Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

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
SYNDIG1_chr20_24464629_24671616	24530039	A A	AATACCCC others(848): Show AATACCCCTGGTGATGGTTTCAGTGGTGGAGATGATGACAGTGATGGTGG TGGTGATGGTAGTACTCCCGGTGGTGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGT GATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGG TGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGACAGTAGTACTCCCAGTGATGGTGTCATGGTGGAGATGGTG ATGGTGGTGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGACAGTAGTACTCCCAGTGATGGTGTCATGGTGGA GATGGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTGTCAGTGG TGGGGATGGTGATGGTGGTGGTGACGGTAGTACTCCTGGTGATGGTGTCA GTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTATTCCCAGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGA TGGTGATGGTGGTATTCCCAGTGATAGTGTCAGTGGTGGGGATGGTGATG GTGGTGGCGATGGTGGTATTCCTGGTGATGGTGTCAGTGGTGGGGAGAGT GGTGGTGATGATGGTAGTACCCCTGGTGGTGGTGATTATGAAAATGGCTA TGTCAGTGATGCTGATTGTGATGGTGACTGAAGTTCTGGAGGTGATGGGG TAATGAAGGTAGTGATGGCTATGGTGGTGATGGTGGAGATAATGGAGATG GTGGTC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19010.hp2 NA19088.hp2 NA18947.hp1 NA19010.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0012g0112 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0012g0112	3	270	0.0111	855	c.-78 others(874): Show c.-78-12979_-78-12978insACCCCTGGTGATGGTTTCAGTGGTGG AGATGATGACAGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGGTGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGATGGTGATGGTAGTATTCCCGGTGATGGTGTCAG TGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTATTCCCGGTGATGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGACAGTAGTACTCCCAGTGAT GGTGTCATGGTGGAGATGGTGATGGTGGTGGTGATGGTAGTATTCCCGGT GATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGACAGTAGTACTCC CAGTGATGGTGTCATGGTGGAGATGGTGATGGTGGTGGTGATGGTAGTAC TCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGACGGTA GTACTCCTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGAT GGTAGTATTCCCAGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTATTCCCAGTGATAGTG TCAGTGGTGGGGATGGTGATGGTGGTGGCGATGGTGGTATTCCTGGTGAT GGTGTCAGTGGTGGGGAGAGTGGTGGTGATGATGGTAGTACCCCTGGTGG TGGTGATTATGAAAATGGCTATGTCAGTGATGCTGATTGTGATGGTGACT GAAGTTCTGGAGGTGATGGGGTAATGAAGGTAGTGATGGCTATGGTGGTG ATGGTGGAGATAATGGAGATGGTGGTCAT	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
TAFA5_chr22_48484553_48756932	48620629	C C	CCCATCCT others(848): Show CCCATCCTATCCACCCACCCACCATCCACCATCCTATCCACCCACCCACC ATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCA TACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCTACCCC CCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCA CCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTA TCCACCCACCCACCATCCACCATCCTATCCACCCACCCACCATCCACCAT CCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCC TATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACCCACCAT CCCCCATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCC CCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCA CCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTA TCCACCCACCCACCATCCACCATCCTATCCACCCACCCACCATCCACCAT CCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCC TATCCACCCACCCACCATCCCCCATCGTATCCACCCACCCACCATCCCCC ATCCTATCTACCCCCCCACCATCTCCCATCCTATCTACCCCCCCACCATC CCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCACCCAC CATCCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0045 a0001c0001t0009g0045	1	258	0.0039	855	c.113 others(874): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCCCCATCCTATCTACCCCCCCACCATCC CCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCACCCACC ATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACC CACCATCCACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCA CCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCC CCCACCATCTCCCATCCTATCCACCCCCCCCACCCACCATCCCCCATCCT ATCCACCCACCCACCCACCATCCACCATCCTATCCACCCCCCCACCATCC CCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCACCCACC ATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACC CACCATCCACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCA CCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCA CCCACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTA CCCCCCCACCATCTCCCATCCTATCTACCCCCCCACCATCCCCCATCCTA TCTACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCAT CCTATCCACCCACCCACCATCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1629112	A A	AGGCGGGA others(848): Show AGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAC CAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGATGCGGGAAGGGGA CAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGGG GGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGGTGAGGCGGGAAGGG GACAGTAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGTAGAG CTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGGGGCGGGAAGGGGAC AGAAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGG GTGGAGCGTGAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGG ACAGAAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGG GGGTGGAGCGTGAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGG GGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCAC GGGTGG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0119 a0003c0006t0001g0119	1	352	0.0028	855	c.299 others(872): Show c.299-1687_299-1686insCCACCCGTGAGCTCTGCTGTCCCCTTCC CGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGA GCTCTGCTGTCCCCTTCACGCTCCACCCCCTGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCGTGAGCTCTTCTGTCCCCTTCCCGCCCCATCCCCAT GAGCTCTGCTGTCCCCTTCACGCTCCACCCCCTGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCGTGAGCTCTTCTGTCCCCTTCCCGCCCCATCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGTTCTGCTGTCC CCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTAC TGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTACTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTG AGCTCTACTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGTCCCC TTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCC CTTCCCGCCTCACCCCCTGTGAGCTCTGGTGTCCCCTTCCCACCTCACCC CGTGAGTTCTGCTGTCCCTTTCCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TNFRSF18_chr1_1198508_1211592	1201778	G G	GCCAGTAC others(848): Show GCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAG CCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAG TACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCC AGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCC AGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCC AGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCT CCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTAC CCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGC CCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGC CTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGT ACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCA GCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCA GTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCTC CAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTACC CAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCC TCCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	855	c.20 others(866): Show c.2065_*2066insGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTA CTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGG CTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGG CTGGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTGGGGGCTGGG TACTGGGCTCGGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTCGG GGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTGGGGGCTGGGTACTG GGCTCGGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTGGAGGCTG GGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTC GGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTAC TGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGC TGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGC TCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGT ACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAG GCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGG GCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGG GTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGG AGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACT GGGCTCGGGGCTGGGTACTGG	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1729		chr1	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGGTTAG others(848): Show GGGGTTAGGGAGGCAGGGATTATGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCAGGGGTTAGGGAGGCAGGGATTATGGAGGCTGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAG GAAGGCCGGGGTAGGGAGGCTGGGGGTTAGGAAGGCTGGGGTTAGGGAGA CCAGGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGC CAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCCAGGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCA GGGATTATGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTCAGGGAGG CCAGGGGTTAGGGAGGCCGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCAGGGGTCAGGGAGGCCAGGGGTCAGGGAGGCCGGGGTTAGGG AGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	466	0.0022	855	c.47 others(866): Show c.4712_*4713insTGGCCTCCCTAACCCCGGCCTCCCTGACCCCTGG CCTCCCTGACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTC CCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAA CCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCCTGGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCC TCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCATAATCCCTGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGC CTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTC CCTGACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTA ACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCCCTGACC CTTGGTCTCCCTAACCCCCTGGTCTCCCTAACCCCAGCCTTCCTAACCCC CAGCCTCCCTACCCCGGCCTTCCTAACCCCGGCCTCCCTAACCCCTGGCC TCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCATAATCCCTGCCTCCCT AACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCA TAATCCCTGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
UCN3_chr10_5359966_5379692	5370259	A A	ATGTGTGT others(848): Show ATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTAT GTGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGC GTGTGTATGCGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGCGT GTGTGTGTATGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGTGT GTATGTGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTATGTGTGTAT GTGTGTGTATATGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTGTGT ATGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTGTGTATATGTGTGT GTACGTGTGTGTGTGTATGTGTGTATGTGTGTATGTGTGTGTATGTGTGT ATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGT ATGTGTGTGTATGTGTGTGTGTGTATATGCGTGTGTATGCGTGTGTGTAT ATGCGTGTGTATATATGCGTGTGTGTATGCGTGTGTATGTGTGTGTATGT GTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTATGGGTGTGTAT ATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGTGTATATGT GTGTATGTGTGTATATGTGTGTGTATATGCGTGTGTATGTGCGTGTGTAT GTGCGTGTGTATGTGCGTGTGTATGTGTGTGTATGTGTGTGTATATGATG TGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTGTGTGTA TGCGTGTGTATATGTGTGTGTATATGTGTGTGTGCGTGTGTGTGCGCGTG TGTGCG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0155 a0001c0002t0002g0155	1	468	0.0021	855	c.-6- others(870): Show c.-6-3454_-6-3453insTGTGTATGTGTGTGTATGTGTGTGTATGTG TGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGCGTGTGTA TGCGTGTGTGTATATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTATG CGTGTGGGTATATGCGTGTGTGTGTATGCGTGTGTGTATATGTGTGTATG TGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATCTGTGTG TGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTATGTGTGTGTGTATC TGTGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTATA TGTGTGTATATGTGTGTGTACGTGTGTGTGTGTATGTGTGTATGTGTGTA TGTGTGTGTATGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATGTG TGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTATATGCGTG TGTATGCGTGTGTGTATATGCGTGTGTATATATGCGTGTGTGTATGCGTG TGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCG TGTGTATGGGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTGTA TATGTGTGTGTATATGTGTGTATGTGTGTATATGTGTGTGTATATGCGTG TGTATGTGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATGTGTGTGTA TGTGTGTGTATATGATGTGTGTGTATATGCGTGTGTATATGCGTGTGTAT ATGCGTGTGTGTGTGTATGCGTGTGTATATGTGTGTGTATATGTGTGTGT GCGTGTGTGTGCGCGTGTGTGCGTG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR81_chr17_1719704_1743585	1739952	C C	CAGGGAGT others(848): Show CAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGA GGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAATGAGGAGCAGGAC AGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGG CGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCTGGACAGTGAGGATGGGAAGGAGCCTGATGCAGGGAGTGAGGAGC AGGACAGTGAGGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGA GGGTGGGAGGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGG CGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0003 a0003c0011t0003	a0003c0011t0003g0002 a0003c0011t0003g0002	1	431	0.0023	855	c.22 others(866): Show c.2267_*2268insAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATG CAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AATGAGGAGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGA GGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGC AGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGAC AGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGAGCTGGACAGTGAGGATGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCCGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCAGGACAGTGAGGGTGGGAGGGGGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGAC AGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGA GGGTGGGAAGGAGCCTGATGT	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1368		chr17	TogoVar
WDR81_chr17_1719704_1743585	1739952	C C	CAGGGAGT others(848): Show CAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGA GGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAATGAGGAGCAGGAC AGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGG CGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGAGCTGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCTGGACAGTGAGGATGGGAAGGAGCCTGATGCAGGGAGTGAGGAGC AGGACAGTGAGGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGA GGGTGGGAGGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGG CGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG02896.hp1 others(1): Show HG01243.hp2 HG02257.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0013 a0001c0016t0003g0013	4	431	0.0093	855	c.22 others(866): Show c.2267_*2268insAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATG CAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AATGAGGAGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGA GGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGC AGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGAC AGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCTGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGAGCTGGACAGTGAGGATGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCCGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCAGGACAGTGAGGGTGGGAGGGGGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGAC AGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGA GGGTGGGAAGGAGCCTGATGT	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1368		chr17	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(849): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGC CCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCC AACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCACCCCCCGCC CCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCA CCTCAGCCCACCCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCA GTCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCAC CCAACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCACCCCCCC CATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCAC CTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGT CCACTCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCA CCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCC CCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATC ACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCA GTCCACT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp1 HG03669.hp2 HG01361.hp2 HG01496.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0084 a0001c0001t0008 a0001c0001t0084	a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0084g0330 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0084g0330	3	337	0.0089	856	c.61+ others(871): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGGTGGGCTGAGGTGATGTG TTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGG GGTGGACTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGG TGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGT GTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGG TGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGAT GTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGG GGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGA CTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGG TGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGT GTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGT GTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGT GGGGGGTGGACTGAGGTGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS17_chr15_99966437_100346975	100011336	G G	GGGAAGGA others(849): Show GGGAAGGAAAGGAGAGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GTGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGA GGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGG AAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAG GGAGAGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGA GGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGG AAGGAAAGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGAGG GATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAA GGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGG AGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGG GATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAA GGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGG AGGGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0055 a0002c0001t0055	a0002c0001t0055g0087 a0002c0001t0055g0087	1	228	0.0044	856	c.259 others(877): Show c.2592-13748_2592-13747insTCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTC CCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCC CTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTC CCTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCAT CCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC TCCCTCCCATCCCTCCTTTCCTTCCCTCTCTCCCTCCCATCCCTCCTTTC CTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCAT CCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCCT CCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCC TTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATC CCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCT CCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCT CTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTT CCTTCCCTCCCTCCCATCTCTCCTTTCCTTCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
AZU1_chr19_822837_837018	835489	G G	GCCCCCAC others(849): Show GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	391	0.0026	856	c.36 others(867): Show c.3612_*3613insCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC TCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3472		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(849): Show TGGCGGGTGAGTAGACGGCGTGCATAGGGCCGGGGGCGGGGTACGTGGGG GGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGCATGTGTAGGGTCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0092 a0001c0092	a0001c0092t0009 a0001c0092t0009	a0001c0092t0009g0306 a0001c0092t0009g0306	1	338	0.0030	856	c.300 others(873): Show c.300-9378_300-9377insCGTGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGCATGTGTAGGGTCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(849): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGG GGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCC AGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCC GGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGCGCTGACCCCCCGACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02886.hp2 HG02630.hp2 HG02809.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0054 a0001c0001t0057 a0001c0001t0028 a0001c0001t0054 a0001c0001t0057	a0001c0001t0028g0210 a0001c0001t0054g0211 a0001c0001t0057g0288 a0001c0001t0028g0210 a0001c0001t0054g0211 a0001c0001t0057g0288	3	322	0.0093	856	c.165 others(873): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCT CCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCGAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(849): Show CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTC CTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTG GGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCC CAGACGGGGCGGCTGGCCTGGCGGAGGGCTGACCCCCGCACCTCCCTCCC GGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGAGGCGGCTGGCCGGGCGG GGCGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19043.hp2 HG03486.hp1 NA19043.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0032 a0003c0004t0061 a0003c0004t0032 a0003c0004t0061	a0003c0004t0032g0312 a0003c0004t0061g0311 a0003c0004t0032g0312 a0003c0004t0061g0311	2	322	0.0062	856	c.165 others(873): Show c.165+2194_165+2195insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCAGAGGGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CGTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCC GCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCG GCTGGCCGGGCGTGGGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCAACTCCCAGACGGGGCGGCTGGCCTGGCGGAGGGCTGACCCC CGCACCTCCCTCCCGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGAGGC GGCTGGCCGGGCGGGGCGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTGACCCCCCC	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(849): Show CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTG GGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCC CAGACGGGGCGGCTGGCCTGGCGGAGGGCTGACCCCCGCACCTCCCTCCC GGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGCGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0032 a0006c0010t0032	a0006c0010t0032g0313 a0006c0010t0032g0313	1	322	0.0031	856	c.165 others(873): Show c.165+2194_165+2195insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CGTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCC GCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCG GCTGGCCGGGCGTGGGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCAACTCCCAGACGGGGCGGCTGGCCTGGCGGAGGGCTGACCCC CGCACCTCCCTCCCGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCGGGCGGGGCGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTGACCCCCCC	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(849): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	448	0.0022	856	c.51+ others(871): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTAGTATACATACTACATGATATACATAGTATGTAG TATACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287152	T T	TACAATGT others(849): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	448	0.0022	856	c.51+ others(871): Show c.51+2209_51+2210insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTAGTATACATACTACAT GATATACATAGTATGTAGTATACATACTACATGATATACATAGTATGTAG TATACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CYSLTR1_chrX_78266468_78332611	78269606	A A	AATACAGA others(849): Show AATACAGAACATATATTATATATAATATATATAAATACAGAATATATATT ATATATAATATATAAATATAGAATATATATTATATATAAATATAGAATAT ATATTATATATAATATTAAATATAGAATATATATTATATATTATATATAA ATATAGAATATATATTATATTATATATAAATATAGAATATATATTATATA TGATATATATAAATATAGAATATATATTATATATTATATATAATATATAT TATATATAATATAGAATATAGAATATATATTATATATTATATATAATATA TATTATATATAATATAGAATATAGAATATATATTATATATAATATAGAAT ATAGAATATATATTATATATAATATAGAATATAGAATATATATTATATAT AATATAGAATATAGAATATATATTATGTATATATAATATAGAATGTATAT TCTATATTATATATAATATAGAATATATAATATATTTATATATAATATAG AATATATAACATATTATATATAAATATAATATATATTCTATATTTAATAG AATATATAATATACATTCTATATTTATCTAGAATATATAATATATTCTAT ATAAATATGGAATATATATTATATATTCTATATTTATATAGAATATATAA TATATTCTATATAATATATATTCTATATATATATAGAATATATTCTATAT ATATATAGAATATATATTATATATATAGAAAATATATTATATATTCTATA TTTATATATAATATATATATTATATTCTATATTTATATAGAATATAAATA TATAATATATAATATTTGTATATGTACTATATATTATATAATATATATAA TACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	240	0.0042	856	c.31 others(867): Show c.3126_*3127insATATGTATTATATATATTATATAATATATAGTAC ATATACAAATATTATATATTATATATTTATATTCTATATAAATATAGAAT ATAATATATATATTATATATAAATATAGAATATATAATATATTTTCTATA TATATAATATATATTCTATATATATATAGAATATATTCTATATATATATA GAATATATATTATATAGAATATATTATATATTCTATATAAATATAGAATA TATAATATATATTCCATATTTATATAGAATATATTATATATTCTAGATAA ATATAGAATGTATATTATATATTCTATTAAATATAGAATATATATTATAT TTATATATAATATGTTATATATTCTATATTATATATAAATATATTATATA TTCTATATTATATATAATATAGAATATACATTCTATATTATATATACATA ATATATATTCTATATTCTATATTATATATAATATATATTCTATATTCTAT ATTATATATAATATATATTCTATATTCTATATTATATATAATATATATTC TATATTCTATATTATATATAATATATATTATATATAATATATAATATATA TTCTATATTCTATATTATATATAATATATATTATATATAATATATAATAT ATATTCTATATTTATATATATCATATATAATATATATTCTATATTTATAT ATAATATAATATATATTCTATATTTATATATAATATATAATATATATTCT ATATTTAATATTATATATAATATATATTCTATATTTATATATAATATATA TTCTATATTTATATATTATATATAATATATATTCTGTATTTATATATATT ATATATAATATATGTTCTGTAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		1861		chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(849): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGGAGTGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGG GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGGAGGGGAGGGGGGGAGGGGGAGGGGGGAGGGGA GGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGGAGGGGAAGGGGA AGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAG GGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0166 a0002c0002t0020g0166	1	216	0.0046	856	c.923 others(875): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCC TCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCC CCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTC CCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCACTCCCCC TCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTT CATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DNM2_chr19_10713079_10836903	10758403	T T	TTCCTTCC others(849): Show TTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC TTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCC CTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCC TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCC CTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTT CCTTCCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	278	0.0036	856	c.162 others(873): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCC TTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCC TTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPEP1_chr16_89608642_89643433	89635168	T T	TCCCCTTC others(849): Show TCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCCCTCCTTC TTCTTTC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	250	0.0040	856	c.105 others(871): Show c.105-737_105-736insCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTC TCCTTTCCCCTCCTTCTTCTTTCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635180	C C	CCTTTCCC others(849): Show CCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCCCTCC TTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCCCT CCTTCTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0006 a0001c0006t0001g0006	1	250	0.0040	856	c.105 others(871): Show c.105-713_105-712insCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCC CTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTC CCCTCCTTCTTCTTTCCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(849): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGATGGGGAGGGATGGATGGATGGATGGATGGATGGGTGGATG GATAGAAGGATGATGGGTGGGGAGGTGGGTGGGTGGGTGGGTGGATGGAC GGAGAGATGGATAGATGGATAGATGGATGATGGATGGATGGATGGAGAGA AGGATGGATGGGTGGGGAGGTGGGTGGGTGGTGGATGGGTGGATGGATGG ATGGGTGGGGAGGTGGGCGGGTGATGGATGGATGGATGCAGAGGTGGGTG GATGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGA TGGATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATGGATGGATGGATG CATGGATGGATGGATGGAGAGGTGGGTGGATGGGTGGATGGACAGAAGGA TGGATGGGTGGGGAGGTGGGTGAGTGGGTGGATGGATGAATGGGGAGGTG GATGGATGGATGGATGGATGAAGGATGGATGGGTGGGAGGTGGGTGGACG GATGGATGGATTGGGAGGTGGGTAGATGGGTGGATGGACAGAAGGATGGA TGGGTGGGGAGGTGGGTGGGTGGGTGGATGGATGGATGGGGAGGTGGATG GATGGATGGTTAGATGGGGAGGTGGGTGGATGGGTGGATGGACAGAAGGA TGGATGGGTAGGGAGGTAGGTGAGTGGATGGATGGATGGGGAGATGGATG GATGGATAGAGAGAAGGATGGATGGGTGGGACAATGGATGGATGGATGGA TAGAAGGATGGACGGGTGGGGAGATGGATGGATGGATGGATGGATGGATG GACAGAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0188 a0001c0003t0001g0188	1	374	0.0027	856	c.772 others(871): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT CCATCTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTGTCCC ACCCATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCATCCAT CCACTCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCCATCC ACCCACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCATCCAT CCACCCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCC ATCTACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCCCACCCATC CATCCTTCATCCATCCATCCATCCATCCACCTCCCCATTCATCCATCCAC CCACTCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCCATCC ACCCACCTCTCCATCCATCCATCCATGCATCCATCCATCCATCCATCCAC CCACCCACCTCCCCACTCATCCATCCATCCACCCACCCACCTCCCCACCC ATCCATCCTTCTCTCCATCCATCCATCCACCCACCTCTGCATCCATCCAT CCATCACCCGCCCACCTCCCCACCCATCCATCCATCCACCCATCCACCAC CCACCCACCTCCCCACCCATCCATCCTTCTCTCCATCCATCCATCCATCA TCCATCTATCCATCTATCCATCTCTCCGTCCATCCACCCACCCACCCACC CACCTCCCCACCCATCATCCTTCTATCCATCCACCCATCCATCCATCCAT CCATCCATCCCTCCCCATCCATCCATCCATCTCCCTACCCATTCATCCTT CTGTCCATCCACCCATCCACCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
GTPBP6_chrX_299759_323796	322348	A A	AAAAAAAG others(849): Show AAAAAAAGAAAAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTTCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAA AAAAAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGG ACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGG GCAATATGGTGAGACCCCATTATCTACAAAAAAAAAAAAAAAAGCCGGGC GTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAG GATTGCTTGAGCCCAGGAGTTTGATGCCAGCATGGGCAATATGGTAAGAC CCTATTATCTACAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCG GGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGG GAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAA GACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAGAAAAATTAGCCTG GTGTGGTGGTGGGTTCCTGTGGTCCCAGCTGCTCGGGACGCTGCGGTGGG AGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAG ACCCTATTATCTACAAAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGT GGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTG CTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAGTATGGTAAGACCCTAT TATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0143 a0006c0011t0003g0143	1	155	0.0065	856	c.-35 others(867): Show c.-3562_-3561insGTAGATAATAGGGTCTTACCATACTGCCCATGCT GGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTCTTTTTTTTTT TTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCTGGTGTCA AACTCCTGGGCTCAAGCAATCCTCCCACCGCAGCGTCCCGAGCAGCTGGG ACCACAGGAACCCACCACCACACCAGGCTAATTTTTCTTTTTTTTTTTTT TTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCTGGCGTCAA ACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGA CCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTCTTTTT TTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCTGGCAT CAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTG GGACCACAGGCACCCACCACCACGCCCGGCTTTTTTTTTTTTTTTTGTAG ATAATGGGGTCTCACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTC AAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCC ACCACCACGCCCGGCTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTAC CATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCAC CTCAGCGTCCCGAGCAGCTGGGACCACAGGAACCCACCACCACACCAGGC TAATTTTTCTTTTTTCTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3553		chrX	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(849): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	376	0.0027	856	c.666 others(873): Show c.666-4737_666-4736insTCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(849): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGTATATATGGAACATATATACATATATGTAT ATATGGAACATATATACATATATGGAACCAATACATACATGGAACATATA TATGTGGAACCAATACATACATGGAACATATATATGTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAA CATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCA ATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATATGCAACATATATATGTG GAACCAATACATATATGCAACATATATATGTGGAACCAATACATATATGC AACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0027 a0002c0002t0006g0027	1	323	0.0031	856	c.-36 others(867): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATAT ATCTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATATG CAACATATATATGTGGAACCAATACATATATGCAACATATATATGTGGAA CCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
JAKMIP3_chr10_132060946_132189858	132173149	T T	TCTCTCTC others(849): Show TCTCTCTCTCCCCCTCCCCCTCCTTCCCCTCTCTCTCTCCCCCTCCCCCT CCTTCCCTCTCTCTCTCCCCCTCCCCCCTCTCCCTCTCTCTCTCCCCCTC CCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTGTCTCCCC CTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCCTCT CCCCTCCCCCCCTCTCCCTCCCCCTCCCCCCATCCCCTCCCCTCCCCCTC CCTCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCCCCTCCTCCCCCTCC CCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCCCTCTCCCCCTCCCCTTCCCCCTCCC CTCCCCCCTCTCCCCCTCCCCTCCCCCCTCCTCCGTCCCCCTCTCCCCCT CCCCCTCTCTCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCTTCCCT CTCCCCCTCCCCTCCTTCCCTCTCCCCCTCCCCTCCTCCCTCTCCCCTCC CCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCC TTCCCTCTCTCTCTCTCCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCC CTCCTTCCCTCTCTCTCCCCCCCTCTCCTTCCCTCTCTCTCTCCCCCCCT CCTTCCCTCTGTCTCTCTCCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCC TCCTTCCCCCTGTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCC TCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCC TCCTTCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0092 a0004c0007t0004g0092	1	158	0.0063	856	c.11 others(877): Show c.1103+4125_*1103+4126insCCCCTCCCCCTCCTTCCCCTCTCT CTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCCTCTCCC TCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCT CCCCCTCTGTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCT CTCCCCTCCCCCCTCTCCCCTCCCCCCCTCTCCCTCCCCCTCCCCCCATC CCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCC CCCCTCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCTCCCCC TCCCCTTCCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCCTCCTCC GTCCCCCTCTCCCCCTCCCCCTCTCTCTCCCCTCCCCCCTCTCTCTCCCC CTCCCCCTCCTTCCCTCTCCCCCTCCCCTCCTTCCCTCTCCCCCTCCCCT CCTCCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCTTC CCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCCTCCTTCCCTC TCTCTCTCTCCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCTCCTTCCCT CTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCTTCCC TCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCCCCCTCCTTCCCCC TGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCC TGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KANK1_chr9_499695_751103	514139	C C	CCTTCCTC others(849): Show CCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTTCCCTCTCTC CCTCCTCCCTCCCTCCCTCCCTCCTCCCTTCCTCCCTTCCTCTCTCCCTC CCTCCCTCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTCCTCTCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCTCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTTCC TCCCTTCCTCTCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTCTCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTC CCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCTCTCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCTCTCCTCCCTC CCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTC TCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTC CCTTCCTCTCTCCCTCCCTCCCTCCCTTCCTCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTCTCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0147 a0002c0002t0002g0147	1	254	0.0039	856	c.-84 others(873): Show c.-84+9387_-84+9388insTCCTCTCTCCCTCCCTCCCTCCCTCCCT CCCTTCCCTTCCCTCTCTCCCTCCTCCCTCCCTCCCTCCCTCCTCCCTTC CTCCCTTCCTCTCTCCCTCCCTCCCTCCTCCCTTCCTTCCTCCCTCCCTC CCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCTCTCTCCCTCCCTCCTT CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCC TCCCTCCTCCCTCCCTTCCTCCCTTCCTCTCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTCTCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCC CTCCCTTCCTCTCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCT CCCTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTC CCTCCCTCTCTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCT CCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCC CTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTTCCT CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCTCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCTCT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
LDLRAD4_chr18_13213760_13657751	13261974	C C	CTGTGCGT others(849): Show CTGTGCGTGGGGGCTGAGTCCCGTGTGGCTCTGTGCGTGGGGGCTGAGTC CCGTGTGGCTCTGTGCGTGGAAACTGAGTCCCGTGTGGCCCTGTGCGTGG AAACTGAGTCCCGTGTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGCGG CTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTGGAAACTGAG TCCCGTGTGGCTCTGTGCGTGGGGGCTGAGTCCCGTGTGGCTCTGTGTGT GTGGAAACTGAGTCCCGTGTGGCTCTGTGCGTGGGGGCTGAGTCCCGTGC GGCCCTGTGCGTGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTG AGTCCCGTGCGGCTCTGTGCGTGGAAACTGAGTCCCGTGCGGCTCTGTGC GTGGAAACTGAGTCCCGTGTGGCTCTGTGTGTGGAAACTGAGTCCCGTGC AGCTCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGTGTGGAAACTG AGTCCCGTGCGGCCCTGTGCGTGGGGGCTGAGTCCCGTGTGGCCCTGTGC ATGGAAACTGAGTCCCGTGTGGCTCTGTGTGCCTGGGGGATGAGTCCTGT GTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGTGGCCCTGTGCGTGGAA ACTGAGTCCCGTGTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGCGGCT CTGTGCGTGGGGGCTGAGTCCCGTGTGGCTCTGTGCGTGGAAACTGAGTC CCGTGTGGCTCTGTGTGCCTGGGGGATGAGTCCTGTGTGGCTCTGTGTGT GTGGAAACTGAGTCCCGTGTGGCCCTGTGCGTGGAAACTGAGTCCCGTGT GGCTCTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03225.hp1 HG02896.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0040 a0001c0001t0036 a0001c0001t0040	a0001c0001t0036g0129 a0001c0001t0040g0127 a0001c0001t0036g0129 a0001c0001t0040g0127	2	178	0.0112	856	c.-46 others(877): Show c.-466-16127_-466-16126insCGTGGGGGCTGAGTCCCGTGTGGC TCTGTGCGTGGGGGCTGAGTCCCGTGTGGCTCTGTGCGTGGAAACTGAGT CCCGTGTGGCCCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGTGTG TGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCG GCCCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGCGTGGGGGCTGA GTCCCGTGTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGTGGCTCTGTG CGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTGGAAACTGAGTCCCGTG CGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCTCTGTGCGTGGAAACT GAGTCCCGTGCGGCTCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTG TGTGGAAACTGAGTCCCGTGCAGCTCTGTGCGTGGAAACTGAGTCCCGTG TGGCTCTGTGTGTGGAAACTGAGTCCCGTGCGGCCCTGTGCGTGGGGGCT GAGTCCCGTGTGGCCCTGTGCATGGAAACTGAGTCCCGTGTGGCTCTGTG TGCCTGGGGGATGAGTCCTGTGTGGCTCTGTGTGTGTGGAAACTGAGTCC CGTGTGGCCCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGTGTGTG GAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTGAGTCCCGTGTGGC TCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGTGCCTGGGGGATGA GTCCTGTGTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGTGGCCCTGTG CGTGGAAACTGAGTCCCGTGTGGCTCTGTGTG	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(849): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAAATATA GTCATATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATG TATATAAAACTATATACAGTCATATATGTATATAAAACTATACAGTCATA TATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATATA GTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTA TATAGTCATATATGTATATAAAACTATATAGTCATATATGTATATAAAAC TATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTA TAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATA GTTATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGT TATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATA CACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAA ACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0001 a0003c0006t0001g0001	1	422	0.0024	856	c.-29 others(867): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTAT ATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTATAT GTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAT ATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAA AACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATGTAT ATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATAT ATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGTCAT ATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATAT ATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATAT GTATGTAAAACTATAGTTATGTATGTAAAACTATAGTTATATATGTATGT AAAACTATATACAGTTATGTATGTATGTAAAACTATACACAGTTATGTAT GTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACAGTT ATGTATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCTT others(849): Show CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTTACACTCATGCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TTACACCCACGCTTACATCTACCTCCACACCCACAATTACACCCACACTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCC ACACTCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0270 a0001c0002t0020g0270	1	290	0.0035	856	c.129 others(873): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCTAC CTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC AATTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTCACACCCACCCACACTCACACCCACCCACACTTACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(849): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGAAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAG AAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGGGGAGGGGGGAGGAG GGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGG GGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGG AGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGA GTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAGG GAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGG AGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGA AGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCAG TAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGGA GGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAGA GTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGGG TGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGGA GGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAGG GGGAGGA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	280	0.0036	856	c.641 others(871): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCCCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCTTTTTCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCC CTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTC CTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(849): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGAAAAAGGGGGAG GAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGG AGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAG GGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGG GAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTG AAGAGGGAGAGGAGGGGGGAGGAAGGGAAAAGGGGGAGGAGGCGGAGCAG TAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGGA GGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAGA GTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGGG TGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGGA GGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAGG GGGAGGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	280	0.0036	856	c.641 others(871): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCC GCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCC CTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTT TTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCTCCTCCC CCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCC TCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTC CTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTC CCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCC CCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCC CTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTC CTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(849): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGG GGAGGGGCAGGGGGAGGGGGAAAAGGGGGCGGGGAAGGGGGGGAAAAAGG GGCGGGGGGGAAGGGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAA GGGGTGGGGGGAAGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAA GGGGAAAGGGGTGGGGGGAAGGGGGAAGGGGAAAGGGGTGAGGGGAAGGG GGGGAAGGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGGAGGGGAGGGG AGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGA GGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAG GGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGG GGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAG AGGGAGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGTGGAGGGGGAGGGAA GGGAGGGAGGAGGGAGGGGGAGTGGAGGGGAGGGAGTGGAGGGGGAGGGG GAGGGAGGAGGGGGATGGGAGGGGAGGGGAGGGAGGGGAGAGCGGAGGGA AGGGGAGGAGGAGGCGGGAGGGGGAGGGAGGGAAGGCGGGAGGGAGGGAG GAGTGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	272	0.0037	856	c.250 others(871): Show c.250+581_250+582insCCCACTCCTCCCTCCCTCCCGCCTTCCCTC CCTCCCCCTCCCGCCTCCTCCTCCCCTTCCCTCCGCTCTCCCCTCCCTCC CCTCCCCTCCCATCCCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCTCCC CTCCACTCCCCCTCCCTCCTCCCTCCCTTCCCTCCCCCTCCACCCTCCCC CTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCC CCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCATCC TCCCCTCACCCCTTTCCCCCCTTCCCCCCCTTCCCCTCACCCCTTTCCCC TTCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTT TCCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCC ACCCCTTTCCCCCCCTTCCCCCCCGCCCCTTTTTCCCCCCCTTCCCCGCC CCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGC CTTCCTCCTTCCCCCTCCTTCCCCCCTCCTTCCCCCTCCTTCCCCCTCCT TCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GGAGGAGA others(849): Show GGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGG AGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGG GAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAG GGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAG AAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0195 a0001c0001t0004g0195	1	250	0.0040	856	c.225 others(873): Show c.225-2388_225-2387insGGAGAGAGAGGGAAAGAGAGAGAGAAGG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAG AGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
PCBP3_chr21_45638725_45947450	45909791	C C	CCCCCCCC others(849): Show CCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAG ATACGGACCCCCTCCACCCACTGCCCAGATACGGACCTGGCCACCCACTG CCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACAGACCCGGCCCA CCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGACCC CCCCCCACCCACTTCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGA TACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCTCCACCCACTG CCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCC CACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGAC CCCCCCCCCACCCACTGCCCAGATACAGACCCGGCCACCCACTGCCCAGA TATGGACCCCCCCAACCCACTTCCCAGATATGGACCCCCCCAACCCACTT CCCAGATACGGACCCCCCCCCACCCACTTCCCAGATACGGACCCCCCCCC CACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGAC CCCCTCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCAC TGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACAGACCCGGC CACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGAC CCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAG ATACGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	292	0.0034	856	c.471 others(871): Show c.471+313_471+314insACCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCCCCTCCACCCACTGCCCAGATACGGACCTG GCCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACA GACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCA GATACGGACCCCCCCCCACCCACTTCCCAGATACGGACCCCCCCCCCACC CACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCC TCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACG GACCCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCC CAGATACGGACCCCCCCCCCACCCACTGCCCAGATACAGACCCGGCCACC CACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATATGGACCCCC CCAACCCACTTCCCAGATACGGACCCCCCCCCACCCACTTCCCAGATACG GACCCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCC CAGATACGGACCCCCTCCACCCACTGCCCAGATACGGACCCCCCCCCACC CACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCC GGCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGAT ACAGACCCGGCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCC CAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCAC CCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
POLG_chr15_89311320_89339824	89325065	T T	TGAGAGAG others(849): Show TGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTG AGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGTGAGTGAGTG AGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG AGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGTGAGTGAGAGAGTGAGTG AGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	398	0.0025	856	c.194 others(873): Show c.1949+384_1949+385insTCTCACTCACTCACTCTCTCACTCACTC ACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCAC TCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTC ACTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCTCTCAC TCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTC ACTCTCTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCAC TCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTC TCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCAC TCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCTCTCACTC ACTCACTCACTCACTCTCACTCACTCACTCACTCTCTCACTCACTCACTC TCTCACTCACTCACTCACTCACTCACTCTCACTCACTCTCTCACTCACAC TCACTCACTCACTCACTCACTCTCTCACTCTCACTCACTCACTCACTCAC TCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCACTCAC TCACTCTCTCACTCACTCACTCACTCACTCTCTCTCACTCACTCACTCTC TCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTC ACTCTCTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCAC TCACTCTCTCACTCTCTCACTCACTCACTCACTCACTCACTCACTCACTC TCTCACTCTCTCACTCACTCACTCTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
RGS17_chr6_152999459_153136282	153108701	T T	TAGAAAAT others(849): Show TAGAAAATTCCCCTACATTCCGAAAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTG TGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAG TAATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGCCTAGGA AAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTA TTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATT ATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAGAATG GACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATCCCAGCACTGT GGCAGGCCAAGGTGGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCC TGACCAACACGGAGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCT GGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTTGTGAGCTGAGATTGC ACCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCATCAAAAAAAA AAAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATGTCTGCACCA ATAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTTACAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18968.hp2 HG01433.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0046 a0001c0001t0008g0074 a0001c0001t0002g0046 a0001c0001t0008g0074	2	338	0.0059	856	c.-26 others(875): Show c.-26+22422_-26+22423insTTTTTTTTTTTTTTGTAAAGGACATA TCATATTTATTCATACACATGCTGGAATTATTGGTGCAGACATTTAAATA CATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTTTTGATGGAGTTTC CCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACAACA ACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTTTTATTTT TAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAACTCCTG ATCTCAGGTGATCTGCCCACCTTGGCCTGCCACAGTGCTGGGATTACAGT CGTGAGCCACCACAGCTGGCCTGGGAAAGTCCATTCTTTTTTTTTTTTTT TTTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCA CAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGC AGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCCG CGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGT GATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCAC ATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGT TTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAA GGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTC TACTTCTTTCGGAATGTAGGGGAATTTTCT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RPH3AL_chr17_207389_357807	355823	A A	AACAGTCG others(849): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACTCACAGT CGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAG GCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCA CCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACT CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCT CCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	133	0.0075	856	c.-33 others(867): Show c.-3325_-3324insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3017		chr17	TogoVar
RPH3AL_chr17_207389_357807	355862	A A	AACAGTCG others(849): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACTCACAGT CGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAG GCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCA CCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACT CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCT CCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0023 a0002c0005t0023	a0002c0005t0023g0125 a0002c0005t0023g0125	1	133	0.0075	856	c.-33 others(867): Show c.-3364_-3363insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3056		chr17	TogoVar
RPH3AL_chr17_207389_357807	355862	A A	AACAGTCG others(849): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGT CGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAG GCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCA CCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACT CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCT CCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	133	0.0075	856	c.-33 others(867): Show c.-3364_-3363insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGAGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3056		chr17	TogoVar
RPH3AL_chr17_207389_357807	355862	A A	AACAGTCG others(849): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGA CCGCGCACCACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACAC ACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGT CGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAG GCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCA CCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACT CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCT CCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	133	0.0075	856	c.-33 others(867): Show c.-3364_-3363insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTGAGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3056		chr17	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(849): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAG GAGGAACAGGAGGAGGAGGAGGAACAGGTGCTAGGACACTGTGGGGACGT CCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGA GAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGAC GTCCCAGATGCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAG GAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGA GGAGGAATAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAG GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGA GGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAAGCAC AGGAGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0005 a0003c0012t0002g0005	1	203	0.0049	856	c.-12 others(875): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCC TGCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGC ACCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTC CTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCT CCTCCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTA GCACCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCC TCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT GTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTC CTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTC TCCACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTT CTCCTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SIGIRR_chr11_400716_419999	412006	G G	GGGGAGGG others(849): Show GGGGAGGGGGGTGCCCAGCTCTGAACATGTCTGGATACAGTCGGGGAGGG GTGCTCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGGTGCCCAGC TCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCTCTGACCATG TCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAG TCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGAGG GTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGGTGCCCAGCT CTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTG GATACAGTCGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCG GTGGGGGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGG AGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGTGCCCA GCTCTGACCATGTCTGAATGCAGTCGGGGGGGGGGGGGTGCCCAGCTCTG ACCATGTCTGAATGCAGTCGGGGAGGGGGGTGCCCAGCTCTGACCATGTC TGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGG GCGGGGGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGG GGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGGGTGCCCA GCTCTGAACATGTCTGGATACAGTCGGGGAGGGGTGCTCAGCTCTGACCA TGTCTGGATACAGTCGGGGGGGGTGGTGCCCAGCTCTGACCATGTCTGGA TACAGTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0121 a0003c0007t0001g0121	1	242	0.0041	856	c.-15 others(875): Show c.-153-1980_-153-1979insGACTGTATCCAGACATGGTCAGAGCT GGGCACCACCCCCCCCGACTGTATCCAGACATGGTCAGAGCTGAGCACCC CTCCCCGACTGTATCCAGACATGTTCAGAGCTGGGCACCCCCCCCCCCGA CTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTGCATCC AGACATGGTCAGAGCTGAGCACCCCCCCCGCCCGACTGCATCCAGACATG GTCAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGC ACCCCCCTCCCCGACTGCATTCAGACATGGTCAGAGCTGGGCACCCCCCC CCCCCCGACTGCATTCAGACATGGTCAGAGCTGGGCACCCCCCCCGACTG CATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGACTGCATCCAGACA TGGTCAGAGCTGGGCACCCCCCCCCCCCCACCGACTGTATCCAGACATGG TCAGAGCTGGGCACCCCCCCCCGACTGTATCCAGACATGGTCAGAGCTGG GCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCTCCCCG ACTGTATCCAGACATGGTCAGAGCTGGGCACCCTCCCCCGACTGTATCCA GACATGGTCAGAGCTGGGCACCTCCCCCCGACTGTATCCAGACATGGTCA GAGCTGGGCACCTCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCAC CCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCG ACTGTATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGACTGTATCCA GACATGTTCAGAGCTGGGCACCCCCCTCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(849): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATGTAATA TATATTATATTTTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATATTACATATTATAATATAT AATATATATTATATATTATAATATATAATATATATTACATATTATAATAT ATAATATATTATATTTTATAATATATATAAAATATAATATATTATATTTT ATAATATATAATATATTATATTTTATAATATATAATATATTATATTTTAT AATATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATATATATTATAAAATATAATATATTATATTTTATAATATATAAT ATATCTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	340	0.0029	856	c.17 others(875): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATATTACATATTATAAAATATAATATATTATATATTATAAAATA TAATATATATTACATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAATATATA ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(849): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATGTAATA TATATTATATTTTATAATATGTAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATATTACATATTATAATATAT AATATATATTATATATTATAATATATAATATATATTACATATTATAATAT ATAATATATTATATTTTATAATATATATAAAATATAATATATTATATTTT ATAATATATAATATATTATATTTTATAATATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATATATATTATAAAATATAATATATTATATTTTATAATATATAAT ATATCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	340	0.0029	856	c.17 others(875): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAAAATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTACATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATATTACATATTATAAAATATAATATATTATATATTATAAAATA TAATATATATTACATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAATATATA ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246325098	C C	CGCGGGGG others(849): Show CGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAG AAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTC GGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGG CGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTC GGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAG AAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAG GAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGG CGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGT CGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGA GGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCG GGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAA GGAGTCG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	150	0.0067	856	c.531 others(873): Show c.531+2102_531+2103insCGACTCCTTCTCCCTCCTTCCTGCCCCC CGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCC TTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCC GACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTG CCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTC CTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCC GACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCC CGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCT GCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCG ACTCCTTCTCCCTCCTTCCCGCCCCCGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325271	G G	GGGGGGCG others(849): Show GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGA GGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTC GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGG AGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTC GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGA GGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGC AGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCG GGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGA GGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCA GGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCG GGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAG GAGTCGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02273.hp1 HG01496.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0040 a0001c0001t0002g0043	2	150	0.0133	856	c.531 others(873): Show c.531+1929_531+1930insGCGACTCCTTCTCCCTCCTTCCTGCCCC CCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCC TGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCC CTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTC CTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC TGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCC TCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCC TTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCT TCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCC TTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46169756	A A	AACATCCT others(849): Show AACATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTGTGAGCATCCTCTG TGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGG AGCCTCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTT TGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCT CTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGG GAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCCCC TACTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAG CATCCTCGTGGATGGGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGG ATGGGGAGGAGCCTCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGA GCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCCTGCT CTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATC CTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATG GGGAGGAGCCTCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCC TCCTGCTCTGTGAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGT GAACATCCTCTGTGGATGTGGAGGAGCCCCCTGCTCTGTGAGCATCCTCT GTGGATGGGGAGGAGCCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGA GGAGCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGC TCTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG01433.hp1 others(4): Show HG00639.hp1 HG01109.hp2 HG01433.hp1 HG01517.hp1 HG02109.hp1 HG02145.hp1 HG03516.hp1	a0004 a0012 a0004 a0012	a0004c0005 a0012c0014 a0004c0005 a0012c0014	a0004c0005t0006 a0004c0005t0012 a0004c0005t0018 others(1): Show a0004c0005t0006 a0004c0005t0012 a0004c0005t0018 a0012c0014t0028	a0004c0005t0006g0040 a0004c0005t0012g0093 a0004c0005t0012g0096 others(4): Show a0004c0005t0006g0040 a0004c0005t0012g0093 a0004c0005t0012g0096 a0004c0005t0018g0188 a0004c0005t0018g0189 a0004c0005t0018g0190 a0012c0014t0028g0041	7	251	0.0279	856	c.194 others(873): Show c.194-1099_194-1098insACACAGAGCAGGAGGCTCCTCCCCATCC ACAGAGGATGCTCACAGAGCAGGGGCTCCTCCCCATCCACAGAGGATGCT CACAGAGCAGGGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGG GGGCTCCTCCACATCCACAGAGGATGTTCACAGAGCAGGAGGCTCCTCCT GGACCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAG GATGCTCACAGAGCAGGGAGGCTCCTCCCCATCCACAGAGGATGTTCACA GAGCAGGAGGCTCCTCCTGGACCACAGAGGATGCTCACAGAGCAGGAGGC TCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGAGGCTCCTCCCCAT CCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGAT GCTCACAGAGCAGGGAGGCTCCTCCCCATCCACAGAGGATGTTCACAGAG CAGGGGGCTCCTCCCCATCCACGAGGATGCTCACAGAGCAGGAGGCTCCT CCCCATCCACAGAGGATGTTCACAGAGTAGGGGGCTCCTCCCCATCCACA GAGGATGTTCACAGAGCAGGGGGCTCCTCCCCATCCACAGAGGATGCTCA CAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGG CTCCTCCCCATCCACAGAGGATGCTCACAAAGCAGGAGGCTCCTCCCCAT CCACAGAGGATGCTCACAGAGCAGAGGCTCCTCCCCATCCACAGAGGATG CTCACAGAGCAGGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAG GGGGCTCCTCCCCATCCACAGAGGATGT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(849): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAG GGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGG AGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAA GGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGG AGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAG GGGGGGA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	322	0.0031	856	c.597 others(873): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCC CTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCT TCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCC CTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar

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