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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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
GRM4_chr6_34013643_34151087	34073265	C C	CCCCACAC others(700): Show CCCCACACACAGACTCACACATCACCACACAGATACACAACACACACACA TATCACACAGATACAGACCACACACACACACAATCACCACATAGATACAC ACCACACACACACACATCACCACATAGATACACACCACACACACATCACC ATACAGATACACACCACACACACATCTCCACACATTACCATACAAATATA CGCCATCCACACACACCCACACATCACCACACAGATACACACCACAGACA CATAATCACCACACACCACACAGACACACACATCACCACACAGATACACA CCACACACACCCCCATACATCACCACACAGATACACACCACGCACCACAC AGATACACACCACACACACCCACACATCACCACACAGATACATACCACAC ACACACACAATCACCACACACCACCACACAGGTACAAACCCACAAATCAC CACACAGATACACACCCCACACAGACACATGCACATACATCACACACACA CCACACACACACATCGCCACACAGACACACACCCACATCACCACACAGCT ACATACCACACACACACACCACCACACATCACCACACAGATGCACAACAC ACACCCACACATCACCACACAGACACACACACACACATCATCAGATACAC ACCACATGCACGTCACCACACAGATACCACACACACGTCATCGGATACAC ACCACGCA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0177 a0001c0001t0014g0177	1	282	0.0036	707	c.737 others(726): Show c.737-11238_737-11237insTGCGTGGTGTGTATCCGATGACGTGT GTGTGGTATCTGTGTGGTGACGTGCATGTGGTGTGTATCTGATGATGTGT GTGTGTGTGTCTGTGTGGTGATGTGTGGGTGTGTGTTGTGCATCTGTGTG GTGATGTGTGGTGGTGTGTGTGTGTGGTATGTAGCTGTGTGGTGATGTGG GTGTGTGTCTGTGTGGCGATGTGTGTGTGTGGTGTGTGTGTGATGTATGT GCATGTGTCTGTGTGGGGTGTGTATCTGTGTGGTGATTTGTGGGTTTGTA CCTGTGTGGTGGTGTGTGGTGATTGTGTGTGTGTGTGGTATGTATCTGTG TGGTGATGTGTGGGTGTGTGTGGTGTGTATCTGTGTGGTGCGTGGTGTGT ATCTGTGTGGTGATGTATGGGGGTGTGTGTGGTGTGTATCTGTGTGGTGA TGTGTGTGTCTGTGTGGTGTGTGGTGATTATGTGTCTGTGGTGTGTATCT GTGTGGTGATGTGTGGGTGTGTGTGGATGGCGTATATTTGTATGGTAATG TGTGGAGATGTGTGTGTGGTGTGTATCTGTATGGTGATGTGTGTGTGGTG TGTATCTATGTGGTGATGTGTGTGTGTGTGGTGTGTATCTATGTGGTGAT TGTGTGTGTGTGTGGTCTGTATCTGTGTGATATGTGTGTGTGTTGTGTAT CTGTGTGGTGATGTGTGAGTCTGTGTGTGGG	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
GTPBP6_chrX_299759_323796	323694	G G	GTGTGTGT others(700): Show GTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGC CCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGA CGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCT CCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGC GTCCCCAGGTGGTGAGCTCAGGGACGTTTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGT TCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTC CTGGGCTCCTGGGTTCCGTTTGCCCTGTTCATAGAGATGGAATGAGGGCG TCCCCAGGTGGTGAGCTCAGGGACGTTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTTTGCCCTGT TCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGT GTGTGTGTGTGTGTGGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGC CCTGTTCTTAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGA CGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	155	0.0065	707	c.-49 others(718): Show c.-4908_-4907insTACACACGTCCCTGAGCTCACCACCTGGGGACGC CCTCATTCCATCTCTAAGAACAGGGCAGACGGAACCCAGGAGCCCAGGAG ATTGACGGCCACACACACACACACACACGTCCCTGAGCTCACCACCTGGG GACGCCCTCATTCCATCTCTATGAACAGGGCAAACGGAACCCAGGAGCCC AGGAGATTGACGGCTACACACACACACACACACACACACACACACACAAC GTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAG GGCAAACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACACACACA CACACACACACACACACACACACACACCGTCCCTGAGCTCACCACCTGGG GACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCC AGGAGATTGACGGCTACACACACACACACACACACACACACACACAAACG TCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGG GCAGACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACACACACAC ACACACACACACACACACACACCGTCCCTGAGCTCACCACCTGGGGACGC CCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAG ATTGACGGCTACACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4899		chrX	TogoVar
HBQ1_chr16_175459_186179	186153	G G	GGAGGAAC others(700): Show GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGGGGAACAGCGACACG GGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACAC GGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	707	c.50 others(718): Show c.5045_*5046insGAGGAACAGCGACACGGGGAGGAACAGCGACACG GAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGA GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GAGGAACAGCGACACGGGAGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4975		chr16	TogoVar
HLA-DRB1_chr6_32573775_32594848	32587399	A A	AAATAAAT others(700): Show AAATAAATTGAATATAAATTGACTCTCCTTGTAACCATACAGTAGCTTCT CGTATCTATTTAAATAAAATTCAGTCCGGCCGCGGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATTATCTGAGGTCAGGAG TTCGAGACCAGCATGGTCAACATGGTGATACCCCATGTCTACTAAAAATA CAAAAAAATAAAAATTAGCCAGGTATGGTGGTGGGTGCCTGTAATCTCAG ATACTTGGGAAGCTGAGGCAGGAGAATCACTTGAACCAGGGAGGCGAAGG TTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAA CGAAACTCCGTCTCAAAAAAAAAAAAATAGGCCAGGCGTGGTGGCTCACA CCTGTAGTCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCA GGAGATGGAGACCACCCTGGCTAACATGACGAAATGCCCTCACTACTAAA AATACTAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTA CTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGTGGAGCTTG CAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGCGAG ACTCCATCTCAAAAAATAAATAAATAAATAAATAAATAAATAAATAAATA AATAAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03017.hp2 NA18940.hp2 others(7): Show HG01109.hp2 HG03017.hp2 NA18940.hp2 NA18943.hp1 NA18981.hp2 NA18989.hp2 NA18994.hp2 NA19006.hp2 NA19065.hp2 NA19074.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0003 a0007c0006t0003	a0007c0006t0003g0007 a0007c0006t0003g0018 a0007c0006t0003g0053 a0007c0006t0003g0007 a0007c0006t0003g0018 a0007c0006t0003g0053	10	208	0.0481	707	c.100 others(724): Show c.100+2243_100+2244insATTTTATTTATTTATTTATTTATTTATT TATTTATTTATTTATTTTTTGAGATGGAGTCTCGCTTTGTTGCCCAGGCT GGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCACCTCCTGGGTT CATGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACC CGCCACCACACCTGGCTAATTTTTAGTATTTTTAGTAGTGAGGGCATTTC GTCATGTTAGCCAGGGTGGTCTCCATCTCCTGACCTCGTGATCCACCTGC CTCGGCCTCCCAAAGTGCTGAGACTACAGGTGTGAGCCACCACGCCTGGC CTATTTTTTTTTTTTTGAGACGGAGTTTCGTTCTTGTTGCCCAGGCTGGA GTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCGCCTCCCTGGTTCAA GTGATTCTCCTGCCTCAGCTTCCCAAGTATCTGAGATTACAGGCACCCAC CACCATACCTGGCTAATTTTTATTTTTTTGTATTTTTAGTAGACATGGGG TATCACCATGTTGACCATGCTGGTCTCGAACTCCTGACCTCAGATAATCT GTCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCG GCCGGACTGAATTTTATTTAAATAGATACGAGAAGCTACTGTATGGTTAC AAGGAGAGTCAATTTATATTCAATTTATT	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	1/5			chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32587399	A A	AAATAAAT others(700): Show AAATAAATTGAATATAAATTGACTCTCCTTGTAACCATACAGTAGCTTCT CGTATCTATTTAAATAAAATTCAGTCCGGCCGCGGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATTATCTGAGGTCAGGAG TTCGAGACCAGCATGGTCAACATGGTGATACCCCATGTCTACTAAAAATA CAAAAAAATAAAAATTAGCCAGGTATGGTGGTGGGTGCCTGTAATCTCAG ATACTTGGGAAGCTGAGGCAGGAGAATCACTTGAACCAGGGAGGCGAAGG TTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAA CGAAACTCCGTCTCAAAAAAAAAAAAATAGGCCAGGCGTGGTGGCTCACA CCTGTAGTCTCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCA GGAGATGGAGACCACCCTGGCTAACATGACGAAATGCCCTCACTACTAAA AATACTAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTA CTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGTGGAGCTTG CAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGCGAG ACTCCATCTCAAAAAATAAATAAATAAATAAATAAATAAATAAATAAATA AATAAAAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0003 a0007c0006t0003	a0007c0006t0003g0051 a0007c0006t0003g0051	1	208	0.0048	707	c.100 others(724): Show c.100+2243_100+2244insATTTTATTTATTTATTTATTTATTTATT TATTTATTTATTTATTTTTTGAGATGGAGTCTCGCTTTGTTGCCCAGGCT GGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCACCTCCTGGGTT CATGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACC CGCCACCACACCTGGCTAATTTTTAGTATTTTTAGTAGTGAGGGCATTTC GTCATGTTAGCCAGGGTGGTCTCCATCTCCTGACCTCGTGATCCACCTGC CTCAGCCTCCCAAAGTGCTGAGACTACAGGTGTGAGCCACCACGCCTGGC CTATTTTTTTTTTTTTGAGACGGAGTTTCGTTCTTGTTGCCCAGGCTGGA GTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCGCCTCCCTGGTTCAA GTGATTCTCCTGCCTCAGCTTCCCAAGTATCTGAGATTACAGGCACCCAC CACCATACCTGGCTAATTTTTATTTTTTTGTATTTTTAGTAGACATGGGG TATCACCATGTTGACCATGCTGGTCTCGAACTCCTGACCTCAGATAATCT GTCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCG GCCGGACTGAATTTTATTTAAATAGATACGAGAAGCTACTGTATGGTTAC AAGGAGAGTCAATTTATATTCAATTTATT	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	1/5			chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32587399	A A	AAATAAAT others(700): Show AAATAAATTGAATATAAATTGACTCTCCTTGTAACCATACAGTAGCTTCT CGTATCTATTTAAATAAAATTCAGTCTGGCCGCGGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATTATCTGAGGTCAGGAG TTCGAGACCAGCATGGTCAACATGGTGATACCCCATGTCTACTAAAAATA CAAAAAAATAAAAATTAGCCAGGTATGGTGGTGGGTGCCTGTAATCTCAG ATACTTGGGAAGCTGAGGCAGGAGAATCACTTGAACCAGGGAGGCGAAGG TTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAA CGAAACTCCGTCTCAAAAAAAAAAAAATAGGCCAGGCGTGGTGGCTCACA CCTGTAGTCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCA GGAGATGGAGACCACCCTGGCTAACATGACGAAATGCCCTCACTACTAAA AATACTAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTA CTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGTGGAGCTTG CAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGCGAG ACTCCATCTCAAAAAATAAATAAATAAATAAATAAATAAATAAATAAATA AATAAAAT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0003 a0017c0019t0003	a0017c0019t0003g0052 a0017c0019t0003g0052	1	208	0.0048	707	c.100 others(724): Show c.100+2243_100+2244insATTTTATTTATTTATTTATTTATTTATT TATTTATTTATTTATTTTTTGAGATGGAGTCTCGCTTTGTTGCCCAGGCT GGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCACCTCCTGGGTT CATGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACC CGCCACCACACCTGGCTAATTTTTAGTATTTTTAGTAGTGAGGGCATTTC GTCATGTTAGCCAGGGTGGTCTCCATCTCCTGACCTCGTGATCCACCTGC CTCGGCCTCCCAAAGTGCTGAGACTACAGGTGTGAGCCACCACGCCTGGC CTATTTTTTTTTTTTTGAGACGGAGTTTCGTTCTTGTTGCCCAGGCTGGA GTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCGCCTCCCTGGTTCAA GTGATTCTCCTGCCTCAGCTTCCCAAGTATCTGAGATTACAGGCACCCAC CACCATACCTGGCTAATTTTTATTTTTTTGTATTTTTAGTAGACATGGGG TATCACCATGTTGACCATGCTGGTCTCGAACTCCTGACCTCAGATAATCT GTCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCG GCCAGACTGAATTTTATTTAAATAGATACGAGAAGCTACTGTATGGTTAC AAGGAGAGTCAATTTATATTCAATTTATT	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	1/5			chr6	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(700): Show TTTTATTTTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0184 a0001c0008t0001g0184	1	394	0.0025	707	c.41- others(722): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAAAAATAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IFNAR1_chr21_33319970_33364864	33322157	T T	TGGAATAT others(700): Show TGGAATATATATGGAATATATACATGGAATATATATATGGAATATATATA TCTGGAACATATATATGGAATATATATATATGGAACATATATATGGAATA TATATATATGGAACATATATATGCAATATATATATATGGAATATATATAT GCAATATATATATATGGAATATATATATGCAATATATATATATGGAATAT ATATATGCAATATATATATATGGAATATATATATGCAGTATATATATATG AATATATATATGGAATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATGTGGAATATATATAT GGAATATATATGTGGAATATATATATGGAATATATATATATGTGGAATAT ATATATGGAATATATATATATGTGGAATATATATATGGAATATATATATG GAATATATATATATGGAATATATATATGGAATATATACATGGAATATATG TATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAA TATGTGTATATGGAATATATACATGGAATATGTGTATATGGAATATATAC ATGGAATATGTGTATATGGAATATATACATGGAATATATGTATATGGAAT ATATACATGGAATATATATATGGAATATATACATGGAATATATATATGGA ATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0204 a0002c0002t0002g0204	1	323	0.0031	707	c.-28 others(718): Show c.-2899_-2898insGGAATATATATGGAATATATACATGGAATATATA TATGGAATATATATATCTGGAACATATATATGGAATATATATATATGGAA CATATATATGGAATATATATATATGGAACATATATATGCAATATATATAT ATGGAATATATATATGCAATATATATATATGGAATATATATATGCAATAT ATATATATGGAATATATATATGCAATATATATATATGGAATATATATATG CAGTATATATATATGAATATATATATGGAATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT GTGGAATATATATATGGAATATATATGTGGAATATATATATGGAATATAT ATATATGTGGAATATATATATGGAATATATATATATGTGGAATATATATA TGGAATATATATATGGAATATATATATATGGAATATATATATGGAATATA TACATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGG AATATATACATGGAATATGTGTATATGGAATATATACATGGAATATGTGT ATATGGAATATATACATGGAATATGTGTATATGGAATATATACATGGAAT ATATGTATATGGAATATATACATGGAATATATATATGGAATATATACATG GAATATATATATGGAATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2812		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322314	T T	TGCAATAT others(700): Show TGCAATATATATATATGGAATATATATATGCAGTATATATATATGAATAT ATATATGGAATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATATGTGGAATATATATATGGAATATATATATATGTGGAATATA TATATGGAATATATATATGGAATATATACATGGAATATATGTATATGGAA TATATACATGGAATATATGTATATGGAATATATACATGGAATATGTGTAT ATGGAATATATACATGGAATATGTGTATATGGAATATATACATGGAATAT ATATATGGAATATATACATGGAATATATATATGGAATATATACATGGAAT ATATATATATGGAATATATACATGGAATATATATATATGGAATATATACA TGGAATATATATATATGGAATATATACATGGAATATATATATATGGAATA TATACATGGAATATATATATATGGAATATATACATGGAATATATATATGG AATATATACATGGAATATATATATATGGAATATATACATGGAATATATAC ATGGAATATATACATGGAACATATACATGGAATATATACATGGAACATAT ACATGGAATATATATATATGGAACATATACGGAATATATATATATGGAAT ATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0027 a0002c0002t0006g0027	1	323	0.0031	707	c.-27 others(718): Show c.-2742_-2741insGCAATATATATATATGGAATATATATATGCAGTA TATATATATGAATATATATATGGAATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATGGAATATATATATGGAATATATATATGGA ATATATATATGGAATATATATATATGTGGAATATATATATGGAATATATA TATATGTGGAATATATATATGGAATATATATATGGAATATATACATGGAA TATATGTATATGGAATATATACATGGAATATATGTATATGGAATATATAC ATGGAATATGTGTATATGGAATATATACATGGAATATGTGTATATGGAAT ATATACATGGAATATATATATGGAATATATACATGGAATATATATATGGA ATATATACATGGAATATATATATATGGAATATATACATGGAATATATATA TATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATA TATATATATGGAATATATACATGGAATATATATATATGGAATATATACAT GGAATATATATATGGAATATATACATGGAATATATATATATGGAATATAT ACATGGAATATATACATGGAATATATACATGGAACATATACATGGAATAT ATACATGGAACATATACATGGAATATATATATATGGAACATATACGGAAT ATATATATATGGAATATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2655		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323136	T T	TATATATA others(700): Show TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATAT ACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATATG GAATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATA TATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGG AATATATATGTATGGAATATATATGTATGGAATATATATATGGAATATAT ATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGA ATATATATATGGAATATATATGTATGGAATATATATATGGAATATATATG TATGGAATATACATATGGAATATATATGTTTGGAATATATATATATGGAA TATATGTATGGAATATATATATGGAATATATGTATGGAATATATATATAT GGAATATATGTATGGAATATATATATATGGAATATATGTATGGAATATAT ATATATGGAATATATGTATGGAATATATATATGGAATATATGTATGGAAT ATATATATGGAATATATGTATATGGAATATATATATGGAATATATGTATA TGGAATATATATGGAATATATATATATGGAATATATATATGGAATATATA TATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0195 a0002c0002t0002g0195	1	323	0.0031	707	c.-19 others(718): Show c.-1920_-1919insATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTATG GAATATATATATATGGAATATATATGTATGGAATATATATATGGAATATA TATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGG AATATATATGTATGGAATATATATGTATGGAATATATATGTATGGAATAT ATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATG GAATATATATATGGAATATATATATGGAATATATATGTATGGAATATATA TATGGAATATATATGTATGGAATATACATATGGAATATATATGTTTGGAA TATATATATATGGAATATATGTATGGAATATATATATGGAATATATGTAT GGAATATATATATATGGAATATATGTATGGAATATATATATATGGAATAT ATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATGGA ATATATGTATGGAATATATATATGGAATATATGTATATGGAATATATATA TGGAATATATGTATATGGAATATATATGGAATATATATATATGGAATATA TATATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1833		chr21	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(700): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGAGAAG AGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGG GGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGA GGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGA GGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGG AGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02572.hp2 HG03195.hp2 others(2): Show HG01891.hp2 HG02572.hp2 HG03195.hp2 NA18522.hp2 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0004 a0001c0001t0006 a0005c0009t0068 a0001c0001t0004 a0001c0001t0006 a0005c0009t0068	a0001c0001t0004g0004 a0001c0001t0006g0005 a0001c0001t0006g0056 others(2): Show a0001c0001t0004g0004 a0001c0001t0006g0005 a0001c0001t0006g0056 a0001c0001t0006g0058 a0005c0009t0068g0044	5	386	0.0130	707	c.-46 others(718): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTCTTCT CTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCT CCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTC TCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCC TCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTC TCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCT CCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTT TCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCT CCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCT TCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCT CTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429379	A A	AGGGAGGT others(700): Show AGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGGAGA AGGAAGAAGTGAAGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAGAA AGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGAGGAGAAGAG GAGGGGAGGAGGAGGAAAAGGTGAAAGGTAGGAGGGAGAGGAGGGACAAA AGAGGAGAAGGAGGAGGAGAAGGGAGAGGAGAAGTGAAGGGGAGAGGGAA GAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAGGAGGAGGGAAGA AAGGAAGGGAGGAGGAGGGAGAAGGAGGGGAGGAGGAGGAGAGGAAGAAG GAGGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAGGAGAGGGGAGAG AGAGAGAGGAGGAGGGGAGGAGGAGAGAAGGAGGAGGGGAGGAGGAGGAG AGGAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAG AGGAGGAGGAGGAGAGGAAGGAGGAGGGAGGAGGAAGCAAGAAAGAGGAA GGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAG GAGGGGAGGAGGAGGAGAAAGGAAAGAGGGAGGAGGAGGGAGAAAGGAAA GGGAGGAGGAGGGAGAAAGGAAGAGGGAGGAGAAAGGAGAAAGGAGGAGG GAAGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	386	0.0026	707	c.-46 others(718): Show c.-4679_-4678insCCTCCTTCCCTCCTCCTTTCTCCTTTCTCCTCCC TCTTCCTTTCTCCCTCCTCCTCCCTTTCCTTTCTCCCTCCTCCTCCCTCT TTCCTTTCTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGAC TCTTTCCTCTCCTCCTCCCCCTCCTTCCTCTTTCTTGCTTCCTCCTCCCT CCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTC TTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCCTTCTC TCCTCCTCCCCTCCTCCTCTCTCTCTCTCCCCTCTCCTCCTCTCCTCCTC CCCTCTTCTCTCCTCCTCCCCCTCCTTCTTCCTCTCCTCCTCCTCCCCTC CTTCTCCCTCCTCCTCCCTTCCTTTCTTCCCTCCTCCTCCTTCCCTCCTC CTTTCTCTTCTTTTCTCCCACTTCTTCCCTCTCCCCTTCACTTCTCCTCT CCCTTCTCCTCCTCCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTACCTT TCACCTTTTCCTCCTCCTCCCCTCCTCTTCTCCTCCCCTCCCCTCATCTT TTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCT CCCTTCTCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCC TCTCTTTTCTCCCTCCACCTCCC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4569		chr19	TogoVar
LAMA5_chr20_62304065_62372312	62349742	G G	GGTGGGGG others(700): Show GGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATGG TGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGACG GTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGGG TGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGG TGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGA TGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGG GTGATGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATGGT GGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGATGATGG TGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTG ATGACGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGT GATGGTGGGGGTGATGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGA TGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGAGG GTGATGAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	186	0.0054	707	c.956 others(724): Show c.956+1961_956+1962insATCATCACCCTCACCATCATCACCCCCA CCCCCACCATCATCACCCCCACCATCACCATCATCACCCCCACCCCCACC ATCACCACCCCCACCATCACCCCCACCATCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCATCATCACCCTCACCATC ATCACCCCCACCCCCACCATCATCACCCCCACCATCACCATCATCACCCC CACCCCCACCATCACCACCCCCACCATCACCCCCACCATCACCGTCATCA CCCCCACCCCCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACC CCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACATCACCGTCATCACCCCCCCACCCCCATCATCA CCGTCATCACCCCTCCACCCCCATCATCACCGTCATCACCCCCACCATCA TCACCCCCAGCCCCACCGTCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCATCACCACCCCCACCCCCAC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349805	T T	TGGCGGTG others(700): Show TGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGG GGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTGATGATGGT GATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGG GGGTGGGGGTGGGGGTAATGACGGTGGGGTGGGGGTAATGACGGTGGGGG TGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGATGATGGTGGGGGTG ATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGAC GGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGG TGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTG ATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGT GGGGGTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGG TGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTG GGGGTGGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0043 a0043	a0043c0097 a0043c0097	a0043c0097t0002 a0043c0097t0002	a0043c0097t0002g0088 a0043c0097t0002g0088	1	186	0.0054	707	c.956 others(724): Show c.956+1898_956+1899insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCGCCATCACCGTCATCACCCCCACCATCATCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATTACCCCC ACCCCACCGTCATTACCCCCACCCCCACCCCCACCATCACCCCCACCATC ATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCCACCAT CATCACCCTCACCCCCACCCCCACCCCCACCCCCACCCCCACCATCATCA CCTCTACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACC CCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCGCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(700): Show CCACACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTT CAAACACACACACCTCCTTCAAACACACACACACCTCCAAACACACACAC ACCTAACACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTA ACACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACA CACACACACCACACACACACATCTAACACACACCTCCTTCAGACACACAC CTCCAAACACACACACACCTTACACACACCTTCAAACACACACACACACC TAACACACACCTCCTTCAAACACACACACCTCCAAACACACACATCTAAC ACACACCTCCTTCAAACACACACACACACCTCCACACACACACACACACC TAACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTA ACACACAGCTTCTTCAAACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCTAACACA CACCTCCTTCAAACACACACCTCCACACACACACACACCTAACACACACC TCCTTCAAACACACACACCTCCAAACACACACACACCTAACACACACACC TTCAAACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02896.hp1 HG03516.hp1 others(1): Show HG02145.hp2 HG02896.hp1 HG03516.hp1 HG03540.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0016 a0001c0001 a0002c0002 a0009c0016	a0001c0001t0001 a0002c0002t0003 a0009c0016t0004 a0001c0001t0001 a0002c0002t0003 a0009c0016t0004	a0001c0001t0001g0253 a0002c0002t0003g0044 a0002c0002t0003g0045 others(1): Show a0001c0001t0001g0253 a0002c0002t0003g0044 a0002c0002t0003g0045 a0009c0016t0004g0046	4	262	0.0153	707	c.212 others(726): Show c.212+10958_212+10959insACACCTAACACGCACCTCGTTCAAAC GCACACACCCCCTTCAAACACACACACCTCCTTCAAACACACACACACCT CCAAACACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAA CACACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACAC CCGTCCTTCAAACACACACACACCACACACACACATCTAACACACACCTC CTTCAGACACACACCTCCAAACACACACACACCTTACACACACCTTCAAA CACACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAA CACACACATCTAACACACACCTCCTTCAAACACACACACACACCTCCACA CACACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAA CACACACACACCTAACACACAGCTTCTTCAAACACACACACACCTCCAAA CACACACACACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCAC ACACACCTAACACACACCTCCTTCAAACACACACCTCCACACACACACAC ACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACACACAC CTAACACACACACCTTCAAACACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(700): Show CCACACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTT CAAACACACACACCTCCTTCAAACACACACACACCTCCAAACACACACAC ACCTAACACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTA ACACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACA CACACACACCACACACACACATCTAACACACACCTCCTTCAGACACACAC CTCCAAACACACACACACCTTACACACACCTTCAAACACACACACACACC TAACACACACCTCCTTCAAACACACACACCTCCAAACACACACATCTAAC ACACACCTCCTTCAAACACACACACACACCTCCACACACACACACACACC TAACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTA ACACACAGCTTCTTCAAACACACACACACCTCCAAACATACACACACCTA ACACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCTAACACA CACCTCCTTCAAACACACACCTCCACACACACACACACCTAACACACACC TCCTTCAAACACACACACCTCCAAACACACACACACCTAACACACACACC TTCAAACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01081.hp1 others(11): Show HG00099.hp2 HG00733.hp2 HG01081.hp1 HG01192.hp1 HG01243.hp2 HG02451.hp2 HG02615.hp1 HG02896.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0003c0004 a0004c0003	a0001c0001t0004 a0002c0002t0003 a0002c0006t0003 others(4): Show a0001c0001t0004 a0002c0002t0003 a0002c0006t0003 a0003c0004t0001 a0003c0004t0004 a0004c0003t0002 a0004c0003t0003	a0001c0001t0004g0054 a0001c0001t0004g0080 a0002c0002t0003g0063 others(11): Show a0001c0001t0004g0054 a0001c0001t0004g0080 a0002c0002t0003g0063 a0002c0002t0003g0081 a0002c0002t0003g0085 a0002c0002t0003g0089 a0002c0006t0003g0083 a0002c0006t0003g0090 a0003c0004t0001g0223 a0003c0004t0001g0224 a0003c0004t0004g0064 a0004c0003t0002g0111 a0004c0003t0003g0079 a0004c0003t0003g0082	14	262	0.0534	707	c.212 others(726): Show c.212+10958_212+10959insACACCTAACACGCACCTCGTTCAAAC GCACACACCCCCTTCAAACACACACACCTCCTTCAAACACACACACACCT CCAAACACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAA CACACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACAC CCGTCCTTCAAACACACACACACCACACACACACATCTAACACACACCTC CTTCAGACACACACCTCCAAACACACACACACCTTACACACACCTTCAAA CACACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAA CACACACATCTAACACACACCTCCTTCAAACACACACACACACCTCCACA CACACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAA CACACACACACCTAACACACAGCTTCTTCAAACACACACACACCTCCAAA CATACACACACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCAC ACACACCTAACACACACCTCCTTCAAACACACACCTCCACACACACACAC ACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACACACAC CTAACACACACACCTTCAAACACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(700): Show CCACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTTCA AACACACACACCTCCTTCAAACACACACACACCTCCAAACACACACACAC CTAACACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTAAC ACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACACA CACACACCACACACACACATCTAACACACACCTCCTTCAGACACACACCT CCAAACACACACACACCTTACACACACCCCTCCTTCAAACACACACACAC CTCCAAAGACACACACACACCTATCACACCTTCAAACACACACATCTAAC ACACACCTCCTTCAAACACACACACACACCTCCACACACACACACACACC TAACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTA ACACACAGCTTCTTCAAACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCTAACACA CACCTCCTTCAAACACACACCTCCACACACACACACACCTAACACACACC TCCTTCAAACACACACACCTCCAAACACACACACACCTAACACACACACC TTCAAACA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01361.hp1 HG02486.hp2 others(1): Show HG01256.hp1 HG01361.hp1 HG02486.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0003c0031	a0001c0001t0001 a0002c0002t0002 a0003c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0004t0001 a0003c0031t0001	a0001c0001t0001g0138 a0002c0002t0002g0163 a0003c0004t0001g0110 others(1): Show a0001c0001t0001g0138 a0002c0002t0002g0163 a0003c0004t0001g0110 a0003c0031t0001g0137	4	262	0.0153	707	c.212 others(726): Show c.212+10958_212+10959insACCTAACACGCACCTCGTTCAAACGC ACACACCCCCTTCAAACACACACACCTCCTTCAAACACACACACACCTCC AAACACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAACA CACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAACA CACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACCC GTCCTTCAAACACACACACACCACACACACACATCTAACACACACCTCCT TCAGACACACACCTCCAAACACACACACACCTTACACACACCCCTCCTTC AAACACACACACACCTCCAAAGACACACACACACCTATCACACCTTCAAA CACACACATCTAACACACACCTCCTTCAAACACACACACACACCTCCACA CACACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAA CACACACACACCTAACACACAGCTTCTTCAAACACACACACACCTCCAAA CACACACACACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCAC ACACACCTAACACACACCTCCTTCAAACACACACCTCCACACACACACAC ACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACACACAC CTAACACACACACCTTCAAACACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(700): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGT GGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCA CAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCT CTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATC CCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAG GTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATA GAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCC CTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAA GAGCTCAGCTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCC GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG GTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGG TTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGC CCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0078 a0002c0006t0002g0078	1	418	0.0024	707	c.23 others(718): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTCCTG CGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTTTTT TTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGC GCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAGTC TGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCT GGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAG GCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTTTT TTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(700): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGT GGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCA CAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCT CTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATC CCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAG GTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATA GAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCC TGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAG AGCTCAGCTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCC GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG GTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGG TTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGC CCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0057 a0002c0002t0002g0057	1	418	0.0024	707	c.23 others(718): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTCCT GCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTTTT TTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGC GCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAGTC TGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCT GGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAG GCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTTTT TTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(700): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACA AGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCC AGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGT TGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGA GCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTG CAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAG CTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCC GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG GTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGG TTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGC CCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG02004.hp2 HG02015.hp2 others(4): Show HG01934.hp1 HG02004.hp2 HG02015.hp2 HG03927.hp1 HG06807.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0041 a0001c0001t0006 a0001c0001t0041	a0001c0001t0006g0016 a0001c0001t0006g0168 a0001c0001t0006g0198 others(2): Show a0001c0001t0006g0016 a0001c0001t0006g0168 a0001c0001t0006g0198 a0001c0001t0006g0223 a0001c0001t0041g0232	7	418	0.0168	707	c.23 others(718): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTG GCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAG TCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGC CTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCC AGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTT TTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(700): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCAGTGGC TCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACAA GGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCA GCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGTT GCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGAG CAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTG CAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAG CTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCC GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG GTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGG TTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGC CCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	418	0.0024	707	c.23 others(718): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(700): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCAGTGGC TCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACAA GGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCA GCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGTT GCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGAG CAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTGC AATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAGC TCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCC GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG GTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGG TTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGC CCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 NA18993.hp1 NA19068.hp1 others(1): Show HG04115.hp1 NA18993.hp1 NA19068.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0023g0108 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0023g0108	4	418	0.0096	707	c.23 others(718): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(700): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTGGC TCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGAGCAGATCACAA GGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCA GCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGTT GCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGAG CAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTGC AATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAGC TCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCC GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG GTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGG TTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGC CCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 NA18906.hp2 HG02451.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0049 a0001c0001t0009 a0001c0001t0049	a0001c0001t0009g0018 a0001c0001t0049g0082 a0001c0001t0009g0018 a0001c0001t0049g0082	2	418	0.0048	707	c.23 others(718): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTTGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(700): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCAGTGGCT CACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACAAG GTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAG CTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGTTG CAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGAGC AAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTGC AATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAGC TCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCC GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG GTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGG TTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGC CCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0131 a0001c0001t0023g0131	1	418	0.0024	707	c.23 others(718): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(700): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTGGCT CACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGAGCAGATCACAAG GTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAG CTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGTTG CAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGAGC AAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTGCA ATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAGCT CAGCTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCC GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG GTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGG TTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGC CCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02895.hp2 HG02572.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0030 a0001c0001t0009g0054 a0001c0001t0009g0030 a0001c0001t0009g0054	2	418	0.0048	707	c.23 others(718): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCAT TCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTTGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(700): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAGAAAAAAAAAAAAGGGCAGGGCGCGGTGGCT CACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACAAG GTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAG CTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGTTG CAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGAGC AAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTGC AATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAGC TCAGCCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCC GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG GTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGG TTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGC CCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01346.hp2 HG03490.hp1 HG01167.hp2 HG01346.hp2 HG03490.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0019 a0003c0003t0019 a0001c0001t0019 a0003c0003t0019	a0001c0001t0019g0218 a0001c0001t0019g0219 a0003c0003t0019g0220 a0001c0001t0019g0218 a0001c0001t0019g0219 a0003c0003t0019g0220	3	418	0.0072	707	c.23 others(718): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTCTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(700): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGG GGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGG GGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAG GGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAG GGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGG GAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAAGG GAGGGTGG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	272	0.0037	707	c.250 others(722): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC ATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCC CCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCC CCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCT CCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCC TTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(700): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTC CCCTCCCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCC CTCCTCCC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	140	0.0071	707	c.114 others(726): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCC CTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCCCATCC CCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYO7A_chr11_77123246_77220241	77192977	G G	GCGATGGT others(700): Show GCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGATGGTGGG GAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGAT GGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGCTGTTGG TGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGCTG TTGGTGATCGTGGAGGTAGTGATGGTGTTGTTGGTGATGGTGGAGGTGGT GTTGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGG TAGTGATGGTGTTGGTACTGATGATGGTGGTGATGGTGGAGGAGGTAGTG ATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGA TGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAG GTGGTGATGGTGTTGATGGTGGGGAGGTAGTGATGGTGTTGGTGATGGTG GAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGAT GGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGG TGTTGGTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTG GTGATGGTGGAGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGAT GGTGTTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0052	1	356	0.0028	707	c.415 others(724): Show c.4152+699_4152+700insCGATGGTGTTGTTGGTGATGGTGGAGGT GGTGATGGTGTTGATGGTGGGGAGGTAGTGATGGTGTTGGTGATGGTGGA GGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGG TGGAGGTAGTGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTG ATGGTGGAGGTAGTGATGCTGTTGGTGATCGTGGAGGTAGTGATGGTGTT GTTGGTGATGGTGGAGGTGGTGTTGGTGTTGGTGATGGTGGAGGTAGTGA TGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTACTGATGATGGTG GTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGT TTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATG GTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGATGGTGGGGAGGTA GTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGA GGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGG TGGAGGTAGTGATGGTGTTGGTGTTGGTGGAGGTAGTGATGGTGTTGGTG ATGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGTT TGTGATGGTGGAGGTAGTGATGGTGTTGT	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48			chr11	TogoVar
NKAIN2_chr6_123798865_124830640	124687566	T T	TATATTCC others(700): Show TATATTCCATACATATACATACATGGTATATATTCCATACATATACATAC ATGGTATATATTCCATATATACATACATGGTATATATTCCTATATATACA TACATGGTATATATTCCATATATATACATACATGGTATATATTCCATATA TATATACACATACATGGTATATATTCCATATATATATACACATACATGGT ATATATTCCATATATACATACATGGTATATATTCCTATATATACATACAT GGTATATATTCCTATATATACATACATGGTATATATTCCATATATATACA TACATGGTATATATTCCATATATATATACATACATGGTATATATTCCATA TATATACATACATGGAATATATATATTCCATACATGGAATATATATATTC CATATATACATATATATATTCCATATATACACATATATATATTCCATATA TACACATATACATGGAATATATATCTGTATATATATGGAATATATATATG TATATATATGAAATATATATGTATATGTATTTATATTATGTATTTATATT ATAAATATATATTATGTATATATATTTATATTATAAATATATATTATGTA TATATATTTATATTATAAATATATATTATGTATATATATTTATAATATAA ATATATATTATGTATATATATTTATATTATAAATATATATTATGTATATA TATTTATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0017 a0002c0004t0017	a0002c0004t0017g0013 a0002c0004t0017g0013	1	66	0.0152	707	c.474 others(726): Show c.474+29184_474+29185insTCCATACATATACATACATGGTATAT ATTCCATACATATACATACATGGTATATATTCCATATATACATACATGGT ATATATTCCTATATATACATACATGGTATATATTCCATATATATACATAC ATGGTATATATTCCATATATATATACACATACATGGTATATATTCCATAT ATATATACACATACATGGTATATATTCCATATATACATACATGGTATATA TTCCTATATATACATACATGGTATATATTCCTATATATACATACATGGTA TATATTCCATATATATACATACATGGTATATATTCCATATATATATACAT ACATGGTATATATTCCATATATATACATACATGGAATATATATATTCCAT ACATGGAATATATATATTCCATATATACATATATATATTCCATATATACA CATATATATATTCCATATATACACATATACATGGAATATATATCTGTATA TATATGGAATATATATATGTATATATATGAAATATATATGTATATGTATT TATATTATGTATTTATATTATAAATATATATTATGTATATATATTTATAT TATAAATATATATTATGTATATATATTTATATTATAAATATATATTATGT ATATATATTTATAATATAAATATATATTATGTATATATATTTATATTATA AATATATATTATGTATATATATTTATAATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(700): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGACCCCCCCCA GTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCC CTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCAGTCCCTCC CCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCAAGTCCCTCCCCACAGA GCCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCC CAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGT CCGTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCA CAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAG CCCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCA CTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCT CCCCACAGAGCCCCCCAGTCCCCCCCCCACAGAGCCCCCGAGTCTGTCCC CACAGGCCCCACTGGACACCAGGCTCCAGTCCCTCCCCACAGAGCCCCCG AGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGAC ACCAGGCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0143 a0001c0006t0002g0143	1	324	0.0031	707	c.140 others(724): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGAGCCTGGTGTCCAGTGGGGCCTGTGGGGACAGACTCGGGGGCTCT GTGGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCCTGTGGG GACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTCTGTGGGGACGG ACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGG GGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCT CTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGG GGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGA GGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGA CTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGC TCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTG TGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGG GAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGGGTCTGTGGGGAG GGACTGGGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	948952	C C	CCCCCTGC others(700): Show CCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTC CTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCC TCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCT CTCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCC CCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTC TCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTC CTCCTCTC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	242	0.0041	707	c.360 others(726): Show c.360+30366_360+30367insGAGAGGAGGAGGCAGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCC ACGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGG AGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAG GAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCG GGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAG GAGGCCGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGAGAG GAGGAGGCAGGGGGAGAGGAGGAGGCAGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(700): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGACAGTGAGTGGT GAGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGATGGTGGTGATG GTGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGAC AGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGATGAGTGGGGAT GATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGG TGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGTGATGATGAT GAGTGGGGATGATTATGATTATGGTGATGGTGGTGGTGATGGTGATTGTT GTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGG TGATGGTGATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGAT GGTGACTGTTGTAATGGTGATGGTGGTGATGGTGATGATGGTGGTGACGA CAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGA GGGTCATGGTGATGGTGATGATGATGAGTGGGGATGGTGGTGATGGTGAC TGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGACGACAGTGA GTGGTGAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0050 a0003c0003t0001g0050	1	380	0.0026	707	c.255 others(726): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCAC CACCATCACCATAATCATAATCATCCCCACTCATCATCATCACCATCACC ATCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACAA CAATCACCATCACCACCACCATCACCATAATCATCCCCACTCATCATCAT CATCACCATCACCATGACCCTCACCACTCACTGTCATCACCACCACCATC ACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATCATCCC CACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATCAC CACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACC ACCACCTTCACCACTCACTGTCGTCACCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PLCXD1_chrX_276381_308356	280328	A A	AGGCAGAG others(700): Show AGGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGCAGGAGGAGGG GAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTG CAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAG CGGAGGCCGTGCAGGGGGAGGGGGAGGCCGTGCAGGGGGAAGGGGGGCCG TGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGA AGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGGAGCGGGGGCCG TGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGG AGGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCC GTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGG AAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGC CGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGG GAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGC CGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCAGGG GGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGT ACGTGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0066 a0001c0001t0031g0066	1	176	0.0057	707	c.-13 others(718): Show c.-1378_-1377insGGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGC CGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCAGGG GGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGT ACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGGAGGCCGTGCAG GGGGAAGGGGGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGA GGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAG GCGGAGCGGGGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGG AGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCA GGGGGAAGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGG AGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCA GGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAGGG GAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGC AGGGGGAGGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGCAGC GGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTG CAGGCGGAGGGGGGTACGTGCAG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		1052		chrX	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(700): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCG CGATCTCG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	396	0.0025	707	c.907 others(724): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTG GAATGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(700): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCCATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCG CGATCTCG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18964.hp1 NA18946.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0151 a0001c0001t0002g0139 a0001c0001t0002g0151	2	396	0.0051	707	c.907 others(724): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTG GAATGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(700): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCG CGATCTCG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	396	0.0025	707	c.907 others(724): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCTCCTCAGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTG GAATGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(700): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCACCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCAAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCG CGATCTCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0155 a0001c0001t0006g0155	1	396	0.0025	707	c.907 others(724): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCAAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTG GAATGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(700): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCATGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCG CGATCTCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG02630.hp2 others(5): Show HG01884.hp2 HG02622.hp1 HG02630.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 a0001c0001t0001 a0001c0001t0008 a0001c0001t0015	a0001c0001t0001g0298 a0001c0001t0008g0014 a0001c0001t0008g0295 others(3): Show a0001c0001t0001g0298 a0001c0001t0008g0014 a0001c0001t0008g0295 a0001c0001t0008g0296 a0001c0001t0008g0297 a0001c0001t0015g0294	8	396	0.0202	707	c.907 others(724): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCATGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTG GAATGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(700): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCG CGATCTCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00609.hp1 others(74): Show HG00408.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG01109.hp1 HG01243.hp2 HG01891.hp1 HG01975.hp1 HG01981.hp1 HG02027.hp2 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03540.hp2 HG03654.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp2 NA18961.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18997.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0002t0002	a0001c0001t0002g0001 a0001c0001t0002g0019 a0001c0001t0002g0021 others(48): Show a0001c0001t0002g0001 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0153 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0292 a0001c0001t0003g0078 a0001c0001t0004g0028 a0001c0001t0004g0141 a0001c0001t0004g0220 a0001c0001t0004g0250 a0001c0001t0006g0009 a0001c0001t0006g0114 a0001c0001t0006g0115 a0001c0001t0006g0123 a0001c0001t0006g0133 a0001c0001t0006g0136 a0001c0001t0006g0142 a0001c0001t0006g0144 a0001c0001t0006g0156 a0001c0001t0006g0187 a0001c0001t0006g0188 a0001c0001t0006g0205 a0001c0001t0007g0132 a0001c0001t0013g0077 a0001c0002t0002g0119 a0001c0002t0002g0127 a0001c0002t0002g0160	77	396	0.1944	707	c.907 others(724): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTG GAATGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGCATGAC others(700): Show AGCATGACTTGGGATGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG GGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGC CTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCA GGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCT CTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTT TCTCTGAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0012 a0012	a0012c0029 a0012c0029	a0012c0029t0012 a0012c0029t0012	a0012c0029t0012g0021 a0012c0029t0012g0021	1	340	0.0029	707	c.227 others(724): Show c.227+3604_227+3605insCATGACTTGGGATGCTGGGGGGCAGGGG GCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTG AGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCT CTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTT CTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAG CCCTGTCATCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(700): Show AGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGATGCTGGGGGGCAGGG GGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGC CTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCA GGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCT CTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTT TCTCTGAG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0201 a0002c0004t0005g0201	1	340	0.0029	707	c.227 others(724): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACT TGGGATGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTG AGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCT CTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTT CTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAG CCCTGTCATCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(700): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATATGTAATACACAATATAT ATTATATAATATGTAATACACAATATATATTATATAATATGTAATACACA ATATATATTATATAATATGTAATACACAATATATATTATATAATATGTAA TACACAATATATATTATATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATATGTAATACACAATATATTATATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACATTATACATTATTATATAAGTATATGTAATACATTATAGATTATTATA TAAGTATATGTAATATATATTATACATTATTATATAAGTATATGTAATAT ATATTATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0099 a0001c0001t0043g0099	1	220	0.0046	707	c.24+ others(724): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATATGTAATACACAATATATATTATATAATATGTAATACACAATATATA TTATATAATATGTAATACACAATATATATTATATAATATGTAATACACAA TATATATTATATAATATGTAATACACAATATATATTATATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATATGTAATACACAATATATTATAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACATTATACATTATTATATAAGTATATGT AATACATTATAGATTATTATATAAGTATATGTAATATATATTATACATTA TTATATAAGTATATGTAATATATATTATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RFX2_chr19_5988164_6115500	6070181	A A	ATGGGATG others(700): Show ATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGG GATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATGTGGAT GGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGGGTGGG ATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATG TGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGA GTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATAGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGG ATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GTGGATAGGGTGGGATGAAACGTGGATGGGATGGAAAGGGATGTGGATGG AGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAATAGGA TGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGT GGATGGAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02895.hp1 HG02897.hp1 others(1): Show HG02080.hp1 HG02895.hp1 HG02897.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0300 a0001c0001t0003g0018 a0001c0001t0003g0019 others(1): Show a0001c0001t0001g0300 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0008g0301	4	308	0.0130	707	c.-8- others(724): Show c.-8-22678_-8-22677insCTCCATCCACATCCCTTTCCATCCCATC CACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCC CATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCAT CCCATCCACGTTTCATCCCACCCTATCCACATCCCATCCCATCCACATCC CATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATC CCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCA TCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCC CATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCTATCCACATCCCTTTCCA TCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATCC ACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTCA TTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATCC CATCCCATCTACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCACATCCCATCCCA	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148700	T T	TCCTCCTT others(700): Show TCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCAC CCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTC CCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCA CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCA GAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGC CCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCT CCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGA AAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCC CTTCCCAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0015 a0001c0030t0001g0015	1	203	0.0049	707	c.167 others(722): Show c.167+668_167+669insGTGGGAAGGGGCGGGAGGTTTTCTGGGGTG AAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGA AGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGT TTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAA GGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAG GGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTT TCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGG AGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGG GCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTC TGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAG GGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGC GGGAGGTTTTCTGGGGTGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTT TCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGG AGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGG GCGGGAGGTTTTCTGGGGTGAAGGAGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148929	T T	TCACCCCA others(700): Show TCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAA CCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTT CCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTC ACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACC TCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCC CACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCAC CCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTC CCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCA CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCA GAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGC CCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCT CCTTCACC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0193 a0001c0010t0001g0193	1	203	0.0049	707	c.167 others(722): Show c.167+439_167+440insGGTGAAGGAGGGTGGGAAGGGGCGGGAGGT TTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAA GGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAG GGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTT TCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGG AGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGG GCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTC TGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAG GGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGC GGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTG GGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGG TGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGG GAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGG GTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTG GGAAGGGGCGGGAGGTTTTCTGGGGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(700): Show CCCCCACTCTCCTCATTCTACCCCCCACAAGCATTGCTCCAACCCTCCCC CACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCA CTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTC TCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCC TCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCA TTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTC TATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTAC CCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCC CCAACAAGCATTGCTTCAACCCTCCCCCACGCTCCTCATTCTATCCCCCC ACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACA AGCATCACTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCAT CACTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCT CCAACCCTCCCCCAACTCTCCTCATTCTACCCCCCCCACAAGCATAGCTC CAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCCCACAAGCACTGCT CCAACCCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0031 a0003c0001t0001g0031	1	280	0.0036	707	c.89- others(720): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGGTA GAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAG AATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAAT GAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGA GAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAG TAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGG GGGAGGGTTGAAGCAATGCTTGTTGGGGGATAGAATGAGGAGAGTGGGGG GAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGG GTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGT TGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGA GCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGC TATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATG CTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCT TGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGT GGGGGGTAGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(700): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATATTCCATATATAT ATATATTCCATATATATATATATATTCCATATATATATATATTCCATATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATTCCATATATATATATTCCATATATATATATT CCATATATATATATTCCATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATTCCATATATA TATATTCC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	324	0.0031	707	c.115 others(724): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATGGAATATATATATATATGGAATATATATAT ATGGAATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATATGGAATATATATATAT ATGGAATATATATATATATATGGAATATATATATATATGGAATATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(700): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATATTCCATATATATATATATTCCATATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATTCCATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATTCCATATATATATATTCCATATATATATATTCCAT ATATATATATTCCATATATATATATTCCATATATATATATTCCATATATA TATATTCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	324	0.0031	707	c.115 others(724): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATATGGAATATATATAT ATGGAATATATATATATATGGAATATATATATATGGAATATATATATATA TATGGAATATATATATATATGGAATATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(700): Show CATATATATATATATTCCATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATATTCCATATATATATATATTCCATATATATATA TATATTCCATATATATATATATTCCATATATATATATATATTCCATATAT ATATATTCCATATATATATATATTCCATATATATATATTCCATATATATA TATATTCCATATATATATATTCCATATATATATATATTCCATATATATAT ATTCCATATATATATATATATTCCATATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATTCCATATATATATATTCCATATATATATATT CCATATATATATATTCCATATATATATATTCCATATATATATATATTCCA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATTCCATATATATATATTCCATATATATATATTCCATATATA TATATTCC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	324	0.0031	707	c.115 others(724): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATATGGAATATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATGGAATATATATATA TATATGGAATATATATATATATGGAATATATATATATATATGGAATATAT ATATATATGGAATATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar

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