Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CACNA1C_chr12_2047987_2702950	2407255	C C	CACATCGT others(611): Show CACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCATGAC CCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCA GTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCTTCATCAT GACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGT GCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCAT CATGACCCAGTGGGAAGGAATGTCCTTTTGATAATAGCCGTCCTGATAAG TGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCTT CATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGAT AAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAG CCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCT GATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGG GAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGT CCTGATAAGTGTGCGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	104	0.0096	618	c.478 others(637): Show c.478-41452_478-41451insTGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGG GGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCG TCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTAC TGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAG CCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGG TACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAA TAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGT GGGTACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGA TAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCA TGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407706	C C	CTCATCAT others(611): Show CTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTG ATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGG AGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTC CTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTG GGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCC GTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTA CTGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATA GCCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGG GTACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATA ATAGCCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATG TGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTG ATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACC ATGTGGGTACTGGGGAGCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0011 a0001c0003t0040g0011	1	104	0.0096	618	c.478 others(637): Show c.478-41246_478-41245insCGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCC TGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGGTACTGG GGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCG TCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTAC TGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAG CCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGTGGG TACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAA TAGCCGTCCTGATAAGTGTGCGGTGGACATCGTCTCCACCGACACCATGT GGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGA TAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCCACCGACACCA TGTGGGTACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185649	T T	TCAGCGTG others(611): Show TCAGCGTGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0075 a0075	a0075c0119 a0075c0119	a0075c0119t0001 a0075c0119t0001	a0075c0119t0001g0313 a0075c0119t0001g0313	1	338	0.0030	618	c.300 others(635): Show c.300-9322_300-9321insAGCGTGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCG GGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGG CCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTA GGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGAC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(611): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0175 a0002c0013t0001g0175	1	338	0.0030	618	c.300 others(635): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(611): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCC TTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCGTCCGTCCTTCCCTCC TTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCC CTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCC CTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCT CCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0131 a0001c0001t0050g0131	1	142	0.0070	618	c.244 others(637): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAG GAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGG GAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGA AGGACGGACGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAG GAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGA AGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAG GAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(611): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCC TTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCC TTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCC CTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCC CTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCT CCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03704.hp2 HG02129.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0044 a0001c0001t0021 a0001c0001t0044	a0001c0001t0021g0068 a0001c0001t0044g0083 a0001c0001t0021g0068 a0001c0001t0044g0083	2	142	0.0141	618	c.244 others(637): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA AGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAG GAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGG GAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGA AGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAG GAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGA AGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAG GAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(611): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCC TTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTT CCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCC TTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCCT CTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCC TTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCT CCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0133 a0001c0001t0052g0133	1	142	0.0070	618	c.244 others(637): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAG GAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGA GGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGA GGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGA AGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAG GAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMTA1_chr1_6780454_7774706	6940929	A A	AGGGGGGT others(611): Show AGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCA CGGGGAAGGGCATCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGAT CCTCAGGGGGAGGGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAG GGGGGGATCCTCCTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTC AGGGGGAGGGGGATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCT CACGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGAGGA TCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGG GGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGG AGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAG GGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCC TCAGGGGGAGGGGGATCCTCACGGGGAGGCGGGTCCTCAGAGGGAGGGGG GATCCTTGTGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGGG TGGGGGGATCCTCACAGGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	58	0.0172	618	c.234 others(639): Show c.234+115719_234+115720insGGGGGGTCCTCAGAGGGAGAGGGA TCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAA GGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCAT GAGGAGGGGGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGT GGATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGA GGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGG AGGGGGATCCTCAGGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAG GGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGTGGATCCT CACGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGA TCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGG GGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGG GAGGCGGGTCCTCAGAGGGAGGGGGGATCCTTGTGGGGAGGGGGATCCTC ACAGGGTGGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22			chr1	TogoVar
CCDC57_chr17_82096470_82217842	82148365	G G	GTGGGTGG others(611): Show GTGGGTGGATGGGTAGATGGATGGATGGATGGTTGGGTGGGTGGGTGGAT GGATGGGTGGATGGATACATGGATGCATGGGTGGGTGAAATGATGAATGG GTGGGTGGATGGATGGATAGATAGGTGGGTGGATGGATGGGTGGGTGAAT GGTAGATGGATGGATGGATGGGTGGGTGGGTAGATGGATAGATGGATGGG TGGGCAGATAGATGAATGGGTGGGTGGATGGGTAGATGGATGGATGGTTG GGTGGGTGGACAGATGGACGGGTGGATGAATACATGGATGGGTGGGTGGA TGGATGGATGGAAGGATAGATAGGTGGGTGGATGGATGGGTGGGTGGGTG GGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGGATGGA TGGGTGGGTGGGTAGATGGGTGGATGGATAGATGGATGGGTGGGGGGGAT AAGTGGTTGGATGGTTAGACGGATGGATGGATGGATGAATAGATAGGTGG GTGGATGGATGGGTGGGTGGATAGTGGATGGATGGATGGGTGGGTGGGTA GATGGGTAGATGGATGGATGGATGGGTGGGTGGATGGATGGTAGATGGAT GGATGGGTGGGTGGATACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG03098.hp1 others(1): Show HG01884.hp1 HG02280.hp2 HG03098.hp1 HG03471.hp2	a0009 a0021 a0009 a0021	a0009c0012 a0021c0026 a0009c0012 a0021c0026	a0009c0012t0001 a0021c0026t0001 a0009c0012t0001 a0021c0026t0001	a0009c0012t0001g0029 a0009c0012t0001g0030 a0009c0012t0001g0031 others(1): Show a0009c0012t0001g0029 a0009c0012t0001g0030 a0009c0012t0001g0031 a0021c0026t0001g0028	4	252	0.0159	618	c.245 others(637): Show c.2455+3194_2455+3195insTGTATCCACCCACCCATCCATCCATC TACCATCCATCCACCCACCCATCCATCCATCCATCTACCCATCTACCCAC CCACCCATCCATCCATCCACTATCCACCCACCCATCCATCCACCCACCTA TCTATTCATCCATCCATCCATCCGTCTAACCATCCAACCACTTATCCCCC CCACCCATCCATCTATCCATCCACCCATCTACCCACCCACCCATCCATCC ACCCACCCACCCATCCATCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCATCCATCCACCCACCTATCTATCCTTCCATCCATCCATCCACCC ACCCATCCATGTATTCATCCACCCGTCCATCTGTCCACCCACCCAACCAT CCATCCATCTACCCATCCACCCACCCATTCATCTATCTGCCCACCCATCC ATCTATCCATCTACCCACCCACCCATCCATCCATCCATCTACCATTCACC CACCCATCCATCCACCCACCTATCTATCCATCCATCCACCCACCCATTCA TCATTTCACCCACCCATGCATCCATGTATCCATCCACCCATCCATCCACC CACCCACCCAACCATCCATCCATCCATCTACCCATCCACCCA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC57_chr17_82096470_82217842	82148365	G G	GTGGGTGG others(611): Show GTGGGTGGATGGGTAGATGGATGGATGGATGGTTGGGTGGGTGGGTGGAT GGATGGGTGGATGGATACATGGATGCGTGGGTGGGTGAAATGATGAATGG GTGGGTGGATGGATGGATAGATAGGTGGGTGGATGGATGGGTGGGTGAAT GGTAGATGGATGGATGGATGGGTGGGTGGGTAGATGGATAGATGGATGGG TGGGCAGATAGATGAATGGGTGGGTGGATGGGTAGATGGATGGATGGTTG GGTGGGTGGACAGATGGACGGGTGGATGAATACATGGATGGGTGGGTGGA TGGATGGATGGAAGGATAGATAGGTGGGTGGATGGATGGGTGGGTGGGTG GGTGGATGGATGGGTGGGTGGGTGGATGGATGGATGGGTGGGTGGATGGA TGGGTGGGTGGGTAGATGGGTGGATGGATAGATGGATGGGTGGGGGGGAT AAGTGGTTGGATGGTTAGACGGATGGATGGATGGATGAATAGATAGGTGG GTGGATGGATGGGTGGGTGGATAGTGGATGGATGGATGGGTGGGTGGGTA GATGGGTAGATGGATGGATGGATGGGTGGGTGGATGGATGGTAGATGGAT GGATGGGTGGGTGGATACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp1 HG02922.hp1 others(2): Show HG01255.hp2 HG02109.hp1 HG02922.hp1 HG03579.hp2 NA20129.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0099 a0002c0005t0002g0100 a0002c0005t0002g0101 others(2): Show a0002c0005t0002g0099 a0002c0005t0002g0100 a0002c0005t0002g0101 a0002c0005t0002g0102 a0002c0005t0002g0103	5	252	0.0198	618	c.245 others(637): Show c.2455+3194_2455+3195insTGTATCCACCCACCCATCCATCCATC TACCATCCATCCACCCACCCATCCATCCATCCATCTACCCATCTACCCAC CCACCCATCCATCCATCCACTATCCACCCACCCATCCATCCACCCACCTA TCTATTCATCCATCCATCCATCCGTCTAACCATCCAACCACTTATCCCCC CCACCCATCCATCTATCCATCCACCCATCTACCCACCCACCCATCCATCC ACCCACCCATCCATCCATCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCATCCATCCACCCACCTATCTATCCTTCCATCCATCCATCCACCC ACCCATCCATGTATTCATCCACCCGTCCATCTGTCCACCCACCCAACCAT CCATCCATCTACCCATCCACCCACCCATTCATCTATCTGCCCACCCATCC ATCTATCCATCTACCCACCCACCCATCCATCCATCCATCTACCATTCACC CACCCATCCATCCACCCACCTATCTATCCATCCATCCACCCACCCATTCA TCATTTCACCCACCCACGCATCCATGTATCCATCCACCCATCCATCCACC CACCCACCCAACCATCCATCCATCCATCTACCCATCCACCCA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC57_chr17_82096470_82217842	82148365	G G	GTGGGTGG others(611): Show GTGGGTGGATGGGTAGATGGATGGATGGATGGTTGGGTGGGTGGGTGGAT GGATGGGTGGATGGATACATGGATGCGTGGGTGGGTGAAATGATGAATGG GTGGGTGGATGGATGGATAGATAGGTGGGTGGATGGATGGGTGGGTGAAT GGTAGATGGATGGATGGATGGGTGGGTGGGTAGATGGATAGATGGATGGG TGGGCAGATAGATGAATGGGTGGGTGGATGGGTAGATGGATGGATGGTTG GGTGGGTGGACAGATGGACGGGTGGATGAATACATGGATGGGTGGGTGGA TGGATGGATGGAAGGATAGATAGGTGGGTGGATGGATGGGTGGGTGGGTG GGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGGATGGA TGGGTGGGTGGGTAGATGGGTGGATGGATAGATGGATGGGTGGGGGGGAT AAGTGGTTGGATGGTTAGACGGATGGATGGATGGATGAATAGATAGGTGG GTGGATGGATGGGTGGGTGGATAGTGGATGGATGGATGGGTGGGTGGGTA GATGGGTAGATGGATGGATGGATGGGTGGGTGGATGGATGGTAGATGGAT GGATGGGTGAGTGGATACA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG02895.hp2 others(2): Show HG01261.hp2 HG01891.hp2 HG02895.hp2 HG03579.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0005 others(2): Show a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0005 a0002c0003t0001g0006 a0002c0003t0001g0007	5	252	0.0198	618	c.245 others(637): Show c.2455+3194_2455+3195insTGTATCCACTCACCCATCCATCCATC TACCATCCATCCACCCACCCATCCATCCATCCATCTACCCATCTACCCAC CCACCCATCCATCCATCCACTATCCACCCACCCATCCATCCACCCACCTA TCTATTCATCCATCCATCCATCCGTCTAACCATCCAACCACTTATCCCCC CCACCCATCCATCTATCCATCCACCCATCTACCCACCCACCCATCCATCC ACCCACCCACCCATCCATCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCATCCATCCACCCACCTATCTATCCTTCCATCCATCCATCCACCC ACCCATCCATGTATTCATCCACCCGTCCATCTGTCCACCCACCCAACCAT CCATCCATCTACCCATCCACCCACCCATTCATCTATCTGCCCACCCATCC ATCTATCCATCTACCCACCCACCCATCCATCCATCCATCTACCATTCACC CACCCATCCATCCACCCACCTATCTATCCATCCATCCACCCACCCATTCA TCATTTCACCCACCCACGCATCCATGTATCCATCCACCCATCCATCCACC CACCCACCCAACCATCCATCCATCCATCTACCCATCCACCCA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC57_chr17_82096470_82217842	82148365	G G	GTGGGTGG others(611): Show GTGGGTGGATGGGTAGATGGATGGATGGATGGTTGGGTGGGTGGGTGGAT GGATGGGTGGATGGATACATGGATGCGTGGGTGGGTGAAATGATGAATGG GTGGGTGGATGGATGGATAGATAGGTGGGTGGATGGATGGGTGGGTGAAT GGTAGATGGATGGATGGATGGGTGGGTGGGTAGATGGATAGATGGATGGG TGGGCAGATAGATGAATGGGTGGGTGGATGGGTAGATGGATGGATGGTTG GGTGGGTGGACAGATGGACGGGTGGATGAATACATGGATGGGTGGGTGGA TGGATGGATGGAAGGATAGATAGGTGGGTGGATGGATGGGTGGGTGGGTG GGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGGATGGA TGGGTGGGTGGGTAGATGGGTGGATGGATAGATGGATGGGTGGGGGGGAT AAGTGGTTGGATGGTTAGACGGATGGATGGATGGATGAATAGATAGGTGG GTGGATGGATGGGTGGGTGGATAGTGGATGGATGGATGGGTGGGTGGGTA GATGGGTAGATGGATGGATGGATGGGTGGGTGGATGGATGGTAGATGGAT GGATGGGTGGGTGGATACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00558.hp2 others(33): Show HG00140.hp2 HG00280.hp1 HG00558.hp2 HG00642.hp1 HG01192.hp1 HG01256.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02486.hp2 HG02622.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03492.hp2 HG03710.hp1 HG03834.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18959.hp1 NA18964.hp1 NA18980.hp2 NA18982.hp2 NA19002.hp2 NA19010.hp2 NA19070.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0008 a0016 others(1): Show a0002 a0008 a0016 a0025	a0002c0003 a0002c0005 a0002c0006 others(4): Show a0002c0003 a0002c0005 a0002c0006 a0002c0009 a0008c0013 a0016c0032 a0025c0019	a0002c0003t0002 a0002c0005t0002 a0002c0006t0002 others(5): Show a0002c0003t0002 a0002c0005t0002 a0002c0006t0002 a0002c0009t0002 a0002c0009t0005 a0008c0013t0002 a0016c0032t0002 a0025c0019t0001	a0002c0003t0002g0001 a0002c0003t0002g0033 a0002c0003t0002g0037 others(32): Show a0002c0003t0002g0001 a0002c0003t0002g0033 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0050 a0002c0003t0002g0052 a0002c0003t0002g0055 a0002c0003t0002g0059 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0005t0002g0201 a0002c0005t0002g0202 a0002c0005t0002g0203 a0002c0006t0002g0032 a0002c0006t0002g0041 a0002c0006t0002g0047 a0002c0006t0002g0048 a0002c0006t0002g0049 a0002c0006t0002g0051 a0002c0006t0002g0053 a0002c0006t0002g0060 a0002c0009t0002g0025 a0002c0009t0002g0026 a0002c0009t0005g0024 a0008c0013t0002g0056 a0008c0013t0002g0057 a0008c0013t0002g0058 a0016c0032t0002g0054 a0025c0019t0001g0008	36	252	0.1429	618	c.245 others(637): Show c.2455+3194_2455+3195insTGTATCCACCCACCCATCCATCCATC TACCATCCATCCACCCACCCATCCATCCATCCATCTACCCATCTACCCAC CCACCCATCCATCCATCCACTATCCACCCACCCATCCATCCACCCACCTA TCTATTCATCCATCCATCCATCCGTCTAACCATCCAACCACTTATCCCCC CCACCCATCCATCTATCCATCCACCCATCTACCCACCCACCCATCCATCC ACCCACCCACCCATCCATCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCATCCATCCACCCACCTATCTATCCTTCCATCCATCCATCCACCC ACCCATCCATGTATTCATCCACCCGTCCATCTGTCCACCCACCCAACCAT CCATCCATCTACCCATCCACCCACCCATTCATCTATCTGCCCACCCATCC ATCTATCCATCTACCCACCCACCCATCCATCCATCCATCTACCATTCACC CACCCATCCATCCACCCACCTATCTATCCATCCATCCACCCACCCATTCA TCATTTCACCCACCCACGCATCCATGTATCCATCCACCCATCCATCCACC CACCCACCCAACCATCCATCCATCCATCTACCCATCCACCCA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(611): Show TCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCT CACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCC ACAGCCCACCTTCCTGTCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	284	0.0035	618	c.411 others(635): Show c.4112+679_4112+680insGGACAGGAAGGTGGGCTGTGGCAGGTGA GGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC AGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCCGCCA others(611): Show ACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTC ACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCA CAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCAC CTGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCCAT CCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCT TCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGC TCACCTTCCTGCCCCCTCG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	284	0.0035	618	c.411 others(635): Show c.4112+674_4112+675insCGAGGGGGCAGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGG TGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATG GGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTG AGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGG CGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAG CTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGA TGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCT GGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTG AGCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(611): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCC TTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	256	0.0039	618	c.-45 others(639): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCT CTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(611): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCC TCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTT CCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTT CCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCC TTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCC TCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0003 a0002c0001t0002g0003	1	354	0.0028	618	c.69 others(629): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCCTCC CTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTC CCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCC CTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTC CTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCT TCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCT CCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCC TTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CKLF_chr16_66547576_66571068	66571016	C C	CCTTATAG others(611): Show CCTTATAGAACATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAG GGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCAT GCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCC AATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTG ATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTAT GAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGA GAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCA TCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTT CTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTG CTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAG CAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGG GTCAAATGGTATTTCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	392	0.0026	618	c.50 others(629): Show c.5005_*5006insCTTATAGAACATTTTTCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTA TACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATAT GTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGC ATTAGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCAC AGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGT TCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTT GCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACA AAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTA TATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTT GGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTG CATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAG TAATGGGATGGCTGGGTCAAATGGTATTTCTAGA	CKLF	ENSG00000217555.13	transcript	ENST00000264001.9	protein_coding		4949		chr16	TogoVar
CMTM1_chr16_66561439_66584135	66571016	C C	CCTTATAG others(611): Show CCTTATAGAACATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAG GGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCAT GCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCC AATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTG ATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTAT GAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGA GAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCA TCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTT CTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTG CTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAG CAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGG GTCAAATGGTATTTCTAGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	398	0.0025	618	c.591 others(633): Show c.591+940_591+941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTA GGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCA TGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCC CAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGT GATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTA TGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTG AGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTC ATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTT TCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTT GCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATA GCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTG GGTCAAATGGTATTTCTAGACTTATAGAACATTTTTCT	CMTM1	ENSG00000089505.18	transcript	ENST00000379500.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(611): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAATTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATTTATATATAATTTTATATATAAATATATATAATTATATAT ATTTGTATAAATATAATTTTATATATAAATATATATAATTTTATATATAT ATAATTATATATAAATATATATAATTATATATAATATATATAATTTTATA TATAATATATATAATTTTATATATAATATATATAATTTTATATATTATAT ATAAATATATATATAATTTATATATAAATATATATAATTTATATATATTT ATATATAATTATATATAAATATATATAATTATATATAAATATATATAATT ATATATATTTATTTATATAAATTTTATATATTTATATAAATAAATATATA TTTATATATAAAAATTTATATACAAATATATATATAAATATATACAAATA TATATAAATTTATATAAAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0013 a0001c0002t0012g0013	1	116	0.0086	618	c.56- others(635): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAATTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATTTATATATAATTTTATATA TAAATATATATAATTATATATATTTGTATAAATATAATTTTATATATAAA TATATATAATTTTATATATATATAATTATATATAAATATATATAATTATA TATAATATATATAATTTTATATATAATATATATAATTTTATATATAATAT ATATAATTTTATATATTATATATAAATATATATATAATTTATATATAAAT ATATATAATTTATATATATTTATATATAATTATATATAAATATATATAAT TATATATAAATATATATAATTATATATATTTATTTATATAAATTTTATAT ATTTATATAAATAAATATATATTTATATATAAAAATTTATATACAAATAT ATATATAAATATATACAAATATATATAAATTTATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(611): Show AATAAATATATATAAATATATAAATATAAATATATATATAAATATGTAAT TCTAAATATATATGTAAATATATATAAATATATATATATTTATAAATATA TAAATATATATATTTATAAATATATAAATATATATATATTTATAAATATA TAAATATATATAAAAATATATATAAATATATAAAAAAATATAAATATATA TAAATATATAAATATATGTAAATATATATAAATATATATATAAATATATA TATAAATATATATATAAATATATATATATAAATATATATAAATATATAAC TATATAAATAAATATATATAAATATATAAATATATAAAAATATATATAAA TATATATGTAAATATATAAATATATATAAATATATATAAATATATATAAG TATATAAATATATATAAATATATATAAGTATATAAATATATATATAAATA TATATAAGTATATAAATATATATATAAATATATATAAGTATATAAATATA TATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTATA TATAAATATATATAAATATATATAAGTATATATAAATATATAAAAATATA TATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03471.hp2 NA19043.hp1 HG02615.hp1 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0012 a0001c0001t0011 a0001c0001t0012	a0001c0001t0011g0025 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0011g0025 a0001c0001t0012g0002 a0001c0001t0012g0003	3	264	0.0114	618	c.181 others(637): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATTTACATATATTTATATATTTATATATAT TTATATTTTTTTATATATTTATATATATTTTTATATATATTTATATATTT ATAAATATATATATATTTATATATTTATAAATATATATATTTATATATTT ATAAATATATATATATTTATATATATTTACATATATATTTAGAATTACAT ATTTATATATATATTTATATTTATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(611): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGG GAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAG GGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAAGGGGG AGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0078 a0001c0001t0031g0078	1	216	0.0046	618	c.923 others(637): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTC CCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCC CTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCAT TCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(611): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCGCACCGGCACCCCCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCAC CCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCC CCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTC ACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCAC CCTCACCCGCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCC TCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0208 a0010c0013t0001g0208	1	320	0.0031	618	c.39 others(629): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGAG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTG GGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DNAH5_chr5_13685328_13949688	13827485	A A	ACAGGAGC others(611): Show ACAGGAGCCAGCATATAGCTCAGGCCATTGCTTCAAAGGGTGCAAGCCCC AAGCTCTGACAGTTTCCACATGGTGCTGGGCCTGCAGGTGTGCAGAAGAC AAGAATTGAGGTTTGGGAACCTCCACCTAGATTTCAGAGGATGTATGGAA ACACCAAGATGTCCAGGCAGAAGTTTCCTGCGTGGGTGGAGCCCTCATGG AGAACCTCTGCTAGAGCAGTGCAGAAGGGAATGTGGGATTGGAGCCCCCA CACAGAGTCCCCACTGAGACACTGCCTAATGGAGCTGTGAGAAAAGGACC ACCATCCTTCAGATGCCAGAATGGTAGATCCACTGACAGCTTGTACTGTG CACCTAGAAAAGCCACAGACACTCAACATCAGGCCATGAAAGCAGCCAGG AGCGTGGCTGTACCCTGAAAAGCCACAGGCGTGGAGCTGCCCAAGGCTTT AGGAGCCCACCTCTTGCATCAGCAGGTCTGGATGTGAGACATGGAGTCAA AGCAGATCATTTTGGAAATTTAAGGTTTAATTACTGCCTTATTGAATTTT GGACTTGCATGAGGCCTGTAGCCTCTTTGTTTTGGCCAATTTCTCCCATT TGGAACAGGTATATTTACC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(54): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01934.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02965.hp1 HG03017.hp2 HG03486.hp1 HG03516.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18945.hp1 NA18949.hp1 NA18955.hp1 NA18956.hp1 NA18970.hp1 NA18990.hp2 NA19006.hp2 NA19062.hp1 NA19068.hp1 NA19078.hp2	a0002 a0006 a0007 others(36): Show a0002 a0006 a0007 a0008 a0009 a0016 a0017 a0021 a0022 a0030 a0031 a0032 a0040 a0044 a0048 a0051 a0054 a0055 a0056 a0060 a0062 a0063 a0068 a0069 a0076 a0078 a0086 a0088 a0089 a0114 a0115 a0122 a0123 a0124 a0125 a0126 a0137 a0138 a0139	a0002c0180 a0006c0003 a0006c0041 others(45): Show a0002c0180 a0006c0003 a0006c0041 a0006c0093 a0007c0070 a0008c0026 a0008c0056 a0009c0007 a0016c0200 a0017c0008 a0021c0040 a0021c0087 a0021c0092 a0022c0020 a0022c0091 a0030c0021 a0031c0088 a0031c0094 a0032c0023 a0040c0153 a0040c0155 a0044c0169 a0044c0181 a0048c0201 a0051c0203 a0054c0204 a0055c0205 a0056c0206 a0060c0039 a0062c0125 a0063c0074 a0068c0095 a0069c0086 a0076c0100 a0078c0104 a0086c0110 a0088c0044 a0089c0049 a0114c0185 a0115c0134 a0122c0157 a0123c0154 a0124c0152 a0125c0156 a0126c0151 a0137c0182 a0138c0168 a0139c0167	a0002c0180t0012 a0006c0003t0002 a0006c0041t0002 others(45): Show a0002c0180t0012 a0006c0003t0002 a0006c0041t0002 a0006c0093t0002 a0007c0070t0003 a0008c0026t0002 a0008c0056t0003 a0009c0007t0002 a0016c0200t0016 a0017c0008t0002 a0021c0040t0001 a0021c0087t0001 a0021c0092t0001 a0022c0020t0001 a0022c0091t0001 a0030c0021t0002 a0031c0088t0008 a0031c0094t0008 a0032c0023t0002 a0040c0153t0001 a0040c0155t0009 a0044c0169t0001 a0044c0181t0001 a0048c0201t0001 a0051c0203t0002 a0054c0204t0009 a0055c0205t0001 a0056c0206t0002 a0060c0039t0007 a0062c0125t0004 a0063c0074t0002 a0068c0095t0001 a0069c0086t0002 a0076c0100t0002 a0078c0104t0002 a0086c0110t0002 a0088c0044t0003 a0089c0049t0003 a0114c0185t0001 a0115c0134t0001 a0122c0157t0002 a0123c0154t0001 a0124c0152t0002 a0125c0156t0002 a0126c0151t0002 a0137c0182t0001 a0138c0168t0024 a0139c0167t0021	a0002c0180t0012g0167 a0006c0003t0002g0040 a0006c0003t0002g0070 others(54): Show a0002c0180t0012g0167 a0006c0003t0002g0040 a0006c0003t0002g0070 a0006c0003t0002g0083 a0006c0041t0002g0038 a0006c0093t0002g0049 a0007c0070t0003g0237 a0008c0026t0002g0036 a0008c0026t0002g0053 a0008c0056t0003g0250 a0009c0007t0002g0126 a0009c0007t0002g0165 a0009c0007t0002g0180 a0016c0200t0016g0217 a0017c0008t0002g0214 a0017c0008t0002g0215 a0017c0008t0002g0216 a0021c0040t0001g0044 a0021c0087t0001g0066 a0021c0092t0001g0106 a0022c0020t0001g0067 a0022c0020t0001g0109 a0022c0091t0001g0050 a0030c0021t0002g0207 a0031c0088t0008g0032 a0031c0094t0008g0043 a0032c0023t0002g0039 a0032c0023t0002g0074 a0040c0153t0001g0205 a0040c0155t0009g0204 a0044c0169t0001g0196 a0044c0181t0001g0172 a0048c0201t0001g0210 a0051c0203t0002g0230 a0054c0204t0009g0226 a0055c0205t0001g0225 a0056c0206t0002g0229 a0060c0039t0007g0005 a0062c0125t0004g0247 a0063c0074t0002g0056 a0068c0095t0001g0087 a0069c0086t0002g0065 a0076c0100t0002g0075 a0078c0104t0002g0031 a0086c0110t0002g0030 a0088c0044t0003g0249 a0089c0049t0003g0238 a0114c0185t0001g0128 a0115c0134t0001g0161 a0122c0157t0002g0133 a0123c0154t0001g0202 a0124c0152t0002g0131 a0125c0156t0002g0203 a0126c0151t0002g0187 a0137c0182t0001g0166 a0138c0168t0024g0234 a0139c0167t0021g0116	57	252	0.2262	618	c.644 others(637): Show c.6444+2024_6444+2025insGGTAAATATACCTGTTCCAAATGGGA GAAATTGGCCAAAACAAAGAGGCTACAGGCCTCATGCAAGTCCAAAATTC AATAAGGCAGTAATTAAACCTTAAATTTCCAAAATGATCTGCTTTGACTC CATGTCTCACATCCAGACCTGCTGATGCAAGAGGTGGGCTCCTAAAGCCT TGGGCAGCTCCACGCCTGTGGCTTTTCAGGGTACAGCCACGCTCCTGGCT GCTTTCATGGCCTGATGTTGAGTGTCTGTGGCTTTTCTAGGTGCACAGTA CAAGCTGTCAGTGGATCTACCATTCTGGCATCTGAAGGATGGTGGTCCTT TTCTCACAGCTCCATTAGGCAGTGTCTCAGTGGGGACTCTGTGTGGGGGC TCCAATCCCACATTCCCTTCTGCACTGCTCTAGCAGAGGTTCTCCATGAG GGCTCCACCCACGCAGGAAACTTCTGCCTGGACATCTTGGTGTTTCCATA CATCCTCTGAAATCTAGGTGGAGGTTCCCAAACCTCAATTCTTGTCTTCT GCACACCTGCAGGCCCAGCACCATGTGGAAACTGTCAGAGCTTGGGGCTT GCACCCTTTGAAGCAATGGCCTGAGCTATATGCTGGCTCCTG	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	38/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13827485	A A	ACAGGAGC others(611): Show ACAGGAGCCAGCATATAGCTCAGGCCATTGCTTCAAAGGGTGCAAGCCCC AAGCTCTGACAGTTTCCACATGGTGCTGGGCCTGCAGGTGTGCAGAAGAC AAGAATTGAGGTTTGGGAACCTCCACCTAGATTTCAGAGGATGTATGGAA ACACCAAGATGTCCAGGCAGAAGTTTCCTGCGTGGGTGGAGCCCTCATGG AGAACCTCTGCTAGAGCAGTGCAGAAGGGAATGTGGGATTGGAGCCCCCA CACAGAGTCCCCGCTGAGACACTGCCTAATGGAGCTGTGAGAAAAGGACC ACCATCCTTCAGATGCCAGAATGGTAGATCCACTGACAGCTTGTACTGTG CACCTAGAAAAGCCACAGACACTCAACATCAGGCCATGAAAGCAGCCAGG AGCGTGGCTGTACCCTGAAAAGCCACAGGCGTGGAGCTGCCCAAGGCTTT AGGAGCCCACCTCTTGCATCAGCAGGTCTGGATGTGAGACATGGAGTCAA AGCAGATCATTTTGGAAATTTAAGGTTTAATTACTGCCTTATTGAATTTT GGACTTGCATGAGGCCTGTAGCCTCTTTGTTTTGGCCAATTTCTCCCATT TGGAACAGGTATATTTACC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0030 a0030	a0030c0021 a0030c0021	a0030c0021t0002 a0030c0021t0002	a0030c0021t0002g0051 a0030c0021t0002g0051	1	252	0.0040	618	c.644 others(637): Show c.6444+2024_6444+2025insGGTAAATATACCTGTTCCAAATGGGA GAAATTGGCCAAAACAAAGAGGCTACAGGCCTCATGCAAGTCCAAAATTC AATAAGGCAGTAATTAAACCTTAAATTTCCAAAATGATCTGCTTTGACTC CATGTCTCACATCCAGACCTGCTGATGCAAGAGGTGGGCTCCTAAAGCCT TGGGCAGCTCCACGCCTGTGGCTTTTCAGGGTACAGCCACGCTCCTGGCT GCTTTCATGGCCTGATGTTGAGTGTCTGTGGCTTTTCTAGGTGCACAGTA CAAGCTGTCAGTGGATCTACCATTCTGGCATCTGAAGGATGGTGGTCCTT TTCTCACAGCTCCATTAGGCAGTGTCTCAGCGGGGACTCTGTGTGGGGGC TCCAATCCCACATTCCCTTCTGCACTGCTCTAGCAGAGGTTCTCCATGAG GGCTCCACCCACGCAGGAAACTTCTGCCTGGACATCTTGGTGTTTCCATA CATCCTCTGAAATCTAGGTGGAGGTTCCCAAACCTCAATTCTTGTCTTCT GCACACCTGCAGGCCCAGCACCATGTGGAAACTGTCAGAGCTTGGGGCTT GCACCCTTTGAAGCAATGGCCTGAGCTATATGCTGGCTCCTG	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	38/78			chr5	TogoVar
EHMT1_chr9_137614005_137841127	137716361	G G	GTGTTGGT others(611): Show GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTG TGTTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0008 a0001c0014t0001g0008	1	170	0.0059	618	c.86- others(631): Show c.86-263_86-262insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAA GTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGG TGGGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGG TGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137721354	C C	CCAGACTT others(611): Show CCAGACTTCTCACACTCACCCCTCCCAGACTTCTCACACTCGCCCCCTCC CAGACTTCTCACACTCACCCCTCCCAGACTTCTCACACTCACCCCCTCCC AGACTTCTCACACTCACCCCTCCCAGACTTCTCACACTCACCCCCTCCCA GACTTCTCACACTCACCCCCTCCCAGACTTCTCACACTCACTCCTCCCAG ACTTCTCACACTCACCCCCTCCCAGACTTCTCACACTCACCCCACCCAGA CTTCTCATACTCACCCCCCCAGACTTCTCACACTCACCCCTCCCAGACTT CTCACACTCACTCCTCCCAGACTTCTCACACTCGCCCCCTCCCAGACTTC TCACACTCACCCCCACCCAGACTTCTCACACTCACCCCTCCCAGACTTCT CACACTCACCCCCCCAGACTTCTCACACTCACCCCCTCCCACGCCTCTCA CCCCCTCCCAAGCCTCTCACCCCCTCCCACGCCTCTCACCCCCTCCCGCG CCTCTCACCCCCTCCCATGCCTCTCACCCTCACCCCCTCCCAAGCCCTCA CCCCCTCCCACGCCTCTCACCCCCTCCCAAGCCTCTCACCCCCTCCCACG CCTCTCACCCCCTCCCACG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	170	0.0059	618	c.642 others(635): Show c.642+4173_642+4174insAGACTTCTCACACTCACCCCTCCCAGAC TTCTCACACTCGCCCCCTCCCAGACTTCTCACACTCACCCCTCCCAGACT TCTCACACTCACCCCCTCCCAGACTTCTCACACTCACCCCTCCCAGACTT CTCACACTCACCCCCTCCCAGACTTCTCACACTCACCCCCTCCCAGACTT CTCACACTCACTCCTCCCAGACTTCTCACACTCACCCCCTCCCAGACTTC TCACACTCACCCCACCCAGACTTCTCATACTCACCCCCCCAGACTTCTCA CACTCACCCCTCCCAGACTTCTCACACTCACTCCTCCCAGACTTCTCACA CTCGCCCCCTCCCAGACTTCTCACACTCACCCCCACCCAGACTTCTCACA CTCACCCCTCCCAGACTTCTCACACTCACCCCCCCAGACTTCTCACACTC ACCCCCTCCCACGCCTCTCACCCCCTCCCAAGCCTCTCACCCCCTCCCAC GCCTCTCACCCCCTCCCGCGCCTCTCACCCCCTCCCATGCCTCTCACCCT CACCCCCTCCCAAGCCCTCACCCCCTCCCACGCCTCTCACCCCCTCCCAA GCCTCTCACCCCCTCCCACGCCTCTCACCCCCTCCCACGC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EML1_chr14_99788413_99947060	99927955	A A	AGGTGGTG others(611): Show AGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0100 a0003c0002t0001g0100	1	288	0.0035	618	c.190 others(637): Show c.1909+7094_1909+7095insGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(611): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGAGTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0143 a0002c0019t0001g0143	1	306	0.0033	618	c.953 others(633): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTTTTATTTATTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTACTCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(611): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(42): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01123.hp1 HG01884.hp2 HG02040.hp1 HG02056.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp2 HG02523.hp1 HG02602.hp2 HG02735.hp1 HG03225.hp1 HG03669.hp1 HG03688.hp2 HG04115.hp2 HG04184.hp2 HG06807.hp2 NA18612.hp1 NA18952.hp1 NA18956.hp1 NA18963.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp2 NA18985.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp2 NA19010.hp2 NA19012.hp2 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(10): Show a0001 a0003 a0004 a0005 a0006 a0008 a0009 a0012 a0013 a0015 a0026 a0031 a0038	a0001c0001 a0003c0015 a0003c0018 others(11): Show a0001c0001 a0003c0015 a0003c0018 a0004c0025 a0005c0006 a0006c0009 a0008c0014 a0009c0016 a0012c0024 a0013c0039 a0015c0038 a0026c0051 a0031c0053 a0038c0047	a0001c0001t0002 a0003c0015t0004 a0003c0018t0003 others(13): Show a0001c0001t0002 a0003c0015t0004 a0003c0018t0003 a0004c0025t0001 a0004c0025t0003 a0005c0006t0001 a0006c0009t0005 a0008c0014t0001 a0008c0014t0013 a0009c0016t0003 a0012c0024t0007 a0013c0039t0001 a0015c0038t0005 a0026c0051t0002 a0031c0053t0001 a0038c0047t0006	a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0092 others(42): Show a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0145 a0003c0015t0004g0040 a0003c0015t0004g0088 a0003c0015t0004g0089 a0003c0015t0004g0123 a0003c0015t0004g0124 a0003c0018t0003g0091 a0003c0018t0003g0114 a0003c0018t0003g0117 a0004c0025t0001g0108 a0004c0025t0003g0115 a0004c0025t0003g0126 a0005c0006t0001g0080 a0005c0006t0001g0093 a0005c0006t0001g0118 a0005c0006t0001g0119 a0005c0006t0001g0125 a0005c0006t0001g0294 a0006c0009t0005g0097 a0006c0009t0005g0106 a0006c0009t0005g0107 a0008c0014t0001g0095 a0008c0014t0001g0096 a0008c0014t0001g0116 a0008c0014t0001g0144 a0008c0014t0013g0132 a0009c0016t0003g0071 a0012c0024t0007g0072 a0013c0039t0001g0139 a0015c0038t0005g0112 a0026c0051t0002g0109 a0031c0053t0001g0099 a0038c0047t0006g0057	45	306	0.1471	618	c.953 others(633): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTTTTATTTATTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(611): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01346.hp2 HG01361.hp1 others(11): Show HG01243.hp2 HG01346.hp2 HG01361.hp1 HG02055.hp2 HG02723.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03453.hp1 HG03486.hp2 HG03688.hp1 NA19043.hp1 NA20752.hp1	a0002 a0007 a0009 others(5): Show a0002 a0007 a0009 a0010 a0012 a0014 a0030 a0041	a0002c0019 a0007c0013 a0009c0016 others(6): Show a0002c0019 a0007c0013 a0009c0016 a0009c0030 a0010c0012 a0012c0024 a0014c0031 a0030c0055 a0041c0045	a0002c0019t0018 a0007c0013t0002 a0009c0016t0003 others(7): Show a0002c0019t0018 a0007c0013t0002 a0009c0016t0003 a0009c0030t0001 a0009c0030t0006 a0010c0012t0002 a0012c0024t0007 a0014c0031t0001 a0030c0055t0011 a0041c0045t0005	a0002c0019t0018g0121 a0007c0013t0002g0077 a0009c0016t0003g0051 others(11): Show a0002c0019t0018g0121 a0007c0013t0002g0077 a0009c0016t0003g0051 a0009c0030t0001g0038 a0009c0030t0006g0074 a0010c0012t0002g0050 a0010c0012t0002g0061 a0010c0012t0002g0063 a0010c0012t0002g0064 a0012c0024t0007g0047 a0014c0031t0001g0035 a0014c0031t0001g0052 a0030c0055t0011g0076 a0041c0045t0005g0075	14	306	0.0458	618	c.953 others(633): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTATTTATTTATTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(611): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAATAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01071.hp2 others(4): Show HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01433.hp2 HG03516.hp1 NA20129.hp2	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0010	a0003c0018 a0005c0054 a0006c0009 others(1): Show a0003c0018 a0005c0054 a0006c0009 a0010c0012	a0003c0018t0003 a0005c0054t0001 a0006c0009t0005 others(1): Show a0003c0018t0003 a0005c0054t0001 a0006c0009t0005 a0010c0012t0002	a0003c0018t0003g0026 a0003c0018t0003g0048 a0005c0054t0001g0054 others(4): Show a0003c0018t0003g0026 a0003c0018t0003g0048 a0005c0054t0001g0054 a0006c0009t0005g0055 a0006c0009t0005g0078 a0006c0009t0005g0079 a0010c0012t0002g0062	7	306	0.0229	618	c.953 others(633): Show c.953-287_953-286insTTTTTTTTTTTTTATTTATTTATTTATTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(611): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAATAAATAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0053 a0002c0019t0001g0053	1	306	0.0033	618	c.953 others(633): Show c.953-287_953-286insTTTTTTTTTATTTATTTATTTATTTATTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(611): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGTGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0017 a0017	a0017c0037 a0017c0037	a0017c0037t0003 a0017c0037t0003	a0017c0037t0003g0045 a0017c0037t0003g0045	1	306	0.0033	618	c.953 others(633): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTATTTATTTATTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCACTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399225	A A	ACCACCGC others(611): Show ACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCATCACCATCACCGCCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACC ACCACCACCGCCACCACCACCACCATCACCGCCACCACCATCACCATCAC CACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACC ACCGCCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCGCCACCACCATCA CCATCATCACCACCACCACCACCATCACCACCACCACCACCACCACCGCC ACCACCACCACCATCACCG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	314	0.0032	618	c.-25 others(635): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCGCCACCACCATCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCA CCATCACCGCCACCACCATCACCACCACCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCACCACCACCACCACCACCACCATCACCAT CATCACCACCACCACCACCACCACCGCCACCACCACCACCATCACCGCCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCACCACCATC ACCATCATCACCACCACCACCACCACCACCACCACCATCACCATCATCAC CACCACCACCACCACCACCGCCACCACCACCACCATCACCGCCACCACCA TCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCGCCACCACCATCACCATCATCACCACCACCACCACCATCACCACCAC CACCACCACCACCGCCACCACCACCACCATCACCGCCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399262	T T	TCACCATC others(611): Show TCACCATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCC ACCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCAC CACCATCACCATCACCACCACCACCACCACCACCACCATCACCATCATCA CCACCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCAC CACCACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCA CCACCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATC ACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCAC CACCATCACCATCATCACCGCCACCACCACCACCATCACCATCATCACCG CCGCCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACC ATCACCACCACAACCACCACCACCACCACCATCACCACCACTACCACCAC CACCACCACCATCACCACCACCACTACCATCATCACCACCACCACCACCA CCACCACCATCACCATCAC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	314	0.0032	618	c.-25 others(635): Show c.-25+2347_-25+2348insTCATCACCGCCACCACCACCACCACCAC CGCCGCCGCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ACCATCACCATCATCACCACCACCATCACCATCACCACCACCACCACCAC CACCACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCA CCATCACCATCATCACCACCACCACCACCACCACCACCATCACCATCATC ACCGCCACCACCACCACCACCATCACCATCATCACCACCACCACCACCAC CACCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATCA CCACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACC ATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCATCACCGC CACCACCACCACCACCATCACCACCACAACCACCACCACCACCACCATCA CCACCACTACCACCACCACCACCACCATCACCACCACCACTACCATCATC ACCACCACCACCACCACCACCACCATCACCATCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399262	T T	TCACCATC others(611): Show TCACCATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCC ACCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCAC CACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCAC CACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCA CCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATCACC ACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCAT CACCATCATCACCGCCACCACCACCACCACCATCACCATCATCACCGCCA CCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACC ATCATCACCGCCACCACCACCACCACCATCACCACCACAACCACCACCAC CACCACCATCACCACCACTACCACCACCACCACCACCATCACCACCACCA CTACCATCATCACCACCAC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	314	0.0032	618	c.-25 others(635): Show c.-25+2347_-25+2348insTCATCACCGCCACCACCACCACCACCAC CGCCGCCGCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCA TCACCATCATCACCACCACCACCACCACCACCACCATCACCATCATCACC GCCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CATCACCATCATCACCACCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCATC ACCATCATCACCGCCACCACCACCACCATCACCATCATCACCGCCGCCAC CACCACCACCATCACCATCATCACCGCCACCACCACCACCACCATCACCA CCACAACCACCACCACCACCACCATCACCACCACTACCACCACCACCACC ACCATCACCACCACCACTACCATCATCACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HRH3_chr20_62209960_62225278	62213280	G G	GGGGAGGG others(611): Show GGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAAGGATGGGGGGGAAG GAGAGTGGGGATGGGTGGGGGAAGGAGAGTGGGGATGGGGGAAGGGAGAG CAGGGATGGGGGGGAAGGAGAGCGGGGATGGGTGGGGGAAGGAGAGCGGG GATGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAAGGATGGGGGG GAAGGAGAGTGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGAAGGG AGAGCAGGGATGGGGGGGAAGGAGAGTGGGGATGGGTGGGGGAAGGAGAG CGGGGATGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAAGGATGG GGGGGAAGGAGAGTGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGA AGGGAGAGCAGGGATGGGGGGGAAGGAGAGTGGGGATGGGTGGGGGAAGG AGAGCGGGGATGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAAGG ATGGGGGGGAAGGAGAGCGGGGATGGGTGGGGGAAGGAGAGCGGGGATGG GTGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGATGGGGGGG AAGGAGAGCGGGGATGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	368	0.0027	618	c.27 others(629): Show c.2725_*2726insACCCATCCCCGCTCTCCTTCCCCCCCATCCCTGC TCTCCCTTCCCCCATCCCCGCTCTCCCTCCCCCACCCATCCCCGCTCTCC TTCCCCCACCCATCCCCGCTCTCCTTCCCCCCCATCCTTGCTCTCCCTTC CCCCATCCCCGCTCTCCCTCCCCCATCCCCGCTCTCCTTCCCCCACCCAT CCCCACTCTCCTTCCCCCCCATCCCTGCTCTCCCTTCCCCCATCCCCGCT CTCCTTCCCCCACCCATCCCCACTCTCCTTCCCCCCCATCCTTGCTCTCC CTTCCCCCATCCCCGCTCTCCCTCCCCCATCCCCGCTCTCCTTCCCCCAC CCATCCCCACTCTCCTTCCCCCCCATCCCTGCTCTCCCTTCCCCCATCCC CGCTCTCCTTCCCCCACCCATCCCCACTCTCCTTCCCCCCCATCCTTGCT CTCCCTTCCCCCATCCCCGCTCTCCCTCCCCCATCCCCGCTCTCCTTCCC CCACCCATCCCCGCTCTCCTTCCCCCCCATCCCTGCTCTCCCTTCCCCCA TCCCCACTCTCCTTCCCCCACCCATCCCCACTCTCCTTCCCCCCCATCCT TGCTCTCCCTTCCCCCATCCCCGCTCTCCCTCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1679		chr20	TogoVar
ICA1_chr7_8108184_8267167	8152796	T T	TCCACCAC others(611): Show TCCACCACCACCACCACCACCACCACCATCTCCTTCAACACCACTACCCC CACCACTACCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCA CTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACCATC TCCTTCATCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCAC TACCACCATCTCCTCCACCACCACTACCCCCACCACTATCACCATCACCA TCACCTCCACCACCACCACCATCTCCTTCAACACCACTACCCCCAGCACT ACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTAC CACCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCT TCAACACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACC ACCATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCAT CACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCA CCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACC ATCACCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01891.hp2 HG01257.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0179 a0001c0001t0002g0229 a0001c0001t0001g0179 a0001c0001t0002g0229	2	274	0.0073	618	c.804 others(635): Show c.804+4319_804+4320insTGATGGTGGAGGAGGTGATGGTGATAGT GGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGA TGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAG ATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGT GGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGG TGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGTGGTAGTGGTG GTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGG GGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGG TGATAGTGGTGGGGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAA GAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGATGAAGGAGATGGTGGT GGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGA AGGAGATGGTGGTGGTGGTGGAGGTGATGGTGGTAGTGGTGGGGGTAGTG GTGTTGAAGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
INSR_chr19_7107265_7299414	7153470	A A	ACACACAC others(611): Show ACACACACCATACACGCACCACACACACACTACATGCACACCTCACACAC CACACCACACACCGCACACACACCACACAAATCACACACACACCACACAC ACCCACGCCACACACCACAGACCACACACACCACACACCCCACACACACC ACACACCACACACACCAAACACACCATACATGCACCACACAACCACATGC ACACCTCACACACCATACCACACACCACACACACCACACAAATCACACAC ATACTACACACACCCACGCCACACACCACACACACACCACACACGCCACA CAACGGACCACACATACACCACACACCACAAACACAACCACACACACACT ATACACACACACCACACACACCACACAACAGACCACACATACACACACCA CACACCACACACACCATACACACACACCACACATACCACACACACCACAC ACACAACCACACACACACACCACACAACAGACCACACATACACACACCAC AAACACAACCACACACACCACACCATACACACACACCATACACGCACCAC ACACACACCACATACACACTTCACACACACCACACACCACACAAATCACA CACACCACCACACCCACGC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG04199.hp1 HG03492.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0161 a0001c0001t0004 a0001c0003t0161	a0001c0001t0004g0215 a0001c0003t0161g0292 a0001c0001t0004g0215 a0001c0003t0161g0292	2	300	0.0067	618	c.203 others(635): Show c.2030-544_2030-543insGCGTGGGTGTGGTGGTGTGTGTGATTTG TGTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGGTGCGT GTATGGTGTGTGTGTATGGTGTGGTGTGTGTGGTTGTGTTTGTGGTGTGT GTATGTGTGGTCTGTTGTGTGGTGTGTGTGTGTGGTTGTGTGTGTGGTGT GTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGTGGTGTGTGGTGTGTG TATGTGTGGTCTGTTGTGTGGTGTGTGTGGTGTGTGTGTATAGTGTGTGT GTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTGGTCCGTTGTGTGGCGTG TGTGGTGTGTGTGTGGTGTGTGGCGTGGGTGTGTGTAGTATGTGTGTGAT TTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTGAGGTGTGCATGTGGT TGTGTGGTGCATGTATGGTGTGTTTGGTGTGTGTGGTGTGTGGTGTGTGT GGGGTGTGTGGTGTGTGTGGTCTGTGGTGTGTGGCGTGGGTGTGTGTGGT GTGTGTGTGATTTGTGTGGTGTGTGTGCGGTGTGTGGTGTGGTGTGTGAG GTGTGCATGTAGTGTGTGTGTGGTGCGTGTATGGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7153485	G G	GCACCACA others(611): Show GCACCACACACACACTACATGCACACCTCACACACCACACCACACACCGC ACACACACCACACAAATCACACACACACCACACACACCCACGCCACACAC CACAGACCACACACACCACACACCCCACACACACCACACACCACACACAC CAAACACACCATACATGCACCACACAACCACATGCACACCTCACACACCA TACCACACACCACACACACCACACAAATCACACACATACTACACACACCC ACGCCACACACCACACACACACCACACACGCCACACAACGGACCACACAT ACACCACACACCACAAACACAACCACACACACACTATACACACACACCAC ACACACCACACAACAGACCACACATACACACACCACACACCACACACACC ATACACACACACCACACATACCACACACACCACACACACAACCACACACA CACACCACACACACAACACACAACAGACCACACATACACACACCACAAAC ACAACCACACACACCACACCATACACACACACCATACACGCACCACACAC ACACCACATACACACTTCACACACACCACACACCACACAAATCACACACA CCACCACACCCACGCCACA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp2 HG02965.hp2 HG06807.hp2	a0001 a0001	a0001c0029 a0001c0040 a0001c0029 a0001c0040	a0001c0029t0004 a0001c0040t0129 a0001c0029t0004 a0001c0040t0129	a0001c0029t0004g0185 a0001c0040t0129g0204 a0001c0029t0004g0185 a0001c0040t0129g0204	2	300	0.0067	618	c.203 others(635): Show c.2030-559_2030-558insTGTGGCGTGGGTGTGGTGGTGTGTGTGA TTTGTGTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGGT GCGTGTATGGTGTGTGTGTATGGTGTGGTGTGTGTGGTTGTGTTTGTGGT GTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGTGTGG TTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGT GGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGTGTGT GTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTGGT CCGTTGTGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTGTGTG TAGTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTG AGGTGTGCATGTGGTTGTGTGGTGCATGTATGGTGTGTTTGGTGTGTGTG GTGTGTGGTGTGTGTGGGGTGTGTGGTGTGTGTGGTCTGTGGTGTGTGGC GTGGGTGTGTGTGGTGTGTGTGTGATTTGTGTGGTGTGTGTGCGGTGTGT GGTGTGGTGTGTGAGGTGTGCATGTAGTGTGTGTGTGGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
KIRREL3_chr11_126418358_127005770	126799415	C C	CATGTGTG others(611): Show CATGTGTGTATCTGTGTGTGCATATGTGTATCTGCATATGTGCATGTATC TATGTGTGCATGTGTGTGTCTGTGTGTGCATGTGCATGTATCTGTGCATG TGCATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATCT GGGTGTGTGCATGTGTGTGCATGTGTGTATCTGTGTGTGCATATGTGTAT CTGCATATGTGCATGTATCTATGTGTGCATGTGTGTGTCTGTGTGTGCAT GTGCATGTATCTGTGCATGTGCATGTATCTGTGCATGTGTGTATCTGTGT GCATGTGCACGTGGTATCTGGGTGTGTGCATGTGTGTGCATGTGTGTATC TGTGTGTGCATATGTGTATCTGTGTGTGCATGTGTGTATCTGTGTGTGTG CATGTGTATATCTGTGTGTGCATGTGCATATCTGTGTTGTGCATGTGTGT ATCTGTGTGTGTGCATGTGTGTATCTGTGTGTGCACGTGGTATCTGTGTG TGTGCATGTATCTGCGTGTGTGTATTCATGTGTGCATGTGTGTATCTGTG TGTACACATATCTGTGTGTGCATGTATCTGTGTGTGCGCATGTGTGTATC TGTGTTTGCATGTGTGTAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	114	0.0088	618	c.55+ others(637): Show c.55+201039_55+201040insATACACACATGCAAACACAGATACAC ACATGCGCACACACAGATACATGCACACACAGATATGTGTACACACAGAT ACACACATGCACACATGAATACACACACGCAGATACATGCACACACACAG ATACCACGTGCACACACAGATACACACATGCACACACACAGATACACACA TGCACAACACAGATATGCACATGCACACACAGATATACACATGCACACAC ACAGATACACACATGCACACACAGATACACATATGCACACACAGATACAC ACATGCACACACATGCACACACCCAGATACCACGTGCACATGCACACAGA TACACACATGCACAGATACATGCACATGCACAGATACATGCACATGCACA CACAGACACACACATGCACACATAGATACATGCACATATGCAGATACACA TATGCACACACAGATACACACATGCACACACATGCACACACCCAGATACC ACGTGCACATGCACACAGATACACACATGCACAGATACATGCACATGCAC AGATACATGCACATGCACACACAGACACACACATGCACACATAGATACAT GCACATATGCAGATACACATATGCACACACAGATACACACAT	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KREMEN1_chr22_29068035_29151820	29120188	A A	AGGAAACA others(611): Show AGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGG GAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGG AGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TAATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGG AGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGA GGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAA CAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGA TGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGG GAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGG AGGAGGGAGAGGTGATGAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0249 a0001c0001t0016g0257 a0001c0001t0016g0249 a0001c0001t0016g0257	2	368	0.0054	618	c.353 others(635): Show c.353-1058_353-1057insAGGAAACAGGGAGGAGGGAGAGGTGATG AAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAG GTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAG GGAGAGGTGATAATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACA GGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATG GAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTG ATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGA GAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAG GAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAA ATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATG AAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAG GTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAG GGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(611): Show GGAAAAAGGAAGGAAGGGAGGGAGGGAGGGGAGGGAAGGAAGGGAGGGGA GGGAGGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGA AGGGAGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGA AGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAG GAGGGAAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGA AGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGG GAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAG GGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGA AGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGG AAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAG AAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGA GGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGG AAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp2 NA18973.hp2 others(4): Show HG02647.hp2 HG02818.hp2 NA18973.hp2 NA18979.hp2 NA19060.hp1 NA19084.hp2 NA20129.hp2	a0001 a0007 a0008 others(3): Show a0001 a0007 a0008 a0009 a0013 a0033	a0001c0011 a0007c0046 a0007c0047 others(4): Show a0001c0011 a0007c0046 a0007c0047 a0008c0034 a0009c0064 a0013c0065 a0033c0058	a0001c0011t0001 a0007c0046t0001 a0007c0047t0006 others(4): Show a0001c0011t0001 a0007c0046t0001 a0007c0047t0006 a0008c0034t0002 a0009c0064t0004 a0013c0065t0004 a0033c0058t0009	a0001c0011t0001g0040 a0007c0046t0001g0066 a0007c0047t0006g0026 others(4): Show a0001c0011t0001g0040 a0007c0046t0001g0066 a0007c0047t0006g0026 a0008c0034t0002g0036 a0009c0064t0004g0076 a0013c0065t0004g0072 a0033c0058t0009g0004	7	88	0.0796	618	c.507 others(637): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGGAGGGAGGGAG GGGAGGGAAGGAAGGGAGGGGAGGGAGGAAAAAGGAAGGAAGGAAGGAGG GTAAGGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGA AGGGAGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGA GGGAAGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAAA GAAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGA ACAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGG AAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAG GGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGA GGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGA AGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGG AAGGAGGAAAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAA GGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATTTAT others(611): Show ATATTTATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATATATTTATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATTTATATATATATTTATATATATATTTATATATATATTTATATAT ATTTATATATATATATTTATATATATATATTTTTATATATATTTATATAT ATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTTATGT ATAGTTATATATAGTTATGTATAGTTATATATAGTTATATATATAGTTAT ATATAGTTATATATATATTTATATATATATATTTTTATATATATATTTAT ATATATATATTTTTATATATATATTTATATATATTTATATATATAAATAT ATATATATTTATATATATATTTATATATATAAATATATATATATTTATAT ATATATTTATATATATTTATATATATTTATATATATTTATATATTTATAT ATGTATTTATATATATTTATATATGTATTTATATATATTTATATATAATT ATATGTATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02897.hp1 HG02055.hp2 HG02897.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0010 a0003c0003t0002g0013 a0003c0003t0002g0010 a0003c0003t0002g0013	2	260	0.0077	618	c.125 others(635): Show c.125+9673_125+9674insTTATATATATTTATATATATTTATATAT ATATTTATATATATATTTATATATATATTTATATATATATTTATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATATATTTATATATATATATTT TTATATATATTTATATATATTTTTATATATAGTTATATATATTTATATAT AGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATAT AGTTATATATATAGTTATATATAGTTATATATATATTTATATATATATAT TTTTATATATATATTTATATATATATATTTTTATATATATATTTATATAT ATTTATATATATAAATATATATATATTTATATATATATTTATATATATAA ATATATATATATTTATATATATATTTATATATATTTATATATATTTATAT ATATTTATATATTTATATATGTATTTATATATATTTATATATGTATTTAT ATATATTTATATATAATTATATGTATTTATATATATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MEGF6_chr1_3482951_3616508	3502114	C C	CGAGTGTG others(611): Show CGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCC CCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGGCTCCTGGCGAGTG TGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCC TCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC CGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTC ACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCC CCCGTGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCT CACATGGGCTCCTGGCGAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0043 a0043	a0043c0024 a0043c0024	a0043c0024t0004 a0043c0024t0004	a0043c0024t0004g0020 a0043c0024t0004g0020	1	292	0.0034	618	c.218 others(635): Show c.2189-194_2189-193insCTCGCCAGGAGCCCATGTGAGGAGGCGC GGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCACGGGGGGCACACT CGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCG CGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCAC ACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGA GCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAG GAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCA GGAGCCCATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCC GGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MRPL28_chr16_361969_375538	370341	A A	ACCCCCCC others(611): Show ACCCCCCCCCGGCCCCGGCTCTCACCCGCTACCCTACCGGCCCCCCGGCT CTCACCCCGCTACCCCTGCCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCTCCTTACCCCGGCCCCCCGGCTCTCAACCCCGCTACCCCG GCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCCCGGCTCTCACCCGCTACCACCCCTGCCCCCGGCTCTCACC CCGCTACCCCTGCCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGCTCT CACCTCCTACCCCGCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCT CACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAACCCCGGCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCGGCCTCG GCTCTCACCCCCCTACCCCCGGCCCCGGCTCTCACCCCTACCCCTGCCCC CGGCTCTCACCCCCGCTAC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	394	0.0025	618	c.-7- others(631): Show c.-7-117_-7-116insGTAGCGGGGGTGAGAGCCGGGGGCAGGGGTAG GGGTGAGAGCCGGGGCCGGGGGTAGGGGGGTGAGAGCCGAGGCCGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGG GTTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGCGGGGTAGGAGGTGAGAGCGGGGGCCG GGGGTAGCGGGTGAGAGCCGGGGGGCAGGGGTAGCGGGGTGAGAGCCGGG GGCAGGGGTGGTAGCGGGTGAGAGCCGGGGGGCCGGGGTAGGAGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGG TTGAGAGCCGGGGGGCCGGGGTAAGGAGGTGAGAGCCGGGGGCCGGGGTA GGGGGTGAGAGCCGGGGGGCAGGGGTAGCGGGGTGAGAGCCGGGGGGCCG GTAGGGTAGCGGGTGAGAGCCGGGGCCGGGGGGGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MYNN_chr3_169768396_169794716	169771253	A A	ATTTATAT others(611): Show ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TGTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAAATATA AAAAATTATGTTTATATATCATAAATATAAAAAATTATGTTTATATATCA TAAATATAAAAAATTATGTTTATATATCATAAATATAAAAAATTATGTTT ATATATCATAAATATAAAAAATTATGTTTATATATCATAAATATATAAAA ATTTATGTTTATATATCATAAATATATAAAAATTTATGTTTATATATCAT AAATATATAAAAATTTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	350	0.0029	618	c.-22 others(629): Show c.-2241_-2240insTTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATGTTTATATATCATAAATATAAAAAATTATGTTTA TATATCATAAATATAAAAAATTATGTTTATATATCATAAATATAAAAAAT TATGTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAAATA TAAAAAATTATGTTTATATATCATAAATATAAAAAATTATGTTTATATAT CATAAATATATAAAAATTTATGTTTATATATCATAAATATATAAAAATTT ATGTTTATATATCATAAATATATAAAAATTTATG	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2142		chr3	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(611): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTTAAACTATA TAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATA GTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTAGTTTAT ATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATAT AGTTTAAAACTATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTT TTAAACTATATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATA GTTTTAAACTATATAAACTATAGTTTTAAACTATATAAACTATATAGTTT TAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAGTTTATG TAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGTA GTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTT AAACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAG TTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTAT ATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0159 a0002c0001t0001g0159	1	244	0.0041	618	c.342 others(637): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTAT ATAGTTTATATAGTTTAAAACTATAGTTTATATAGTTTAAAACTATATAG TTTATATAGTTTTAAACTATATAGTTTAAACTATATAGTTTAAAACTATA TAAACTATATAGTTTTAAACTATATAAACTATAGTTTTAAACTATATAAA CTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACT AGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAG TTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTT TAAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCTCCTCC others(611): Show TCTCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCT CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTTCCCTCTCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTTCCCTC TCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0178 a0001c0001t0066g0178	1	326	0.0031	618	c.433 others(635): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP205_chr7_135552917_135653753	135570756	T T	TTATATAT others(611): Show TTATATATTATATTAATATAATTAATTATATTTATATATTATATTAATAT ATATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATA TATTATATTAATATATATTAATTATATTAATATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTAATATATATTAATTATATTAATAT ATATTAATATATATTAATTATATTAATATATATTAATATAATTAATATAT ATTAATATATATTATATTAATATATATTATATTAATATATATTAATATAT ATTATATTAATATATATTATATTAATATATATTAATATATATTATATTAA TATATATTAATATATATTATATTAATATATATTAATATATATTATATTAA TATATATTATATTAATATATATTAATATATATTATATTAATATATATTAT ATTAATATATATTATATTAATATATATTAATATATATTATATTAATATAT ATTATATTAATATATATTAATATATATTATATTAATATATATTATATTAA TATATATTAATTATATTAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0019 a0002c0006t0001g0019	1	352	0.0028	618	c.29- others(631): Show c.29-330_29-329insATTAATTATATTTATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTAATATATATTATATTAATATATAT TAATTATATTTATATATTATATTAATATATATTAATTATATTTATATATT ATATTAATATATATTAATTATATTAATATATATTAATTATATTAATATAT ATTAATATATATTAATTATATTAATATATATTAATATAATTAATATATAT TAATATATATTATATTAATATATATTATATTAATATATATTAATATATAT TATATTAATATATATTATATTAATATATATTAATATATATTATATTAATA TATATTAATATATATTATATTAATATATATTAATATATATTATATTAATA TATATTATATTAATATATATTAATATATATTATATTAATATATATTATAT TAATATATATTATATTAATATATATTAATATATATTATATTAATATATAT TATATTAATATATATTAATATATATTATATTAATATATATTATATTAATA TATATTAATTATATTAATATATATTATATTAATATA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar

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Search Results (Total: 10000 hits)