0002t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0113 a0002c0002t0001g0084	3	372	0.0081	510	c.894 others(525): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGT ATATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(503): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACACGTATATATACT CATATACATGTGTATATATACACGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATA TACTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTG TATATATACGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01257.hp1 HG01258.hp2 others(1): Show HG01256.hp1 HG01257.hp1 HG01258.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0112	4	372	0.0108	510	c.894 others(525): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGT ATATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(503): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACGTGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATA TACTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTG TATATATACGT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	372	0.0027	510	c.894 others(525): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGT ATATATACACGTATATATACACATGTATATGAGTATATATACACGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGT ATATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(503): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACACGTATATATA CTCATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTG TATATACACGTATATATACTCATATACATGTGTGTATATACGTGTATATA TACTCATATACATGTGTGTATATACGTGTATATATACTCATATACATGTG TGTATATACGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03688.hp1 HG00280.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0002 a0001c0001t0002 a0001c0013t0002	a0001c0001t0002g0170 a0001c0013t0002g0169 a0001c0001t0002g0170 a0001c0013t0002g0169	2	372	0.0054	510	c.894 others(525): Show c.894+741_894+742insACGTATATACACACATGTATATGAGTATAT ATACACGTATATACACACATGTATATGAGTATATATACACGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTAT ATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATAT GAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGT ATATACACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CKM_chr19_45301413_45327875	45325126	A A	AAGGAGGC others(503): Show AAGGAGGCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGACCACC CTGGCCAACGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCC GGACATGGTGGGACACACCTATAGTCTCAGCTACTCAGGAGGCCGAGATG GGAGGATCACTTGAGCCTGGGGAGGTGAGGCTGCGGTGAGCTGTGATCGC ACTGCTGCACTCCAGCCTTGGTGACAGAGCGAGACTGTGTCTAAAAAAAA AAACAAAAAACAAAAAACAATTGAACTGAGGGAGACAGAGCAGAAGGATG GACTCCAGAGCCTGAGAAGGGTAATAGGCCAGGTGCAGTGGCTCACACCT GTAATCCCAGCACTTTGGGAGGCCAAGGAGGAAGGATCCCTTGAGCCCAG GAGTTAGAGACTAGCCTCGGCAACATAGCTAAACCCCGTCTCCACAAAAA ATAAAAAAAACTACAAAAATTATCTGGGCGTAGTGGAGTGCATCTGTGGT CCCAGCTACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 NA18974.hp1 NA19000.hp2 others(1): Show HG00621.hp1 NA18974.hp1 NA19000.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0152 a0001c0001t0001g0249 a0001c0001t0001g0250 others(1): Show a0001c0001t0001g0152 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0002t0001g0055	4	392	0.0102	510	c.-23 others(521): Show c.-2325_-2324insGAGTAGCTGGGACCACAGATGCACTCCACTACGC CCAGATAATTTTTGTAGTTTTTTTTATTTTTTGTGGAGACGGGGTTTAGC TATGTTGCCGAGGCTAGTCTCTAACTCCTGGGCTCAAGGGATCCTTCCTC CTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGC CTATTACCCTTCTCAGGCTCTGGAGTCCATCCTTCTGCTCTGTCTCCCTC AGTTCAATTGTTTTTTGTTTTTTGTTTTTTTTTTTAGACACAGTCTCGCT CTGTCACCAAGGCTGGAGTGCAGCAGTGCGATCACAGCTCACCGCAGCCT CACCTCCCCAGGCTCAAGTGATCCTCCCATCTCGGCCTCCTGAGTAGCTG AGACTATAGGTGTGTCCCACCATGTCCGGCTAATTTTTGTATTTTTAGTA GAGACAGGGTTTCACCGCGTTGGCCAGGGTGGTCTTGAACTCCTGAGCTC AAGCAATCCTCCTGCCTCAGCCTCCT	CKM	ENSG00000104879.5	transcript	ENST00000221476.4	protein_coding		2252		chr19	TogoVar
COL19A1_chr6_69861556_70217468	69920971	T T	TATATATA others(503): Show TATATATATGATATATATCATATATACATATGATATATACATGATATATA TGATATATATGATACATATGATATATATGATATATATGATACATATGATA TATATGATATATATATGATACAAATGATATATATGATATATATGATATAT ATCAGATATATATATCATATATATCATATATATCATTTGTATCATATATA TATCATATATATCATATGTATCATATATATCATGTATATATCATATATAT CATATATATCATATATGTATTCATATATATCATATATTCATATATAATAT ATATTCATATATCATATATATTCATATATATCATATAAATTCATATATCA TATATATTCATATATATCATATATATTCATATATATATCATATATATTCA TATATATATCATATATATTCATATATATATCATATATATTCATATATATC ATATATATTCATATATATATCATATATATTCATATATATCATATATATTC ATATATATATC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0129 a0002c0009t0004g0129	1	182	0.0055	510	c.267 others(527): Show c.267-6936_267-6935insATATATGATATATATCATATATACATAT GATATATACATGATATATATGATATATATGATACATATGATATATATGAT ATATATGATACATATGATATATATGATATATATATGATACAAATGATATA TATGATATATATGATATATATCAGATATATATATCATATATATCATATAT ATCATTTGTATCATATATATATCATATATATCATATGTATCATATATATC ATGTATATATCATATATATCATATATATCATATATGTATTCATATATATC ATATATTCATATATAATATATATTCATATATCATATATATTCATATATAT CATATAAATTCATATATCATATATATTCATATATATCATATATATTCATA TATATATCATATATATTCATATATATATCATATATATTCATATATATATC ATATATATTCATATATATCATATATATTCATATATATATCATATATATTC ATATATATCATATATATTCATATATATATCAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(503): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATATTCATAT ATATCATATATATTCATATATATATCATATATATTCATATATATATCATA TATATTCATATATATATCATATATATTCATATATATATCATATATATTCA TATATATCATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19043.hp2 HG01884.hp1 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0003 a0001c0008t0004 a0001c0005t0003 a0001c0008t0004	a0001c0005t0003g0003 a0001c0008t0004g0004 a0001c0005t0003g0003 a0001c0008t0004g0004	2	182	0.0110	510	c.267 others(527): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(503): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGCGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG AGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCG TGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG TGTGTGTGAGC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0265 a0001c0005t0003g0265	1	272	0.0037	510	c.925 others(525): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGTGAGCG TGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATG AGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(503): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG AGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCG TGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG TGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0007 a0001c0051t0007	a0001c0051t0007g0202 a0001c0051t0007g0202	1	272	0.0037	510	c.925 others(525): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGTGTGAGCGTGTGTG AGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCG TGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATG AGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCLK1_chr13_35763652_36136382	35958114	C C	CCACCACC others(503): Show CCACCACCACTATAACCATCACCACCATCACCACTATAACCACCACTACC ACCACCACCATTATAACCATCACCACCACCACTATAACCACCATCATCAT CACCACCACTACCACTATGATAACCATCACCACCATCACTGCTATAACCA CCACCACCACCACTATAACCATCACCACCATCACCACTATAACCACCACC ACCACTATAACCACCATCATCACCACCACCACTATAACCACCATCATCAT CACCACCACTACCACTACTGTAACCATCACCACCATCACTGCTATAACCA CCACCACCATCACTATAACCATCACCACCATCACCACTATAACCACCACC ACCACCACCACCATTATAACCATCACCACCACCACTATAACCACCATCAT CATCACCACCACCACCACCACTATAACCATCACCACCATCACCACTATAA CCACCACTACCACCACCACCATTATAACCATCACCACCACCACTATAACC ACCATCATCAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0035 a0001c0003t0003g0035	1	230	0.0044	510	c.724 others(529): Show c.724-10658_724-10657insATGATGATGGTGGTTATAGTGGTGGT GGTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGG TGGTGATGGTTATAGTGGTGGTGGTGGTGGTGATGATGATGGTGGTTATA GTGGTGGTGGTGATGGTTATAATGGTGGTGGTGGTGGTGGTGGTTATAGT GGTGATGGTGGTGATGGTTATAGTGATGGTGGTGGTGGTTATAGCAGTGA TGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTT ATAGTGGTGGTGGTGATGATGGTGGTTATAGTGGTGGTGGTGGTTATAGT GGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGA TGGTGGTGATGGTTATCATAGTGGTAGTGGTGGTGATGATGATGGTGGTT ATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTAT AGTGGTGATGGTGGTGATGGTTATAGTGGTGGTG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62875266	C C	CCACCCCC others(503): Show CCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCC GCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCCCACCCGCACCCGCACCCGCACCCCCACCCTCACCCTCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCC CCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCGCACCCCC ACCCTCACCCTCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCC CCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCTCACCCGC ACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0001 a0002c0020t0001	a0002c0020t0001g0214 a0002c0020t0001g0214	1	320	0.0031	510	c.39 others(521): Show c.3966_*3967insAGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTG GGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGGG GGTGCGGGTGCGGGTGAGGGTGAGGGTGGGGGTGCGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGAGGGTGAGGGTGGG GGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2476		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875266	C C	CCACCCCC others(503): Show CCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCGCACCCGCACCCCCACCCTCACCCTCACCCGCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCC CCACCCCCACCCCCACCCCCACCCGCACCCGCACCCGCACCCCCACCCTC ACCCTCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCC CCACCCCCACCCCCACCCCCACCCCCACCCCCACCCTCACCCTCACCCGC ACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0016 a0016	a0016c0045 a0016c0045	a0016c0045t0001 a0016c0045t0001	a0016c0045t0001g0175 a0016c0045t0001g0175	1	320	0.0031	510	c.39 others(521): Show c.3966_*3967insAGGGTGGGGGTGCGGGTGAGGGTGAGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGCGGGTGAGGGTGAGGGTGGGGGTGCGGGTGCGGG TGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTG CGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGAGGGTGAG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTG CGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2476		chr20	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGGT others(503): Show TTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT AGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACT GTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGG TGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTGGTTGGTAGT ATTACTGTTGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0002 a0002c0053t0002	a0002c0053t0002g0118 a0002c0053t0002g0118	1	136	0.0074	510	c.47- others(527): Show c.47-23091_47-23090insGTGATGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT AGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACT GTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGGTGATGGTGGTTGGTAGTATTAC TGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
EML1_chr14_99788413_99947060	99927939	A A	ATGGTGGT others(503): Show ATGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GATGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0006 a0003c0002t0006	a0003c0002t0006g0088 a0003c0002t0006g0088	1	288	0.0035	510	c.190 others(529): Show c.1909+7071_1909+7072insAGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM240C_chr2_241888988_241905464	241896810	T T	TGTTGGGG others(503): Show TGTTGGGGTGTGGGTGTGGGGGTGTGGGTGAAGGGGTGTGGGTGTTGGGG TGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTG AAGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGTGTGTGTGTTGGGGTG TGGGTGAAGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGTT GGGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTG GGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGAAGG GGTGTGTGTGTTGGGGTGTGGGTGAAGGGGTGTGGGTGAAGGGGTGTGGG TGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGG TGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTG AAGGGGTGTGTGTGTTGGGGTGTGGGTGAAGGGGTGTGGGTGTGGGGGTG TGGGTGTTGGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01943.hp1 HG02922.hp1 others(2): Show HG01070.hp2 HG01943.hp1 HG02922.hp1 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031	5	37	0.1351	510	c.161 others(525): Show c.161+375_161+376insCCCAACACCCACACCCCCACACCCACACCC CTTCACCCACACCCCAACACACACACCCCTTCACCCACACCCCAACACCC ACACCCCCACACCCACACCCCCACACCCACACCCCAACACCCACACCCCA ACACCCACACCCCAACACCCACACCCCAACACCCACACCCCTTCACCCAC ACCCCTTCACCCACACCCCAACACACACACCCCTTCACCCACACCCCAAC ACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACACCCACAC CCCCACACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACAC CCACACCCCCACACCCACACCCCTTCACCCACACCCCAACACACACACCC CTTCACCCACACCCCAACACCCACACCCCTTCACCCACACCCCAACACCC ACACCCCCACACCCACACCCCCACACCCACACCCCAACACCCACACCCCT TCACCCACACCCCCACACCCACACCCCAAC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FAM240C_chr2_241888988_241905464	241896810	T T	TGTTGGGG others(503): Show TGTTGGGGTGTGGGTGTGGGGGTGTGGGTGAAGGGGTGTGGGTGTTGGGG TGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTG AAGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGTGTGTGTGTTGGGGTG TGGGTGAGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGTT GGGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTG GGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGAAGG GGTGTGTGTGTTGGGGTGTGGGTGAAGGGGTGTGGGTGAAGGGGTGTGGG TGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGG TGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTG AAGGGGTGTGTGTGTTGGGGTGTGGGTGAAGGGGTGTGGGTGTGGGGGTG TGGGTGTTGGG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	37	0.0270	510	c.161 others(525): Show c.161+375_161+376insCCCAACACCCACACCCCCACACCCACACCC CTTCACCCACACCCCAACACACACACCCCTTCACCCACACCCCAACACCC ACACCCCCACACCCACACCCCCACACCCACACCCCAACACCCACACCCCA ACACCCACACCCCAACACCCACACCCCAACACCCACACCCCTTCACCCAC ACCCCTTCACCCACACCCCAACACACACACCCCTTCACCCACACCCCAAC ACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACACCCACAC CCCCACACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACAC CCACACCCCCACACCCACACCCCCTCACCCACACCCCAACACACACACCC CTTCACCCACACCCCAACACCCACACCCCTTCACCCACACCCCAACACCC ACACCCCCACACCCACACCCCCACACCCACACCCCAACACCCACACCCCT TCACCCACACCCCCACACCCACACCCCAAC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
GALR1_chr18_77244848_77282900	77252935	C C	CCATCACC others(503): Show CCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCAT CACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCACC ACCATCACCACCACCACCACCACCACCACCACCATCACCACCATCACCAT CACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACC ATCACCACCAT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0299 a0001c0001t0008g0299	1	366	0.0027	510	c.666 others(527): Show c.666+1723_666+1724insTCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCATCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCATCACCACCATCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCATCACCACCAC CACCATCACCACCACCACCATCACCACCATCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(503): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCTAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GGAGACGGAGC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	450	0.0022	510	c.146 others(527): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCTAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGA CGGAGCCTCACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTCTGGT others(503): Show ACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGC ACCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTGGGCCTCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGACACTCTGGTGGA GATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCC CTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTT CATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGCACCTCTTCCCT GTCCCGACACT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	370	0.0027	510	c.134 others(527): Show c.1344+327_1344+328insCTGGTGGAGATGCTGGGCCCCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCTGGTGGAG ATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCC TACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTC ATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCC ACCCCGACACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCC TCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGG TGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTG CCTCCTGCACCTCTTCCCTGTCCCGACACTCT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GUCY1A2_chr11_106669019_107023476	106710137	T T	TTATATAC others(503): Show TTATATACATGTATATAACATATAGTTATGTATATTATATACATGTATAT AACATATAGTTATGTATATTATATACATGTATATAACATATAGTTATGTA TATTATATACATGTATATAACATATAGTTATGTATATTATATACATGTAT ATAACATATAGTTATGTATATTATATACATGTATATAACATATAGTTATG TATATTATATACATGTATATAACATATAGTTATGTATATTATATACATGT ATATAACATATAGTTATGTATATTATATACATGTATATAACATATAGTTA TGTATATTATATACATGTATATAACATATAGTTATGTATATTATATACAT GTATATAACATATAGTTATGTATATTATATACATGTATATAACTATATGT ATATAATATATAGTACATGTATATAATATATAGTTATATATAATATAGTT ATATACATGTATATAATATATAGTTATATATAATAGTTATATATATTATA TACATGTATAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0106 a0001c0001t0045g0106	1	256	0.0039	510	c.183 others(529): Show c.1837-1472_1837-1471insTTATACATGTATATAATATATATAAC TATTATATATAACTATATATTATATACATGTATATAACTATATTATATAT AACTATATATTATATACATGTACTATATATTATATACATATAGTTATATA CATGTATATAATATACATAACTATATGTTATATACATGTATATAATATAC ATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTATA TACATGTATATAATATACATAACTATATGTTATATACATGTATATAATAT ACATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTA TATACATGTATATAATATACATAACTATATGTTATATACATGTATATAAT ATACATAACTATATGTTATATACATGTATATAATATACATAACTATATGT TATATACATGTATATAATATACATAACTATATGTTATATACATGTATATA ATATACATAACTATATGTTATATACATGTATATA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(503): Show TCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCACCAT CACCACCACCACCACCATCACCACCTCTACCACCACCATCACCACCACCA CTATCACCACCTCTACCACCACCATCACCACCACCACCACTACCACCTCT ACCACCACCATCACCACCACCACCACCATCACCTCTACCACCACCATCAC CACCACCACCACCATCACCTCTACCACCACCATCACCACCACCACCACCA CCACCACCTCTACCACCACCATCACCACCACCACCACCATCACCTCTACC ACCACCATCACCACCACCACCACCATCACCACCACCACCACCATCACCAC CTCTACCACCACCATCACCACCACCACTATCACCACCTCTACCACCACCA TCACCACCACCACCACCACCTCTACCACCACCATCACCACCACCACCACC ACCACCTCTACCACCACCATCACTACTACCACCACCACCATCACCACCTC TACCACCATCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0004 a0011c0021t0004	a0011c0021t0004g0074 a0011c0021t0004g0074	1	134	0.0075	510	c.520 others(531): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTG GTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGGTGAT GGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAG AGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399534	A A	ACCACCAT others(503): Show ACCACCATCACCACCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCA TCACCACCGCCACCACCACCACCATCACCACCACCACCATCACCATCATC ACCACCACCACCACCACCATCACCACCACCATCACCATCACCACCACCAT CACCACCGCCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCACCATCACCACCACCATCATCACCACCATCACCACCACC ATCATCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCATCACCACCACCATCATCACCA CCATCACCACCACCATCATCACCACCATCATCACCACCATCACCACCACC ATCACCACCATCACCATCATCACCACCATCACCGCCACCATCACCATCAC CACCACCACCG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	314	0.0032	510	c.-25 others(527): Show c.-25+2616_-25+2617insACCATCACCACCACCACCATCACCATCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ATCACCACCACCACCACCATCACCACCGCCACCACCACCACCATCACCAC CACCACCATCACCATCATCACCACCACCACCACCACCATCACCACCACCA TCACCATCACCACCACCATCACCACCGCCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCATCAT CACCACCATCACCACCACCATCATCACCACCATCACCACCGCCACCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCATC ACCACCACCATCATCACCACCATCACCACCACCATCATCACCACCATCAT CACCACCATCACCACCACCATCACCACCATCACCATCATCACCACCATCA CCGCCACCATCACCATCACCACCACCACCGCC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1_chr7_8108184_8267167	8152587	C C	CCACCACT others(503): Show CCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATC ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATC ACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCAC CACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCATCA CCACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACC ATCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 NA19240.hp1 HG02622.hp2 HG02717.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0002 a0001c0001t0012 a0001c0001t0014	a0001c0001t0002g0147 a0001c0001t0012g0003 a0001c0001t0014g0002 a0001c0001t0002g0147 a0001c0001t0012g0003 a0001c0001t0014g0002	3	274	0.0110	510	c.804 others(527): Show c.804+4528_804+4529insTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGAT GAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTG GAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGT GGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTG GAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAAT GGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAG AGGTGATGGTGGTAGTGCTGGGGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152787	A A	ACCTCCTC others(503): Show ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACCA CCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCATC ACCTCCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTAC CACCATCACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTA CCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCC TTCAACACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTAC CACCATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCA TCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACC ACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCAC CATCACCTCCT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	274	0.0037	510	c.804 others(527): Show c.804+4328_804+4329insAGGAGGTGATGGTGATAGTGGTGGGGGT AGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGG AGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTG GTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGT GATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGG TGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAG ATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGT GGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGGTAGTGGTGG GGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGAG GTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGT GGTTGTGGTGGTGGTGGTGATGGTGGAGGAGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
INS_chr11_2154779_2166209	2161890	C C	CACCCCTG others(503): Show CACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCGGGACCCTTGTCCCCAGACCCCTGTCCCCA CACCCCTGTCCCCAGACCCCTGTCCTCAGACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGAC CCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCGGGACCCTTGTCCCCAGACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCACACC CCTGTCCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	376	0.0027	510	c.-74 others(519): Show c.-741_-740insCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGAC AAGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCT GGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGA GGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAAGG GTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGG GGACAGGGGTGTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		682		chr11	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(503): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGAGGGGAGGCGGGGCTCGGGGGGTAGGTGGGG GCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGG AGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGG GGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCT CAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAG GCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGG GGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGG CTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGA GGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGG GGGGAGGCGGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0052 a0004c0008t0052	a0004c0008t0052g0247 a0004c0008t0052g0247	1	282	0.0036	510	c.623 others(527): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGAGGGGAGGCGGG GCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGA GAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGA GGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGG CTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGG CGGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGG AGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGG GGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGA GGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTG GAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAM3_chr11_134064072_134157001	134138274	G G	GAGAGAAA others(503): Show GAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGTGTCTC GTCTAAGTCATGGTGCTCATACTGAGAGAAATGTTTATGGCCAGTAGTCC CTTAGAGCCAGTGGTGGCGTCTCGTCAAAGTCGTGGTGCTCATACTGAGA GAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCA AAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTA GAGCCAGTGGTGGCGTCTCGTCGAAGTCGTGGTGCTCATACTGAGAGAAA TGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCAAAGT CGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGC CAGTGGTGGCGTCTCGTCTAAGTCATGGTGCTCATACTGAGAGAAATGTT TATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCTAAGTCGTG GTGCTCATACT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	390	0.0026	510	c.77- others(525): Show c.77-1577_77-1576insAGAGAAATGTTTATGGCCAATAGTCCCTTA GAGCCAGTGGTGGTGTCTCGTCTAAGTCATGGTGCTCATACTGAGAGAAA TGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCAAAGT CGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGC CAGTGGTGGCGTCTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTT TATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTG GTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGT GGTGGCGTCTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATG GCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCTAAGTCATGGTGC TCATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTG GCGTCTCGTCTAAGTCGTGGTGCTCATACT	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8			chr11	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(503): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCATAGCCACCCCCCCACAGCCACC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACA GCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCA CAGCCATCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCC CCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGC CCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	312	0.0032	510	c.-41 others(525): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCATAGCCACCCCCCCACAGCCAC CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCC ACAGCCATCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCC CCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTG CCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(503): Show TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATAATTCTATATATATAATATATATTAT ATATATAATTCTATATATATAATATATATTATATATATATTCTATATATA TAATATATATTATATATATAATTCTATATATATAATATATATTATATATA TATTCTATATATATAATATATATTATATATATAATTCTATATATATAATA TATATTATATATATAATTCTATATATAATATATATTATATATATAATTCT ATATATATAATATATATTATATATATAATTCTATATATATAATATATATT ATATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATATAATTCTATATATATAATATATATTATAT ATATAATTCTATATATATAATATATATTATATATATAATTCTATATATAT AATATATATTA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0028 a0001c0002t0004g0028	1	80	0.0125	510	c.62- others(529): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAGAATTATATA TATAATATATATTATATATATAGAATTATATATATAATATATATTATATA TATAGAATTATATATATAATATATATTATATATATAGAATTATATATATA ATATATATTATATATAGAATTATATATATAATATATATTATATATATAGA ATTATATATATAATATATATTATATATATAGAATATATATATAATATATA TTATATATATAGAATTATATATATAATATATATTATATATATAGAATATA TATATAATATATATTATATATATAGAATTATATATATAATATATATTATA TATATAGAATTATATATATAATATATATTATATATATAGAATTATATATA TAATATATATTATATATATAGAATTATATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KIF3B_chr20_32272651_32340011	32322802	T T	TTATATAT others(503): Show TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATTT ATATATATTTATATTTATTTATTTATATATATTTATTTATATATATATTT ATATATATTTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0012 a0001c0001t0021g0012	1	242	0.0041	510	c.174 others(529): Show c.1749-3950_1749-3949insATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATTTATATATATTTATATTTATTTATTTATATATATTTATTTATATATAT ATTTATATATATTTATATATATATTTATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LCN15_chr9_136754634_136769518	136769477	A A	ACCCCTCC others(503): Show ACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCC CGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCC CCCCCGCCACCCCTCCATGCACTGCCCCCCGCCACCCCCCCATGCACTGC CCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCA CTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCACCCCGCCAC CCCCCCCATGCACTGCCCCCCGCCACCCCTCCATGCACTGCCCCCCCGCC ACCCCCCCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCC CCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCC CCCCCCGCCACCCCTCCATGCACTGCCCCCCCCCGCCACCCCTCCATGCA CTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCA TGCACTGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	510	c.-49 others(521): Show c.-4990_-4989insGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAG TGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGG GGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGG GGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTG GCGGGGGGGGCAGTGCATGGGGGGGGTGGCGGGGGGGCAGTGCATGGAGG GGTGGCGGGGGGCAGTGCATGGGGGGGGTGGCGGGGTGCGGGGGGGGCAG TGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGG GCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGG GGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCG GGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGT GGCGGGGGGGGCAGTGCATGGAGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4960		chr9	TogoVar
LHPP_chr10_124456823_124619141	124471525	T T	TTTTTATA others(503): Show TTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTATA TTTATATATATATTTATATATATTTATGTATATTTATATATATATTTATA TATATTTATGTATATTTATATATATTTATATATTTATGTATATATTTATA TATATTTATATATTTATGTATAAATTTATATATTTTATATGTATTTATAT ATATATTTATATGTATTTTTATATATTTATATATTTATATGTATTTATAC ATATATATTTATATGTATTTATACATTATATTTATATGTATTTATATATA TTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTA TTTATATATATTTATATATATATTTATATATATATTTATATATATATTGT ATATATATTTATATATATATTATATATATTTTATATATATATTTATATAT ATATTTATTTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	260	0.0039	510	c.125 others(527): Show c.125+9539_125+9540insTTTATATATTTATATATTTATATATATA TTTATATATATTTATGTATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATATATATTTATGTATATTTATATATATTTATA TATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTATA TATTTTATATGTATTTATATATATATTTATATGTATTTTTATATATTTAT ATATTTATATGTATTTATACATATATATTTATATGTATTTATACATTATA TTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTATTTATATATATTTATATATATATTTATATA TATATTTATATATATATTGTATATATATTTATATATATATTATATATATT TTATATATATATTTATATATATATTTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610989	C C	CGGGTGCG others(503): Show CGGGTGCGGGTGCGGGTGCAGGTGAGGGTGCTGATGGAGCGGGCGAGGGT GAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGA TGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTG AGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCG GGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGA GGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGG GTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAG GGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGG TGAGGGTGCTGATGGAGCGGGCGAGGGTGCGGGTGAGGGTGCTGATGGAG TGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGTTGAC GGAGCGGGTGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	260	0.0039	510	c.717 others(527): Show c.717-2270_717-2269insCGGGTGCGGGTGCAGGTGAGGGTGCTGA TGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTG CGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGT GCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGA GGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGATG GAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCT GATGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGG TGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTG ACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGCGGGT GAGGGTGCTGATGGAGTGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGA GGGTGAGGGTGTTGACGGAGCGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	859688	C C	CGGGTGTG others(503): Show CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGG GTGTGAGTGATGTCTCGGGACGGGTGTGAGTGATGTCACGGGACGGGTGT GAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCA GTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGG TGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTC ACGGGAGGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGG GACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGA GTGGTGTCACGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGG TGTCTCGGGGT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp1 HG00733.hp1 HG01243.hp1	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0004 a0007c0028t0004	a0007c0028t0004g0017 a0007c0028t0004g0265 a0007c0028t0004g0017 a0007c0028t0004g0265	2	294	0.0068	510	c.153 others(529): Show c.1530-4983_1530-4982insACCCCGAGACACCACTCACACCCACC CCGAGACACCACTCACACCCACCCCGTGACACCACTCACACCCATCCCGA GACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CGCACACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCG CACCCGTCCCGAGACACCACTCGCACCCCTCCCGTGACACCACTCGCACC CGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTC CCGAGACACCACTCGCACCCGTCCCGTGACACCACTGCACACCCGTCCCG TGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGA CATCACTCACACCCGTCCCGAGACATCACTCACACCCGTCCCGTGACACC ACTGCACACCCGTCCCGAGACACCACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRGUK_chr7_134122340_134269595	134190878	A A	AAAGCAGT others(503): Show AAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGA TAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGC GGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGG GATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGA GCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTG GGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTT GAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTC TGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAG TTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGT TCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGT AGTTGAGCGGT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0127 a0001c0003t0003g0127	1	220	0.0046	510	c.133 others(527): Show c.1335-709_1335-708insAAGCAGTTCTGGGGATAGACAGTAGTTG AGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCT GGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGT TGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTT CTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTA GTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAG TTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAG TAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGC AGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGAC AGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAA GCAGTTCTGGGGATAGACAGTAGTTGAGCGGT	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAAAA others(503): Show AAAAAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGG AGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCT AACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGG CGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGT GAATTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACC CCATCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCG GGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGC ACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0180 a0001c0004t0001g0180	1	212	0.0047	510	c.363 others(527): Show c.3638-628_3638-627insAAAGCCAGGTGTGGTGGCTCACACCTGT AATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGA TTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTG GCTAACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGA TCGCTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAGCC others(503): Show AAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGC AGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAA TTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCA TCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGC GCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCACT CCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00621.hp2 others(58): Show HG00423.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02155.hp1 HG02572.hp1 HG02615.hp1 HG02717.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03492.hp1 HG06807.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp1 NA18960.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18983.hp2 NA18988.hp1 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19057.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0011 others(4): Show a0001 a0003 a0011 a0013 a0014 a0016 a0019	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0025 a0001c0034 a0001c0040 a0003c0006 a0003c0011 a0011c0044 a0013c0032 a0014c0031 a0016c0045 a0019c0021	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0025t0001 a0001c0034t0001 a0001c0040t0001 a0003c0006t0001 a0003c0011t0001 a0011c0044t0001 a0013c0032t0001 a0014c0031t0001 a0016c0045t0001 a0019c0021t0001	a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0058 others(58): Show a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0002t0001g0091 a0001c0002t0001g0120 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0176 a0001c0004t0001g0090 a0001c0004t0001g0098 a0001c0004t0001g0119 a0001c0004t0001g0121 a0001c0025t0001g0037 a0001c0034t0001g0080 a0001c0040t0001g0177 a0003c0006t0001g0024 a0003c0011t0001g0017 a0003c0011t0001g0151 a0011c0044t0001g0140 a0013c0032t0001g0186 a0014c0031t0001g0053 a0016c0045t0001g0074 a0019c0021t0001g0171	61	212	0.2877	510	c.363 others(527): Show c.3638-628_3638-627insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAGCCA others(503): Show AAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGC TGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGCA GTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAAT TACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCAT CAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGCG CCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCACTC CAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18941.hp1 HG01257.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0183 a0001c0002t0001g0191 a0001c0002t0001g0183 a0001c0002t0001g0191	2	212	0.0094	510	c.363 others(527): Show c.3638-629_3638-628insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(503): Show CCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01361.hp1 NA20752.hp2 HG00609.hp1 HG01361.hp1 NA20752.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0007 a0002c0002 a0004c0007	a0002c0002t0001 a0002c0002t0010 a0004c0007t0006 a0002c0002t0001 a0002c0002t0010 a0004c0007t0006	a0002c0002t0001g0047 a0002c0002t0010g0042 a0004c0007t0006g0236 a0002c0002t0001g0047 a0002c0002t0010g0042 a0004c0007t0006g0236	3	296	0.0101	510	c.368 others(527): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC14_chr8_144512992_144530172	144513834	A A	GAGGGGTC others(503): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	414	0.0024	510	c.-43 others(520): Show c.-4319delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGT	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4158		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513834	A A	GAGGGGTC others(503): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGT GGGGAGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	414	0.0024	510	c.-43 others(520): Show c.-4319delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGTAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGTGCAGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGG TCGGCGTGGGCGGTGGGGAGTGAGT	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4158		chr8	TogoVar

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Search Results (Total: 10000 hits)