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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Select column to sort.

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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
RAB11FIP3_chr16_420649_528011	458604	G G	GGGTTCAC others(1203): Show GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCC TTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCT CGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCG ATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGG GCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGC CTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGT TCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCC CACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTG GGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCC TCGGGTTCACCGATGCCCACAGGGCCTGGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGAGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA GTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGG GGCCTTCCTCA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0048 a0001c0001t0007g0048	1	295	0.0034	1210	c.715 others(1227): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGC TCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGGCCTTCCTC GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGAGGGCCTTCCTCGGGTTCACCGATGCTC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCT CGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTG ATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGG GCCTGGGGGGCCTTCCTCAGGTTCACCGATGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RABL6_chr9_136802948_136846187	136803287	C C	CCCCCCAG others(1203): Show CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGCCCCCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGGGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGG CGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCGGGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCA GGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0156 a0003c0014t0001g0156	1	330	0.0030	1210	c.-49 others(1221): Show c.-4910_-4909insCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTG GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCGGGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCG GGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC TGGGGCCCTCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGG GCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCTCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGG	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4660		chr9	TogoVar
RPH3AL_chr17_207389_357807	314723	C C	CTGACCTG others(1203): Show CTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTGCAGTCTCTGTAC TCCACGTCCATTGACCTGTAGTCCCTGTGACTTCACCTCCATTGACCTGT AGTCCCTGTGCTCCACCTCCATTGACCTGTAGTCTCTGTGACCCCACCTC CATTGACCTGTAGTCCCTGTACTCCACGTCCATTGACCTGCAGTCTCTGT GCTCCACCTCCATTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTG TAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTACTCCACGTC CATTGACCTGTAGTCTCTCTGCTCCACCTCCATTGACCTGTAGTCCCTGT GACTCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCT GTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCTCTGTGACCCCACC TCCATTGACCTGTAGTCCCTGTACTCCACGTCCATTGACCTGTACTCTCT GTGCCCCACCTCCATTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACC TGTAGTCTCTGTGCTCCACCTCCATTGACCAGTAGTCCCTGTGCCCCACC TCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCT GTGCCCCACCTCCATTGACCTGCAGTCTCTGTACTCCATGTCCATTGACC TGTAGTCCCTGTGACTCCACCTCCATTGAACTGTAGTCCCTGTGCCCCAC CTCCATTGACCTGTAGTCCCTGTGACTCCACCTCCATTGACCTGTAGTCT CTGTGCTCCACCTCCACTGACCTGTAGTCCCCTGTGCCCCACCTCCATTG ACCTGCAGTCTCTGTACTCCACGTCCATTGACCTGTAGTCCCTGTGACTT CACCTCCATTGACCTGTAGTCCCTGTGCTCCACCTCCATTGACCTGTAGT CTCTGTGACCCCACCTCCATTGGCCTGTAGTCCCTGTACTCCACGTCCAT TGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTGCC CCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAG TCCCTGTACTCCACGTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCAT TGACCTGTAGTCCCTGCGACTCCACCTCCATTGACCTGTAGTCTCTGTGC TCCACCTCCAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	133	0.0075	1210	c.351 others(1227): Show c.351+4696_351+4697insATGGAGGTGGAGCACAGAGACTACAGGT CAATGGAGGTGGAGTCGCAGGGACTACAGGTCAATGGAGGTGGAGCACAG AGACTACAGGTCAATGGACGTGGAGTACAGGGACTACAGGTCAATGGAGG TGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTACAGG TCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGACGTGGAGTACAG GGACTACAGGCCAATGGAGGTGGGGTCACAGAGACTACAGGTCAATGGAG GTGGAGCACAGGGACTACAGGTCAATGGAGGTGAAGTCACAGGGACTACA GGTCAATGGACGTGGAGTACAGAGACTGCAGGTCAATGGAGGTGGGGCAC AGGGGACTACAGGTCAGTGGAGGTGGAGCACAGAGACTACAGGTCAATGG AGGTGGAGTCACAGGGACTACAGGTCAATGGAGGTGGGGCACAGGGACTA CAGTTCAATGGAGGTGGAGTCACAGGGACTACAGGTCAATGGACATGGAG TACAGAGACTGCAGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCAAT GGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACT ACTGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGG CACAGGGACTACAGGTCAATGGAGGTGGGGCACAGAGAGTACAGGTCAAT GGACGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGGGTCACAGAGAC TACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGA GCACAGAGACTACAGGTCAATGGAGGTGGAGTCACAGGGACTACAGGTCA ATGGAGGTGGAGCAGAGAGACTACAGGTCAATGGACGTGGAGTACAGGGA CTACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGG GGCACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAGACTGCAGGTCA ATGGACGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGGGTCACAGAG ACTACAGGTCAATGGAGGTGGAGCACAGGGACTACAGGTCAATGGAGGTG AAGTCACAGGGACTACAGGTCAATGGACGTGGAGTACAGAGACTGCAGGT CAATGGAGGTGGGGCACAGGGACTACAGGTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RUSC2_chr9_35485111_35566895	35495152	C C	CTATAGTA others(1203): Show CTATAGTATATATAATATATATTTTATATATTATACTATAGTATATATAA TATATATTTTATATATTATACTATAGTATATATAATATATATTTTATATA TTATATATACTATAGTATATATAATATATATTTTATATATTATATATACT ATATATACTATAGTATTATATATACTATTATATATACTGTATATACTATT ATATAGTATATATAATAGTATATATTATACATTATATACTATATATTATA TATACTATTATATATATTATATATTATATATACTATTATATATACTATAG TATATATAATATATATTATATATACTATATATTTTATATATTATATTTTA TATATAATATAATATATTTTATATATATTTTATATATAATATAATATATT TTATATAATATATTATATATTATATAATATATTTTATATAATATATTATA TATTATATAATATATTTTATATAATATATTATATATTATATAATATATTT TATATAATATATTATATATTATATATAATATTTTATTATGTAATATATAA TATATATTTTATATATTATATATATTTTATTATATAATATATTTATATAT AATATATATTTTATATATAATATAATATATTTTATTTTATATAATGTATT ATATAATATATAATATATAACATATTTTATTATATATTATATAATAATAT ATAACATATTATATATTATATAATAATATATAACATATTTTATTATATAA TATATAATATATTATATAATATATATTTTATTGTATATAATATATTTTAT TGTATATTATATATAATATATTTTATTGTATATTATATATAATATATTTT ATTGTATATTATATATAATATATTTTATTATATAATTTATTATAATATAT ATATTTTATAATATATATAATATATTTTATTATTATATATTTTATTATAA TATATACAATATATTTTATTATAATATATAATATATTTTATAATATATAT ATTTTATTATAATATATATATTTTATAATATATATATTTTATAATATATA TATTTTATTATAATATATATTTTATTATATATAATATATTTTATAATATA TATAATATATTTTATTAAATATATATAATATATTTTATTAAATATATATA ATATATTTTATTAAATATATATAATATATTTTATTAAATATATATAATAT ATTTTATTAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02273.hp1 HG00735.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0019 a0001c0001t0003g0020	2	322	0.0062	1210	c.-93 others(1227): Show c.-93+4984_-93+4985insGTATATATAATATATATTTTATATATTA TACTATAGTATATATAATATATATTTTATATATTATACTATAGTATATAT AATATATATTTTATATATTATATATACTATAGTATATATAATATATATTT TATATATTATATATACTATATATACTATAGTATTATATATACTATTATAT ATACTGTATATACTATTATATAGTATATATAATAGTATATATTATACATT ATATACTATATATTATATATACTATTATATATATTATATATTATATATAC TATTATATATACTATAGTATATATAATATATATTATATATACTATATATT TTATATATTATATTTTATATATAATATAATATATTTTATATATATTTTAT ATATAATATAATATATTTTATATAATATATTATATATTATATAATATATT TTATATAATATATTATATATTATATAATATATTTTATATAATATATTATA TATTATATAATATATTTTATATAATATATTATATATTATATATAATATTT TATTATGTAATATATAATATATATTTTATATATTATATATATTTTATTAT ATAATATATTTATATATAATATATATTTTATATATAATATAATATATTTT ATTTTATATAATGTATTATATAATATATAATATATAACATATTTTATTAT ATATTATATAATAATATATAACATATTATATATTATATAATAATATATAA CATATTTTATTATATAATATATAATATATTATATAATATATATTTTATTG TATATAATATATTTTATTGTATATTATATATAATATATTTTATTGTATAT TATATATAATATATTTTATTGTATATTATATATAATATATTTTATTATAT AATTTATTATAATATATATATTTTATAATATATATAATATATTTTATTAT TATATATTTTATTATAATATATACAATATATTTTATTATAATATATAATA TATTTTATAATATATATATTTTATTATAATATATATATTTTATAATATAT ATATTTTATAATATATATATTTTATTATAATATATATTTTATTATATATA ATATATTTTATAATATATATAATATATTTTATTAAATATATATAATATAT TTTATTAAATATATATAATATATTTTATTAAATATATATAATATATTTTA TTAAATATATATAATATATTTTATTAAATATA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
SBNO2_chr19_1102638_1179268	1142161	A A	ACTCAATG others(1203): Show ACTCAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTC ACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCATGATCAACCCTCACT CAGTGACCTCCCTCATGATCAACCCTCCCTCAATGACCTCCCTCCCCACG ATCAATCCTCAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACC TCCCTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCATGATCAACC CTCCCTCAATGACCTCCCTCCCCACGATCAACCCTCACTCAACGGCCTCC CTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCC TCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGACCTCC TTCCCCATGATCAACCCTCCCTCAATGACCTCCCTCCCCAAGATCAAACC TCCCCTCAATGACATCCCTCCCCACGATCAACCCTCCCTCAATGACCTCC CACCCCACGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCC TCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGACCTCC TTCCCCAAGATCAACCCTCCCTCAATGACCTCCTTCCCCATGATCAACCC TCCCTCAATGACCTCACTCACGATCAACCCTCCCCTCAATGGCCTCCCTC CCCATGATCAACCCTCCCTCAATGACCTCCCTCACAATCAACCCTCCCCT CAATGGCCTCCTTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCCC AAGATCAACCCTCCCCTCAATGACATCCCTCCCCACGATCAACCCTCCCC TCAATGGCCTCCCTCCCCATGATCAACCCTCCCTCAATGACCTCCCTCAC GATCAACCCTCCCCTCAATGGCCTCCCTCCCCACAATCAACCCTCCCTCA ATGACCTCCCTCACGATCAACCCTCCCCTCAATGGCCTCCTTCCCCATGA TCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAAT GACCTCCTTCCCCAAGATCAACCCTCACTCAATGACCTCCTTCCCCACGA TCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAAT GACCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGA TCAACCCTCCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03486.hp1 HG02717.hp1 HG03486.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0017 a0001c0015t0001g0116 a0001c0015t0001g0017 a0001c0015t0001g0116	2	203	0.0099	1210	c.279 others(1227): Show c.279+5147_279+5148insGGGAGGGTTGATCTTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCATGGGGAGGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCGTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCATGGGGAAGGAGGCC ATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGTTGATTG TGGGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGA GGGAGGGTTGATCATGGGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTG GGGAGGGATGTCATTGAGGGGAGGGTTGATCTTGGGGAAGGAGGTCATTG AGTGAGGGTTGATCATGGGGAAGGAGGCCATTGAGGGGAGGGTTGATTGT GAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAGGGAGGCCATTGAGG GGAGGGTTGATCGTGAGTGAGGTCATTGAGGGAGGGTTGATCATGGGGAA GGAGGTCATTGAGGGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGA GGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAA GGAGGTCATTGAGTGAGGGTTGATCGTGGGGTGGGAGGTCATTGAGGGAG GGTTGATCGTGGGGAGGGATGTCATTGAGGGGAGGTTTGATCTTGGGGAG GGAGGTCATTGAGGGAGGGTTGATCATGGGGAAGGAGGTCATTGAGGGGA GGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAA GGAGGTCATTGAGTGAGGGTTGATCATGGGGAGGGAGGCCGTTGAGTGAG GGTTGATCGTGGGGAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAGG GAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGT TGATCATGAGGAGGGAGGTCATTGAGGATTGATCGTGGGGAGGGAGGTCA TTGAGGGAGGGTTGATCATGAGGGAGGTCACTGAGTGAGGGTTGATCATG GGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGG GAGGGTTGATCATGAGGAGGGAGGTCATTGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(1203): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATACATAAAAATTATATATATATTATATATACATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATAATATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATCATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTATATATATATATTATATATA TATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	1210	c.29 others(1221): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATACATAAAAATTATATATATATT ATATATACATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATAATATATATATATAAAAATTATATATATATATTATATATATATAA AAATTATATATATATATTATATATATATAAAAATCATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTATATA TATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TTLL8_chr22_50013575_50063298	50028931	C C	CCCCACAC others(1203): Show CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACA CACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCACACACCCTC GTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACCCTCGTAAAG ACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCAT CACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG TCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAA GACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACAC ACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACC CCACCACACCGTCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCA CACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTC CTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGA CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACA CACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTC GTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGA CCCCATCACACCGTCCTAAAGACCCCCACACACACTCGTAAAGACCCCAT CACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG TCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAA GACCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCA CACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACC CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCC ATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACAC CGTCCTGAAGA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	224	0.0045	1210	c.225 others(1229): Show c.2251+1498_2251+1499insTCTTCAGGACGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGT GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTCT TCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGAT GGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGA TGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GTGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGT GTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGT CTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGG ACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGT GATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGG TCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTAC GAGTGTGTGTGGGGGTCTTCAGGACGGTGTGGTGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTT CAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATG GTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGACGGTGTGA TGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGT CTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGG ACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(1203): Show ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCATACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAT ACACACCACACACCCCACACACACCACACACCCCACACACACCACACCCC ATACACACCACACCCCATACACACCACACCCCACACACACCACACCCCCC ACACACACCACACCCCACACACACCACACCCCATACACACCACACACCCC ACACACACCACACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC ACACACACCACACAAACCACACACCCTACACACCCCACACACACCACACA CACACATCACATACCACACACACATCACATACCACACACAAACCACACAC CACACACACACCACACACCCCACACACACATCACATACCACACACAAACC ACACACCCAACACACACATCACACACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCTACACACACCACACACCCCACACACAC ATCACACACCACACACACCACACACACCCCACACACACCACACACACACA TCACATACCACACACCCGACACACGCCACACACACACCACACACCCCACG CACACATCACATACCACACACAAACCACACACCCTACACACACCACACAC CCCACACACACCACACACACACACCACACACACATCACATACCACACACA AACCACACACCCCCACACACCCCACACACCCCACACACACCACACACCCC ACACACACACCACACACCCCACACACACATCACATACCACACACAAACCA CACACCCCACACACCCCACACACCACACACACACCACACACCCCACACAC ACATCACATACCACACACAAACCACACACCCTACACACACCACACACCCC ACACACACCACACACCCGACACACGCCACACACACACCACACACCCCACG CACACATCACATACCACACACAAACCACACACCCTACACACCCCACACAC CCCACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	338	0.0030	1210	c.35 others(1229): Show c.35+22439_*35+22440insCACACCCCACACACACCACACCCCAC ACACACCACACCCCATACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCATAC ACACCACACACCCCACACACACCACACACCCCACACACACCACACCCCAT ACACACCACACCCCATACACACCACACCCCACACACACCACACCCCCCAC ACACACCACACCCCACACACACCACACCCCATACACACCACACACCCCAC ACACACCACACACCCCACACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACAAACCACACACCCTACACACCCCACACACACCACACACA CACATCACATACCACACACACATCACATACCACACACAAACCACACACCA CACACACACCACACACCCCACACACACATCACATACCACACACAAACCAC ACACCCAACACACACATCACACACCACACACCCCACACACACATCACATA CCACACACAAACCACACACCCTACACACACCACACACCCCACACACACAT CACACACCACACACACCACACACACCCCACACACACCACACACACACATC ACATACCACACACCCGACACACGCCACACACACACCACACACCCCACGCA CACATCACATACCACACACAAACCACACACCCTACACACACCACACACCC CACACACACCACACACACACACCACACACACATCACATACCACACACAAA CCACACACCCCCACACACCCCACACACCCCACACACACCACACACCCCAC ACACACACCACACACCCCACACACACATCACATACCACACACAAACCACA CACCCCACACACCCCACACACCACACACACACCACACACCCCACACACAC ATCACATACCACACACAAACCACACACCCTACACACACCACACACCCCAC ACACACCACACACCCGACACACGCCACACACACACCACACACCCCACGCA CACATCACATACCACACACAAACCACACACCCTACACACCCCACACACCC CACACACACCACACACCACACACCCCACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(1204): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAG CCCACCCAACACGTCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCAC CTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCT CAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCA GCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCAC CCCCCGCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCA ACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACAT CACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATCACCTC AGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCA CCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAAC ACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAG CCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCC CCACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCC CCACACATCACCTCAGTCCACCCAACACATCACCTCAGCCCACCCAACAC ATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATC ACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCA GCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0276 a0001c0003t0021g0276	1	337	0.0030	1211	c.61+ others(1226): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGA CTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGG TGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTG ATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGAT GTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGT GTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGG TGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTG GGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGA GGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GGGGGGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTG TTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGT GGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGG ACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGA TGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGT GTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTGTTGGG TGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGG TGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTG GACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ANXA2_chr15_60342151_60402986	60350083	G G	GAGGGGAA others(1204): Show GAGGGGAAGGAAAGGGAGGGAGGTGAAGGCAGGGAGGGAGGGGAAGGCAG GGAGGGAGGGGAAGGCAGGGAGGGAGGTGAAGGAAAGGGAGGGAGGTGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG TGAAGGAAAGGGAGGGAGGTGAAGGCAGGGAGGGAGGGGAAGGCAGGGAG GCAGGGGAAGGCAGGGAGGGAGGTGAAGGAAAGGGAGGGAGGTGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGTGAA GGAAAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAAGGAGGCAG GGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAG GGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAAGGAGGCAGGAGAAGGCAG GGAGGGAGGGGAAGGCAAGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAG GCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGG GAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG AGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGG AGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGC AGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGA AGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAG GGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAG GGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAG GGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAG GCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGG GAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGG AGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGG AGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGC AGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGA AGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	334	0.0030	1211	c.838 others(1226): Show c.838-887_838-886insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCTTGCCTTCCCCTCCCTCCCTGCCTTCTCCTGCCTCC TTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCTTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTTTCCTTCACCTCCCTCCCTGCC TTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCACCTCCCTCCC TTTCCTTCACCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCACCTCCCTCCCTTTCCTTCACCTCCCTCCCTGCCTTCC CCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCACCTCCCTCCCTTTC CTTCACCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCACCTCCCTCCCTTTCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1204): Show AAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGGAAGGGG AAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGA AGGGGAAGGGGAAGGGAAGGGAAAAGGGAAGGAGAAAAGGAAGGGAAGGG GAAGGGAAGGGAAGATGAAGGGAAAGGGAAAAGGAAGGAGAAGAGGAGGG GAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAAGAAAGGGAGAGGGAGGGG GCAGGGAAGGGAAGGGGAATGGAAGAGGAAGGAAGGGGAAGGAAGGGGAA TGGAAAGGAAGGGGAAGGGGAAGGGGAAGGAAAGGGGAAGGGGAAGGGGG AAGGGGGAGGGGGGAAGGGGGAGGGGGAAGGGGAGGGGAAGGGGGGGGGA AGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAG GGGGAGGGGAAGGGGAAAGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGA ATGGAAGGGAAGGAAAGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGG GGAGGAGAAGGGGAAGGGAAGGGAAAAGGAAGGAGAAGAGGAAGGGAAGG GAGGGGAAGGCAAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGA GGGGAAGGGAAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAAGGGAAG GGGAAAGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGA GGGGAAGGGGAGGGGAAGGGGAAAGGAAGGGGGGGGAAGGGAAGGTGGAA GGAAGGGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAG GGAAGGGGGAGGGGGAAGGGGAAAGGGAAAGGAAGGGGAAGGGAAAGGAA GGGGGAGGGAAAGGAAAGGGGAAGGGAAGGAAGGGGAAGGGAAGAGAAAG GAAGGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAAGGGAAAAGGAGAA GAAGAGGGAAGGGGAGGGGAAGGGAAGGGGGAAAGGAAGAAGGGGAGGGG AAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGA AAGGGAAGGGGAAGATGAAGGGGAAGGGAAGGGGAAGATGAAGGGGAAGG GAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAAGGAGGGGAAGGG GAGGGGAAGGGG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0071 a0002c0004t0002g0071	1	242	0.0041	1211	c.927 others(1228): Show c.927+4817_927+4818insCCCCTTCCCCTCCCCTTCCCCTCCTTTC CCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCATCTT CCCCTTCCCTTCCCCTTCATCTTCCCCTTCCCTTTCCCTTCCCCTCCCCT TCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCTTCC TTTCCCCCTTCCCTTCCCCTCCCCTTCCCTCTTCTTCTCCTTTTCCCTTC CCCTTCCCCTCCCCTTCTCCTTCCCTTCCCCTTCCTTTCTCTTCCCTTCC CCTTCCTTCCCTTCCCCTTTCCTTTCCCTCCCCCTTCCTTTCCCTTCCCC TTCCTTTCCCTTTCCCCTTCCCCCTCCCCCTTCCCTTTCCCTTCCCTTCC CCTTCCCCTTCCTTTCCATTCCCCTTCCCCTTCCTTCCACCTTCCCTTCC CCCCCCTTCCTTTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCTC TTCTCCTTCCTTTTCCCTTCCCCTTCCCTTTCCCCTTCCCTTCCCCTTCC CTTCCCCTTCCCCTCCCCTTCCCTTCCCTTCCCCTCCCCTTCCCTTCCCC TCCCCCTTCCTTCCTTTCCCCTTGCCTTCCCCTCCCTTCCCTTCCTCTTC TCCTTCCTTTTCCCTTCCCTTCCCCTTCTCCTCCCCTTCCCCTTCCCTTC CCCTTCCCTTCCCCTTCCTTTCCTTCCCTTCCATTCCCCTTTCCTTTCCC TCCCCCTTCCCCTTCCTTTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCCCCCCTTCCCC TCCCCTTCCCCCTCCCCCTTCCCCCCTCCCCCTTCCCCCTTCCCCTTCCC CTTTCCTTCCCCTTCCCCTTCCCCTTCCTTTCCATTCCCCTTCCTTCCCC TTCCTTCCTCTTCCATTCCCCTTCCCTTCCCTGCCCCCTCCCTCTCCCTT TCTTTCCCCTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTT CCTTTTCCCTTTCCCTTCATCTTCCCTTCCCTTCCCCTTCCCTTCCTTTT CTCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCTTCCCTTCCCCTTCCCT TCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCC TTCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882406	G G	GGGGGAGA others(1204): Show GGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGA AAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGG AAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGG CGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGA AAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGC CGCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGC GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCC GGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAG AAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGG AAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAG GAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAA GCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCG GCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAG GAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	288	0.0035	1211	c.303 others(1230): Show c.303+23715_303+23716insGGCTTTCCTTTCCTTCTCCCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCT TTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCC CCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGG CTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTT TCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC CCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGC CGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTT CCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTT CTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCC CGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC CCTGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCGCCG GCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTC CTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CENPM_chr22_41933737_41952152	41939808	A A	AAAGAAGA others(1204): Show AAAGAAGAAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAAAGAAGAAAAGA AAGAAAAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAGAAAAAGAA AGAAAAAGAAAGAAAAAGAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAAG AAAAAGAAAGAAAAAGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAA GAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAA AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAA GAAAGAAAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAA AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAAGAAAGAAAAAGAAAGAAGAAAGAAAGAAAGAAAAAGAAAGA AAGAAAGAAGAAGAAAGAAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAAAGAAGAAAGAAAAAGAAAGAAAAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAGAAAGAAAGAAAAGAAA GAAAGAAGAAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAA GAAAGAAAAAGAAAAAGAAAGAAAAGAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAGAAAGAAAGAAAAA GAAAGAAAAAGAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAG AAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	258	0.0039	1211	c.403 others(1226): Show c.403-613_403-612insCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTCTTCTTTTTCTTTCTTTTTCTTTCTTTCTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTTTCTTTCTTTC TTTCTTCTTTTCTTTCTTTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCT TTTCTTTCTTTCTTTCTTTCTTTTCTTCTTTCTTTCTTTTCTTTCTTTCT TTTCTTTCTTTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTTTCTTT CTTTTTCTTTCTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT TTCTTTCTTTCTTTTCTTTCTTCTTCTTTCTTTCTTTCTTTTTCTTTCTT TCTTTCTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTC TTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTT TCTTTTTCTTTCTTTCTTTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTT TCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTT TCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTT TCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTT TTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTT TTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTT TCTTTCTTTCTTTCTTCTTTTTCTTTCTTTTTCTTTTCTTTTTCTTTCTT TCTTTCTTTTTCTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTCTTTCTT TTTCTTTCTTTTCTTTCTTTCTTTCTTTTCTTTCTTTTCTTCTTTTTCTT TCTTTCTTTCTTCTTTCTTTCTTTTCTTCTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939840	A A	AAAAGAAG others(1204): Show AAAAGAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAA AGAAAGAAAGAAAGAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAA AGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAG AAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAG AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	258	0.0039	1211	c.403 others(1226): Show c.403-645_403-644insCTTTCTTTCTTTCTTTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939840	A A	AAAAGAAG others(1204): Show AAAAGAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAG AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAA AGAAAGAAAGAAAGAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAA AGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAG AAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAG AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	258	0.0039	1211	c.403 others(1226): Show c.403-645_403-644insCTTTCTTTCTTTCTTTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTT CTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939840	A A	AAAAGAAG others(1204): Show AAAAGAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAA AAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGA AAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGA AAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAA GAAAGAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAA AAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGA AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAA GAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAAGAAAGAAAGAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGA AAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAA GAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAA AAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAG AAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA AGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	258	0.0039	1211	c.403 others(1226): Show c.403-645_403-644insCTTTCTTTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTT CTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTCTT TCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTC TTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTC TTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTC TTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC TTTCTTTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTT TCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTT TTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTT TCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTT TCTTTCTTTTTCTTTCTTTTTCTTTCTCTTTCTTTTTCTTTCTTTTTCTT TCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTC TTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTC TTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTT TCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTT TTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1204): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGC AGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAG TTTATAGATAATATGGAGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTT TATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGG TGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATA ATATGGAGGCGGGGCGGGGTACAGTTTATAGATAATATGGAGGCGGGGCG GGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTA TAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGG GGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGGGG GTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGAT AATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGG GGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0004 a0001c0039t0004	a0001c0039t0004g0197 a0001c0039t0004g0197	1	272	0.0037	1211	c.109 others(1230): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGA TAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGG GCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGCAGTTT ATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGG GGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTG CAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAA TATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGC GGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTA TAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGG GCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTAT AGTTTATAGATAATATGGAGGCGGGGCGGGGTACAGTTTATAGATAATAT GGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGG GAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTAT AGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGG GCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTG CAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATA ATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1204): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0002 a0006c0020t0002	a0006c0020t0002g0023 a0006c0020t0002g0023	1	316	0.0032	1211	c.49 others(1222): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1204): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGAGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0001 a0002c0038t0001	a0002c0038t0001g0229 a0002c0038t0001g0229	1	316	0.0032	1211	c.49 others(1222): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGAGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1204): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01069.hp1 HG01071.hp1 others(14): Show HG00423.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01975.hp1 HG02135.hp1 HG02486.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03654.hp2 NA18951.hp1 NA18960.hp1 NA18960.hp2 NA19065.hp2 NA19084.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0007 a0021 a0024 a0025 a0047	a0001c0002 a0001c0005 a0001c0006 others(9): Show a0001c0002 a0001c0005 a0001c0006 a0002c0003 a0002c0007 a0003c0004 a0003c0123 a0007c0019 a0021c0114 a0024c0135 a0025c0040 a0047c0077	a0001c0002t0002 a0001c0002t0004 a0001c0005t0002 others(13): Show a0001c0002t0002 a0001c0002t0004 a0001c0005t0002 a0001c0006t0001 a0002c0003t0003 a0002c0007t0001 a0002c0007t0004 a0003c0004t0001 a0003c0004t0002 a0003c0123t0009 a0007c0019t0002 a0007c0019t0003 a0021c0114t0003 a0024c0135t0001 a0025c0040t0001 a0047c0077t0001	a0001c0002t0002g0033 a0001c0002t0004g0201 a0001c0005t0002g0077 others(14): Show a0001c0002t0002g0033 a0001c0002t0004g0201 a0001c0005t0002g0077 a0001c0006t0001g0242 a0002c0003t0003g0312 a0002c0007t0001g0166 a0002c0007t0004g0196 a0003c0004t0001g0210 a0003c0004t0002g0027 a0003c0123t0009g0143 a0007c0019t0002g0041 a0007c0019t0003g0309 a0021c0114t0003g0304 a0024c0135t0001g0150 a0025c0040t0001g0174 a0025c0040t0001g0175 a0047c0077t0001g0240	17	316	0.0538	1211	c.49 others(1222): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1204): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02132.hp1 HG00558.hp2 HG02132.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0027 a0003c0004 a0005c0027	a0003c0004t0001 a0005c0027t0001 a0003c0004t0001 a0005c0027t0001	a0003c0004t0001g0149 a0005c0027t0001g0134 a0003c0004t0001g0149 a0005c0027t0001g0134	2	316	0.0063	1211	c.49 others(1222): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1204): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG04199.hp2 HG01099.hp2 HG04199.hp2	a0001 a0018 a0001 a0018	a0001c0049 a0018c0129 a0001c0049 a0018c0129	a0001c0049t0002 a0018c0129t0003 a0001c0049t0002 a0018c0129t0003	a0001c0049t0002g0010 a0018c0129t0003g0295 a0001c0049t0002g0010 a0018c0129t0003g0295	2	316	0.0063	1211	c.49 others(1222): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838441	C C	CGGGGCAG others(1204): Show CGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCCCCAG CCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTCCGGG GGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCTCGCC CTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTTCCCC TTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCCTTCC TTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCGGCGT CTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTAGGTC TGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCTCTTG CTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTCCCTG CCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCCCCTT TCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAGGGGG CCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTGTGAG TGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCTCTCC GTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGGGAGG TGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACACAATC AGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCCACCC TGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTTGGCT GGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGGTCTG GGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGCCTGG GGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCACCGA CTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGCCACC AGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGGGCAG TTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTGCACA AGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCACATG CCCCCACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0038 a0038	a0038c0131 a0038c0131	a0038c0131t0001 a0038c0131t0001	a0038c0131t0001g0221 a0038c0131t0001g0221	1	316	0.0032	1211	c.49 others(1222): Show c.4908_*4909insGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCT CCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCC TACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACC CCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGA TGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCT TTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGC TGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCC TGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGC TGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGG AGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCC AACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAA CCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGG GAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGA CCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGA CTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGG TTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTG TGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTC TGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTG GGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGG TGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCAC CTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGG AGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGG GTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGT TTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCC CTTCCCGTCCACATGCCCCCACACACA	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4700		chr17	TogoVar
KCNQ2_chr20_63395208_63477655	63450548	A A	ACTGCTGG others(1204): Show ACTGCTGGGGGGTGGGGGGAAGACCTGCTGTGGGGAGGGGGAAGACCTGC TGTGGGGTGGAAGACCTGCTGTGGGGTAGGGGAAGACCTGCTGTGGGGTG GGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACGTGCTGTGGGGTGGGGG AAGACCTGCTGTGGGGTGGGGGGGAAGACCTGCTGTGGGGTGGAAGACCT GCTGTGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGGGAAGACCTGCTG TGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACTGCTGGGGGGTG GGGGAAGACTGCTGGGGGGTGGGGGAAGACCTGCTGGGGGGTGGGGGAAG ACCTGCTGTGGGGTGGGGGAAGACCTGCTGTAGGGTGGGGGAAGACTGCT GGGGGGTGGGGGGAAGACCTGCTGGGGGGTGGGGGAAGACCTGCTGTAGG GTGGGGGAAGACTGCTGGGGGGTGGGGGGGAAGACCTGCTGTGGGGTGGG GGAAGACCTGCTGTGGGGTGGGGGAAGACCTGCTGTAGGGTGGGGGAAGA CCTGCTGGGGGGTGGAGGAAGACCTGCTGGGGGGTGTGGGAAGACCTGCT GGGGGGAGGGGGAAGACCTGCTGTGGGGTGTGGGAAGACCTGCTGTAGGG TGGGGGAAGACTGCTGGGGGGTGGGGGGAAGACCTGCTGTGGGGTGGGGG AAGACCTGCTGTAGGGTGGGGGAAGACTGCTGGGGGGTGGGGGGGAAGAC CTGCTGTGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACCTGCTG TAGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACCTGCTGTGGGGT GGGGGAAGACCTGCTGTAGGGTGGGGGAAGACTGCTGGGGGGTGGGGGGA AGACCTGCTGGGGTGAGGGGGAAGACCTGCTGTGGGGTGTGGGAAGACCT GCTGTAGGGTGGGGGAAGACTGCTGGGGGGTGTGGGAAGACCTGCTGTAG GGTGGGGGAAGACTGCTGGGGGGTGGGGGGAAGACCTGCTGGGGGGTGGG GGAAGACCTGCTGGGGGGTGTGGGAAGACCTGCTGGGGGGTGGGGGAAGA CCTGCTGGGGGGTGGGGGAAGACCTGCTGGGGGGAGGGGGAAGACCTGCT GGGGGGAGGGGGAAGACCTGCTGGGGGGGTGGGGGGAAGACCTGCTGGGG GTGGGGGAAGAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01256.hp2 NA20752.hp1 HG00639.hp2 HG01256.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0004 a0002c0001t0006 a0001c0004t0004 a0002c0001t0006	a0001c0004t0004g0130 a0001c0004t0004g0131 a0002c0001t0006g0126 a0001c0004t0004g0130 a0001c0004t0004g0131 a0002c0001t0006g0126	3	330	0.0091	1211	c.297 others(1228): Show c.297-3712_297-3711insGTCTTCCCCCACCCCCAGCAGGTCTTCC CCCCACCCCCCCAGCAGGTCTTCCCCCTCCCCCCAGCAGGTCTTCCCCCT CCCCCCAGCAGGTCTTCCCCCACCCCCCAGCAGGTCTTCCCCCACCCCCC AGCAGGTCTTCCCACACCCCCCAGCAGGTCTTCCCCCACCCCCCAGCAGG TCTTCCCCCCACCCCCCAGCAGTCTTCCCCCACCCTACAGCAGGTCTTCC CACACCCCCCAGCAGTCTTCCCCCACCCTACAGCAGGTCTTCCCACACCC CACAGCAGGTCTTCCCCCTCACCCCAGCAGGTCTTCCCCCCACCCCCCAG CAGTCTTCCCCCACCCTACAGCAGGTCTTCCCCCACCCCACAGCAGGTCT TCCCCCACCCCACAGCAGGTCTTCCCCCACCCTACAGCAGGTCTTCCCCC ACCCCACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCCCACCC CCCAGCAGTCTTCCCCCACCCTACAGCAGGTCTTCCCCCACCCCACAGCA GGTCTTCCCCCCACCCCCCAGCAGTCTTCCCCCACCCTACAGCAGGTCTT CCCACACCCCACAGCAGGTCTTCCCCCTCCCCCCAGCAGGTCTTCCCACA CCCCCCAGCAGGTCTTCCTCCACCCCCCAGCAGGTCTTCCCCCACCCTAC AGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCACCCCACAGCAGG TCTTCCCCCCCACCCCCCAGCAGTCTTCCCCCACCCTACAGCAGGTCTTC CCCCACCCCCCAGCAGGTCTTCCCCCCACCCCCCAGCAGTCTTCCCCCAC CCTACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCACCCCCCA GCAGGTCTTCCCCCACCCCCCAGCAGTCTTCCCCCACCCCCCAGCAGTCT TCCCCCACCCCACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCC CCACCCCACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCACCCCAC AGCAGGTCTTCCCCCCCACCCCACAGCAGGTCTTCCCCCACCCCACAGCA CGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCCCACCCCACAGCAGGTC TTCCCCTACCCCACAGCAGGTCTTCCACCCCACAGCAGGTCTTCCCCCTC CCCACAGCAGGTCTTCCCCCCACCCCCCAGCAG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1204): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19060.hp2 HG00408.hp1 NA19060.hp2	a0006 a0011 a0006 a0011	a0006c0006 a0011c0010 a0006c0006 a0011c0010	a0006c0006t0002 a0011c0010t0002 a0006c0006t0002 a0011c0010t0002	a0006c0006t0002g0147 a0011c0010t0002g0144 a0006c0006t0002g0147 a0011c0010t0002g0144	2	388	0.0052	1211	c.-38 others(1230): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1204): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGT CTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTG CCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGG GGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCA CACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCT GCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGG CTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCC AGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCC TGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGT CCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTC GGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCC TGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCT GTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGT CCACATGCCCCC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0280 a0001c0002t0001g0280	1	388	0.0026	1211	c.-38 others(1230): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC CGGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGG GCTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTC TCGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGC TCTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCT GGGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGT TCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGG GGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCCTGGAGGGGCAAGGGGC TCTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGG GGGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCT CACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGG GGCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAG GGACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGC CGGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGC TGAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAA GGTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTT TTCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTG AGTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGG TCTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCT TCCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCC CAGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1204): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGAGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0026 a0026	a0026c0036 a0026c0036	a0026c0036t0001 a0026c0036t0001	a0026c0036t0001g0195 a0026c0036t0001g0195	1	388	0.0026	1211	c.-38 others(1230): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGAGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1204): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG01069.hp1 others(14): Show HG00323.hp1 HG00423.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01975.hp2 HG02135.hp2 HG02486.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03654.hp2 NA18906.hp2 NA18945.hp2 NA18999.hp1 NA19065.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0011 a0013 a0034	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0003c0007 a0003c0011 a0004c0005 a0011c0010 a0013c0013 a0034c0084	a0001c0001t0002 a0001c0002t0001 a0001c0004t0003 others(7): Show a0001c0001t0002 a0001c0002t0001 a0001c0004t0003 a0003c0007t0002 a0003c0011t0012 a0004c0005t0001 a0004c0005t0010 a0011c0010t0002 a0013c0013t0006 a0034c0084t0010	a0001c0001t0002g0030 a0001c0001t0002g0270 a0001c0002t0001g0289 others(12): Show a0001c0001t0002g0030 a0001c0001t0002g0270 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0004t0003g0009 a0001c0004t0003g0186 a0003c0007t0002g0168 a0003c0011t0012g0009 a0004c0005t0001g0115 a0004c0005t0010g0129 a0011c0010t0002g0140 a0011c0010t0002g0141 a0011c0010t0002g0152 a0013c0013t0006g0265 a0034c0084t0010g0130	17	388	0.0438	1211	c.-38 others(1230): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1204): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02132.hp2 HG00558.hp2 HG02132.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0019 a0001c0001 a0005c0019	a0001c0001t0004 a0005c0019t0004 a0001c0001t0004 a0005c0019t0004	a0001c0001t0004g0228 a0005c0019t0004g0229 a0001c0001t0004g0228 a0005c0019t0004g0229	2	388	0.0052	1211	c.-38 others(1230): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1204): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCC	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0008 a0008	a0008c0077 a0008c0077	a0008c0077t0013 a0008c0077t0013	a0008c0077t0013g0087 a0008c0077t0013g0087	1	388	0.0026	1211	c.-38 others(1230): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1204): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02015.hp1 HG04199.hp2 others(2): Show HG01099.hp2 HG02015.hp1 HG04199.hp2 NA19000.hp2 NA19080.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0011	a0001c0004 a0002c0003 a0003c0007 others(2): Show a0001c0004 a0002c0003 a0003c0007 a0006c0006 a0011c0010	a0001c0004t0003 a0002c0003t0001 a0003c0007t0002 others(2): Show a0001c0004t0003 a0002c0003t0001 a0003c0007t0002 a0006c0006t0002 a0011c0010t0002	a0001c0004t0003g0213 a0002c0003t0001g0095 a0003c0007t0002g0178 others(2): Show a0001c0004t0003g0213 a0002c0003t0001g0095 a0003c0007t0002g0178 a0006c0006t0002g0142 a0011c0010t0002g0143	5	388	0.0129	1211	c.-38 others(1230): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838441	C C	CGGGGCAG others(1204): Show CGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCCCCAG CCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTCCGGG GGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCTCGCC CTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTTCCCC TTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCCTTCC TTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCGGCGT CTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTAGGTC TGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCTCTTG CTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTCCCTG CCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCCCCTT TCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAGGGGG CCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTGTGAG TGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCTCTCC GTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGGGAGG TGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACACAATC AGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCCACCC TGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTTGGCT GGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGGTCTG GGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGCCTGG GGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCACCGA CTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGCCACC AGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGGGCAG TTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTGCACA AGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCACATG CCCCCACACACA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0064 a0002c0003t0001g0064	1	388	0.0026	1211	c.-38 others(1230): Show c.-387-1465_-387-1464insGGGGCAGGCCCAGGAGGCAGAGGAGG GACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCC CCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGC AGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACC TTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCC TTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTA TCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCC CGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGT CTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGC TGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCC GCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGG GGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGG TCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCA GTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATT TCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGG GCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAG CCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAG GCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTC TGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCA ATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAG GGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCA AACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCA GGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCT TTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCC AGCTCCCCCTTCCCGTCCACATGCCCCCACACACA	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23			chr17	TogoVar
LHPP_chr10_124456823_124619141	124471546	T T	TATGTATA others(1204): Show TATGTATATTTATATATATTTATATATTTATGTATATATTTATATATATT TATATATTTATGTATATATTTATATATATTTCTATGTATTTATATATATA TTTATATGTATTTATATATTTATATATTTATATGTATTTATATATATATT TATATGTATTTATATATATTTATATATATATTTTATGTATTTATATATAT TTATATATATATTTTATGTATTTATATATATTTATATATATATTTATATA TATTTATATATATATTTATATATATTTATATATATATTTATATATATATT TATATATATATTTATATATATTTATATATATATTTATATATATATTTATA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTACATATATTTATATATATATTTACATATATTTATATATATATTTACA TATATTTATATATATATTTACATATATTTATATATATATTTACATATATT TATATATATTTACATATATTTATATATATATTTATATATATTTATATATA TATATTTATATATATTTATATTTATATATATTTATATATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATTTATATATATA TATTTATATATATTTATATATATATTTATATATATATTTATATATATTTA TATATATATTTATATATATATTTATATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATTTATATATATATTTTTATATATATTTATATA TATATATTTTTATATATAGTTATATATATTTATATATAGTTATATATAGT TATATATAGTTATATATAGTTATATATATATTTATATATATATTTATATA TAGTTATATATATTTATATATATATTTATATATATATTTATATATATATT TATATATATATTTATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATTTATATATATATTTATATATATATA TTTTTATATATATTTATATATATATTTATATATATATATTTATATATATA TTTTTATATATATTTTTATATATATTTTTATATATATATTTATATATATT TTTATATATTTA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18990.hp2 NA18954.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0048 a0001c0001t0001g0049	2	260	0.0077	1211	c.125 others(1228): Show c.125+9559_125+9560insATGTATATTTATATATATTTATATATTT ATGTATATATTTATATATATTTATATATTTATGTATATATTTATATATAT TTCTATGTATTTATATATATATTTATATGTATTTATATATTTATATATTT ATATGTATTTATATATATATTTATATGTATTTATATATATTTATATATAT ATTTTATGTATTTATATATATTTATATATATATTTTATGTATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATATTTATATATATTTACATATATTTATATATATATTTACAT ATATTTATATATATATTTACATATATTTATATATATATTTACATATATTT ATATATATATTTACATATATTTATATATATTTACATATATTTATATATAT ATTTATATATATTTATATATATATATTTATATATATTTATATTTATATAT ATTTATATATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATTTATATATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATTTATATATAT ATTTTTATATATATTTATATATATATATTTTTATATATAGTTATATATAT TTATATATAGTTATATATAGTTATATATAGTTATATATAGTTATATATAT ATTTATATATATATTTATATATAGTTATATATATTTATATATATATTTAT ATATATATTTATATATATATTTATATATATATTTATATATATTTATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATATTTTTATATATATTTATATATATATTTAT ATATATATATTTATATATATATTTTTATATATATTTTTATATATATTTTT ATATATATATTTATATATATTTTTATATATTTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LMF1_chr16_848634_975984	858496	C C	CAGTGGTG others(1204): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGGACGGG TGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGT GCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGCAGTGGT GTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTC TCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTG TGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCG TGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCGTGG TGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGAGTGGTGTC ACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGG GATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGAT GGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGCGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTG CGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAG TGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGG TGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTC ACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGACTCGG GACGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0268 a0001c0022t0001g0268	1	294	0.0034	1211	c.153 others(1230): Show c.1530-3791_1530-3790insTGCACACCCGTCCCGAGTCACCACTC ACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACAC CCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACACCCA TCCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCC CGAGACACCACTGCACACCCATCCCGAGACACCACGCACACCCATCCCGA GACACCACTGCACACCCATCCCGTGACACCACGCACACCCATCCCGAGAC ACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGACACCA CTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTC ACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACAC CCATCCCGAGACACCACGCACACCCATCCCGAGACACCACGCACACCCAT CCCGAGACACCACTGCACACCCATCCCGTGACACCACGCACACCCATCCC GAGACACCACTCACACCCATCCCGAGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACGC ACACCCATCCCGAGACACCACGCACACCCATCCCGAGACACCACGCACAC CCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCC ATCCCGTGACACCACGCACACCCATCCCGAGACACCACTCACACCCGTCC CGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAG ACACCACGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACA CCACGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCC GTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCC CGTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MGMT_chr10_129462241_129775983	129518568	C C	CCCTCCCC others(1204): Show CCCTCCCCCTCCCCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCC CCCTGCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCC CGCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCTCCCTTCCCCCTCCCCC TCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCC TCCCCTCCCTCCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCCTCCTCTTC TTTCACCTCCCCTCCTCTTCCTTCACCTCCCCCTCCCCCCAATCACCTCC CCCTCCCCCCGCTCACCTCCCCCTCCCCCCACTCCTCCCCCTCTCACTCC TCCCCCTCCCTCCTCCCCCTGCCCTTCCCCTCCCTCCTCCCCCTCCTCCC CCTCTCCCTCTCTCTGTCTTCCCCCCTCCCCCTCCCTTTTCCCCCTCCTC CTCCCCTCCCTGTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCT CTTCCCCCTCCCTCTTCCCCCTCCCCTCCCCTTCCCCCTCCCCCTTCCCC TCCCCCTTCCCCCTCCCCCTCCCCCTTCCCCTTCCCCCTCCCCCTCCCCC TTCCCCCTCCCCCTCCCCCTTCCCCTTCCCCCTCCCCCTTCCCCTTCCCC CTTCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTTCCCCTCCCCCTT ACTCTCCCCTTCCCCTCCCCTCCCCCCTCTCCCTCACCCTCACCCTCCCC CTTCTCCTCCCCTCCCCCCTCTCCATCCCCCTCCCCCTCCCCCTTCTCCT CCCCTCCTCCTCCTTCCCGTCTCCCTCCCCATCTCCATCCCCCTCCCCCT CCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0081 a0001c0001t0007g0081	1	194	0.0052	1211	c.-12 others(1230): Show c.-12-17660_-12-17659insCCCTCCCTTCCCCCTCCCCCTCCTCC CCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCC CCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCC CCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCC CCTCCCTTCCCGCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCC CCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCC CCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCC CCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCC CCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCC CCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCTCCCTTC CCCCTCCCCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCC CTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCCTCCCCTCCCTCCCCC CCTCCTCTTCTTTCACCTCCCCTCCTCTTCCTTCACCTCCCCCTCCCCCC AATCACCTCCCCCTCCCCCCGCTCACCTCCCCCTCCCCCCACTCCTCCCC CTCTCACTCCTCCCCCTCCCTCCTCCCCCTGCCCTTCCCCTCCCTCCTCC CCCTCCTCCCCCTCTCCCTCTCTCTGTCTTCCCCCCTCCCCCTCCCTTTT CCCCCTCCTCCTCCCCTCCCTGTTCCCCCTCCCCCTTCCCCCTCCCCCTT CCCCCTCCCTCTTCCCCCTCCCTCTTCCCCCTCCCCTCCCCTTCCCCCTC CCCCTTCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTTCCCCTTCCCCCTC CCCCTCCCCCTTCCCCCTCCCCCTCCCCCTTCCCCTTCCCCCTCCCCCTT CCCCTTCCCCCTTCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTTCC CCTCCCCCTTACTCTCCCCTTCCCCTCCCCTCCCCCCTCTCCCTCACCCT CACCCTCCCCCTTCTCCTCCCCTCCCCCCTCTCCATCCCCCTCCCCCTCC CCCTTCTCCTCCCCTCCTCCTCCTTCCCGTCTCCCTCCCCATCTCCATCC CCCTCCCCCTCCTCCTCCTCCTCCTCCCCCTCCCC	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGMT_chr10_129462241_129775983	129518568	C C	CCCTGCCC others(1204): Show CCCTGCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTGCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCC CGCTCCCCCTCCTCCCCTCCCTTCCCGCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCTCTCCCTTCCCCCTCCCCC TCCTCCCCTCCCTCCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCC TCCTCCCCTCCCTCCCCCCTCCTCTTCTTTCACCTCCCCTCCTCTTCCTT CACCTCCCCCTCCCCCCAATCACCTCCCCCTCCCCCCGCTCACCTCCCCC TCCCCCCACTCCTCCCCCTCTCACTCCTCCCCCTCCCTCCTCCCCCTGCC CTTCCCCTCCCTCCTCCCCCTCCTCCCCCTCTCCCTCTCTCTGTCTTCCC CCCTCCCCCTCCCTTTTCCCCCTCCTCCTCCCCTCCCCGTTCCCCCTCCC CCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCTTCCCCCTCCCCTTTC CCCTCCCCCTTCCCCCTCCCCCTTCCCCTTCCCCCTCCCCCTTCCCCTTC CCCCTCCCCCTTCCCCCTCCCCCTTCCCCTTCCCCCTTCCCCTTCCCCTC CCCCTTACTCTCCCCTTCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCC TCCCCTCCCCCCTCTCCCTCACCCTCACCCTCCCCCTTCTCCTCCCCTCC CCCCTCTCCATCCCCCTCCCCCTCCCCCTTCTCCTCCCCTCCTCCTCCTT CCCGTCTCCCTCCCCATCTCCATCCCCCTCCCCCTCCTCCTCCTCCTCCT CCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	194	0.0052	1211	c.-12 others(1230): Show c.-12-17670_-12-17669insGCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCCCCCTG CCCCTCCTCCCCTCCCTTCCCGCTCCCCCTCCTCCCCTCCCTTCCCGCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CTCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCCTC CCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCTCTTCTTT CACCTCCCCTCCTCTTCCTTCACCTCCCCCTCCCCCCAATCACCTCCCCC TCCCCCCGCTCACCTCCCCCTCCCCCCACTCCTCCCCCTCTCACTCCTCC CCCTCCCTCCTCCCCCTGCCCTTCCCCTCCCTCCTCCCCCTCCTCCCCCT CTCCCTCTCTCTGTCTTCCCCCCTCCCCCTCCCTTTTCCCCCTCCTCCTC CCCTCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTT CCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCT CCCCTTCCCCCTCCCCTTTCCCCTCCCCCTTCCCCCTCCCCCTTCCCCTT CCCCCTCCCCCTTCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCT TCCCCCTTCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTTCCCCTCC CCCTTACTCTCCCCTTCCCCTCCCCTCCCCCCTCTCCCTCACCCTCACCC TCCCCCTTCTCCTCCCCTCCCCCCTCTCCATCCCCCTCCCCCTCCCCCTT CTCCTCCCCTCCTCCTCCTTCCCGTCTCCCTCCCCATCTCCATCCCCCTC CCCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCT	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
OLFM1_chr9_135082668_135126180	135096119	T T	TTCTCCCC others(1204): Show TTCTCCCCTCCCTCCTCTCCTCCCTCCTCCTTCTCCTCCTCCTTCCCCTC CCTCCTCTCCTCCTCTTCCTCCTCCTCCTTCCCCTCCTTCCTCTCCTCCT CCTCCCTCTCCCCTCCCCTCCCTCCCCTCCTCCTCTTCCCCTCCTCTTCC TCCTCTCTTCCCCTCCTTCCCTCCTTCTCTCCTCCTCCTCCCCCTCTCCC TCCCTCCTCTCCTTCTCCTTCCCTCCCTCCTCTTCCCTCCTCTCTCCTCC TCCTCCTTCCCCTCCTTCTCCTCCTCCTTCCCCTCCCTTCCCTTCTTTCC TCCTTCTCCTTCTCCTTCCCTGCCCTCCTCTCACCTCCTCTCTTCTTCCT CTTCTCCTCTCCCCCTCATCTCCCTTCTCCCCCCTCCTCCTCTCCCCCTA CCCCTCTCCTCCTCCTCTCCCCCTCCCCTTCTCCTCCTCCTCTCCCCCTC CCCCTCTCCTCCTCCTCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCTCTC CTCCTCCTCTCCCCCTCCCTCTCTTCCTCCTTCTGCTCCTCCTTCTCCTC CTCCTTCCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCCCTATTTTC TCCCTTTCTCCTCCCCTTCCTTCCTTCTCCGGCTCCTCCTCTGTTCTTCC CCTTCCTCCTCCTCCCCCTCCTCTCCTCCCCTCTCCTCTTCCCCTTGCCC CTTTGCCTCCCCTTTCCTCTCTCTCCTCTTCCTCCCTTTTCTCTTCCTCA TCCCCCTCCCCCTCCTCCTTTCTCTTCCTCCCCCTTACCCTTCCTCCTCC TCTCCCTTCTCTTCCTTGTCCCTCCCCCTCCTCTTCCCCCTCTCTCCCTC CTCCTCATTCCTCCCCCACCTTGTCTTCTTCCCTTTCTCCTCCTCATCGC CCTCCTTCCTCCTCCCCTTCCTCTTCCTCTTCCTTCCCCCTCTCCTCTTC CTCCCCCTCCTCCTCCCCTCTTCATTCCTCCTCTTCCTCCTCCCTCTCCT CCTTCTCCTCCTCTTCCTCCTCCCCCTCTTCATCCTCCTCTTCCTCCCCT CTTCATCCTCCTCTTCCTCCTCCCCTCTTCATCCTCCTCTTCCTCCCCCT CTTCATCCTCCTCTTCCTCCTCCCTCTCCTTCATCCTCTTCTTCCTCCTC CCTTCTCCTCCTCTTCCTCCTCCTCCCCATCTTCATCCTCCTCTTCCTCC TCCCTCTCCTTC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	360	0.0028	1211	c.456 others(1226): Show c.456+100_456+101insTCTCCCCTCCCTCCTCTCCTCCCTCCTCCT TCTCCTCCTCCTTCCCCTCCCTCCTCTCCTCCTCTTCCTCCTCCTCCTTC CCCTCCTTCCTCTCCTCCTCCTCCCTCTCCCCTCCCCTCCCTCCCCTCCT CCTCTTCCCCTCCTCTTCCTCCTCTCTTCCCCTCCTTCCCTCCTTCTCTC CTCCTCCTCCCCCTCTCCCTCCCTCCTCTCCTTCTCCTTCCCTCCCTCCT CTTCCCTCCTCTCTCCTCCTCCTCCTTCCCCTCCTTCTCCTCCTCCTTCC CCTCCCTTCCCTTCTTTCCTCCTTCTCCTTCTCCTTCCCTGCCCTCCTCT CACCTCCTCTCTTCTTCCTCTTCTCCTCTCCCCCTCATCTCCCTTCTCCC CCCTCCTCCTCTCCCCCTACCCCTCTCCTCCTCCTCTCCCCCTCCCCTTC TCCTCCTCCTCTCCCCCTCCCCCTCTCCTCCTCCTCTCCCCCCTCCCCCT CCTCTCCCCTCCCCCTCTCCTCCTCCTCTCCCCCTCCCTCTCTTCCTCCT TCTGCTCCTCCTTCTCCTCCTCCTTCCCTCCCCCCTCCTCCTCCTCCTCC TCCCCCCTCCCCTATTTTCTCCCTTTCTCCTCCCCTTCCTTCCTTCTCCG GCTCCTCCTCTGTTCTTCCCCTTCCTCCTCCTCCCCCTCCTCTCCTCCCC TCTCCTCTTCCCCTTGCCCCTTTGCCTCCCCTTTCCTCTCTCTCCTCTTC CTCCCTTTTCTCTTCCTCATCCCCCTCCCCCTCCTCCTTTCTCTTCCTCC CCCTTACCCTTCCTCCTCCTCTCCCTTCTCTTCCTTGTCCCTCCCCCTCC TCTTCCCCCTCTCTCCCTCCTCCTCATTCCTCCCCCACCTTGTCTTCTTC CCTTTCTCCTCCTCATCGCCCTCCTTCCTCCTCCCCTTCCTCTTCCTCTT CCTTCCCCCTCTCCTCTTCCTCCCCCTCCTCCTCCCCTCTTCATTCCTCC TCTTCCTCCTCCCTCTCCTCCTTCTCCTCCTCTTCCTCCTCCCCCTCTTC ATCCTCCTCTTCCTCCCCTCTTCATCCTCCTCTTCCTCCTCCCCTCTTCA TCCTCCTCTTCCTCCCCCTCTTCATCCTCCTCTTCCTCCTCCCTCTCCTT CATCCTCTTCTTCCTCCTCCCTTCTCCTCCTCTTCCTCCTCCTCCCCATC TTCATCCTCCTCTTCCTCCTCCCTCTCCTTC	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	3/5			chr9	TogoVar
PIEZO1_chr16_88710338_88790220	88713038	G G	GCCCCTGA others(1204): Show GCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGA GAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCC CTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCGAGAGCCCTCCTTCCACGGGCCCTGACCCCCACTC ATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGG CCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCCTTCCCCAGGCCCTGACCCCCACTC ATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACT CATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0003 a0003	a0003c0083 a0003c0083	a0003c0083t0002 a0003c0083t0002	a0003c0083t0002g0161 a0003c0083t0002g0161	1	282	0.0036	1211	c.25 others(1222): Show c.2566_*2567insTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCT CTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGT ATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGG GGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGC CCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGA AGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCT CTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGT ATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTG GGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGG GCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCTGGGG AAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG CTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGG TATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGT GGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAG GGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGTGG AAGGAGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCT CTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGG CATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTG GGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGG ACCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGG GAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGG CTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGG GTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGT GGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGCTCTCAGGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2299		chr16	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1204): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC CGGGAGGGAGGTGGCGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCC GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCCTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CGCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCC GTCCGGGAGGAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0007 a0007	a0007c0003 a0007c0003	a0007c0003t0001 a0007c0003t0001	a0007c0003t0001g0012 a0007c0003t0001g0012	1	134	0.0075	1211	c.575 others(1232): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGAGGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGATCCCGCCACCTCCCTCCCGGACTGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCAACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51982185	T T	TGGGGGGG others(1204): Show TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC TGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCAGCCGCCCCGTCCGGGAGG TGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC GGGAGGGAGGTGGCGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCCTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCC CGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGATGGTG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0007 a0007	a0007c0003 a0007c0003	a0007c0003t0001 a0007c0003t0001	a0007c0003t0001g0006 a0007c0003t0001g0006	1	134	0.0075	1211	c.575 others(1232): Show c.5752-22160_5752-22159insCACCATCCTCCCGGACGGGGCGGC TGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGAGGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGATCCCGCCACCTCCCTCCCGGACTGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGG GGCGGCTGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCAACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	398410	G G	GTACCCCC others(1204): Show GTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCC CCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCATCACCTCCATACCCCCACACACACCTG CGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCA CACACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTA CCCCCACATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCAC CTCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCT GCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTA CCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACACCCGCACACAC CTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCC GCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCC CTACCCCCGCACACACCTGCATCACCTCCATACCCCCACACACACCTGCG TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACA CACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACC CCCACATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCACCT CCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACC CCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCT GCGTCACCTCCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0011 a0011	a0011c0031 a0011c0031	a0011c0031t0001 a0011c0031t0001	a0011c0031t0001g0167 a0011c0031t0001g0167	1	216	0.0046	1211	c.106 others(1228): Show c.1069-554_1069-553insGTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGCG TCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACA CACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACC CCCGCACACACCTGCATCACCTCCATACCCCCACACACACCTGCGTCACC TCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCT CCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACCCCCAC ATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCACCTCCCTA CCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCT GCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGC ACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCGCACACACCTGCGTCACCTCCGTACACCCGCACACACCTGCGTC ACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACA CCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCC CGCACACACCTGCATCACCTCCATACCCCCACACACACCTGCGTCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCC GTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACCCCCACAT ATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCACCTCCCTACC CCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCAC ACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
RABL6_chr9_136802948_136846187	136803215	G G	GGGGCCCC others(1204): Show GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGCCCCCCAGGGCGGGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	330	0.0030	1211	c.-49 others(1222): Show c.-4982_-4981insGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCGGGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4732		chr9	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(1204): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCAT CCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCC ACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCAC CCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCC ACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTC CCCTCCATTTATTCAACCTCCCACCCACCAACCCATCCACCTTCCCCTCC ATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATTTAT TCAACCTCCCACCCACCAACCCATCCACCTTCCCCTCTATCTATTCAACT ATTCAACCACCCACCCACCCACCCACCATCCATCCACCTTCCGCTCCACC TATTCACCCATCCACCCACCCACCCATCTACCTTTCTCTCCACCTATTCA CCCATCCACCCACCCACCCACCCATCCACCTTCCTCTCCATCTATTCAAC TATCCACCCACCCACCCATCTACCTTCCTCTCCATCTATTCAACTATCCA CCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCATCCACCCACC CACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCA TCCACCTTCCCCTCCATCTATTCACCCATCCACCCACCCACCCATCTACC TTTCTCTCCACCTATTCACCCATCCACCCACCCACCCATCTACCTTCCTC TCCATCTATTCAACTATCCACCCACCCACCCACCCATCCACTTTCCCCTC CATCTATTCAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0057 a0001c0002t0058g0057	1	370	0.0027	1211	c.438 others(1228): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATG GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGA TGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTG AATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATAGTTGAATAGA TGGAGAGGAAGGTAGATGGGTGGGTGGGTGGATAGTTGAATAGATGGAGA GGAAGGTGGATGGGTGGGTGGGTGGGTGGATGGGTGAATAGGTGGAGAGA AAGGTAGATGGGTGGGTGGGTGGATGGGTGAATAGGTGGAGCGGAAGGTG GATGGATGGTGGGTGGGTGGGTGGGTGGTTGAATAGTTGAATAGATAGAG GGGAAGGTGGATGGGTTGGTGGGTGGGAGGTTGAATAAATGGAGGGGAAG GTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGAT GGGTTGGTGGGTGGGAGGTTGAATAAATGGAGGGGAAGGTGGATGGGTGG GTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGT GGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGG GTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGT AGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGG AGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGA AGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGG ATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGT GGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGG GTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGAT GGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGA GTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGAT GGAGGGGAAGGTGGATGGGTGGGTGGGTGGATG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13			chr5	TogoVar
SPATA3_chr2_230991121_231013040	231005530	C C	CACCATCA others(1204): Show CACCATCACCATCATCATCACCATCACCACCACCACCATCATCACCACCA CCATCACCATCATCACCACCACCATCATCACCACCACCATCACCATCATC ACCACCACCATCACCATCATCATCATCATCACCACCACCACCATCATCAC CACCACCACCATCATCACATCACTATCATCACCACCACCATCACCATCAT CATCACCATCACCATCATCACCATCACCATCACCACCATCAACATCACCA TCATCACCATCATCACCACCATCATCACCATCACCATCACCACCATCATC ATCACCATCACCATCATCATCATCACCACCATCATCACCACCATTACCAT CATCATCACTATCACCACCACCACCATCACCATCACCACCATCACCATCA CCACCACCACCATCACCATCACCACCACCACCATCACCATCATCACCACC ACCACCATCACCATCACCACCACCACCACCATCATCACTACCACCACCAC CATCATCACCACCATCATCACCACCATGACCATCGTCACCACCACCATCA TCACCACCATAATCACCACCACCATCATCACCGTCACCATCATCACCACT ACCATCACCACCACCACCACCATCACCACCACCATCATCACCATCATCAT ATCACCATCATCATCATCACAACCACCATCATCACCACCACCACCATCAC CACAACCATCATCATCATCATCACCACCACCACCATCATCACCATCATCA TCACCATCACCATCATCATAACCATCACTATCACCACCACCACCACCATC ACCACCACCATCACCATCATCACTGCCATCATCACCATCACCATCATCAT CACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCA TCACCATCACCATCACCACCACCACCATCACCATCATCACCGCCATCATC ACCATCACCATCACCACCACCATCGCCATCATCACCGCCATCATCACCAT CACCATCACCACCAGCATCACCATCATCATCACCACCACCATCACCACCA CCATCACCATCATCACCGCCATCATCACCACAACCACCATCATCACCATC ACCATCATCATCACCACCACCATCACCATCATCACCCACCATTACCATCA TCACCGCCATCATCACCATCACCATCATCACCATCATTACCACCATCACC ATCAGCATCGCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0153 a0002c0002t0004g0153	1	436	0.0023	1211	c.11 others(1230): Show c.118+1413_*118+1414insCCATCACCATCATCATCACCATCACC ACCACCACCATCATCACCACCACCATCACCATCATCACCACCACCATCAT CACCACCACCATCACCATCATCACCACCACCATCACCATCATCATCATCA TCACCACCACCACCATCATCACCACCACCACCATCATCACATCACTATCA TCACCACCACCATCACCATCATCATCACCATCACCATCATCACCATCACC ATCACCACCATCAACATCACCATCATCACCATCATCACCACCATCATCAC CATCACCATCACCACCATCATCATCACCATCACCATCATCATCATCACCA CCATCATCACCACCATTACCATCATCATCACTATCACCACCACCACCATC ACCATCACCACCATCACCATCACCACCACCACCATCACCATCACCACCAC CACCATCACCATCATCACCACCACCACCATCACCATCACCACCACCACCA CCATCATCACTACCACCACCACCATCATCACCACCATCATCACCACCATG ACCATCGTCACCACCACCATCATCACCACCATAATCACCACCACCATCAT CACCGTCACCATCATCACCACTACCATCACCACCACCACCACCATCACCA CCACCATCATCACCATCATCATATCACCATCATCATCATCACAACCACCA TCATCACCACCACCACCATCACCACAACCATCATCATCATCATCACCACC ACCACCATCATCACCATCATCATCACCATCACCATCATCATAACCATCAC TATCACCACCACCACCACCATCACCACCACCATCACCATCATCACTGCCA TCATCACCATCACCATCATCATCACCACCACCATCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCATCACCATCACCACCACCACCAT CACCATCATCACCGCCATCATCACCATCACCATCACCACCACCATCGCCA TCATCACCGCCATCATCACCATCACCATCACCACCAGCATCACCATCATC ATCACCACCACCATCACCACCACCATCACCATCATCACCGCCATCATCAC CACAACCACCATCATCACCATCACCATCATCATCACCACCACCATCACCA TCATCACCCACCATTACCATCATCACCGCCATCATCACCATCACCATCAT CACCATCATTACCACCATCACCATCAGCATCGCGA	SPATA3	ENSG00000173699.17	transcript	ENST00000433428.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(1204): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGA AAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGG AGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGAAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGG AGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAG GGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGG AAAGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAG GAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAG GAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGA GGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	322	0.0031	1211	c.597 others(1228): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTT CCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCC CTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCT CCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCC TCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTT CCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTT TCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCTCC CTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCT TTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTT CCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TMEM132D_chr12_129066726_129909025	129828693	G G	GAGGGAGA others(1204): Show GAGGGAGAAGGAAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAG GGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAA GGAGGGAGGGAGGGAGGAAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGA AAGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAG GAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGA AAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGG AGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAG GGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGG AGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGG AGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAGGGAGGGAGGGAG GGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGG AGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGGGAG GAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGG AGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAG GGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGG AGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAG GGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGGG AGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAG GAAAGGAGGAAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGG AGGAAAGGAGGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0017 a0001c0013t0017	a0001c0013t0017g0028 a0001c0013t0017g0028	1	94	0.0106	1211	c.79+ others(1228): Show c.79+74567_79+74568insTCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTCC CTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTTCCT CCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCT CCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTTCCTCC TTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCT CCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTTC CTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCT CCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCC TTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCC CTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCC TTTCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCC CTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCT CCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCC CTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCT CCCTCCCTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCC CTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCC CTCCCTCCCTCCTTTCCTCCCTTCCTTCTCCCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
ZNF605_chr12_132913306_132961306	132954462	G G	GGAGGGAG others(1204): Show GGAGGGAGGAGAAGGGTAGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGA AGGGTGGGGAGGGGGGAGAAGGGGCTTCAGTCACTCTTGCAGGTGAGGTG GGGAGGGGATGAGAAGGATGGGGGAGGAGAAGGGTGGGAGGGGAGGAGAA GGGTGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTAGGGAGGGG GGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTG GGGAGGGGAGGAGAAGGTAGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAG AAGGGTGGGGAGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAG GGGGGAGAAGGGTGGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAG GGTAGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGG GGAGAAGGGTGGGGAGGGGGGGAAAAGGGTGGGGAGGGAGGAGAAGTGTG GGGAGGGGGGAGAAGGGTGGGGAGGGGGAGAAGGGTGGGGAGGGGGGGAG AAGTGTGGGAGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGG GGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGG GTGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAG GAGAAGGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGAGAAGGGTGGG GAGGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGGG AGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGG GAGGGGGGGAGAAGGGTGGGAGGGGGGGAGAAGGGTGGGGAGGGAGGAGA AGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGG GGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGAGAAGGG TGGGGAGGGGAGGAGAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGA GAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGA GGGGGGGAGAAGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGGAGAA GGGTGGGGAAGGGGGAGAAGGGTGGGGGGGAGAAGGGTAGGGAGGGGAGG AGAAGGGTGGGA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	126	0.0079	1211	c.-28 others(1230): Show c.-286+1780_-286+1781insTCCCACCCTTCTCCTCCCCTCCCTAC CCTTCTCCCCCCCACCCTTCTCCCCCTTCCCCACCCTTCTCCCCCCCTCC CCACCCTTCTCCTCCCCTCCCCACCTTCTCCCCCCCTCCCACCCTTCTCC CCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCTCCCCACC CTTCTCCCCCCTCCCCACCCTCTCCTCCCCTCCCCACCCTTCTCCCCCTC CCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTC TCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCTCCCC ACCCTTCTCCCCCCCTCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCC CCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCCTCCCCA CCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCC CCTCCCCACCCTTCTCCCCCCTCCCCACCCCTTCTCCTCCCCTCCCCACC CTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCACCCTTCTCCCCCCTC CCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTC TCCCCCCTCCCCACCCTTCTCCTCCCTCCCACACTTCTCCCCCCCTCCCC ACCCTTCTCCCCCTCCCCACCCTTCTCCCCCCTCCCCACACTTCTCCTCC CTCCCCACCCTTTTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCT TCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCTACCCTTCTCCTCCCCTC CCCACCCTTCTCCCCCCTCCCCCACCCTTCTCCCCCCTCCCCACCCTTCT CCCCCCCTCCCCACCCTTCTCCCCCTCCCCACCCTTCTCCCCCCTCCCCA CCCTTCTCCCCCCTCCCTACCTTCTCCTCCCCTCCCCACCCTTCTCCCCC CCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCTACCCT TCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCACCCTTCTCCTCCCCTCC CACCCTTCTCCTCCCCCATCCTTCTCATCCCCTCCCCACCTCACCTGCAA GAGTGACTGAAGCCCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCC ACCCTTCTCCCCCCTCCCTACCCTTCTCCTCCCTC	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	1/4			chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCCGCCA others(1205): Show ACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTC ACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCA CAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCAC CCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCAT CCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCT TCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGC CCACCTTCCTGTCCCCTCACCTGCCACGGCCTACCTTCCTGTCCCCTCAC CTGCCACGGCCTACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCT GCCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGC CCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGC CTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCAC CTTCCTGTCCCCTCACCTGCCACGGCCTACCTTCCTGTCCCCTCACCTGC CACGGCCTACCTTCCTGCCCCCTCACCTGCCACGGCCCACCTTCCTGCCC CCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCAC CTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGC CACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCC TCGCCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCT TCCTGTCCCCTCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0129 a0005c0010t0001g0129	1	284	0.0035	1212	c.411 others(1229): Show c.4112+674_4112+675insCGAGGGGACAGGAAGGTGGGCCGTGGCA GGCGAGGGGACAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTG GGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGGCA GGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGG CGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGG CCGTGGCAGGTGAGGGGGCAGGAAGGTAGGCCGTGGCAGGTGAGGGGACA GGAAGGTAGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGG TGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAA GGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAG GGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGGCAGGAAGGTGGGCCGT GGCAGGTGAGGGGACAGGAAGGTAGGCCGTGGCAGGTGAGGGGACAGGAA GGTAGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAG GATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGG TGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATG GGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTG AGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGG CGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAG CTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGA TGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(1205): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAG GCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGA AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAAGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	344	0.0029	1212	c.85- others(1229): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTTCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTC CTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCTTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTTCCCCT CCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCC TTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTT CCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCC CTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(1205): Show CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCTTCCC CGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCT GACCCCCACTCATGCCCCTGAGAGCCCCCTTACCCGGGCCCTGACCCCCA CTCATACCCCTGAGAGCCCCCCTTCCCCAGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGA GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0189 a0003c0004t0003g0189	1	418	0.0024	1212	c.737 others(1227): Show c.737+179_737+180insCTGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGG GTCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTG AGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCTCC TTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCGAGAGCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT ACCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCAGG CCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGG GCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCCT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar

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