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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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
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(711): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCTCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC TCCCCTCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTC CTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCC TCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0130 a0006c0010t0001g0130	1	140	0.0071	718	c.114 others(737): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCTCTCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCTCCT CCCCTCCTCCCCTCCCCTCCCCTCCTCCCTCCTCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCT CCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTC CCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(711): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAG CCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	256	0.0039	718	c.241 others(737): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCG GGCGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(711): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAG CCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	256	0.0039	718	c.241 others(737): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCG GGCGGGGGGGCTGACCCCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(711): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTAT ATATATATAAGATTTTATATATATATAAAATAAGATTTTATATATATATA AGATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	330	0.0030	718	c.-5+ others(733): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATCTTATATATATAT AAAATCTTATTTTATATATATATAAAATCTTATATATATATAAAATCTTA TTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTT ATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATA TATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATT TTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAA TATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATAAGA TTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAA AATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAGTAAGATTTTATATATATATAAAATATATATAAAG TAAGATTTCATATATATAAAATATAAAGTAAGATTTTATATATATATAAA ATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATA TATAAAATAAGATTTTATATATATATAAAATATATAAAAAATATATATCA AATATATATAAAATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NOTCH1_chr9_136489433_136551048	136535645	T T	TCCCGGGG others(711): Show TCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCC CTCCCAGGAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCC CTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCC CTCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACT CAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCAC TCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGC ACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGGGGGGAG CACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGG AGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGG GAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGG GGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGGG GGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGG GGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGGG GGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGGG GGAGCACTCAGGATCCCTC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0154 a0001c0013t0004g0154	1	324	0.0031	718	c.140 others(735): Show c.140+8378_140+8379insGAGGGATCCTGAGTGCTCCCCCCGACCC ACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCC ACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCC ACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCC ACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACC CACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCA CCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCC ACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCT CCACCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCC TCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC TCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCC CCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGA GTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGA GTGCTCCCCCCGACCCACCCTGCACCCATTGCTCCTGGGAGGGATCCTGA GTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535833	A A	AGGGGGGA others(711): Show AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTCGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCAAT GGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGAGCAAC GGGTACAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0312 a0001c0001t0003g0312	1	324	0.0031	718	c.140 others(735): Show c.140+8190_140+8191insGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGTACCCGTTGCTCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCATGCACCCATTGCCCCA GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCGACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCA CCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCC TGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCCCTCC others(711): Show TCCCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCCCACCCTCCCCTTCCCCTCCCCTCC CCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTC CCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCC TCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTT CCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0246 a0001c0001t0018g0246	1	326	0.0031	718	c.433 others(735): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGAGG GAAGGGGAAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAG GGGGAGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAG GGGAAGGGGAGGGTGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGGGGGA others(711): Show AAGGGGGAAGATGGGAGGGGGAGGAGAGGAAGGAGGGGGAAGATGGGAGG AGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAA GACGGGAGGAGGAGTGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAAAG GGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAG GAGAGGAAAGGGGGGAAGACGGGAGGAGGAGAGGAAAGAGGGGGAAGACG GGAGAAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGGAGAGGAAAGG GGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGG AGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAAGACGG GAGGAGGAGAGGAAAGAGGGGGAAGACGGGAGAAGGAGAGGAAAGAGGGG GAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGA GGAAAGAGGGGGAAGATGGGAGGGGGAGGAGAGGAAAGAGGGGGAAGACG GGAAGAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGG GGGAAGACGGGAGGAGGAGGACAGGAAAGAGGGGGAAGATGGGAGGAGAA GAGGAAAGAGGGGGAAGATGGGAGGAGAAGAGGAAAGAGGGGGAAGATGG AAGGAGGAGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0015 a0001c0008t0015	a0001c0008t0015g0145 a0001c0008t0015g0145	1	326	0.0031	718	c.162 others(737): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCTTCCATCTT CCCCCTCTTTCCTCTTCTCCTCCCATCTTCCCCCTCTTTCCTCTTCTCCT CCCATCTTCCCCCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCC TCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTC CCCCTCTTTCCTCTCCTCCCCCTCCCATCTTCCCCCTCTTTCCTCTCCTC CTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCT TTCCTCTCCTTCTCCCGTCTTCCCCCTCTTTCCTCTCCTCCTCCCGTCTT CCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTC CCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCCTTTCC TCTCCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTTCTCCCGTCTTC CCCCTCTTTCCTCTCCTCCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCC CATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCCTTTCCT CTCCTTCTCCCATCTTCCCCCTCTTTCCACTCCTCCTCCCGTCTTCCCCC CTTTCCTCTCCTCCTCCCATCTTCCCCCCTTTCCTCTTCTCCTCCTCCCA TCTTCCCCCTCCTTCCTCTCCTCCCCCTCCCATCTTCCCCCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
PCDH15_chr10_53797771_54806231	54332298	A A	ATATTATT others(711): Show ATATTATTATATATAATATATATATAATCTATATTATATATTATTATATA TAATATATATATAATATATATTATATATTATTATATATAATATAATATAA TATATATTATATATTATTATATATAATATAATATAATCTATATTATATAT TATTATATATAATATTATATAATCTATATTATATAATATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATCTATATTATA TATTATATATAATATAATATAATCTATATTATATATTATATATAATATAA TATAATCTATATTATATATTATATATAATATAATATAATCTATATTATAT ATTATATATAATATAATATAATCTATATTATATATTATATATAATATAAT ATAATCTATATTATATATTATATATAATATAATATAATCTATATTATATA TTATATATAATATAATATAATCTATATTATATATTATATATAATATAATA TAATCTATATTATATATTATATATAATATAATATAATCTATATTATATAT TATATATAATATAATATAATCTATATTATATATTACTATATATAATATAA TATAATCTATATTATATATTATTATATATAATATAATATAATCTATATTA TATATTATATATAATATAATATAATCTATATTATATATTATTATATATAA TATAATCTATATTATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	102	0.0098	718	c.595 others(735): Show c.595-2593_595-2592insATATATAATATAGATTATATTATATATA ATAATATATAATATAGATTATATTATATTATATATAATATATAATATAGA TTATATTATATTATATATAATAATATATAATATAGATTATATTATATTAT ATATAGTAATATATAATATAGATTATATTATATTATATATAATATATAAT ATAGATTATATTATATTATATATAATATATAATATAGATTATATTATATT ATATATAATATATAATATAGATTATATTATATTATATATAATATATAATA TAGATTATATTATATTATATATAATATATAATATAGATTATATTATATTA TATATAATATATAATATAGATTATATTATATTATATATAATATATAATAT AGATTATATTATATTATATATAATATATAATATAGATTATATTATATTAT ATATAATATATAATATAGATTATATTATATTATATATAATATATAATATA GATTATATTATATATAATAATATATAATATAGATTATATTATATTATATA TAATATTATATAATATAGATTATATAATATTATATATAATAATATATAAT ATAGATTATATTATATTATATATAATAATATATAATATATATTATATTAT ATTATATATAATAATATATAATATATATTATATATATATTATATATAATA ATATATAATATAGATTATATATATATTATATATAATAATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332298	A A	ATATTATT others(711): Show ATATTATTATATATAATATATATATAATCTATATTATATATTATTATATA TAATATATATATAATATATATTATATATTATTATATATAATATAATATAA TATATATTATATATTATTATATATAATATAATATAATCTATATTATATAT TATTATATATAATATTATATAATCTATATTATATAATATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATCTATATTATA TATTATATATAATATAATATAATCTATATTATATATTATATATAATATAA TATAATCTATATTATATATTATATATAATATAATATAATCTATATTATAT ATTATATATAATATAATATAATCTATATTATATATTATATATAATATAAT ATAATCTATATTATATATTATATATAATATAATATAATCTATATTATATA TTATATATAATATAATATAATCTATATTATATATTATATATAATATAATA TAATCTATATTATATATTATATATAATATAATATAATCTATATTATATAT TATATATAATATAATATAATCTATATTATATATTACTATATATAATATAA TATAATCTATATTATATATTATTATATATAATATAATATAATCTATATTA TATATTATATATAATATAATATAATCTATATTATATATTATTATATATAA TATAATCTATATTATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	94	0.0106	718	c.595 others(735): Show c.595-2593_595-2592insATATATAATATAGATTATATTATATATA ATAATATATAATATAGATTATATTATATTATATATAATATATAATATAGA TTATATTATATTATATATAATAATATATAATATAGATTATATTATATTAT ATATAGTAATATATAATATAGATTATATTATATTATATATAATATATAAT ATAGATTATATTATATTATATATAATATATAATATAGATTATATTATATT ATATATAATATATAATATAGATTATATTATATTATATATAATATATAATA TAGATTATATTATATTATATATAATATATAATATAGATTATATTATATTA TATATAATATATAATATAGATTATATTATATTATATATAATATATAATAT AGATTATATTATATTATATATAATATATAATATAGATTATATTATATTAT ATATAATATATAATATAGATTATATTATATTATATATAATATATAATATA GATTATATTATATATAATAATATATAATATAGATTATATTATATTATATA TAATATTATATAATATAGATTATATAATATTATATATAATAATATATAAT ATAGATTATATTATATTATATATAATAATATATAATATATATTATATTAT ATTATATATAATAATATATAATATATATTATATATATATTATATATAATA ATATATAATATAGATTATATATATATTATATATAATAATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(711): Show GATGGGATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATG GGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGG ATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTA GGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGA TGTGGATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGG GATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGT GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGG AAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02922.hp1 HG02896.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0296 a0001c0001t0001g0254 a0001c0001t0001g0296	2	308	0.0065	718	c.-8- others(735): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCC ATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATC CACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTC ATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATC CCATCCCATCTACATCCCATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(711): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATAGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGT GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTG GATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGG AAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG00735.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0099 a0001c0001t0001g0103	2	308	0.0065	718	c.-8- others(735): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCT TTCCATCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCAT CCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCC TTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACC CCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCAC ATCTCATTCCACCCTATCCACATCCCATCACATCCCATCCACATCCCATT CCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(711): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGA TGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGG GATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGG AAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG00642.hp2 others(13): Show HG00544.hp1 HG00621.hp2 HG00642.hp2 HG01070.hp1 HG01934.hp1 HG02027.hp2 HG02135.hp1 HG02523.hp2 HG02735.hp2 NA18943.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0002c0015	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0018 a0002c0006t0001 a0002c0006t0003 a0002c0015t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0140 others(13): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0229 a0002c0002t0001g0097 a0002c0002t0003g0076 a0002c0002t0003g0098 a0002c0002t0003g0125 a0002c0002t0007g0126 a0002c0002t0018g0215 a0002c0006t0001g0208 a0002c0006t0001g0214 a0002c0006t0003g0095 a0002c0006t0003g0096 a0002c0015t0001g0181	16	308	0.0520	718	c.-8- others(735): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCAT CCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCC TTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACC CCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCAC ATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATT CCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(711): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGT GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGG AAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp1 HG01243.hp1 others(5): Show HG00741.hp1 HG01175.hp1 HG01243.hp1 HG01358.hp1 HG02683.hp2 HG03491.hp1 HG03492.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0014 a0001c0001 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0005c0014t0001	a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0211 others(5): Show a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0211 a0001c0001t0002g0031 a0001c0001t0002g0172 a0001c0001t0002g0225 a0001c0001t0007g0013 a0005c0014t0001g0174	8	308	0.0260	718	c.-8- others(735): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCAT CCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCC TTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACC CCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCAC ATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATT CCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(711): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGT GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTG GATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGG AAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02165.hp2 HG03491.hp2 others(3): Show HG01123.hp1 HG02165.hp2 HG03491.hp2 HG03654.hp2 HG04204.hp2 NA18981.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0042 a0001c0001t0001g0154 a0001c0001t0001g0159 others(3): Show a0001c0001t0001g0042 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0187 a0001c0001t0002g0104 a0002c0002t0001g0202	6	308	0.0195	718	c.-8- others(735): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCT TTCCATCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCAT CCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCC TTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACC CCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCAC ATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATT CCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(711): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGT GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTG GATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAA TAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGG GATGTGGATGGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	308	0.0033	718	c.-8- others(735): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCATCCCACTCCATCCACATCCCTTTCCAT CCCATCCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCC CATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCT TTCCATCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCAT CCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCC TTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACC CCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCAC ATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATT CCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(711): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGG AAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 NA18994.hp2 HG02109.hp1 HG02572.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0237 a0001c0003t0004g0262 a0001c0003t0004g0275 a0001c0001t0001g0237 a0001c0003t0004g0262 a0001c0003t0004g0275	3	308	0.0097	718	c.-8- others(735): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACAT CCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCC ATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCAT CCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCC TTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACC CCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCAC ATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATT CCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(711): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTG GATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGG AAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0257 a0001c0003t0001g0257	1	308	0.0033	718	c.-8- others(735): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCT TTCCATCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACAT CCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCC ATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCAT CCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCC TTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACC CCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCAC ATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATT CCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(711): Show GATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATGTGGAT GGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGGGTGGG ATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATG TGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGA GTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATA GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGT GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGG AAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0292 a0001c0004t0001g0292	1	308	0.0033	718	c.-8- others(735): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACAT CCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
SART1_chr11_65956734_65985137	65970847	A A	AGCTGCTG others(711): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGGTGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGG ATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0082 a0002c0001t0001g0082	1	384	0.0026	718	c.157 others(737): Show c.1572+3030_1572+3031insCTGAGGAGGGGGATGGTGGGATTCAG GAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGGTGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(711): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATATTCCATATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATATTCCATATAT ATATATATTCCATATATATATATATATTCCATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATATTCCATATATATATATATTCCATATATATATATTCCATATATATA TATATTCCATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATTCCATATATATATAT TCCATATATATATATTCCATATATATATATTCCATATATATATATTCCAT ATATATATATTCCATATATATATATATTCCATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0097	1	324	0.0031	718	c.115 others(735): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATGGAATATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATGGAATATATATATATAT GGAATATATATATATGGAATATATATATATATGGAATATATATATATGGA ATATATATATATATGGAATATATATATATGGAATATATATATATATGGAA TATATATATATGGAATATATATATATATATGGAATATATATATATATGGA ATATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATATGGAATATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(711): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGG GAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAA GGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGAG GAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGG GGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGGG GAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGGG AGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA19066.hp1 NA18982.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	352	0.0057	718	c.12 others(729): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCTTCCCCTCCCCTCCC CTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCC CCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCC CCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTC TCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTC CCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCC TCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTC CTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTC CCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCC CTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCTTTC CCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGG others(711): Show GGGAGGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGA GGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGG TGAGGGCAGAGGAGGGGAGAGGGGGGGAGGAGGGAGGGGAGGGCAGAGGA GGGGAAGGGAGAGGGGAGAGGAGGGTGAGGAGGAGAGGAGAGGGGAGGGG GAAGGGGGACGGGGAGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGG GGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGA GGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGG AGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAG GGAGGGGGAGGGGAGGGGAAGGGGGAAGGGGAAGGGGGAGGGGGGAGGAG GGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAAG GGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGAG GAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGG GGGAAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGGAAGGGGGAAGGGG GAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGGG AGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	718	c.12 others(729): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCCTCTCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCC CCTTCCCCTTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCC CTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCT CCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCC CCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCT CCTCTGCCCTCCCCTCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCT CTCCTCCTCACCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCC TCCCTCCTCCCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCC TCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCTTTCC CCTTCCTTCCTCCCTCCCTCCCTCCCTCCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMYD3_chr1_245744347_246512279	246325270	G G	GGGGGGCG others(711): Show GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGC AGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTC GGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGA GAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAA GGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGG GCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGT CGGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGG AGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGA AGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGG GGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGA GTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGA GAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGGCGGGA AGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	150	0.0067	718	c.531 others(735): Show c.531+1930_531+1931insGCGACTCCTTCTCCCTCCTTCCCGCCCC CCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTT CCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCC CTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACT CCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCC CCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTC CCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCCGACTCCTTCT CCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACT CCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCC CCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTT CCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCCGACTCCTTC TCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGA CTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGC CCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCCGACTCCTTCTCCCTC CTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPIRE2_chr16_89823475_89876319	89852504	A A	ATGGCCCA others(711): Show ATGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCCCATGGCCCATCT TCCATCCTCCCTCCACCCCCCGGATCCCCTGGCCCATCTTCCATCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCC CGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCC CGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCAT CCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCC TCTCACCCCCCAGATCCCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0009 a0001c0008t0001g0009	1	356	0.0028	718	c.646 others(735): Show c.646-1763_646-1762insTCCCCACCCCCCAGATCCCATGGCCCAT CTTCCATCCTCCCTCCACCCCCCGGATCCCCTGGCCCATCTTCCATCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCC CCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCC ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCC CCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCC ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCC ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTC ATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTC CCTCTCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(711): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCGG ATCCCACGGCCCATCTTCCATCCTCCCTCCACCCCCCAGATCCCCTGGCC CGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGT CTTCTCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTC ACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGA TCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCC CGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGT CCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTC ACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGA TCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCC CGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGT CCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTC ACCCCCCAGATCCCATGGC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0020 a0001c0027t0001g0020	1	356	0.0028	718	c.646 others(735): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCA TCCTCCCCCCACCCCCCGGATCCCACGGCCCATCTTCCATCCTCCCTCCA CCCCCCAGATCCCCTGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGAT CCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCC GTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTC CTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCA CCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGAT CCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCC GTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTC CTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCA CCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGAT CCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCC GTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(711): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATACATATTATATATTATATATTATATACATATTATACATTATATATAT CTAAAATATATAATACACATTATATATTATATAATACACATTATATATAA TATATAATACACATTATATATTATATATAATACACATTATATATTATATA TAATACACATTATATATTATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATATAATACACAT TATATATTATATATAATACACATTATATATTATATAATACACATTATATA TTATATATAATACACATTATATATATAATACACATTATATATTATATATA ATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02135.hp2 NA18747.hp2 others(1): Show HG02080.hp1 HG02135.hp2 NA18747.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0221 others(1): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0221 a0001c0001t0001g0242	4	360	0.0111	718	c.62 others(729): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATA TATAATGTGTATTATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATATTATATATAATGTGT ATTATATAATATATAATGTGTATTATATATTTTAGATATATATAATGTAT AATATGTATATAATATATAATATATAATATGTATATAATATATAATATGT ATATAATATATAATATATAATATGTATATTATATATAATATATAATACAT ATAATATGTATATTATATATATAATATATAATATATAATACATATAATAT GTATATTATATATATAATATATAATATATAATACATATAATATGCATATT ATATATAATATATTATATAATGCATATAATAGGTATATTATATATAATGC ATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATA ATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATA TATAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TMEM120B_chr12_121707752_121787068	121747572	C C	CTGGGGTA others(711): Show CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0298 a0001c0001t0023g0298	1	314	0.0032	718	c.189 others(733): Show c.189-754_189-753insTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TRAPPC10_chr21_44007309_44111552	44088981	T T	TCCCTGGC others(711): Show TCCCTGGCACTGGCGGCACCTGTGCTATGTGCCGTGTTATCCCGCTCTTC CCTGGCACTGGCGGCACCTGTGCTGTGTGCCGTGTTATCCCACTCTTCCC TGGCACTGGCGGCACCTGTGCTGTGTGCCGTGTTATCCCACTCTTCCCTG GCGCTGGCGGCACCTGTGCTGTGTGCCGTGTTATCCCGCTCTTCCCTGGC GCTGGCGGCACCTGTGCTGTGTGCCGTGTTATCCCGCTCTTCCCTGGCGC TGGCGGCACCTGTGCTGTGTGCCGTGTTATCCCACTCTTCCCTGGCGCTG GCGGCACCTGTGCTGTGTGCTGTGTTATCCCACTCTTCCCTGGCACTGGC GGCACCTGTGCTGTGTGCCGTGTTATCCCGCTCTTCCCTGGCACTGGCGG CACCTGTGCTGTGTGCCGTGTTATCCCACTCTTCCCTGGCGCTGGCGGCA CCTGTGCTGTGTGCCGTGTTATCCCACTCTTCCCTGGCACTGGCGGCACC TGTGCTGTGTGCCGTGTTATCCCGCTCTTCCCTGGCACTGGCGGCACCTG TGCTGTGTGCCGTGTTATCCCGCTCTTCCCTGGCACTGGCGGCACCTGTG CTGTGTGCCGTGTTATCCCACTCTTCTCTGGCGCTGGCGGCACCTGTGCT GTGTGCCGTGTTATCCCGCTCTTCCCTGGCACTGGCGGCACCTGTGCTGT GTGCCGTGTTATCCCGCTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0239 a0002c0006t0001g0240 a0002c0006t0001g0239 a0002c0006t0001g0240	2	254	0.0079	718	c.277 others(735): Show c.2770-852_2770-851insCCCTGGCACTGGCGGCACCTGTGCTATG TGCCGTGTTATCCCGCTCTTCCCTGGCACTGGCGGCACCTGTGCTGTGTG CCGTGTTATCCCACTCTTCCCTGGCACTGGCGGCACCTGTGCTGTGTGCC GTGTTATCCCACTCTTCCCTGGCGCTGGCGGCACCTGTGCTGTGTGCCGT GTTATCCCGCTCTTCCCTGGCGCTGGCGGCACCTGTGCTGTGTGCCGTGT TATCCCGCTCTTCCCTGGCGCTGGCGGCACCTGTGCTGTGTGCCGTGTTA TCCCACTCTTCCCTGGCGCTGGCGGCACCTGTGCTGTGTGCTGTGTTATC CCACTCTTCCCTGGCACTGGCGGCACCTGTGCTGTGTGCCGTGTTATCCC GCTCTTCCCTGGCACTGGCGGCACCTGTGCTGTGTGCCGTGTTATCCCAC TCTTCCCTGGCGCTGGCGGCACCTGTGCTGTGTGCCGTGTTATCCCACTC TTCCCTGGCACTGGCGGCACCTGTGCTGTGTGCCGTGTTATCCCGCTCTT CCCTGGCACTGGCGGCACCTGTGCTGTGTGCCGTGTTATCCCGCTCTTCC CTGGCACTGGCGGCACCTGTGCTGTGTGCCGTGTTATCCCACTCTTCTCT GGCGCTGGCGGCACCTGTGCTGTGTGCCGTGTTATCCCGCTCTTCCCTGG CACTGGCGGCACCTGTGCTGTGTGCCGTGTTATCCCGCTC	TRAPPC10	ENSG00000160218.13	transcript	ENST00000291574.9	protein_coding	17/22			chr21	TogoVar
TWIST2_chr2_238843085_238915534	238870227	A A	ACCCCACA others(711): Show ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCTACACACACCACAC CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACACCCCACACACACCACACCC TACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCA CACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	338	0.0030	718	c.35 others(737): Show c.35+21495_*35+21496insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCTACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCTACACACACCACACCCCACACACACCAC ACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CATACACACCACACCCCACACACACCACACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCACACACACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870237	C C	CCCCATAC others(711): Show CCCCATACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCATACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACCCCATACACACCACACACCCCAC ACACACCACACACCACACCCCATACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCATACACACCACACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCATACACACCACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCATACACACCACACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	338	0.0030	718	c.35 others(737): Show c.35+21504_*35+21505insCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCATACACACC ACACCCCATACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC CCCATACACACCACACACCCCACACACACCACACACCACACCCCATACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCATACACAC CACACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCATACACACCACACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870330	A A	ACACCCTA others(711): Show ACACCCTACACACACCACACCCCACACACACCACACCCCATACACACCAC ACCCCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCCACACACACCACACCCCCACACCCACC ACACCCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCCACACACACCACACACCCCACACACACC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCTACACACACCACACCCCACACACACCA CACCCCATACCACACCACACCCCACACACACCACACACCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACCCCACACACACCACACCCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCACCCCACACACAC CACACCCCACACACACCAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	338	0.0030	718	c.35 others(737): Show c.35+21600_*35+21601insCCTACACACACCACACCCCACACACA CCACACCCCATACACACCACACCCCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCCACACAC ACCACACCCCCACACCCACCACACCCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCCACACACA CCACACACCCCACACACACCCACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACACCCCACACACACCACACCCTACACAC ACCACACCCCACACACACCACACCCCATACCACACCACACCCCACACACA CCACACACCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACCCCACACACACCACACCCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCACCCCACACACACCACACCCCACACACACCACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870458	C C	CATCACAC others(711): Show CATCACACACCACACACACCACACACACCCCACACACACCACACACACAC ATCACATACCACACACCCGACACACGCCACACACACACCATACACCCCCC ACACACCACACCCCACACACCATACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACACCCCACACACACCACACACCCCACACACACCACACAAACCACACACC CCACACACACCACACACACCACACACCCCACACACACCACACCCCATACA CACCACACCCCACACACACCACACACCCCACACACACCACACACCCCACA CACACCACACCCCACACACACCACACAAACCACACACCCTACACACCCCA CACACACCACACACCACACACACCCCACACACACCACACCCCACACACAC CACACACACCCCCCACACACACCACACCCCATACACACCACACCCCACAC ACACCACACCCCATACACACCACACACCCCACACACACCACACACCCCAC ACACACCACACCCCATACACACCACACCCCCCACACACCACACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCATACACACCACACACCCCACACACCACACACACACA TCACATACCACACACACAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	338	0.0030	718	c.35 others(737): Show c.35+21725_*35+21726insATCACACACCACACACACCACACACA CCCCACACACACCACACACACACATCACATACCACACACCCGACACACGC CACACACACACCATACACCCCCCACACACCACACCCCACACACCATACAC ACCACACACCCCACACACACCACACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACACCCCACACACACCACACACCCCAC ACACACCACACAAACCACACACCCCACACACACCACACACACCACACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACA AACCACACACCCTACACACCCCACACACACCACACACCACACACACCCCA CACACACCACACCCCACACACACCACACACACCCCCCACACACACCACAC CCCATACACACCACACCCCACACACACCACACCCCATACACACCACACAC CCCACACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCCCACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCCATACACACCACAC ACCCCACACACCACACACACACATCACATACCACACACACAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(711): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCC CTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCTCCCC TCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCC CTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCT CCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCT CCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTT CCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCTCTCCTCCGCTCCCCTC CCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCCCTCCTCCACTCCTC TCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCC TCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTT TCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0023 a0001c0012t0023	a0001c0012t0023g0150 a0001c0012t0023g0150	1	202	0.0050	718	c.53 others(729): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGG GAGAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGA GAGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGG AGCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGG AGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAG AGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAG AGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGG GGAAGGGAGGGGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGT GGAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGAGGAGAG AGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGAGGAGAGAGGAGG GGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGG GGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
VCX3B_chrX_8459830_8471510	8466638	A A	AGGGAGGG others(711): Show AGGGAGGGGAGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGAGAGGGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGGAGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGGTGGGGAGGG AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGGAGGGAGGGAGG AAGAGGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAG GGAGGAAGAGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0044 a0044	a0044c0047 a0044c0047	a0044c0047t0025 a0044c0047t0025	a0044c0047t0025g0031 a0044c0047t0025g0031	1	271	0.0037	718	c.25 others(727): Show c.255_*256insGGGAGGGGAGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGAGA GGGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GGAGGGAGGGAGGAAGAGGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		129		chrX	TogoVar
VPS53_chr17_503668_719839	646603	C C	CGGACTGG others(711): Show CGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTGTGGCCACTG CCTCCTAAGGGTCTTATCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTT TAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGGT CTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACA TCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAAT CCACACCACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGT GGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTG GAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTA AGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCAC ACACATCTCCGTGACCGCG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0051 a0001c0011t0051	a0001c0011t0051g0091 a0001c0011t0051g0091	1	232	0.0043	718	c.608 others(735): Show c.608+6687_608+6688insCGCGGTCACGGAGATGTGTGTGGGAGCC AGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCA GTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTG ATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCA CGGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAA GATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGG GAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA CACGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
ZNF627_chr19_11592483_11624161	11613137	C C	CCCCCCCC others(711): Show CCCCCCCCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCC CCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTC CTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCT TCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTT CCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCT GTCCCTCCCCTCTCCCCTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	322	0.0031	718	c.4-1 others(731): Show c.4-1385_4-1384insCCCTCCCCTCCCCCTTCCTCATCCCCTTCCCC CTCCCCTTCTTCCTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCC TCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTT CCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCC CTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCC TCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCC TCCCCCTCCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCC CTCCCCGTCCCCTCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTC CTCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCT CTCTTCCTCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCC TCTTCCCCTCTCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCC CTCCCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCC CCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTC CTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(711): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCT TCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCC TCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTC CCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCC CCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCC TCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCT CCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCC CCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCC TCCCCTCCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCT CCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCC CCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCC CCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCC TCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCC CCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	322	0.0031	718	c.4-1 others(731): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCC CTCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCT TCCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCC CCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCT CCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCT TCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCC TCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCC CTCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCT CCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTC TCCTCCCCTCCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTC CCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCAT CTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCA CCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(712): Show ATAAATGAGTGGGTGGGATGGATAAATGAGGGGGTGGGATGGATGGATAA ATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGG GTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATG CATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGATGGATAAATGAGT GGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGGGGGTGGGA TGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGA TAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAG TGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGG ATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGATGGATGGATAA ATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGGGTGG GTGGGATGGCTAAATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATG GCTAAATGGGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATG GGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTG GGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCT AAATGAGTGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0267 a0002c0003t0001g0267	1	357	0.0028	719	c.278 others(738): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTAGCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACCCATTTA TCCATCCCACCCACCCATTTATCCATCCCACCCACCCATTTAGCCATCCC ACCCACTCATTTATCCATCCCACCCACCCATTTAGCCATCCCACCCACCC ATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCC ATCCATCCCACCCATTTATCCATCCCACCCACCCATTTATCCATCCCACC CACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATT TATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATC CCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCAC CCCCTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCAT TTATCCATCCCACCTCATTTATGCATCCCACCCACTCATTTATGCATCCC ACCCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACCC ATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCC ATCCATCCCACCCCCTCATTTATCCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCG8_chr2_43833971_43887988	43862381	T T	TCTCTATA others(712): Show TCTCTATAGAACTCTCACTATCTGGATAGATTTCTCAACATTGGAATAGA ATTCTCACTAACTATTTGGATAGAATTGTCACTCTCTGGATAGAGTTCTG ACTATCTATCTGGATAGAATTCTCAGCATCTGGATAGAACTCTCACTATC TGGATAGAATTCTCACTCCCTGGTTAGAACTCTCACTATCTACCTTGATA GAATTCTCACCATCTGGATAGAACTATCACTATCTATCTGGATAGAATTC TCACTCTCTGGATGGAACTCTCACCACCTATCTGGATATAATTCTCAGTC TCTGGATAGGACTCACTATCTGGATAGGATTCTCACCATCTGGATAGAAT TCTCACTATCTATCTGGATAGAATTCGCACAATCTGTATAGAACTCTCCC TATCTGTCCGGATAGAATTCTCACCATCTGGATAGAACACTCACAATCTG GATAGAATTCTTAGAATTCTCACTCTCTAGATAGAACTCTCGCTATTTGT CTGGATAGAATTCTCACCATATGAGTAGAACTCTCACTAACTGCATGCAA TTCTTACTCTCTGGATGAAACTCTATCTTTCTGGATAGAACTTACTATCT GGAAAGAACTCTCACTATCTGGATAGAATTCTCACCGTCTGGATAGAATT CTCACTATCTGGATAGAATTCTCACTCTCTGGATAGAACTCTCACTATCT ATCTGGATAGGACTCTCACC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show HG01192.hp1 HG02895.hp2 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0023 a0003c0010t0123 a0003c0010t0023 a0003c0010t0123	a0003c0010t0023g0036 a0003c0010t0023g0037 a0003c0010t0023g0039 others(1): Show a0003c0010t0023g0036 a0003c0010t0023g0037 a0003c0010t0023g0039 a0003c0010t0123g0038	4	318	0.0126	719	c.964 others(736): Show c.964+9517_964+9518insATAGAACTCTCACTATCTGGATAGATTT CTCAACATTGGAATAGAATTCTCACTAACTATTTGGATAGAATTGTCACT CTCTGGATAGAGTTCTGACTATCTATCTGGATAGAATTCTCAGCATCTGG ATAGAACTCTCACTATCTGGATAGAATTCTCACTCCCTGGTTAGAACTCT CACTATCTACCTTGATAGAATTCTCACCATCTGGATAGAACTATCACTAT CTATCTGGATAGAATTCTCACTCTCTGGATGGAACTCTCACCACCTATCT GGATATAATTCTCAGTCTCTGGATAGGACTCACTATCTGGATAGGATTCT CACCATCTGGATAGAATTCTCACTATCTATCTGGATAGAATTCGCACAAT CTGTATAGAACTCTCCCTATCTGTCCGGATAGAATTCTCACCATCTGGAT AGAACACTCACAATCTGGATAGAATTCTTAGAATTCTCACTCTCTAGATA GAACTCTCGCTATTTGTCTGGATAGAATTCTCACCATATGAGTAGAACTC TCACTAACTGCATGCAATTCTTACTCTCTGGATGAAACTCTATCTTTCTG GATAGAACTTACTATCTGGAAAGAACTCTCACTATCTGGATAGAATTCTC ACCGTCTGGATAGAATTCTCACTATCTGGATAGAATTCTCACTCTCTGGA TAGAACTCTCACTATCTATCTGGATAGGACTCTCACCCTCT	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGMO_chr7_15195317_15567015	15529657	T T	TATATATA others(712): Show TATATATAGAATATATATAGTATATATATTCTATATATAGAATATATATA CTATATATATTCTATATATAGAATATATATACTATATATATTCTATATAT AGAATACATATAGTATATATATTCTATATATAGAATATATATAGAATATA TATACTATATTAATTCTATATATAGAATATATATAGAATATATATAGTAT ATATATTCTATATATAGAATATATATATAGAATATATATTCTATATATAT ATAGAATATATATAGAATATATATTCTATATATATAGAATATATATTCTA TATATAGAGAATATATATAGAATATATATTCTATATATATATAGAATATA TATTCTATATATATATAGAATATATATAGAATATATATTCTATATATATA TAGAATATATATAGTATATATATTCTATATATATTCTATATATATATAGA ATATATATACTATATATATTCTATATATATTCTATATATAGAATATATAT TCTATATATATTCTATATATAGAATATATATACTATATATATTCTATATA TAGAATATATATACTATATATATTCTATATATAGAATATATATACTATAT ATATTCTATATATATTCTATATATAGAATATATATAGTATATATATTCTA TATATAGAATATATATAGTATATATATTCTATATATATTCTATATATAGA ATATATATTCTATATATAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0180 a0014c0014t0001g0180	1	236	0.0042	719	c.409 others(738): Show c.409+15114_409+15115insTCTATATATAGAATATATATTCTATA TATAGAATATATATAGAATATATATACTATATATATTCTATATATAGAAT ATATATACTATATATATTCTATATATAGAATATATATAGAATATATATAG TATATATATTCTATATATAGAATATATATAGTATATATATTCTATATATA GAATATATATAGTATATATATTCTATATATAGAATATATATAGAATATAT ATTCTATATATAGAATATATATAGAATATATATAGTATATATATTCTATA TATATATAGAATATATATAGAATATATATACTATATATATTCTATATATA TATAGAATATATATTCTATATATATTCTATATATATATAGAATATATATT CTATATATATATAGAATATATATTCTATATATATTCTCTATATATAGAAT ATATATTCTATATATATAGAATATATATTCTATATATATTCTATATATAT ATAGAATATATATTCTATATATATATTCTATATATAGAATATATATACTA TATATATTCTATATATATTCTATATATAGAATTAATATAGTATATATATT CTATATATATTCTATATATAGAATATATATACTATATGTATTCTATATAT AGAATATATATAGTATATATATTCTATATATAGAATATATATAGTATATA TATTCTATATATAGAATATATATACTATATATATTCTATATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	318239	A A	AACCCTGC others(712): Show AACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCC CCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACC TCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTC CATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCC TTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCT CCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTC CCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACC TCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTG CACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCA TCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCC AATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCC CCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTT TACCTCCCCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTT CACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTC CCCCTGCACCTCCCGCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	268	0.0037	719	c.-35 others(730): Show c.-3591_-3590insACCCTGCACCTCCCCCAATCCTTCACCTCCCCCC TCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCC CCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTA CCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTT CACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTC CCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCAC CTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACC CTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAA CCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCC TCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCA CCTCTCCCCATCTTTTACCTCCCCCCACCCTGCATCTCCCCCAACCCTGC ACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCACC CTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3474		chr5	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(712): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAG GGGAAAAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAG GGGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAA GGGAAGGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAG GAAAAGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGA AGGGAAAGGGAAGGGAAGGGAAAGGGAAGGGAATGGGAAGGGAAGGGGAA GGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTA AGGGAAAGGAGAGGGAAGGAAAGGGAGGGGAAGGAAGGGGAAGGGGGAGG AAAAGGATGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGG AAAGAAGGAAGGAAAAGGGAGAGAGGGAGGGAGGAGGAGGAAGGAGGGTG GAAGGAAGGAGAAAAAAAGAGAGGGAGGGGAAGAGAGGGGAGGGGAGGGA AGAGAAGAAAAGGGAAGGGAGAGGAAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0061 a0001c0003t0015g0061	1	242	0.0041	719	c.927 others(736): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTCTCCCTTCCCTTTTCTTCTCTTCCCTCCC CTCCCCTCTCTTCCCCTCCCTCTCTTTTTTTCTCCTTCCTTCCACCCTCC TTCCTCCTCCTCCCTCCCTCTCTCCCTTTTCCTTCCTTCTTTCCCTTTGC TACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCATCCTTTTCCTCCCCC TTCCCCTTCCTTCCCCTCCCTTTCCTTCCCTCTCCTTTCCCTTACTTTTC CCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTTCCCTTCCCCTTCCCCTT CCCTTCCCATTCCCTTCCCTTTCCCTTCCCTTCCCTTTCCCTTCCCCTTC CTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCTTCCTTTTCCTTCCCCT TCCTTTTCCCATTCCCTTCCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTT CCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTT TCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTT CCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCCTTCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251798	G G	GGAAGGGA others(712): Show GGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGTGAAAGGGAAGG GAAGGGGAAGGAGGGTAAGGGAAGGAAAGGGAAGGGAAAGGGAAGGGAAG GGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAAGGAAGGAAAGGG GAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAAGGGAAGGG GAGGGAAGGGGAAGGGAAGGGGAAAAAGGAAGGGAAGGGAAGGAAGGGAA GGGAATGGGAAAAGGAAGGGGTATGGGAAAAGGAAGGGAAGGGAAGGGGA AGGGAAGGGAAGAAAGGAAGGGGGAAGGGAAAGGGAAGGGAAGGGAAAGG GAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAAGGGGAAGGGGAAGGGAAG GGAAGGGGAAGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGG GAAGGAAAGGAGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGAAG GGAAGGGGAGGGGGAAGTGAGGGGTAGCAAAGGGAAAGTAAGGAAGGGAA GGGAAGAGAGGGAGGGAGGGTGGGAGGAAGGAAGGACGGATGGACGGACA GGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGAAGAGA AGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGG GGAGGGAGAGAGGGAAAGAA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	242	0.0041	719	c.927 others(736): Show c.927+4519_927+4520insTTCTTTCCCTCTCTCCCTCCCCTCCCTC CCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCC CTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTC CATCCGTCCTTCCTTCCTCCCACCCTCCCTCCCTCTCTTCCCTTCCCTTC CTTACTTTCCCTTTGCTACCCCTCACTTCCCCCTCCCCTTCCCTTCCCCT TCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCTCCTTTCCTTCCCTCTCCT TTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCTTCCCCTTCCCTTCCCTT CCCCTTCCCCTTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCC TTCCCTTCCCTTTCCCTTCCCCCTTCCTTTCTTCCCTTCCCTTCCCCTTC CCTTCCCTTCCTTTTCCCATACCCCTTCCTTTTCCCATTCCCTTCCCTTC CTTCCCTTCCCTTCCTTTTTCCCCTTCCCTTCCCCTTCCCTCCCCTTCCC TTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTTCC TTCCTTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTCCCTT CCCTTTCCCTTCCCTTTCCTTCCCTTACCCTCCTTCCCCTTCCCTTCCCT TTCACCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTC	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
C20orf96_chr20_265863_295750	279046	G G	GGGAGGGC others(712): Show GGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGG GAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGA GGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGG GACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGA CGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACG GAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGA CGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACG GAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGA GGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACG GCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGA GGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGCGGGACGGA GGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACG GAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAG GGAGGGAGGGAGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0229 a0002c0007t0001g0229	1	410	0.0024	719	c.465 others(734): Show c.465+125_465+126insGTCCCTCCCTCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCC TCCCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTC CGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCC TCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCG TCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTC CCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCC TCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCC TCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCG TCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(712): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGGAGGGCGGGACGGAGGGACGGAGG GAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGA GGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACG GAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGA CGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACG GAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGA GGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACG GCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGA GGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGG GAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGA CGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGG AGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGG GAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGA GGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0191 a0002c0006t0001g0191	1	410	0.0024	719	c.465 others(734): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTC CGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCC TCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCG TCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTC CCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCC TCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCC TCCGTCCCGCCCTCCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C4orf50_chr4_5954375_6023431	6004390	G G	GTGATGAT others(712): Show GTGATGATGTGATGGTGATGTTGATGATGGTGGTGATGGTGATGATGTGA TGGCGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGG TGATGATGTGATAGTGATGATGGTGATGATGCTGATGGTGATGATGGTGA TAGTGATGATGGTGATGGTGATGATGGTGATGATGGTGATGATGGTGATG GTGATTATGGTGATGATGGGATGGTGATGTTGATGATGGTGGTGATGGTG ATGATGTGATGGCGATGATAGTGATGATGGTGATGATGGTGATGGTGATG ATGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGGTGATGATAGTGATGATGGTGATGGTGAT GATGGTGATGGTGATGATGGTGATGATGGTGATGATGGTGACGGTGATGA TGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGATGTTGATGATGGTGATGATGGTGATGGTGATGATGGTG ATGATGTGATGGTGATGATGTTGATGATGGTGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGT GATGGTGATGATAGTGATGATGATGGTGATGGTGATGATGGTGATGGTGA TGATGTGATGGTGATGATGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02622.hp1 others(1): Show HG02258.hp1 HG02451.hp2 HG02622.hp1 NA19240.hp1	a0033 a0074 a0105 a0033 a0074 a0105	a0033c0035 a0074c0083 a0105c0117 a0033c0035 a0074c0083 a0105c0117	a0033c0035t0000 a0074c0083t0000 a0105c0117t0000 a0033c0035t0000 a0074c0083t0000 a0105c0117t0000	a0033c0035t0000g0228 a0033c0035t0000g0236 a0074c0083t0000g0237 others(1): Show a0033c0035t0000g0228 a0033c0035t0000g0236 a0074c0083t0000g0237 a0105c0117t0000g0018	4	346	0.0116	719	c.963 others(736): Show c.963+3605_963+3606insTCATCATCACCATCACATCATCACCATC ACCATCATCACCATCACCATCATCATCACTATCATCACCATCACCATCAT CACCATCATCACCATCATCAACATCATCACCATCATCACCATCACCATCA TCACCATCACCACCATCATCAACATCATCACCATCACATCATCACCATCA TCACCATCACCATCATCACCATCATCAACATCATCACCATCATCACCATC ACCATCATCACCATCACCATCATCACCATCATCACCATCACATCATCACC GTCACCATCATCACCATCATCACCATCATCACCATCACCATCATCACCAT CACCATCATCACTATCATCACCATCACCATCACCATCATCACCATCACCA TCATCACCATCATCACCATCATCACTATCATCACCATCACATCATCACCA TCACCATCATCACCATCATCACTATCATCGCCATCACATCATCACCATCA CCACCATCATCAACATCACCATCCCATCATCACCATAATCACCATCACCA TCATCACCATCATCACCATCATCACCATCACCATCATCACTATCACCATC ATCACCATCAGCATCATCACCATCATCACTATCACATCATCACCATCACA TCATCACCATCACCATCATCACCATCATCACTATCATCGCCATCACATCA TCACCATCACCACCATCATCAACATCACCATCACATCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C7orf50_chr7_992006_1143247	1070371	C C	CACCTGGC others(712): Show CACCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCG CCCGGCCAGCCGCCCCATCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGG GAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGG GAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCATCTGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGTCAGCCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCATCCCGTCCG GGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCG GGAGGGAGGTCAGCCCCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp2 HG02280.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0118 a0001c0001t0010g0119 a0001c0001t0007g0118 a0001c0001t0010g0119	2	326	0.0061	719	c.129 others(738): Show c.129+56885_129+56886insAGGGGGGCTGACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACG GGATGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCAACCTCCCTCCCGGACGGGGCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGTGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGA TGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC AGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGAC GGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CDH23_chr10_71391920_71820947	71688976	G G	GGTGGTGG others(712): Show GGTGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCG TGGACCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAG TCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGGAGCCAGG GGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGG TGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGGAG CCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGG GATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGG TGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAG TCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGG GATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGG TGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACAGTGGTGGAG TCAGGGGTGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAG TGCCGTGGACCCAGGGATGGTGGAGCCAGCGGTGGTGGAGTCAGGGATGG TGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAG CCAGGGGTGGTGGAGCCAAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp1 HG02809.hp1 others(5): Show HG02257.hp2 HG02647.hp1 HG02809.hp1 HG02897.hp2 HG02922.hp1 HG03139.hp2 NA19043.hp2 NA21309.hp1	a0022 a0049 a0050 others(5): Show a0022 a0049 a0050 a0058 a0085 a0089 a0092 a0105	a0022c0020 a0049c0163 a0050c0156 others(5): Show a0022c0020 a0049c0163 a0050c0156 a0058c0162 a0085c0103 a0089c0099 a0092c0101 a0105c0133	a0022c0020t0028 a0049c0163t0018 a0050c0156t0008 others(5): Show a0022c0020t0028 a0049c0163t0018 a0050c0156t0008 a0058c0162t0008 a0085c0103t0001 a0089c0099t0001 a0092c0101t0001 a0105c0133t0007	a0022c0020t0028g0184 a0049c0163t0018g0011 a0050c0156t0008g0031 others(5): Show a0022c0020t0028g0184 a0049c0163t0018g0011 a0050c0156t0008g0031 a0058c0162t0008g0020 a0085c0103t0001g0190 a0089c0099t0001g0138 a0092c0101t0001g0195 a0105c0133t0007g0189	8	196	0.0408	719	c.205 others(738): Show c.2059+1258_2059+1259insTGGTGGAGCCAGGGGTAGAGGAGTCA GGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCAGGGGT GGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGG AGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCA ACGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGT GGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGG AGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCA GGGGTGGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGT GGTGGAGCCAGGGATGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGG AGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCA GGGGTGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGT GGTGGAGCCAACAGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTAGAGG AGTCAGGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCA GCGGTGGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGAT GGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHRNA4_chr20_63338223_63366349	63361434	A A	AGGGGGGA others(712): Show AGGGGGGAGGAGGGGGAGCAGGGGGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAG GAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGA GGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGGGAGC AGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGG GGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGG AGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCAGGGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGG GAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGGAGGGGGAGCAGGGGA GGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGACGG GGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCAGGGGAGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGG AGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGA AGAGGAGGGGGGAGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	168	0.0060	719	c.-27 others(728): Show c.-270_-269insCTCCTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTG CTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTC CCCCTCCTCCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCC CCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCGTCCCCTGCTCTCC CTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTC CTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCC CTCCTCCCCCCTCCCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCC TCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCC CCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCC CCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCC CAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCA GCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGC TCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCCC CCTCCTCCCCCCCCTGCTCCCCCTCCTCCCCCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		86		chr20	TogoVar

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Search Results (Total: 8931 hits)