Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAN2B2_chr4_6570189_6628362	6622759	GTAAGATG others(1745): Show GTAAGATGTAGGAAATTATTTGGTACTCTAGGGCTGAAGGAAAGTACCCA GAAAGGACCAGCTTGGAAGGAGTCAGACCTCTGGACAACGTGCAGTTTGG CCACCAGACAGCAAAGACAGTCTCTGGTTTGGCCAGGCAGGAGCTGGGCT GGAGTTGCTGACCAAGCAATAGGCCACCCCTGTGAGGTGGGGTCAGGTGA GCAGCCACCAGAGGCATGGATGTGCAGTGGGAGGTTGAGGCACAAGGAGT GAGGCAGGAGCCCTTTAGAGCATGTGGGCTGCATGAGGCTTGGTTTCTGT GTCAAGAAGACTATGGAGGCTGGGCAGTGGTTCATGCCTTAATCCCAGCA CTTTGGGAGGCCAAAGCAACCGGATCACTGGTGGTCAGTAGTTCAAGACC AGGCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAGTTAA CCGGGTGTGGTGGTGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATCAATCACTTGAACCTGGGAGGCGGAGGAGACCTCCGCCTCT GCACTCCAGCCTGGGTGACAAGAGTGAGACTCCGTCTCAAAAAAAAAAAA AAAAGGAAGACTACGGAGGCCAGGCGTGGTGGTTCATGCCTGAAATTCCA ACACGCTGGGAGCCCTAGGCAGAAGGATCGCTTGAGCCCAGGTGTTCCAG ACCAGCCTCGGCAATATAGTGAGACCCCATCTCTACAAAAACTATTCTTT AGACGAGCGTGGTGGTGTGCACCAGTGGTCCCAGCTACTCTGGGGGCTGA GGTGGGAGGCTCACTTGAGCCCAGGAGGTCGAGGCTTCAGTGAGCCATGA TCATGCCACTAACTCCAACCGGGGTAATAGAGCAAGACCCTGTCTCAGAA AAAAATAAAGAAGACTATGGAAATGTTATCCCCAGCGCAGCCAGGCTGTA GAAAAATCATGTGCACTGAAAGTACCATCACCCATGCTGACCATCCCCGT CCAGAACAGAAACAGCAAGAGAGCCACTTCCCCCTGCGGTCCCTCCAGCA CCCAGCACCCTCAACTGGGAAGAGTGAGAAGAATATAGATGACAGGGGAA AACCCACCCACAATAGACAGAATATTGGCTAAAATCTAACATCCATTTGT TGCTTTGTTGTTATTTCATTTCATTTTACTTTTTTAGACACAGGGTCTCG CTCTGTCACCCAGGTGGGAGTGCAGTGGCACTATCATAGCTCACTGGAAC CTCTTAACTCCTGGGCTCAAGTAGTCCTCCCATCCCACCCTCCTGAGTAG CTGGGACTACAAGCATGAGTCACTACACCCAACTAATTTTTAAAATGTTT GTGGAGACGCAGTCTCACTATGTTGCCCAAGCTGGTCTTGAACTCCTGAG CTCAAGCGATCCTCCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCT CAAGCCACTGTGAATGGCCTGTTTTTTGTTGTTGTTGTTTGTTTTTTTTT TTTTTTTTTTTTTTTTTTTACAAACCACCACCACCAAACTCCCAATAAAC TACGTTGCTCACTGACAATCCCCAACAGGTTTATTGCGGAACTTGACAGG ATGATTCTGAAGTGCACTGGGGCTAGGTACAGTGGTTCGTGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTAGAGGCCAGGAGTTC GAGACCAGGCTGGCCAACATAGTGAAACCCCCTCTCTAAAAAAATACAAA AAT	G G	splice_region_variant splice_region_variant	LOW	HG02257.hp2 HG02280.hp2 HG02630.hp2 others(2): Show HG02257.hp2 HG02280.hp2 HG02630.hp2 HG03041.hp2 HG03486.hp1	a0030 a0034 a0040 others(2): Show a0030 a0034 a0040 a0041 a0043	a0030c0058 a0034c0056 a0040c0039 others(2): Show a0030c0058 a0034c0056 a0040c0039 a0041c0042 a0043c0040	a0030c0058t0007 a0034c0056t0007 a0040c0039t0007 others(2): Show a0030c0058t0007 a0034c0056t0007 a0040c0039t0007 a0041c0042t0007 a0043c0040t0015	a0030c0058t0007g0127 a0034c0056t0007g0221 a0040c0039t0007g0050 others(2): Show a0030c0058t0007g0127 a0034c0056t0007g0221 a0040c0039t0007g0050 a0041c0042t0007g0077 a0043c0040t0015g0039	5	362	0.0138	-1752	c.14 others(11): Show c.1475_*3226del	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	19/19			chr4	TogoVar
NDUFB4_chr3_120591336_120607507	120598353	CATCTTGC others(1745): Show CATCTTGCCTAATCTTTAAGAATGATTGATTGAATCAATAAATAATTGCT CAGGGTCTGTTATGGCCCTATTTTACATGCCAAGATAACAATGGAGATCA AAACAGGCAAAAATTCCTGTCCTTGTAGAACAAACTTTCTAGTAGGGGAG ACAAGAAACAAGTTAAAAAATTAAAATCATTTAACATGTTAGTGGTAAGT GATGAGAAAAAAAATAAAGCAGGGGAGATTTGGAGTGTGTGTAAGTAGTA GGGGAGGTAAGCAGCTACAATCTTAGGCCCAGGGAAGCCCTCTGTTTGAA GGTGACATCTGAATAAAGATCTGAAAGAAGTGGGGTGAGGGACCTAGCTC TCTAGGAAGGCAGCCTACTCATCAGAGAACGGCAAGTGCAAGGGCCATTA GGCAGGAGAGTGTCAGGTTAATTGAAAAAACACTGGAGAGACCATTGTGA CTAAAGTGGAGAAAGGTGAGGGCAGAGTGGGACAAGATCACACCAGGCCT TGTAGGTAATTGTAAGGACTTTTACTGAATAGAGAATTTCGTGATCTGGA CTTAACAATTTCTCTGGCTGCTTAGTTGAGAATTGACTATGGGGGAAAGG ACAGGATCAGGGAGACTAGGAGGCTTTTGTAGTAATCCAATCTCTGTTGA TTACCAGGGTGGTGGCAGAAGGCGGTGAGAAATGGTAGATTCCAGGTGTA TTTTAAAAGTAGAGCCAACCAGGTTTGCTGATAGACTAGATGTGGTGTAT GAAAGAGGAGTCAAGGATGACTCCAAGGTTTTTGACCTAAGTGATTTTAA GAATGAAGTTGCCTTTTACTAAGAAACACAGGAATGGGAGAAGAGAAGGT ATGGAGGTGGAGTAGACTGTTGGGAAATCAGTTTGGGATATGTGACGTTT TAGATGCCTGTTAGACCGTATGTCAGAGTTCAGCAGTTGGTTGGATATTA AGTCTGGAGAGTTACAGGGCTGGAGGTAAAATTTTGGGAATCATCAGCCT TTAGATAGATTATTTAAAGTTATCTGACCAGATGACATCATCAAGGGAGT AAATGTAGATAGGAAAGACCAGCGAGGTCCAATATTAAGAGATTGGGGAG ATGAGGAGGAAAAGAGCAAAGAAATGAAGAGAGAATGGCCATAGAGTTAG CAGGAAATCCAAGCAGGTGTGGGCCTGGAAGTCAAGTGAAGACATGATTT TCAGGAGTTTTCACCATGTCAGATGCTACTGAGAGTGCACTGGACTTTTA GTGATGTCAGAGGAGGAAAACTCTCTTCATAGTGTGTCTTTTGGAACCTC TCAATAACATTACCGGGCTTAATGAACTATGGTCATGGGGCAATTGGTAT TTTTATGAAATGAAATGTCTGTTTCTGGAAGACAGATCTGGCAGATATTA AAGCACAGAGAGGTGACTAGCAAATTGAGAAGTCTGCCATTTGATAGTCA TTCAGATACATTTATAGTAGAAAGGATGTAAGAATAGATGCATTAATCCT TTCAGCTATTGAGCTTTAACATCCCCTTGGACCTAATCTGTGTCTTTACC CTCTTTTTTCTTGTTGGCAGTATAGGCATAATAATAAACAATGCTGCAGA ACACTTGCATGTGCTTTCATTTTAATGTGGTGTGATAATGTCAATAGTTT CTAGAACAGCAGAAGATATTTTGGGACTTTGTATCTAGTAGTGAGTGCTT ACACCGTTGAGGAATTTCAGTCTGATTAAAAGGAACGGAAGCATTTCCAT CAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	424	0.0024	-1752	c.180 others(17): Show c.180+1816_181-1005del	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
TYMS_chr18_652653_678578	654174	GCCTCAAA others(1745): Show GCCTCAAAATAACACAAGGGGCCGGGTGCAGTGGCTCACGCCTGTATCCC AGCACTTTGGGAGGCTCGAGGCAGGCAGATTACTTCAGGTGAGGAGTTCG AGACCAGCCTGGCTAACATGGTGAACCTCCATCTCTACTAAAAATACAAA AACTAGCTGGGCATGGTGATGGGTGCCTGTAATCCCAGTTACTCGGGAGG CTGAGGCAGGAGAATTGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCT GAGATTCTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCG AAAAGAAAAAAAGAAAGAAAGAAAAAAAACACACAAGGATGTGCAACTGA TGCAGGGCAGGTGAGCCCAGAATTGGGCTTAGCTCAGGAGGGTTCTTGGT TTTGCTCAGGAAAGAATTTAAGAGCTACCTGGTAGAAGAAAAGCTCTACT GATATGGCAACAGCTCCCTGAGTGCCCCTGTAGAGCAGAGCTACCCTATA GGCAGTGTGCTGACAGCAGTAGCTTAAAGGCAGGTCTGCAGTGATATTTA TAACCTACTTTCAATTACATGCAAATTAAGGGGCAGATTATGCAGAAATG TCTAGAAAAAGGGTGGTAACTTCCGGTTGTCGGCTCACTGCCATGGAAAG GGGCAGTAAGCTCTGGATGTTGCCATGACAATCGTAAACTGACATGGCAC ACTGGTGGGCACGTCTTATGGAAAACTACTTCTGCCCCATCCTTGTTTTG ACTACTCCTCAATTTGGTCCCATGTCAGAGCCCTGCCTCCAGAGTCAAGC CCTGTCTACCTCACAATTATTATGTATCAGGTTTTTAAAAAATAACACAA GTAAGGCTGGGCATGGTGGCTCACGCCTTTAATCCCAGCACTTTGGGAGG CCGAGGTGGGCAGATCACTTCAGATCAGAAGTCTGAGACAAGCCTGACCA ACATGGTGAAACCCTGTCTCTCCTAAAAATGCAAAAAAAAAAAAAAAGAA AAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTATAGTTCCAGCTACTTG GGAGGCTGAGGCAGAATTGCTTGAACCCATGCAGCGGAGTTTGCAGTGAG CTGAGCACCACTGCACTGCAGCCTGAGGGACAGAGCAAGATTCCACCTCA AAAAAAAAAAAAAAAAAAAAAAAGGAAAAAGAATAACACAAGGAAATTAA ACACAGATAACGTGCATCTGGATAATCTGGAATATTTTCAGCCTGGGATC TTCCTCGTGCTCGGAAACGTGTAGGGAAACGTGTAGGGACAGTTTTCAGC TGGTGTGGGGTGGGGGAATGCCAACATATGGTTGGCTTTCCACAGTCCTG CTAAAGCCCTGCAATGTGCAGAACAAACCGGTCCAGCTAAGAAAAGTCCC ACCCAAAATGCTGAGAGCACCTCTGTACTCAATCAACCGTTGAGGTAAAA GGATGCTTGCAAGTACAACACATGTATCAGTGCATTTTAAACTCATTATA AAATCGTTCTGTAAACCAAAAATAAAATTCTACGCCCAGAACCATCTGAA AAGACCACTCCTCTGGGTCAAAGGCATTCCAAATTTAACCACAAAAACTA GTTCAGGCCATGATGGGAAGGGGAGCCAGACATGCCTCATTATTCCCTCC TCCGTTTGGAATTTAGGCACAGCTGACCAGCATTGACATCAACACAGGCC TCAAGACAGGTAGAACACACTCTTTAAGTCTGACAAGAAACATTTACAAT CTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03225.hp1 HG02109.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0013 a0001c0001t0009 a0001c0001t0013	a0001c0001t0009g0408 a0001c0001t0013g0418 a0001c0001t0009g0408 a0001c0001t0013g0418	2	482	0.0042	-1752	c.-35 others(11): Show c.-3568_-1817del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding		3478		chr18	TogoVar
LINGO2_chr9_27932617_29218601	28553711	TTGAAATG others(1744): Show TTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTT ACCCTCAAAGGGAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAAC CCTACAAGCCAGAAGAGACTGGGGGCCGATATTCAACATTCTTGAAGAAA AGAATTTTCGACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGT GAAGGAGAAATAAAATACTTTACAGACAAGCAAATGCTGAGAGATTTTGT CACCACCAGGCCTGCCCTAAAAGAGCTGCTGAAGGAAGCGCTAAACTTAG AAAGGAACAACTGGTACCAGCCGCTGCAAAAGCATGCCAAAATGTAAAGA ACATCGAGACTAGGAAGAAACTGCATCAACTAACGAGCAAAATCACCAGC TAACATCATAATGACAGGATCAAATTCACACATAACCATATTAACTTTAA ACGTAAATGGACTAAATGCTCCAATTAAAAGACACAGACTGGCAAATTGG ATCAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCAC GTGCAGAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACC AAGCCAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGAT AAAACTGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTA CATAATGGTAGAGGGATCAATTCAACAAGAAGAGCTAACTATCCTAAATA TATATGCACCCAATACAGGAGCACCCAGACTCATAAAGCAAGTCCTGAGT GACCTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTCTAA CACCCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGG ATACCCAGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATC TACAGAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACC ACACCACACCTATTCCAAAATTGACCACATACTTGGAAGTAAAGCTCTCC TCAGCAAATGTAAAAGAACAGAAATTATAACAAACAATCTCTCAGACCAC AGTGCAAAACTAGAACTCAGGATTAAGAATCTCACTCAAAACCACTCAAC TACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACG AAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGAC ACCACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGGAA ATTTATAGCACTAAATGCCCACAAGAGAAAGCAGGAAGGATCCAAAATTG ACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACAT TCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAA GGAAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCT GGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATA GAGAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGG GGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACT ACAAACACCTCTATGCAAATAAACTAGAAAATCTAGAAGAAATGGATAAA TTCCTTGACACATACACTCTCCCAAGACTAAACCAGGAAGCAGTTGAATC TC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	62	0.0161	-1751	c.-31 others(21): Show c.-313-79437_-313-77687del	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	3/6			chr9	TogoVar
UPF3A_chr13_114276601_114310817	114292868	TTCGAGAT others(1744): Show TTCGAGATCACCCTGACTAACATGGTGAAACCCTGTCTCTACTAAAAATA CAAAAATTAGCCAGGTGTGGTGGCGGACGCCTTAATCCCAGCTACTCAGG AGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGAGCAGAGGTTGCAGTGA GCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCC TCTCAAAAAAAAAAAAAAAAAAAAAAAATTTCCTGGCCGGGTGGGGTGGC TGACACCTATAATCTCAGCACTTTGGGAGACCGAGGCAGGCGGATTACTT GAGTTCAGGAGTTTGAGACCAGCTTGGCCAATATGGGGAAACCCCATCTC TACTAAAAACACAAAAATGAGCCGGACGTGGTGGCGTGTGCCTGGAATCC CAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGG AGGTTGCAGCGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCAACAG AGCAAGACTCTGTCTTAAAAAAAAAAAAGTTTCCCTGATTAAAAAATACA CATTTGAAAACCACTGGTTTTGCCTTTCTGTGTGAAGGCTGACTCAGAAC CGGGTTTTATCATTTCTTTGGCAGTAGCACTAATGAGTTTCTGTATTTCT TGCTGAGTTTTTTCTGTGACTGATACATTCATTTATGAGGGTGGTTTAAT ACATAGAGGGAATTTTTCTCTGTGTGAAATGTGTTGGCCAGAATTGGGAC CAGCCATTATCTCCTCAGTACTAAACCTAGATTTGAACCTAAGGTATCAC TCATTACTTATTATTTATTGAATACCTTATATTCAATAATATTGTACAAT ATGAGGAAAAAAATGAAATGTCAGGACTTGGGGAAAGAAGATAGCTTAGG AAAGGGTGGGGAAGAGATCATTGAACCATAGATTTGTTTCTGATATGGTC AGCAGTCAAAAACAGAAAAGTTGGCTGGGTATGATGGCTCATTCCTATAA TCTCAGGACTTTGGGAGACCAGGGCAGGTGGATTGCTCTAGCCCAGGAGG TCAAGACCAGCCTGGGCAACAGAGAGAGACCCTGTTTCTGTTTTTTGTAG AGATGGGGTTCCCACTATATTGCCCAGGCTGGTCTCGTACTCTTGGACTC AAGTGATCTTCCTGCCTCACCCTCCCAAAGTTTGGGGATTACAGGCGTGA GCCACCATGCCTGGCCTGGTTTAGCTTTTAATAAGTATCTGTGCTCAGTA TGGGGGTCTTTCACTTCTAAATCATGTGGAAAATTGAAATTCTTTTAATG CCTGAAAAATGGAATCTGTGGAGAAATGCAAAAGAAGGTGTATCAACAGC TTAAAGAAAGACAGATGGCTCATGGCTATTTTGCTATTTTTTTGTTTGGT TTTGGTGGGGGGGGGGTTTGAGACAGGGTCTCAATGTGTCACCCAGGCTG GAGTGTAGTGGCACAGTCACAGCTCACTGCAGCCTCTACCTCCCAGGCTC AAGTGATCCTCCCGCCTCAGCCTCCCATTACAGGGGTGCAACATCATACC TGAATAGCTAATTTAAAAAAAAATTTGTAGAAGTGGGGGTCTCACTATGT TGTCCAGGCTGGTCTTGAACTCCTGGGCTGAAGTGATCCTCCCACTGCTG GGGTTAGAGGCATGAGCCACCGTGCGTAGCACTCATGGCTATTCTTAATA AAGAGAAATATGGTTTGGGAGGCCGAGGCGGGCGTATCACGAGGTCAGGA GA	T T	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18993.hp1 NA18957.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0039 a0001c0001t0001g0050	2	450	0.0044	-1751	c.846 others(17): Show c.846+1083_846+2833del	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
ADARB2_chr10_1172313_1742525	1238179	TACTCCCT others(1743): Show TACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCA TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGT GTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCC TGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCC CTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCCCTCTCCCTCCCGGT GTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGTTTA CTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCC TCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTC CCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTT C	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0005 a0001c0001t0015g0005	1	106	0.0094	-1750	c.136 others(19): Show c.1361+2202_1361+3951del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
NCAPG2_chr7_158626169_158709804	158708056	CCCAGGAA others(1741): Show CCCAGGAACCTGTCTGCCTCCCGCTGCCATCACCGTTCACTGGGAATGTG ACCTTCCCCGCAAATAGATGACACTCCTCCAGAACTCAGCTCAAGCTTTA CCTTCTATAGGGGTTTATTTCCTGAACCCCATAACCCTCACTGTAATGCA ATCTCTTAGCCCCCTACCACAGGCCTCATCATCTCCTCCATGTCAAGCAC TGTGTCATCCTTAGTCCTATATCCGTGGCGTAAGGCCTGGCACATTTTAG ATGCTTGAAGAAAATATTTTCTGAATAAATGAATGAATGAGGCATGAGAT CATCTGTGTTCTTAAAATCTTACAATGTGGTAAATTAGAAAAGGTTTATA GAATTAAAGGTGGACCACATGGCAAGGCAATATAAAACTAAGTTTCAAAG GGTATAAAACTTGGCAAAAATATCTTTGATAAAAATATAATATCTTTTTT TTTTTTTTGAGACATAGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGG TGCTATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTATATGGGACTACAGGTGCCCGCCACCACGCC TGGCTAATTATTATTATTATTATTATTATTATTATTATTATTATTATTTG TATTTTGTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCACCCTCCCAAAGTACTGGGA TTACAGGCGTGAGCCACCACGCCCGGCCAAAAATATAATATCTTTCATAG TGAGCCAAGCATAGGGTTTGCAGGGTTTTTTTTTTTTTTTAAGTTTAGTT TATTTTGAATTGCACAAGTAACACAATCACACGGTTCAAACTCACATGGC AAGAAGAGGTATACAGAAGAGTCTTCTGAGACCCCCTGGACACAGCCCTC TGCTCCAAAGGAAACCATTGTTATCAGCTTCTCAGAAACCCTTCCCTTGC CTGTATAAGAAAATACAAGATTTATAATTTAATTATAATAATTGTAACAT GGAAAATAAGCTAAACCAACAAGAAGTCATTAGCTAGGAACTTCATGGAA TCCTAGTTAAAATAACCATTTCAAAGCCACTCTGGGCAAAACCCCCCAGT GCAGGGCAGCTGTGAGGGCTCTGTCACACCAGCCGGGGGCCCGGAGGAGG GGTCTCCAGGGCCACACAGGGCCTGGCCCAGCAGAGTGAGCCACTGGCTC CAAGAAGGGGAGGAGTCTCTCCAGCACATAGGAAGCTGTATTAGTCTGCT CTCACACTGCTATGAAGGAATACCTGAGGCCAGGTGCAGTGACTCACACC TGTAATCCCAGTACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCT GGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAATTACCCAGGCATGGTGGCGTGCGCCTGTAATCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCACAGCCACA CTTAGGGAGAGCTTGGGAAGGGGTGGAGGGTGACAACTGGGGGTGCTGAG ACAGATACCATCACCTGGTGTCCCCGACAGTGAGGGGAGGGGAATGGTGG GGCGAGCCAGGCTCTGCAGGGCCCTCTGGACTTCTGGGGAGCTCCTGTTC AGTGCAAGTGGTTTTCTTCCCCCTCTTAGGTTGAATTCCTCTTTAACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00544.hp2 others(76): Show HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00621.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18944.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18979.hp2 NA19004.hp1 NA19058.hp2 NA19064.hp2 NA19074.hp2 NA19079.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0010 a0013 a0019	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0004c0007 a0010c0021 a0013c0017 a0019c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0002c0002t0001 a0004c0007t0002 a0010c0021t0001 a0013c0017t0001 a0019c0023t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(73): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0352 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0184 a0001c0001t0005g0168 a0001c0001t0005g0214 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0002g0202 a0001c0003t0002g0208 a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0004t0001g0003 a0001c0004t0001g0189 a0001c0004t0001g0191 a0001c0004t0002g0186 a0001c0004t0002g0187 a0001c0004t0002g0188 a0001c0004t0002g0190 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0004c0007t0002g0212 a0004c0007t0002g0216 a0004c0007t0002g0217 a0010c0021t0001g0213 a0013c0017t0001g0357 a0019c0023t0001g0158	79	378	0.2090	-1748	c.-51 others(11): Show c.-5120_-3373del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding		3253		chr7	TogoVar
BRSK2_chr11_1384934_1467689	1429523	GCTGTGCC others(1740): Show GCTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTG CGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	360	0.0028	-1747	c.92- others(15): Show c.92-6510_92-4764del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
KLC1_chr14_103624211_103706544	103648156	GGCCAGGA others(1739): Show GGCCAGGATGGTCTCAATCTCTTGACCTCGTGATTTGCCTGCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGTATTG TTTTTCAAATGACATTTTAAAAAGAGTAAAAATTGTTTTATTTCTAGGTT ACAAAATGCTACAGACAGGATTTTAACATTTATTTTGATTTATTTTTTAC TCCTGGCAAGTTGCGATACAGGTATTTAATCAGAGGTCCCAATGTGGAGC CTGACAGGATAGGTTCTTAACATTCTCAATTTATGTCCTCAGAATGTGGT AGTACGAAAGAATGATTGAAGTAAATCTTTGGACTTGAGACTTGTGGCCT GGCATGGTGGCTCATGCCTGTAATCGCAGCACTTTCGGAGGGTGAAGTGG ACAGGTCACTTGAGCCTAGGAGTTGAAGGCCAGCCTCGGCAACATGGCAA GACCCTCTCTACAGAAAATAAAAAGAAAATAAAAAAGAAAGAAAAATTAG CCAGGCTTGGCGGCACGCACCTGTAGTCCCAACTACGTGGGAGACTGAGG TGGGAGGATCACTTGAGCCCAGGAGGTGGAGGTTGTAATGAGCCAAGATC ATGCCACTGCACTTCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAGACA AAAAAGGAGAATCATGTATGTTAAAAATACATGTCAAAATGGCACAGTGG GCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGTTCTTTGGGAGGCCGAG GCGGGCAGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATG GCGAAACTGTGTCTCTACTAAAAATACAAAAGTTAGCTGGGTATGGTGGT GCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGATGTGGGAGGATCGCTT GAGCCCGGGATGCGGAAGTTGCAGTGAGCCAAAATAGTGCCATTGCAGCC CACCCTGGGTGATAGAATGAGAGCCTGTCTTAAAAAAAAACAAAGAAACA GTACAGTGACAATTGCCTATACTCCTAGCTCCTTGGGAGACTGAAGGTGG GGAATTGCTTGAGTCTAGGAGTGCAAGTCCAGCCTGGGCAACATAGCAAG ACCCCATCTCTAAAAGAAAGAGAAAAACATGAAAACCACAATACTATATA ATTGCAAAAGTTGAGTCACTATCTAAAATAATGTAAACAAAATGAGTTCT AAAATAAAAATAACAATTATAGGGTTTTTTTGGTCTTCATTATGTTAGGT AGTGACTTACAGTCTGTAGACACAGTACATAATTTGTTAGGGGCCTGGTG TGATAGCTCATACCCATATCTCCAGCACTTTGGGAGGCCAAGGTGGGAGG ATCACTGGAGCCCAAGAGTTTTAGACCAGCCTGGGCAACATGGTGAGACC TCATCTCAAAAAAAAAAAAAAAAAAAAAAGAATTTGTTAGGTTTACTTGA ATCCTGAGACTTTAAATTTAGTAGACTGTAATAGCTTTGCCTGTTGAACA ATAGCCTTAAAGAGGTTTGACCCTAAAAAGGGCTTCTTATGTGTTTTTTT TTTTTTTCGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCCATCTCGGCTCACTGCAAGCTTCGTCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCACCATCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA	G G	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	368	0.0027	-1746	c.-1- others(15): Show c.-1-6401_-1-4656del	KLC1	ENSG00000126214.22	transcript	ENST00000334553.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr14	TogoVar
TM4SF20_chr2_227357038_227384306	227368402	GTGCAGTG others(1739): Show GTGCAGTGGCGCTATCTGGGCTCACTGTAACCTCTGCCTCCTGGGTTCAA GAAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGCCCGC CACTACACCTGGCTAATTTTTTTATTTTTATTTTTTGTATTTTTAGTAGA GACAGGGTTTCACCATATTGGCCAGGCTGGTTTCAAACTCCTGAACTCAA GTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGC CACCGCACCCAGCCATATTATCTTTGAGTTCTCATCCCTACAAAAGGCCT GGCTTTAGAAAGTGATTCCAGGCATGTGTATTTCCCCTAAAGGGGATTCA CTTAAATGATTCAGCAAAACCATTTTGTATTCAGAAGCAAAAATAAGAAC TGGAAAAAGGGAAGAAGCAAAGAACAGTTAAAATAGGGGACAAGCCTTGG TCAACCCTTTCCCTTCCTCCCAAGATGTTGCCTTTGCCACTTGTCTCATG TTTTGGTCTTATCTAGGCCTCAAAGACACCAGATACGACATAAAAACCAG TTCTTAGAGGATACACCTATCGGAAAAGCCTATATAAGTGTTTTGATATT TTTGATTTCAGGAATTCAGAAATGTCTCAGGATGTCAAGAATGTTGTGAA CACCACATAGAAAAGATACAAAGTCAAATTCCAAATTATTATCGTTTACA AAGAAAAGTGACAGGGAAGGGAAACTGAAAATTAGTGTTTATTGAATACC TAAAATGTATTCAGACAAAAATAGACTAGAACTAATTAGCATAATTATTG TAATCCTAGATAAATATCAAATGTCAGAAAAAGGGTAATTTTTAAAAATA TGAATCTTCCATTATGGATAGAAATATCTGGTTTGTTTTTTTTAAGTAGT GGTTCTAACCCCTGGCCAAATTATCTTGAGTGCTTTTGAAAAATACTGAT GCAGAATCTCTGGCGGCCACCCAGGCACTGGTATTTTTTTAAATCTCTTT AGATAATTCTAATATCCCCATCTGTCTTTTTTTTTTTTTTTTTTGAGAGA GTCTTACTCATCTGTTGCCCAGGCTGAAGTGCAGTGATGTGATCTCGGCT CACTGAAACCTTTGCCTCCTGGGTTCAAGAGATTCTCCTGCATCAACCTT CTGAGTATCTGGGATTACAGGCATGGGCCACCGTGCCCAGCTAATTTTTG TATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAA TTCTAGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGTGAG CCACCGTGCCCAGCCTAATGTTCCCATCCATCTGAGAACCATTGCTCTGA AAGCTCAAGCTCAGCCAAGCAGATTTACTGTGACTGCTTGCTGTCAATCT ACCCCTTCCACAGGGAATTGTGAGAGTCCTTATGTTGCTTAATAGCCATG TTCATGGTATAAAGATCATGAATTGTGGGGTGCTCCAGTGGGTTTGGATA AAAATCCACTTACTAGTGTGCTACACTGGCAAATTATTTACTTTCTCTGA GCGTCCATTCCTTCGTCAATCAAACACACTTCTTACTTTTTCCCACTTAA GGGTTTTGAGAGAATTAAATGAAACAGCATCTCTGAAAGTGTTCTGAGCA GAGTGACACTCCGGTTAATGAATCTTAATTTACTTTTAACTTCGTTACGA CTTTATACATAGTGGGTAGGCATTAAATGTTTTGGGGGAAAAAAACC	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0123 a0007c0012t0001g0123	1	470	0.0021	-1746	c.249 others(16): Show c.249+767_250-2159del	TM4SF20	ENSG00000168955.4	transcript	ENST00000304568.4	protein_coding	2/3			chr2	TogoVar
TOPBP1_chr3_133595238_133666941	133603659	GTAAACAA others(1739): Show GTAAACAACTAGCAACAAAGTTTGAAATAAATGGGGTAAAAGCTGACAAA ATTAAAGAGAAAAAACAGACAATTCCACAAACAGCTGGAGATTTTAGTAT CAGTAATTGATATAACTAAACAAACAAAAAAACCCACATACACAGAAAAT CTGATCAACATTATCAACCATATTAACCTATTTGATATTTTTAGAACACA ACACCCAACAGCTGCAGAATATAAAATCTTTCACATATATGATATGTTCA TTAAGATAGATGAAGCTGGGTGATAAAACAAGTCTCAATAACTTTAAAAG AATTAAAATTATAGAGTATTTTCTGTGATTACAATGGAATTCAATGGGCA ATCACAAATTAAAAAGATAGAAAAAAAAATCCTCTTATATTTAGGAACTA AACAACAGACTCCTAAATAAGCCAGTTATAAATGAACACAAGTTGACAAT ATCAGGAATAAACTTATTTATTTATTTATTTATTTATTTATTTTGAAACG GAGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCGTGATCTCGTCTC ACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCC CGAGTGGCTGGGACTACAGGCACACGCCACCACACCCCGCTAATTTTTTT GTATTTTTAGTAGAGACAGGGTTTCGCTATGTTGGCCAGGCTGGTCTCGA ACCCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCTAAACTGTTGAGA TTACAGGCGTGTGCTACCGTGCCCAGCCAGGAATAAACTTATTACACTAA AAGGATAATAAGAATATTATGAAGAACTTTATGCCAACAAATTTGATAAG ATGAAATGGATATATTATTTGAAAAACACCAGTTATTAAAAACTGACATA AAATGAAACAGAAAATAGGAAAAGCGCTGTATCTAGTAAAGAAAATTCGT TACAAAAAACCACATATAAAGAAAACTCCAGGCCGGGTGCAGTGGCTCAC GCCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGG TCAGCCTCAGGTCAGCCTGGACAACATGGTTAAAACCCCGTTTCTACTAA AAATACAAAAATTAGCCAGGTGTGTTGGCTCATGCCTGTAATCCCAGCTA CTTGGGAGACTGAGGCAGGAGAATCACTTGAACCTAGGAGGTGGAGGTTG CAGTGAGCTGATATTGCCCCACTGCACTCCAGGCTGGGCGACAGAGCAAG ACTCCATCTAAAAAATAAAAATACAAAAAAAGAAAACTCCAGTCCAGGTG GCTCATGCCTATAATCCTAGGACTTTGGGAAGCCGTGGGGATCACTTAAG CCCAGCATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTAAG ACTGGTGGCGTGCGCTTGTAGTCCCAGCTACCCAGGAGGCTGAGGTGGAA GGATCATTTGAGCACAGGAAGTGGAGATTGCAGTGAGCTGAGATCAAGCC ATTGCACTCCAGTGTGGGCAACAGAGCCAGACCGTGTCTCAAAAAAAAAA AAAAGAAAACTCCAGACCTTCAAACATTCAAGGAAGAAAGAGGCATCTTA CACAAACTCTTCGAGAAAATCAAGGGAGAACTTCCCAACTTGTTTGTGAT GCCAGCAAAACGCTAATACCAAAAGATGACAAAAACATTACAAAACAATG AGAATTACATACCAATATCCCACCCTGAAAACAATTTTAAAAATTTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 NA18954.hp2 HG00408.hp2 HG00609.hp2 NA18954.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0234 a0001c0004t0001g0235 a0001c0004t0001g0236 a0001c0004t0001g0234 a0001c0004t0001g0235 a0001c0004t0001g0236	3	340	0.0088	-1746	c.442 others(19): Show c.4425+3130_4426-2267del	TOPBP1	ENSG00000163781.14	transcript	ENST00000260810.10	protein_coding	27/27			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1288204	TGTGTCTC others(1738): Show TGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCC TGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCG TGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTC CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0157 a0001c0001t0005g0157	1	295	0.0034	-1745	c.36 others(11): Show c.3615_*5359del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4186		chr1	TogoVar
CFAP107_chr1_12741200_12768699	12745321	CTTTCTCT others(1738): Show CTTTCTCTGAATTGCCTAGCGAAATCCAGCCTCTTCACTTTTAGCAAGCA ATACTATAGCACACAGAGTTTTGTTTAGTTAACCACATGTTATAGGCATC TTTTAAAGTCAGCCTTTAAAACTCTTGCAGAGGATTTCATCATCTGGATG TATTACAGTTTATTGAACAAGCCCTCTGCTGATGGATATCTTGGTGCTTT TTGACTTTTTTTTTTTCCTAATGAATGAGCAAGACAAAGGCCCTTATCTC ATTGGACTGAGCTCTGTGGGGATGGTGCCCAGGTCTAATTGCTAATGCAT TGCAGCTGTAGCTAAGCACCTGGCATAGAATGGGAAATGATTGTGGAATG AATGAATGAAGACTGAGCAAATGAAGCATATTATACCAGTGTGAGCACAA AGACAGAATTCTTTGTGCAAGCCCCTACAAAGTAGCAGATAGGAAATGAA TGGAGCCCACTGGTTTAGGTCTGAACCAGCGTGGATTTAAATCCCATCAC AACTGCATGATGTTAGGCAGCTACTTAATCTCTTTGCTTCAGTGTCCTCA TCTGTAAAATGGGTATAATAATGGCATCTGCGTCAGAGGGCTGCTGTGAG GATTAAACAGGTGAATAAATGTGCATAAATGTCTTTGCTTGGAGCAAGCA CATCAACATTCATTAAATAGTAGCAGACTTTAACTCACCCCAAATGTGAA AGTGTAGCAAGGATGATACTAGTATTGTGGTGAGAACACAGAAACCAGGT TCTTCTGGCGACTGCTTTTGTGGTGTGGTGGTTGGTTTGATTTGTTTCTG TGAGGTCAATTTTGCTTCTGCAGAATCAGCTGTTCTCTTACAGAGAGTAT TTATACTCAGAGTCTGTCACCATGGAGACAGTCAACAGTAGAGAATCCAA GATAGATCAACTCTCCCTAAAGGCTGACAGTGAACTCTTGGGGCCGTTTT ATTCTCTGAGGTTAGCAAGGAGTCATCTACTAGCCATTCAGGAGGCCAGC TGGGAAGACAAAATAGGCACCCCAAACTCAGCAACTTCATAACACCTTCC TCTCCCCGCCTGAAGCCTTAAACTGCATCAAGTCAAAGAAACCTGGGGCA AATCCTTAACATGTTTTTGACTGCAGTAAATCCACAGCCACTCTCTACTC CGAGCTGGCAGATTGAGACCAAGTATTCAACGAAAGTGCTCACTGGAAAT TGGATGGAAGAGAGGAGAAAGGTAAGGAAACGAGAGAGGTTGGAGAGAGG GCTCAGAGGGACTGATGGGGAGAGGCAGGAGTGAAGTTCATCACTATTTT CAAATGGAGGGCAGCAGATGATTGCATCTTAAAAATGTGGCATTGGGGTC TCTGTGCTCTACAAAGGATAGTTACATTCAAGCAATCATCAATATTCACG CATTTTGCATGGTTTCTATGACTGTTTCATACATGATGGTTATCGAAAAG ACCACTGACACTCTCTTACAGATATAACAGGGGCATTGAAAATACTGTAA CAGGGTGTCAATATAGTCGTGCCTCTCAGCACTCTTCTCAGTGAAGTGTT TCTAGGCATCTGGATGTTTTCTGTCCTTAATTCCTTTGTACCTTAATTTG AAGAACATTTGCTCTCCTCATTCTGGCCCTTCCCAGAATATGGTATCTCC TGAGGCCAGCTTGCCACTCTCTGTGCTGATGTCCAGGGATTTGCTGCTGC TCTCTGGCACCTTTCCACAATCCTGCCCTACTAATGCATTTCAATT	C C	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG02896.hp2 HG02896.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0049 a0008c0010t0049	a0008c0010t0049g0120 a0008c0010t0049g0120	1	336	0.0030	-1745	c.-11 others(13): Show c.-1109_111+525del	CFAP107	ENSG00000157330.10	transcript	ENST00000614859.5	protein_coding	1/4			chr1	TogoVar
BICRAL_chr6_42777052_42873556	42869821	CGAGGCAG others(1737): Show CGAGGCAGGCAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAA CATGGAGAAATCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTGGT GGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCA CTTGAACCCAGGGAGAGGTGGGGGTTGTGGTGAGCCGAGATCGCGCCATT GCACTCCATCCTGGGCAACAAGAGCGAAACTCCATCTCAAATAAAAAAGG AAGGATCATCTGGTTGCTAGGTTAGGATCTGTCTCTGTTCCCTGGGGGCA TGCCTGGAGGAAAGACAGGCATCTTCTCTTAGGATGGTTAAAACCCTCAG CTGTGTGTATGGGAGGACACATTCCAGGAAAGGGGCCCTAAGCACTTCCT GAGGCAGAGAAAGTTCCAAGTTAATTATTGGGGGAAAGGTAAGGGAAAAT AAACCTTTACAGTGTGGGGGCACTGCAACAGCATTGCTCAGGCAGGGCTC TAGCTGTGCTGTACTGAAAGGGCTAGGCCCTGGGGTTCAGGGTCATGCCC TACTTGCAGCCTTGTGTGTGCTCTCCAAGACAGAGGAGGACCCGTTGGGT ATCCAGCTGAAAATGATGATCATTAACCAACAATATTACTTGAGCAGTTG ACTGTTGGCAGACACTGTGCCAGACATTGGGATATACAGATAATTCAGGC ATGCTTTCTGCTTTCAAAGGGCTCACAGTATACAGGGGGAGCAACACACA GATATACATTACATTTGGGAACTGACTGGAGTTCAGGAGAGAAGAAAATA GGATGCTATAATTTTTCTGGGCTGGGCATGTGGCTCATGCCTGTAAGCCC AACGCTTTGGGAGTCTGAGGCAGGAGGACTGCTTGAGGCCAGGAGTTCAA GACAAGCCTGGGCAACACACAGTGAGACCTATCTCTACAAAAAAAATTAA AAATTAGCCAGGCATGGTGGCATATGCCTGTAGGCCCACCTACTCAGGAG GCTGAGGCCAGAGGATTGCTTAAGCCCAGTTCAAGGCTGCAGTGAGCCAT GATCATGCCACTGGACTCAAGCCTGGGTCACAGAACAAGACCTTGTCTCA AAAAATAAAATTCTTCTGGACTGCCACAATAAATTGCACAGAGAGCTGTA AATTACATTTCCATGCCCTGGTTCTTAGTATTTTCCTGAGTTAAACTTGA GAAAAAAATATACCTTCTGCAGTAACAAAGATAAAAGACTTTATTTATTT ATTTATTTATTTTCTGAGACGGAGGGAAATTTCCCTCTTGTTGCCCAGGC TGCAGTGCAATGGCGCAATCTCGACTCATCGCAACCTCTACCCCCAGGTT CAAGCGATTCTCCTACTTCAACCTCCCGAGTAGCTGGAATTACAGGCGCC TGCCACCATGCTGGCTAATTTTGTATTTGTAGTAGAGATGGGGTTTCTCC ATGTTGGACAGGTTGGTCTCGAACTCCCGACCTCAGGTGAACGGCCTGCC TCGACTTCCCAAAGTGCTGAGATTACAGGCGTCAGCTACCACACCAAGAC CTTTGTAATTAAATTGTTAATTATGTGGAGAAATCTGTTTCAGTGTATTC ACAAATAGCAGGAGCACATATGTAGTATAAAGTGGATTCTGTAATATGAA TTGCCTGTCTACGCTGCTGCAGGTAAAAGACCTTTATAAGAAACCCAGGC CGCGTGTGATGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01074.hp2 others(19): Show HG00323.hp1 HG00642.hp1 HG01074.hp2 HG01175.hp2 HG01261.hp2 HG01993.hp2 HG02293.hp2 HG02698.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 NA18940.hp2 NA18945.hp2 NA18960.hp1 NA18963.hp2 NA18982.hp1 NA19002.hp1 NA19004.hp1 NA19079.hp2 NA19080.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0043 a0001c0001t0002g0052 others(19): Show a0001c0001t0002g0005 a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0066 a0001c0001t0002g0087 a0001c0001t0002g0120 a0001c0001t0002g0146 a0001c0001t0002g0153 a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0200 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0220 a0001c0001t0002g0266	22	270	0.0815	-1744	c.43 others(11): Show c.4376_*6119del	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding		1266		chr6	TogoVar
ABCA13_chr7_48166458_48652497	48613512	CTGTGTTA others(1735): Show CTGTGTTAAGACACAACGACTACAAATCCCTTAATAGCTTCTTCCATTGC TTTTCTGCTTAGAAAATATCTTCCCATATTCAAATCATTATGTATATAAG ATAGTAACATCTTGTTCCTTGTAATTCTTTAGTGTATTACTGAATTGCAA TTATTTTAGTTGTATAGAAAATATTTATGTTTTCTGGAGCAAGTCTTCTT TCATGATTCCTCTTTCATTTTTTTTCTTCCTTTCACTAAGTAATTTTAAA GGTATACTTTATAATTATTTTAAAATTTTCTCATGGGAGTGATAAATGTA AAATTTTGATTAGATTTACTATATCTGTATTATAATATATTTTCATTATT ATAATAATATAATTATAGATTACCAATTTTGTAACATATTTCAAATTGAA ATGTCAAAATATAATTTAAATTATAATTACACATTAAAATGTTATTTATG GTATTATATTTTATATTATGCACCATATTAAAATACAACTTATTTATATT TTACATATAATTAATTTACTTATGTTTTATGTTTACACTTAAGGTAATAT TTAATATTTATACTAACATATTAATATTATTTTATATTACACTAATTTTC ATATTATAACAGTTTTTCCATTTTCAAAATATCCATTCTTTTCTTTTCTT CCATGCCTCCTTCCATTGATTCAATATTTCATTTGTGCCTATTAGTAAGG CTTCCTTGTTTCTTTTCATAAAACATTCACATTGCTTTGTTAAGATTATT CTTATTTTGTATTTTTGTACTATTGCTAAATGCTTCTCTCCTATATATTT TATAGCTGGTCTTCCTGGTATAAGAAAATACTGATTTTTGTTAGAATGGC AATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAA TAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTG TGGAAGTCAGTGTAGCGATTCTTCAGGGATCTAGAACTAGAAATACCATT TGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCAT GCTGCTATAAAGACACATGCACACGTATGTTTATTGTGGCACTGTTCACA ATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGAT TAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAA ATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATC ATTCTGAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATGTTCTC ACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAAGGGA ACATCACATTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAA CATTAGGAGATATACCTAATGCTAAGTGACGAGTTAATGGGTGCAGCACA CCAGCATGGCACATGTATACATATGTAACAAACCTGCACATTGTGCACAT GTACCCTAAAACTTAAAGTATAATAATAATAAAATAAAAAAATAAATAAA TAAAAAAGAAAATACTGATTTTTTGTTAATTGTAAAATTGGCTGTCTAAA TAAAACCTTATTGTTTTCAAAAGCTTTTGATTTGGTTACCATGAGATTTC TGTGTAAAAAAATTAAGTAATTTGCCCTAATGGTATCTTGTCTCCTTTTT GTTTTGAAAAGTTTGACTCAACCCTCCCCTCTTCAGGAAATGG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp2 HG01516.hp1 others(2): Show HG00738.hp2 HG01192.hp2 HG01516.hp1 HG01975.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0010 a0004c0009 a0012c0043 others(1): Show a0001c0010 a0004c0009 a0012c0043 a0012c0045	a0001c0010t0002 a0004c0009t0002 a0012c0043t0002 others(1): Show a0001c0010t0002 a0004c0009t0002 a0012c0043t0002 a0012c0045t0002	a0001c0010t0002g0074 a0004c0009t0002g0151 a0004c0009t0002g0166 others(2): Show a0001c0010t0002g0074 a0004c0009t0002g0151 a0004c0009t0002g0166 a0012c0043t0002g0098 a0012c0045t0002g0075	5	178	0.0281	-1742	c.147 others(19): Show c.14745-1772_14745-31del	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	58/61			chr7	TogoVar
FRMD4B_chr3_69163782_69391088	69267775	GGCATGCA others(1734): Show GGCATGCACCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGATGAG ATTTCATCATGTTGGCCAGGCTGGTCTCACACTCGTGGCCTCAAGTGATC CTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACTGT GCCTGGCCTAATACATATTTTTAAGTGAATTAATCTATACCTTTTAAAAA ACTAAACCTTTTGATGACAATGTTCTACCAGAAGATGCTGCAAAACATAT CATCAGGACTATGAACTTTCCTCCCAATTCTTATTTTTACTTCTCTCCTA TTCTGAAGTCTTGAGTCTCTACTTCATTCCCTCTAAGCCCAGGAAGAATG AGGCTGTCACAAGGTCAAATATCAGAGACTGGCTCCACCATTCTGCCAAT ATCTGAATCCTCCTTATAAACTTTTGTGCCAACATATTTTCAAAGTAAGG GAGTGAGTGTTTATGAGACTGCCCTGGAAATGAGAGGTGTGGCGATCTAT GGCTAAATTGTTAGGCGATGCAAGACAGGCAGGCAGCCTAAATAGGTCAG GCTCTGCCAATAGGCATGGAGGTTCCAGGGCACCCACATCTGATACATAT ACAGGGAGACAATTGGAGAACAGATGAATAACCAGTATTAAACAAACACT TAGAACCAAGCTCTCAACTTCTGTACTTACCCTTCCACATTATAAGATTA CATACACAACAGATTTTAATTACAGCATTCTAATTGCTTAAACGCACCCT GGCACCAATGTACAATGACAATTTGAATTAGTAGCAGCAGGGCGTTCTGA TGCAAAACTATTTTTTCTCTATTTAGAAAAAAGAAAAAATGCAAGGTGCT TAAAAGATAATCAAGGATTTTAGAGGAAGAAAGGATGAATCAGGAGGAAG AAAATTACAGTCATGATGTTAAAAGTAAGCCTTTGACTAAAGAAGCCCTG GTAAAGTAGGTATCCTATCTGGCTGTTTTGCATGAATAAATATGCAGAGA TACTTTCATTTTCAGGATAACATCTTCCATCTAATTGAACTGCTCATTTA TTACTATTTTTGCTATAGGGAATACCATGTTTAAAATATTTTCACCAACA TTCTTCTTGTATAATTGTGGTTATATATGATCAAGTACTTCTTATAGATG AGAATTTTTTTTTTTTTTTTTGAGATGAAATTTCGCTCTTGTTGCCCAGG ATGGAGTGCAATGGGGCGATCTTGGCTCACTGCAATCTCTGCCTCCCAGG TTCAAGCAATTCTCCTGCCTTAGCCTCACGAGTAGCTGGGATTACAGACA TGCACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGAGCTTT CTCCATGTTGGTCAGGCTGGTCTTGAACTCCTAACCTCAGGTGACCCACC TGCCTCGGCCTCTCAGAGTGTTGGGATTACAGGCGTTAGCCACTGTGCCT GGCAGATGAGAACATTTTATAACCGTCCTCCTGGGAATTTTGGAATAATA TCATCAATAACTACAAAAACAAGAAACATTTATTAAGTGCTTATTATCTG TTCCAAGAGCTTTGGATATATATTAATCCATGGGTCCTGTGAGGAGGTAA TGTTATCACCCTCCCCCTTCATAGGTGGGGAGACTGAAGCTTAGGAAGAT AGAATAGGCTGTTGCTTAAAGCCACCCAGCCTGTAGGTGATGGAGCTGAG ATTTAAAGCTGGACAGTTAGGAATCCCCTACCTCTGATACCC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03453.hp1 HG01243.hp2 HG03453.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0013 a0004c0006t0007 a0002c0002t0013 a0004c0006t0007	a0002c0002t0013g0039 a0004c0006t0007g0038 a0002c0002t0013g0039 a0004c0006t0007g0038	2	224	0.0089	-1741	c.501 others(19): Show c.501+18236_502-17677del	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
SAMHD1_chr20_36885229_36956708	36894399	ATTTTTGT others(1734): Show ATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGATGG TCTCGAACTCCTGACCTCAGTAAAGGCAATCATTTAGGCCAGGCGTGGTG GTTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAAGCAGGTGGATCAC TTGAGGTCGGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACCCCGTC TTTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACGTGCCTGTAGT CCCAGCTACTCAGGAGGCGGAGGCAGGAGAATCACTTCAACCCGGGAGGT GGAGGTTGCAGTGAGCTGAAACTGTGCCACTGCACTCCAGCCTGGGCAAC AGAGCAAGACTCTGTCTCAAAAAAAAGTCATCCTATTGTCATGATACTTG TACTTAAAGGCCTATCTCAAAATCAACAGTATTTATTTGTCTTTAAACTC ATCTCTATTTCTACCCAGCTTGCTTTCTTTCTTTCTTTTTTTGAGACAGC ATCTTGCTCTATCAACCAGGCTGGAGTGTAGTGGTGTGATCATAGCTCAT TGCAGCCTCAGACTCCTAGGCTCAAGCAATCCTCCCACCTCAACCTCCCA AAGTGCTAGGATTACAGATATGAGCCACCATGCCTAGCATATAGCCAACT TTTTAATTTCTACTCATTCTACTTTCAGTTCTAGTGAATTTTATAAATGT AAACAAATACGTCACTTTCCTGCTTAAAACCCTTCAGTGTCAATGCTCCC TACTGCTCTTGGCTGACAGGACTTTGATAAAGCCCCAGACACCTCCACAC TCTATGCTCCTTCCTGAAATGCATCATGTTCTTTCTCATCTTCCGACCTA ACCCTGTGGTGTCTATGCCTCAACCCCTCCCCTACCACCACCTCCTGCTG CCAGCCCTTAACCCAGACAACTCCTCACTCAACCTTCAGGTCTCAGTTTA TAAGCCCTTCTTTAAATAAGCTTTTCCTGACCAACCAAGACCAGCTAAAT CCTCCTTGTTTTTCCTCTTCTAAGACTGTGTACTCACCCTATACCCAAAG TACTTACCATGCTCCTATAATTATTAACTTATGGAGAAAAATTAATAATA ATTATTATTATCCCCAACTAGATTATTATCCCCAACCTGAATGGGATCCA TGGGTTATTAGGAACTGTCTATCTTAGGTACTGTTCCAGGTACCTAACAC AGGGCATGGCAAAATACTCACTCCGTGAGTGAATGTACCAAATTTATAGT AGTTATCACGACACAGCCAAACTTTAATAGCCTCTCTTGACTCTCTATTT CCAGACTCTCCAAGTTCCAGTCTATCTGCAGCTAGAGTTTTCAGTGATTT AGTTTCAGTGATTTAGTTTCACAGTACCTAGGACAGACATACAGTTGGCC CTCTGCATCCATGGGCAGATTCAACCAACTGTAGATAGAAAATATGAAGG GGGAAAAATGGATGGCTGTGTCTATACTAAGCATGTACAGAATTTCTTCT TGTCATGATTCCCTAAACAATACAGTATTAACAACTATTTACATAGATTT ACATTGTAGTAGGTTTTATAAGTAATCTAGAGATATTTAAAGTATAAAGG AGGATATGTATAGGTCATATGCAAACACTATACCATTTTATATAAGGGAC TTGAGCATCTGTGGATTTTTCTTTTCTTTTCTTTTCTTTTTGAGACAGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTCGCCGGCTAAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02109.hp2 HG01496.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0017 a0001c0001t0014 a0001c0001t0017	a0001c0001t0014g0254 a0001c0001t0017g0261 a0001c0001t0014g0254 a0001c0001t0017g0261	2	340	0.0059	-1741	c.174 others(19): Show c.1746+1682_1747-1334del	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	15/15			chr20	TogoVar
TLDC2_chr20_36871138_36899235	36894399	ATTTTTGT others(1734): Show ATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGATGG TCTCGAACTCCTGACCTCAGTAAAGGCAATCATTTAGGCCAGGCGTGGTG GTTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAAGCAGGTGGATCAC TTGAGGTCGGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACCCCGTC TTTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACGTGCCTGTAGT CCCAGCTACTCAGGAGGCGGAGGCAGGAGAATCACTTCAACCCGGGAGGT GGAGGTTGCAGTGAGCTGAAACTGTGCCACTGCACTCCAGCCTGGGCAAC AGAGCAAGACTCTGTCTCAAAAAAAAGTCATCCTATTGTCATGATACTTG TACTTAAAGGCCTATCTCAAAATCAACAGTATTTATTTGTCTTTAAACTC ATCTCTATTTCTACCCAGCTTGCTTTCTTTCTTTCTTTTTTTGAGACAGC ATCTTGCTCTATCAACCAGGCTGGAGTGTAGTGGTGTGATCATAGCTCAT TGCAGCCTCAGACTCCTAGGCTCAAGCAATCCTCCCACCTCAACCTCCCA AAGTGCTAGGATTACAGATATGAGCCACCATGCCTAGCATATAGCCAACT TTTTAATTTCTACTCATTCTACTTTCAGTTCTAGTGAATTTTATAAATGT AAACAAATACGTCACTTTCCTGCTTAAAACCCTTCAGTGTCAATGCTCCC TACTGCTCTTGGCTGACAGGACTTTGATAAAGCCCCAGACACCTCCACAC TCTATGCTCCTTCCTGAAATGCATCATGTTCTTTCTCATCTTCCGACCTA ACCCTGTGGTGTCTATGCCTCAACCCCTCCCCTACCACCACCTCCTGCTG CCAGCCCTTAACCCAGACAACTCCTCACTCAACCTTCAGGTCTCAGTTTA TAAGCCCTTCTTTAAATAAGCTTTTCCTGACCAACCAAGACCAGCTAAAT CCTCCTTGTTTTTCCTCTTCTAAGACTGTGTACTCACCCTATACCCAAAG TACTTACCATGCTCCTATAATTATTAACTTATGGAGAAAAATTAATAATA ATTATTATTATCCCCAACTAGATTATTATCCCCAACCTGAATGGGATCCA TGGGTTATTAGGAACTGTCTATCTTAGGTACTGTTCCAGGTACCTAACAC AGGGCATGGCAAAATACTCACTCCGTGAGTGAATGTACCAAATTTATAGT AGTTATCACGACACAGCCAAACTTTAATAGCCTCTCTTGACTCTCTATTT CCAGACTCTCCAAGTTCCAGTCTATCTGCAGCTAGAGTTTTCAGTGATTT AGTTTCAGTGATTTAGTTTCACAGTACCTAGGACAGACATACAGTTGGCC CTCTGCATCCATGGGCAGATTCAACCAACTGTAGATAGAAAATATGAAGG GGGAAAAATGGATGGCTGTGTCTATACTAAGCATGTACAGAATTTCTTCT TGTCATGATTCCCTAAACAATACAGTATTAACAACTATTTACATAGATTT ACATTGTAGTAGGTTTTATAAGTAATCTAGAGATATTTAAAGTATAAAGG AGGATATGTATAGGTCATATGCAAACACTATACCATTTTATATAAGGGAC TTGAGCATCTGTGGATTTTTCTTTTCTTTTCTTTTCTTTTTGAGACAGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTCGCCGGCTAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02109.hp1 HG01496.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0141 a0001c0002t0001g0022 a0001c0002t0001g0141	2	384	0.0052	-1741	c.15 others(11): Show c.1556_*3296del	TLDC2	ENSG00000101342.10	transcript	ENST00000217320.8	protein_coding		165		chr20	TogoVar
CYP20A1_chr2_203234018_203311026	203263258	GGATTACA others(1733): Show GGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTAAATT TTAGGCGGAGTCTCCCTCTGTCGCCAGGCTGGAGTGTTGTGGCGCGATCT CGGCTCACTGCAACCTCCAACTCCGTGGTTCAAGTGATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCAGGCCTGGCTAAT TTTTGTATTTTCAGTAGAGAATGGGTTTCACCATGTTGGCCAGGATGGCC TCGATGTCCTGACCTCATGATCTGCCCGCCTCGGCCCCCCAAAATGCTGG AATTACCGGCGTGAGCCACCGCTCCCGGCCCGTATGCAAGTTTTGATGTG CTATATTTCCATTATCATTTAGTTCAAAATAGTTTCTAATTTCCATTGTG CTTTCTTCTTTAGCTTAAGGGTTATCTACAAGTATAGTGCTTAAATTCCA GAAAGGTAGAATTTTTCTAGTTATCTGTTTTGTATTGATTTCTAGCTTAA TTGCACTAATGGCAGAGAACCAATGATTTCAATCCTTTGAAATGTCTTTG AGACTTGCTCTGTGTCCCTGCATATGGTTGTTTTTGGTAAATAAAATGGT GTGCTCTGTTACTGTTGTTGATCTTTTTTATACGCTTGTTCTTTTTAGCT GCTGAGAGGAGTTTTCTTCCTCTGTAATTGTGGATTTGTGTATTTTTTAT TTTAGCTCTGTTGAGCTCTGTCAGGTTTTTGTGTGGGGGGCGTGGGTGTT TTGTTTTTGTTTTAGAGACATTTCTTGCTCTGTCACCCAGGCTGGAATGC AGTGGTGTGATCATGGCTCAGTGCAGCCTTGAACACCTGGACTCAAGCGA TCCTCCCAAGTAGCTGGTACAGGTGTGCACCCCATGCCTAGCTAACTTTT AATTTTTTTTGTAGAGTTGAGGTATCACTGTGTTGCCCAGGTTTGTCTCA AACTCCTGGCCTCAAACAGTCCTCCCACTTTAGCCTCCTAAAGCTCTGGG ATTACAGGCATGAGCCACCGTGTCTAGCCTCTGTCAGTTTTTGGTTTATA TGTTTGGAAGTTAGGACATTGAATGTTTTCCAACTTAGTCTTATTATATA TTCTTGGTACTGACTACTTTGTCGTTATGAAATATCCCTCTTTATCTCTA GTAATATTTCTTGCCTTAAAGTTTATTTTTCCTGATATTAACTCCACTAG CTTTCTTTCAGTTAGTGTTTAATGTTTTATTGTTTTTCATTATTTTACTT TCAACCTCTCTGTCATCATAATTGGAGGATTTCTCCTGGGACTAGTATAT AGTTGTATTTTTTTAATCCAGCCTATTTTAATCTTTTAATTGAAATATTC TGTTCATTTATAGCTAATGAAATTTCTGATGCACATGGGTTTAAATTTTA CTCTTTGTATACCATTTGCTACTTGTTTTCTATTTGAGCTACCTCTTTTA TACTTTTATATTTTTTTTATATTTCCTTTCTTTCGTTTTTTAGACGGAGT CTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTG CAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGATGCTTGCCACCACACCCGGCTAATTTTTGGTATT TTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTTGATCTCC TGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03195.hp1 HG03130.hp2 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0145 a0003c0003t0146 a0003c0003t0145 a0003c0003t0146	a0003c0003t0145g0019 a0003c0003t0146g0020 a0003c0003t0145g0019 a0003c0003t0146g0020	2	334	0.0060	-1740	c.433 others(17): Show c.433-3228_433-1489del	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM151B_chr5_80483100_80547563	80544920	CAAAATGT others(1733): Show CAAAATGTGAAAGCTAAAACCTTAATGCATTTAGAAGAGAATAAGGGAGA ATGTTTTCAGGACTTTGGGGTAGGCATAGGTTTCTTGTAACCCAGAAAAC ACTAGCCATAAAAGGAAACATTGATAAATAGACTTTATCAAAACTTAAAA CTTCTCAGAAAAGACACCATTGACACATATCTGACAGAGGGTATATTACT CCTTTAAACTATAAGAAAAAAACCCAAAAAACTGACTAAAAATGGGCAAA AGACTTGAATAGATACTTCACACAAAAAAAATAATTCAGATGGCCAAAAG AATATGAAAAGGAACTCAACAGTATTCCTTATTCAGGAAAGACAAGTTTA AGCCACAATAAATGCCAGTACATACCCACCAGAGAGGTTAATATTATAAG GACTAAAAACACCTTTTAGGAAAAAAAGGAAAACAGTTTGGCAGTTTCTA ATAAAGATAAGTATATCTCTACCTTAAGACCCAGCCACTCTATCTGTAGC CATATACTCAAGAGAAAAGAGCTCATGTATTTACATTAAAAGACTTGTAA AAGAATGTTCATAAAAACTTAATAGCCAAAAACTAGAAACAACCCCAATT TTCATCAGTAAGAGAATTTATAAATAATGGTAGACTCATACAATGAAATT ACTACACAGCACTAAAACAGTTTGAACTGATGTAACAATAAAGGTTATTA ACAACATCATGCAAAAAAAAAGGCACAAATGAATACATATTCTCTGGATC CATTTATATGAAGTTAAATAATAGTCAAAACTAATACATGGTGCTAGAAG TCAGAATAGTAGTAACCTATACGGTTCTGTCGGGTTTTGTCTGGGATGGA GCATGTTGGAACTTTTTTGGGTGTTGAAAATGTTCTCTATCTTGTTCCGG GAAATGGTTATTTTGATGTGTACATAGGCAAGGCAAAAAACTTATTGAGT TGTCACATTTAATATTTGTGCATTTTACTGTATGTAAATTATATATCCAT TTTCAATATATTTTAAAGGCCTTGATGTACAGAAATGCAATAGAATACTA TGCAGAAACTTTTTAAAATTTTTTATTTTTTTGATACAGCATCTCGCTCT GTTGCCCAGGCTGGAGTGCAGTGGAATGATCTCGGCTCACTGCAACTTCT ACCTCCCAAGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGG ATTACAGGCATGTGCCACCATGGCCAGCTAATTTTTTTGACTTTTGATAG AGATGGGATTTCACCATGTTGGCCAGGCTGATCTCACACTCCCGACCTCA GGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAG CCACTGTACCTGGCCCAACCTTTATTAATGTGGGAAGATGTTACAGCATA CTGCAGGTTGTAAAAGAGCATATATATGGCCAGGCATGGTGGCTCACACC TGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACAAGGTCAGG GAGTTCAAGGCCAGCCTGGTCATCATAGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAATCCCAGCTGC CCAGGAGGCTGAGGCAGGAGAACCGCTTGAACCCAGGAGGCAGAGGTTGC AGTGAGTGGAGATCACGCCACTGCACTGCAGCCTGGGCGACAGTGTGAGA CTCGGTCTCAAAAAAATATATATATATAGATAGATTTAAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	356	0.0028	-1740	c.30 others(11): Show c.3089_*4828del	FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding		2358		chr5	TogoVar
DLGAP2_chr8_732628_1713476	1404230	CCTCATCG others(1732): Show CCTCATCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTC CTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCA TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCT CCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAG AGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGT ATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTG CTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTA CTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGA GCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGC CACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACC TCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCT CGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTC CTCCAAAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCC AGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTTGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCATCGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCC CCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTC CTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTG TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCT CCAGAGTCGTACTAACTGAGCGCTCCCACCTTGTCCTCCAGAGTCGCGTA ACTCAGCGCTTACTGAGCGCCACCTCCTTGCCCTCCAGAGTCGTGTATTG AGTGCGCACTGAGCGCCACCTCCTCATCCTCCAGGGTAGTGTATTGAGTG CTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTA CTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGA GCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGC TCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACC TCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCT TGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	-1739	c.107 others(19): Show c.107-97132_107-95394del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
TTC28_chr22_27973014_28684840	28671374	GCCTGTAA others(1732): Show GCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACGAGGTC AGGAGATCGAGACCATCCTATCTAACACAGTGAAACCCCATCTCTACTAA AAATACAAAAAATTAGCCAGGCGTGGTGGCGGGAGCCTGTAGTCCCAGCT ACTCAGGACACTGAGGCAGGAGAATGGCGTGAACCCGGTAGGCAGAGCTT GCAATGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAACAA GACTCCATCTCAAAAAAAAAAAAAAAAAAAATTTCTTCCATTATGTGGAT TTTGTTTTCATTTTTTTTTTGAGACAGAGTCTTGCTTTGTCGCCCAGGCT GGAATGCAGTGGCCCAATCTCAGCTCATTGCAACCTCCACCTCCCAGGTT CACATGATTCTCCTGCCTCAGCCACCCAAGTAACTGGGATTACAGGCGCC TGCCACCATGCCCGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCA CCATGATGCCCAGGCTGGTCTCGAACTCCTGACCCCAAGTCATCTGCCCA CCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCACCTGG ACAAAATAAGGCTTTTATCAGAAAATTAAAATAGAAATAAACCATTTAAA ACTAAAACACTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGC TGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTGAGT TCAAGTGATTCTCCTTCCTCAGCCTCCCAAGTAGATGGGACTATAGGCTA ATTTTTTGGGTTGTTTTGTTTTGAGACGGAGTCTTACTCTCTCGCCCAGG CTGGAGGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCAG TTCTCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCGCCTGCCACCA TGCACAGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATATTG GCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCGGCCTC CCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCAATTTTTT GTATTTTTATTAGAGACATGGTTTCACCCTGTTGGTCAGGCTGGTCTCAA TCTCCTAACCTCATGATCCACCCGTCTCGGCCTCCTAAAATGCTGGGATT ACAGGCATGACCCACCACACCTGGCCTAAAATATTTATTACTAAAAATCA ATAATATTTTCTTGCTGTTGAGAAAGAGAAAGCAACAATAATGTCCTTCC ACTCTTTGACTAAATACCAGGAATTATTTTGCTAGACACCAAAAGTCATA TTTGGAGAACTGAAGAGGTAATAATAGTAACTGGAGAGTAGAACAGAAAA AGAGGGCAAGTAGGTGTTGTAGTATGGCTGTAATTGGCCTCACTGTGACC ACTACAGAAAAAACCCTTTTTCATCATAGCTATACTGCCCCTAGGCAAGG ACGTGAAGAACATACCTTATTTTACAAGATTAATAGCGTAAAACTAACAT ATAGTAATCTGGAATGTGATTTTTTGAGATCCCACTTGATAAATAATTGA TTGTAATGAGGATGTGGTTTTGTGGATAAAGAGTAGGATTGCTAAGAAAT AGCAAATGGTCTAAGCACAACAAACCTGACTTTGTGTTGTGGTTTTGCAG GAGTTAAAAAAAGAAGTTGGGCCGGGAGCGGTGGCTCACA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0051 a0001c0001t0038g0051	1	196	0.0051	-1739	c.102 others(17): Show c.102+6509_102+8247del	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	1/22			chr22	TogoVar
ZNF516_chr18_76352682_76500242	76392959	CAGGTGGT others(1732): Show CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03491.hp1 HG03492.hp2 others(3): Show HG00438.hp1 HG03491.hp1 HG03492.hp2 NA18941.hp2 NA19007.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0001t0115 a0001c0001t0159 others(2): Show a0001c0001t0021 a0001c0001t0115 a0001c0001t0159 a0001c0002t0002 a0001c0002t0172	a0001c0001t0021g0159 a0001c0001t0021g0160 a0001c0001t0115g0269 others(3): Show a0001c0001t0021g0159 a0001c0001t0021g0160 a0001c0001t0115g0269 a0001c0001t0159g0211 a0001c0002t0002g0047 a0001c0002t0172g0241	6	346	0.0173	-1739	c.181 others(21): Show c.1811-14395_1811-12657del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
TRAM2_chr6_52492408_52582060	52526846	GGCATGAC others(1731): Show GGCATGACACATGCATTCCATAGGCTGCCTCACGTGAAGAATGCTTACAG CTAGGGGAAGGTGTGAACTTTTTAAAATTCATTGAGAGCTATAAAGAAAA AATAATCTCTCAAGAATCACATACAAAAAAATTTTTTTTAATTAAGGCTT TTTTTTTAAACTTACAGAAAAAATAACAATTTCAACAAACCCACTGTTAA ATTGACAAAAATTATTTCAGTCAAAACAACTGATTAGAAAAAAAAATTAT CCAGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCC GAGGTGGCGGATCACTTGAGGTCAGGGGTTCCAGACCAACCTGGCCAACA TGGTGAAACCCATCCCTACTAACAATACAAAAATTAGCCGGGCGTGGTGG CGGGCGCCTGCAGTCCTTGCTACTCGGGAGGCTGAGGCAGGAGAATAGCT TGAACCCAGGAGGTGGAGGATGCAGTGGGAAGAGATTGTGCCACTGTACT CCAGCCTGGGCAACAGAGCAAGACTCTATCTCAAAAAAAAAAAAAGAAAA GAAAAGAAAAGAAAAAAATTATCCTACCTAGGTAGAAGAAACGATTTGAT CAGGAGAAATAGGAAAGTGAAATTCAAGTAAAGATGTGGGGTGGGGTCCA GGTCAGAAAGGGTGCGGGGTGGGGTGGGGTGGGAGGAAGAGCAAGATGAT TCACTAGGAGAAGACATTTGGGGGCTCAGTGCAGCAGTTCAAAGATGTGG GTCAGCAGGTGCTGGCCACCGTTCCCGCTGACTGCAGGCTTCAGGCTGGT TAACAATCAGCCACAGCCACTCTGTGGTTCTGCTTATTTAAACTGCCACA AGCTCCACATGGAATGGGATAAATTATCAGAGCTACGACAGGGAATTGCA TAAAAATCAAGCTGCGTCTGAAGAAGACACTTCTAGGTTGCACGGAGGTG TTCAGTGTGTGAAAATTCATTGAGCTGAACACATGATTTGTCCACCTTTC TGCACAATTGTTACACTTAATAAGTTTTAGTTATTGGAAAAAAAAATCAA GTCCAGGGCTGGCCATAAGACCTGGGTCAGAGGCTCCCCATTCTTTTTCA GATGGCCAACCAATAAGGCCAGGGACACTGGGGGCCGTGGTTTTTCTCTT ATTCATACAAACAGAACCTCAGGGCCAGAGAGCTTTGTGGCTGTTTGGCT CAACAGGGCCAGGACAGAGCCAAGTCTCTACCTCCCTGGTTGGGACTGCC TATGCCCACTGCCCCATTTGATAAACCCAGCTTTTCTAAAGCTTTCCAGA ACCCTGGTGCTGTACAGGTGTGAGCACCCCAGCCCCTCCTTGGCTCTCGC TGGTGCATCCTTGGGAGCACCAATCAATTCTCTGAGCCTCAGTTTCCTTG GCTATAAAAGGAGCAGGCCAGACTAGATGAGTCTCAAGTCTCCTCCAGGT GTATGGGCCACAGATTAGGTAGCTTTCATCCGTAATCAAGTATGGCTTCC ATCTCCAGAGCCACCGCTGCCCACCTGTCTCTTTCCTTTCTTGACCCCCA TGAGCTCATCTTACAAAGAGGGGCTCAGCTTGATAAGTGATGTCAATCTT TCAAGTATATGATACAAGCAGGAGACAACACTAATTCCTGCCAACCAGCA AAGGGAACAAGAATCATTTTGAGCCCTGGAAAAAGGCCTTTGGCTGAATG AGGCTTTAAAACCATCTGTCTGAGGTTGTTTTGACTGCA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0189 a0001c0001t0058g0189	1	378	0.0027	-1738	c.184 others(17): Show c.184+7199_184+8936del	TRAM2	ENSG00000065308.5	transcript	ENST00000182527.4	protein_coding	2/10			chr6	TogoVar
SCARB1_chr12_124771856_124868864	124791720	GCTGAGGC others(1730): Show GCTGAGGCAGGTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCA ACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTTGCTGGGCGTG GTGGCGGGCACCTGTAATCCCAGCTACGCGGGAGGCTGAGGCAGGAGAAT CGCTTGAACCCGAGGCGGAGGTTGCAGTGAGCCGAAATCGCGCCATTGTA CTCCAGCCTGGGCGACAAGAGCAAGATCCATCTTAAAAAAAAAAAAAGGC TGAAATCCCCCAATCACAATTATTGGAGGTCTCTCAGGCCCCTTGTTAAG TAGGGTATTGCACAGTGAAATGGGCTCACACTATCACCCTACAGAGGACG AAACACGATGGGGAGACAACAGACGGTACCATTTACTTTGGCTGCTTTTC TCTGAAAGACTTTGTAAGAACCAATGGGAATTGTATTCAAGTAACATGCA ACCCCACTGCCTTTACCTAGCGAGCAAGGAGCACAGAAGCTTCCCCGACA GGTCACGAGACAGCTCTGCTTCCCGGCAGCTGTGTCTCTAGACTTTTCCC ACGGCCATCCCTCGTGGCCCTCCACATCTGCTGTTGAGACCACTTTCCTG GAGTGCCTTGTTCCCAGTCCACAGGGAGGTCAGCAGCTGTGCGGCCCAGA GAGGTTGGGTGACCGGTCCACAGGTCACTGGCAGGCACAATCCAGCTGCC CGCGTGAACTGTTTGTTAAGAATGTGAATTAGGCCCAGCGCAGGGCTCAT GCCTATAATCCCAGCACTCTGGGAGGCGGATCACCTGAGGTCACAAGTTC GAGAACAGCCTGGCCAACATGGTGAAATCCTGTCTCCACTAAAAATACAA AAATTAGCTGGGTGTACTAGCGAGCGCCTGTAATCCCAGCTACTTGAGAG GCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGAGGTTGCAGTGAGC TGAGATCATGCCACTGCACTCTGGCCTGGGTGACACGGCAAGACTTCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAGAATGTGAATTACCTCCCAATAA GTAAAAATTGACAGAGCTCCTGTTAAAATTCAGATTTGGAAGTCCTTTTG AAAAATGCAGAGGATGTGGCCACACTGAGCCCGCATTTCCATGGGGCTAC AGTCAGCTGGTGCTGGGAAGGGGCTGTATCCTCGGCCCCAGGTCGCCTCT TCTATCTGGTCACCCACTTGGCCCCAGTTGCATCCCAGTTAGCAGCCCAG GTGCCACGCGGTGGAACCAGAGGGAGGACTTGGGCTGCAAACGCCTCTTC CATGCCTGGGGCTGTTTCCCCACCCACAAATCCATCAAGAACAAATTCCC TAAGTGGCCTCAAAATATAAAAATAAAATGCAAGGGCGGGATGAAGGAAG AGAGCTCACAGTTATTACTCGCTGCCGTGCTCTGACAAAGTGTTATTCTT TCCAGCCGAGAGGCATTTGACAAAGCTGAATAGATGCTCACATTCCTGCA ACCCAGGGATTTTTCTAAGAGAATTTTTTTTAACGAAACTATTTCAGATA TGCTAAGAAGTACAGACACTGACATAGCAACAAATCAGTATAATCCCTCA CCAAGTTCTAGCAACGTGTAATGTTATAGCAAGTGCTGGTGCGCGTGGGG AGGAACTGGAACCCTGCTGCACTGCTGCTAAGAATGGGGATGGGGCCGGG CGCGGTGCTCACGCCTGTAATCCCAGCACTTTGGGAGC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	356	0.0028	-1737	c.120 others(19): Show c.1202+1738_1202+3474del	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	9/12			chr12	TogoVar
ZNF106_chr15_42407823_42496141	42460595	CCACGCCT others(1730): Show CCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCT GAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCCGTTTC TACTAAAAATACAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTAATCCC AACTACTTGGGAGGTTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGA GGTTGCGGTGAGCCGAGATTGCACCATTGCACTCTAGCCTGGGCAACAAG AGCAAAACTCCGTCTCAAAAAAAAAAAAAAAATTAACACTAAAAATAATT TTTCAAAAACCAAATCCCTAACATTTTTCTTATAAATAAAATCCAGTTTA AAATAGAAACTTTGCAAGAAACTTCAAAAAAAAACTTTATAAGAAACTTC AAAAAGAGAAACTTCAAAAAGTGTGTAGGGGTAATATGGTTACCTCCACA CACATCTGCGTTTTCAGGAGATGTGGTTATACTACCCTGTTCTTTCTCTA TGTAGCCACATCTTCTGAAAATTCAAGTGTGTGTGGAGTAAGCATATTAC CTCTATTACCTCTGTTCTCTACACAACAGGCATTCATGCTTCAACATAGT GTTTGGGAAACCATGTTTTAAAAGCCTAATAGCAAGTTAATATTTTAATG AGGTTACTTGATAATTATTTATTAACAATCAGTTAAAATACTTACTATAC TGTGTGAATAAATAAAATAATCACGGGGGAAATGTACAGCTTTGCTCCTT GGCTAGCAAAGGCAATAATTTTCCTTAGGGCATTTAAAGGAGGGCCTAAA TTAGCTTCATCCTGTTACCACACAATTTCCTCTCATGTGTGAAACACAAA GTCTTAAGATACTCTCTCCATAAGCTTTTCTTTATTAAGCTTGCTCTAAC TACCCGACAACAGCTGCTGAATAAATAAAGGTTTGTGCCTTTTTAATAGT CTCTATCTGGAGATGTTACTTACGGCCCACACATCTGAAGAAGTATATTA GGAAAAAATAGGGAAATGTTTCACATGTCCACAGCCATGAACCAAGTAAG ACCAGTTACTTATTGCTTATTCAAGCTTGCTGCAAAGCCTAAGTAACACA TACTTTGCAATTCTTAACCAGATCACAACCAAAAACTGTAGACACAACTA TAAAGAGAAAAAGAAAGTCTCAGTGTCAGAAACCCAGTAGTTAAAAATGA AATCCAGAGGAAATAATCACAAACTCAGGATAACAGGGTAAAGAAATAAT GACTGATAATTATTTGTCCCTATGGTACAAGCTGGTGAAGACCGTCCTTA CAGTAAATGCTCCAAGTCCGTAAACAATTTTTGAGATTTTATGGGGTTTT CTATAATTTTGTAAGCTGGTTTTTCTTGCTACCTGTTTGTCTTCTCTCTT ATATGTAACATGATTTGTTACAGGTCAGGAACACTATATCCAATATGTGA GTAAATAAGTACTAAAGGCTATCCTCTAAAGAAAATGAGTTTGGGTGCGA AACCTGACATTCCCATTGGCAGCTCAGGGAGGCTTTTAGTGCCTTTTTCC TAATTATTTTACTGTGATCCACATAATTTAAAATGGTAGATAAAATCTCC ATAGCACAGTGTAGTTGCATGGGTGGAAAAGAACACATTACAGAACAAAA CATAAATGACAATGTGGTTCATTAAGTTAACATCACAAAACAAAATGTGT ATCTATAAATATAAATGTATAGGCCAGGCGCGGTGGCT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0027 a0002c0003t0004g0027	1	264	0.0038	-1737	c.116 others(17): Show c.116+3721_117-3438del	ZNF106	ENSG00000103994.18	transcript	ENST00000564754.7	protein_coding	3/21			chr15	TogoVar
RTN4IP1_chr6_106565771_106634498	106597565	AATCGCTG others(1729): Show AATCGCTGAGCTCAAGCAATCTGCCCTCCTCAGCCTAGCAAAGTGCTGGG ATTACAGGGTGAGCCACTGTGCCCAGCCTATCTTTTTGTTTCTTTTGTAA TTTGAATTTTTTTCTGCATTTTGTTTCTTTTTTTTTTTTTTTAATTATAC TTTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTA TACATGTGCCATTCTGGTGCGCTGCACCCACTAACTCGTCATCTAGCATT AGGTATATCTCCCAACGCTATCCCTCCCCGCTCCCCGCACCCCACCACAG TCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTC AATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTCTGTTCTTGC GATAGTTTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAA GGGCATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATA TGTGCCAAATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGG TTCCAAGTCTTTGCTATTGTGAATAATGCCGCAATAAACATACGTGTGCA TGTGTCTTTATAGTAGCATGATTTATAGTCATTTGGGTATATACCCAGTA ATGGGATGGCTGGGTCAAATGGTATTTCTAGCTCTAGATCCCTGAGGAAT CGCCACACTGACTTCCACGATGGTTGAACTAGTTTACAGTCCCACCAACA GTGTAAAAGTGTTCCTATTTCTCCACATCTTCTCCAGCACCTGTTGTTTC CTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATA GTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTT CATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCA TGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTCCTTGTAAATT TGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTA GGTTGCGAAAATTTTCTCCCACGTTGTAGGCTGCCTGTTCACTCTGATGG TAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTG TCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTC CTTGCCCATGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGG TTTTTATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTG ATTTTTGTATAAGGTGTAAGGAAGGGATCCATGCATTTTGTTTCTATTAA GGAGCATTATGTGTTGTGTTTACTTGCTATTGAGTTCCTCTTAGTTTAGT CTTCTATTACTAAATGATTTTTTCATTTAGTTTTACTTTTTTCCTGATTT TTTCCTATTCTGATTTATTTTGTTTTTTTCACATCTTGTATTATATTTTT AATGTCTTTTAACTTGCTTTGAAATAGTAGGTGACATTTCAGGCTGTTCT GTAGGCATGTATTCTGATGTGCTTTTATTATAGGGCATGTTATTCTATAC CTTATTTTCCCTTTCCTTATAATAGCTTTGTATGGGATTTAACCTTGATG CTTTTCTATTACTTTTTAATTTTATTAAAATTTTTTGTTGTAAAATATAA TACAAATAAAAGCATACAGAATATAAATATACAGCTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0206 a0001c0003t0004g0206	1	396	0.0025	-1736	c.669 others(17): Show c.669+3573_670-5266del	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	5/8			chr6	TogoVar
ARHGEF10_chr8_1818926_1963641	1888850	TTGTGAGG others(1728): Show TTGTGAGGAGACACTGAGTGGGGTGAGAGTTATGAGGAGACACTGAGTTG GGTGAGGGTTGTGAGGAGACAGTGGGGTGAGGGGTCTGTGACGAGACACT GAGTGGGGTGAGGGGTCTGCGAGGAGACACTGAGGTGTGAGGGGTCTACA AGGAGTCACGGAGTGCAGTGAGAGTTGTGAGGAAACATGGAGTGGGGTGC GGGTCATGAGGAGACAGTGATTGGGGTGAGGGGTCCGTGAGGAGACACTG AGTGGGGTGTGAGGGGTCTGTGAGGAGACACTGTGAGTGGGGTGAGGGTT GTGAGGAGACGCTGAGTTGGGGGGTTGTGAGGAGAGCGTGGGGTGAGGTT TATTAGGAGACACTGAATGGGGTGAGGGTTGTGAGGAGACATTGAGTGGG ATGAGAGGTGTGAGGAGACACTGAATGTGGTGAGGGTTTGTGAGGAGATA CTGCATGGGGTGAGCTTTCTTAGGAGACACTGAGTGGGTAAGAGTTGTGA GGAGACACTGAGTGGGGTGAGGGGTATGTGAGGAGACAGTGATGTGAGGC ATCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGA GTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTG AGGAGACACTGAGTGGGGTGAGGGGTATTGAGGAGACACTGAGTAGGGTA AGGAGTCTGTGTGGAGACACTGAGTGGGGTGAGGGGTTTGTGAGGAGACA CTGAGTGTGGGTGAGGGGTCTGTGAGGAGTCATGGAGTGTGGTGTGAGTT GTGAGAAAACTCGGAGTGGGGTGAGGGTCGTGAGGAAACAGTGGGGTGAA GGTTTGTGAGGAGACCCTGAGTGGAGTGAGGGTTGCGAGGAGACATTGAG TGGGATGAGGGTTGTGAGGAGACACTGAGTGGGGTGAGGGTTGTGAGCAG ACACTTCATGGGAGGAGGGTTTGTGAGAAGACACTAGGTGGGGTGAGGTT TGTGAGGAGACACTGAGTGTGGTGAGGGTTTGTGAGGAGACACTGCATGG GGTGAACTTTGTTAGGAGGCAGTGAGTGGGGCGAGGGTTGTGAGGAGACA CTGAGTGGGGGAGGGGTATGTGAGGAGACACTGAGTGATGTGAGCAATCT GTGAGGAGACACTGAGTGCGGTGAGGGGTATTGAGACACTGAGTGGGGTA AGGAGTCTGTGCGGAGACACCGAGTGTGGTGTGAGGGGTCTGTGAGGAGT CACCGAGTGCCGTGTGAGTTGTGAGAAAACGGAGTGGGGTGAGGGTTTGT GAGGAGACACTGAGTGGGGTGAGGGTTTGTGAGGAGACACTGAATAGGGT GAGGGTTGTGAAGAGACACTGAGTGGGGTGAGGGTTTGTGAGGAGGCACT GAGGGTTGTGGATTGTGAGGAGACATTGAGTGGGGTGAGGGTTCTGAGGA GACACTGATGGGGTGAGGGTTGTGAGCAGATACTGAGTGGGGTGAGAGTT GTGAGGATACACTGAGTTGGGTGAGGAGTCTGTGAGGAGACACTGAATTG GGTGAGGGTTGTGAGAAGACACTGAATGGGTTGAGGTTGTGAGGAGACAG TGAGTGGGGTGAGTGTTGTGAGGAGACACTGAGTGGGGTGAGGGTTGTGA GGAGATTCTGAGTGGGGCGAGACGGGTCTCTGAGGAGACACTGAGTGGGG TGAGAGTTTTGAGGAGTCACTGAGTGTGTAAGGGTC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0021 a0001c0002t0049g0021	1	363	0.0028	-1735	c.118 others(19): Show c.1182+3162_1183-2966del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ITGA9_chr3_37447141_37828507	37756931	AAAGAAAT others(1727): Show AAAGAAATCAAAGTTGAAGGGATGAACAAATTAGAAGTGAAAGACAGTGA GCGGTTGTTCATATCAAAACCAATGGGATTTAGACAAAACCAACACAGAG GAAAATGCCACTACTTACATGTGGAAAATAGGGAAGACTGAAAATAAGTG AACTAAATTGACAACATAAAAACTAGACAAGGGACAATGAAATAAACCCA ACTCAAAGAAAGTAAAATGAAGGTATTATTAAAGACAAAGCATATCCTGA AATAGAAAAAATAATAACAACAAAAGTATTCCACATTAGCAAAATCAAAA GCTGTTTTTTTGTCCAAAAAAATAGACAAACCTGCAGCAAGCTTCAACAA GAAATAAAGAAGAGCGATGATGCCAAAAAACAACACTAGAAATACTTTTT AAAGAAGTACCATACTTATATGAAGATTTAAAATTTATAACATCTTTTGA GCTGGGCATGGTTGGCTCATGCCTGTAATCCCAGGACTTTAGGAGGCTAA GGCAAGAAGATCCTTGAGCCTAGGAGTTCAAGACCAGCCCAGACAAGGAA GTAAGACCTTGTCTCCACAAAAAATAAAAAACAAATTAGCCAGGCATGTG GCATAAACTACTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGTCCAGAAG GTCAAGGCTGCAGTGAGCCATGTTCACACCACTGTACTCAAGCCAGGATG ACAGATCCTGTCTCAAAAAAACAAAAACAAAACAAAAAAATCTTTTCAAT TTTATTCACACAAAGATAAAATCTGAATAAAATATGCATGAGGTTAAAAA AAAAGTCCAACTAGACTATCTTAGAAAAAAATGTAAAAGTAGACAAAGAC CTATATCTTAAAAAAAATCACCGACCCAGATAGCTATATAGGCAGATTCT AGTAGGCTTTCAAGGAATGGATAATTCTTATGTTAATATAAGCTGTTCCA GAGAGTAGAAAAAGATAAAGAAACTCATTCCAGAAAACTAACATAGCCCT GGTACAGAAACCAGAAATGGAGAGCGGGCACACTCACGCAAAAATAGGAA GCAGTGAGCCAAACTCACTTTGAAAACAGATACAAAAGTTCTAAATAAAT TGCAAATTGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCGGTGGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAATTGCAAATTGATTCCTATTAGAAGAAT AATATAGTCTGGGTAAAACAGGATGTAATCCAGGAATGCTAAGTTGGTTC TCCATGAGGAAACTGATTAATATAACTCATTATATATTATTATTAATAAT AAAAGGATTAAATGAAAAATAACCAAATGATAATCTTGATAAGGGTTTCT AAAAAGTTAAAAATTAAATTCAACATTTATTTATGATATTTTATTACATT TCCAGTAAGGAAAGCATAGAAGACTTCCTCAACTTGACAAAGACCCTTTG CCAGAAACCTATAGGAAACTTCAAGCTAAGTGAGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp2 HG03516.hp2 others(1): Show HG01109.hp2 HG01192.hp2 HG03516.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0031 a0002c0002t0007 a0002c0002t0031	a0002c0002t0007g0039 a0002c0002t0007g0129 a0002c0002t0007g0130 others(1): Show a0002c0002t0007g0039 a0002c0002t0007g0129 a0002c0002t0007g0130 a0002c0002t0031g0153	4	168	0.0238	-1734	c.254 others(19): Show c.2541+6365_2541+8098del	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ADARB2_chr10_1172313_1742525	1235637	CCCCTCTG others(1724): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCT TTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCG AGAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTC CCACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGG ATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGA CGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTG TAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTG GCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAG AGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCA CCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTG GGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGT CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCG GTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGC CATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGA TTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCC CCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCC TTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCC TCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATTCCCTCT TGCCTCCGGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCCCCCCTG CCTCCGGGTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCCCCTGCC TCCGGGTGTTAACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCTCTGCCCTCCCGGTGTTTACTCCCCCCTGCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	106	0.0094	-1731	c.136 others(19): Show c.1362-3523_1362-1793del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ASMT_chrX_1610059_1648081	1639631	AGATAGGG others(1724): Show AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGA TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC CAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTC ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT CCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG TCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC CTGTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGGGCACAGCCTC TGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT GATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATG TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG AGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC CATTAGGATGTGGACACAGCCTCTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0175	1	223	0.0045	-1731	c.910 others(17): Show c.910+3091_911-1422del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1638694	ACATGAGG others(1723): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGG ACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAG GACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTG TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGT GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT GTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGT GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGC ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0183 a0002c0002t0002g0183	1	223	0.0045	-1730	c.910 others(17): Show c.910+2148_911-2366del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639498	GTCCATCC others(1723): Show GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT CCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACA GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG ATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC CCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGC ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT GATGGGGACAGTGTCCCAGTGTCCTGTGAGA	G G	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	223	0.0045	-1730	c.910 others(17): Show c.910+2946_911-1568del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639517	ACATGAGG others(1723): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGAC GTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGA GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGC ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00597.hp1 others(24): Show HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00733.hp1 HG00733.hp2 HG01081.hp2 HG01346.hp2 HG01981.hp1 HG02004.hp2 HG02080.hp2 HG02148.hp2 HG02293.hp2 HG02523.hp2 HG02622.hp2 HG03834.hp2 HG03927.hp2 HG04204.hp2 NA18939.hp2 NA18942.hp1 NA18956.hp1 NA18969.hp2 NA18975.hp2 NA18981.hp2 NA19062.hp1 NA19064.hp1 NA19074.hp1 NA19081.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0010 a0004c0004 a0011c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0010t0001 a0004c0004t0001 a0011c0008t0001	a0001c0001t0001g0025 a0001c0001t0001g0058 a0001c0001t0001g0061 others(24): Show a0001c0001t0001g0025 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0002g0120 a0001c0001t0002g0167 a0001c0001t0002g0176 a0001c0003t0001g0113 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0066 a0002c0002t0001g0089 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0185 a0002c0002t0001g0222 a0002c0002t0002g0131 a0002c0002t0002g0146 a0002c0002t0002g0156 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0010t0001g0010 a0004c0004t0001g0169 a0011c0008t0001g0034	27	223	0.1211	-1730	c.910 others(17): Show c.910+2971_911-1543del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCSK5_chr9_75885673_76367975	76305009	CATTTTAG others(1722): Show CATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCC ATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCA CAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGA AAGTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAA GCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGG CAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAG TTTAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTA TCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTC ATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCA TGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCAC AACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAA AGTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAG CACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGC AGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGT TTAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTAT CTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCA TTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCAT GTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACA ACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAA GTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGC ACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCA GAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTT TAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATC TCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCAT TTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTAGCCATG TGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAA CAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAG TAGGATTCTGAGAGTTTAATTACTGTAGCCATGTGCCCCTATGTTAAGCA CTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAG AATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTT AATTACCGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCT CATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATT TTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCATGT GCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAAC AATCCTATAAGGGCAGAATTATTTTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp2 HG02723.hp2 others(9): Show HG01243.hp1 HG02622.hp2 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp1 NA19043.hp2	a0003 a0006 a0015 others(6): Show a0003 a0006 a0015 a0018 a0022 a0029 a0036 a0037 a0041	a0003c0098 a0006c0014 a0006c0067 others(8): Show a0003c0098 a0006c0014 a0006c0067 a0015c0023 a0018c0069 a0018c0089 a0022c0024 a0029c0034 a0036c0050 a0037c0086 a0041c0075	a0003c0098t0017 a0006c0014t0048 a0006c0067t0001 others(8): Show a0003c0098t0017 a0006c0014t0048 a0006c0067t0001 a0015c0023t0018 a0018c0069t0003 a0018c0089t0003 a0022c0024t0004 a0029c0034t0013 a0036c0050t0015 a0037c0086t0001 a0041c0075t0004	a0003c0098t0017g0043 a0006c0014t0048g0115 a0006c0067t0001g0058 others(9): Show a0003c0098t0017g0043 a0006c0014t0048g0115 a0006c0067t0001g0058 a0015c0023t0018g0111 a0018c0069t0003g0063 a0018c0089t0003g0099 a0022c0024t0004g0071 a0022c0024t0004g0072 a0029c0034t0013g0131 a0036c0050t0015g0116 a0037c0086t0001g0159 a0041c0075t0004g0080	12	166	0.0723	-1729	c.360 others(19): Show c.3605-3194_3605-1466del	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	28/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
GALNT9_chr12_132191372_132334589	132303737	ACACACCC others(1721): Show ACACACCCTCACCCGGGCACACCCTCACCGGGGCACACCCTCACCCGGGC ACACCCTCACCCAGACACACCCTCACCCGGGCACACCCTCACCGGGGCAC ACCCTCACCCGGACACACCCTCGCCCAGACACACCCTCGCCTGGGCACAG CCTCACCGGGGCACACCCTCACCCAGACACAGCCTCGCCCAGACACACCC TCGCCCGGGCACACCCTCACCTGGGCACAGCCTCACCGGGGCACACCCTC ACCCAGACACAGCCTCACCTGGGCACACCCTCTCCGGGGCACACCCTCGC CCGGACACACCCTCACCCGGGCACACCCTCACCTGGGCACAGCCTCACCG GGGCACACCCTCACCCAGACACAGCCTCACCCGGGCACACCCTCTCCGGG GCACACCCTCGCCCGGACACGCCCTCACCGGGGCACACCCTCACCCAGAC ACGCCCTCACCCAGACACGCCCTCACCTGGGCACATCCTCACCGGGGCAC ACCCTCACCCAGACACACCCTCACCCGGGCACACCCTCGCCCGGGCACAC CCTCGCCCGGACACACCCTCACCCGGGCACAGAATCGCCCAGACACACCC TCGCCTGGGCACACCCTCACCCGGGCACAGCCTCACCCGGGCACACCCTC ACCGGGGCACACCCTCACCCAGACACGCCCTCACCCGGGCACAGCCTCGC CCGGGCACACCCTCGCCCGGGCACAGCCTCGCCCGGGCACACGCTCACCC AGACACACCCTTGCCCGGGCACACCCTCGCCCGGACACACCCTCACCCGG GCACAGAATCGCCCAGACACACCCTCACCGGGGCACACCCTCGCCCGGAC ACGCCCTCACCCGGGCACAGCCTCACCCGGGCACAGCCTCACCGGGGCAC ACCCTCGCCCGGACACACCCTCACCCGGGCACAGCCTCGCCCGGGCACAC CCTCGCCCAGACACACCCTCACCTGGGCACAGCCTCACCGGGGCACACCC TCACCCAGACACAGCCTCGCCCGGGCACACCCTCACCCGGGCACACCCTC GCCCAGACACACCCTCACCTGGGCACACCCTCGCCCGGGCACACCCTCGC CCGGGCACACCCTCACCCGGGCACAGAATCGCCCAGACACACCCTCACCG GGGCACACCCTCGCCCGGACACGCCCTCACCGGGGCACACCCTCACCCAG ACACGCCCTCACCCAGACACGCCCTCACCCGGGCACACCCTCACCCGGGC ACACCCTCACCCGGGCACATCCTCACCGGGGCACACCCTCACCCAGACAC ACCCTCACCCGGGCACAGAATCGCCCAGACACACCCTCACCTGGGCACAC CCTCACCCGGGCACAGCCTCACCCAGACACGCCCTCACCCGGGCACAGCC TCGCCCGGGCACACCCTCGCCTGGGCACAGCCTCGCCCGGGCACACGCTC ACCCAGACACACCCTTGCCCGGGCACACCCTCGCCCGGACACACCCTCAC CCGGGCACAGAATCGCCCAGACACACCCTCACCGGGGCACACCCTCGCCC GGACACGCCCTCACCGGGGCACACCCTCACCCAGACACGCCCTCACCCAG ACACGCCCTCACCCGGGCACACCCTCACCCGGGCACACCCTCACCCGGGC ACATCCTCACCGGGGCACACCCTCACCCGGGCACACCCTCACCCGGGCAC AGAATCGCCCAGACACAGCCTGACCTGGG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp2 HG02135.hp2 others(8): Show HG01175.hp2 HG02055.hp2 HG02135.hp2 HG02148.hp2 HG02683.hp2 HG02965.hp2 HG03492.hp1 NA18953.hp2 NA19009.hp1 NA19085.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001	a0001c0001t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0007 others(8): Show a0001c0001t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0004t0001g0016 a0001c0005t0001g0008 a0001c0005t0001g0018 a0001c0005t0001g0026 a0001c0006t0001g0013 a0001c0007t0001g0015	11	183	0.0601	-1728	c.239 others(19): Show c.239-19035_239-17308del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
NCF2_chr1_183550562_183595459	183580469	AATTTCCA others(1721): Show AATTTCCACTGTGTTCTATTGCCTGTTTGGGAGCTCGCTGAAGGTCTCAG AGGGCACACACTTTAACTGCCGTCAGCATCAACCTACCAACGTGCCTTCC TCCCTGCTGAGTTGGCTAAGCAGATGGATTTCAGCTGGGAAGTGACACCA CCTGGGTCTATCTGGCATTGCATGAGCCCAGCAAAATCCTCCTAATAATT CCCTAGCCCATCAAGATGTCTACAGAGGCCCGGTGCAGTGGCTCGTGCCG GTAATCCCAGCATTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAG GGGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAA ATATTTAAAAATTAGCCGGGCGTGGTGGTGCGTGCCTATAGTTCCAGCTA CTCAGGAGGGTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTG AAATGAGCCAAAACCATGCCACTGCACTCCAGCCTGGTTGACAGAGCGAG ACTCCAACTCAAAAAAAAAAAAAAGGTGTCTACAGATTTGGGCCTGGTAG GAGAGAGAGAGAAAGAACTGACAAATTATTCAGAGGGTTTGCTTTGTTTT AAAGACAGGGTGGACCCGCCTAGGCAATATGGAGAAACCCCACCTCTACT AAAAGTACAAAAAATTAGCCAGGCATAGTGGTACGTGCCTGTAGTCCCAG CTACCCGGGAAGCTGAGGTTGGAGAATCACCTGAGCCCAGGAAGTCAAGA CTGCAGTGAGACATGATTGCACCACTCCACTCCAGCCTGGACGACAGAAT GAAATCCTGACTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAA GAAAGTCCAACAACCAAAAAAACAGGGTGGGGCCAGGGGCTGAGGTTTGA GCCTGCAGTTCCAGCTACTCCGCCAGAGGCTGGGGCAGGAGGATCACTTG AGCCCAGGAGTTTGAGGCCAGCCTGGACAATATAGTGAGACCCCTTCTCT AAAAAAAAAAAGATTACTTATTTTATTTATTAATTTTGTTATAGAGACGG GGGTCTCACTATGTTGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCAA TCCTCCCACCTCAGCCTCCCAAAGTACAAAGACTGCAACTGTGAGCCACT GCACAGGGCCTAATTAATTAATTTTTAAAACGGGGAAGGGGCATCCTTGC TAAGTGTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCTGGCTGG AGTGCAGTGGCGCGATCTCGGCTCACTGGAAGCTCCGCCTCCCGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGC CACCGCGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGCCAGGGTTTCACC GTGTTAGCCAGGATGGTCTCGATCTCCTTACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTCGCCTCGCCAA CTAAGTGTCGTTTTTAAACATGTCTCTGAAAGCACCGGCCTGCTTCCCAG CCCCCTCGTTCCCTGCTGCAGGCCTCTTTTCGGCCTCTCCACTTGTTTAC CCAGAGCTGCAGCCCTGAAGGGGGTTCCGCTTTGACACACAGCTCTTTTC CCATTACACAGGTTCGCAATAATCTCAGTATGAGAATCCCAAAATAGCAT TCAGCGCTGTGTGCCAGTGGGCCGTGCTG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0265 a0002c0002t0001g0265	1	406	0.0025	-1728	c.258 others(17): Show c.258-4490_258-2763del	NCF2	ENSG00000116701.16	transcript	ENST00000367535.8	protein_coding	2/14			chr1	TogoVar
CDH4_chr20_61247261_61945617	61943313	CGTCTGCA others(1720): Show CGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGAC CGTCGGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGAC CCTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCTTCTCACCGACAACGAGGAGCACTGCGAC CGTCTGCCCCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGAC TGTATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCCCCGTGGCCGCCC CTTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCC CCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACTGACGATGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCATCTGCACCGTGGCCGCCCCTT CTCACTGACGATGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTT CTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTT CTCACCAACGATGAGGAGCACTGCGACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02895.hp2 HG03139.hp2 HG02109.hp1 HG02895.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0017 a0001c0003t0017 a0002c0004t0033 a0001c0001t0017 a0001c0003t0017 a0002c0004t0033	a0001c0001t0017g0065 a0001c0003t0017g0067 a0002c0004t0033g0095 a0001c0001t0017g0065 a0001c0003t0017g0067 a0002c0004t0033g0095	3	106	0.0283	-1727	c.63 others(11): Show c.6371_*8097del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2697		chr20	TogoVar
CDH4_chr20_61247261_61945617	61943366	CGGCACCG others(1720): Show CGGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCCT CTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCTTCTCACCGACAACGAGGAGCACTGCGACCGT CTGCCCCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGACTGT ATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCTTCTCACTGACGATGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCCCCGTGGCCGCCCCTT CTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCCCT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTT CTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTT CTCACTGACGATGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTTCTC ACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTC ACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTC ACCGACGACGAGGAGCACTGCGACCATCTGCACCGTGGCCGCCCCTTCTC ACTGACGATGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCCCTTCTC ACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTC ACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTTCTC ACCAACGATGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCCCTTCTC ACCGACGATGAGGAGCATTGCGACTGTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0040 a0001c0003t0032g0040	1	106	0.0094	-1727	c.64 others(11): Show c.6424_*8150del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2750		chr20	TogoVar
SCNN1D_chr1_1275436_1297025	1288264	TCTGCTCC others(1720): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCC CCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCC CCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0008 a0014c0021t0008	a0014c0021t0008g0272 a0014c0021t0008g0272	1	290	0.0035	-1727	c.166 others(17): Show c.1662+240_1663-268del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF614_chr19_52008324_52033379	52024483	GTGGGGAA others(1720): Show GTGGGGAAAAGAAAGAGAGATCAGACTGTTACTGTGTCTATGTAGAAAGA AGTAGACGTAAGAGACTTCATTTTGTTCTGTACTAAGAGAAATTCTTCTG CCTTGAGATGCTGTTAATCTGTAACCGTAGCCCTAACCCTGTGCTCGCAG AAATATGTGCTGTGTTGACTCAAGGTTTAATGGATTTAGGGCTATGCAGA ATGTCCTTTGTTAAAAAAGCACTTGAAGGCAGTATGCTTGTTAAAAGTCA TCACCATTCTCTAATCTCAAGTACCCAGGGACACAACACACTGCAGAAGG CCACAGGGGCCTCTGCCTAGGAAAGCCAGGTATTGTCCAAGGTTTCTTCC CAAGTGATAGCCTGAGATATGGCCTCGTGGGAAGGGAAAGACCTGACCGT CCCCCAGCATGACACCGGGGGATACCCGTAAAGGGTCTGTGCTGAGGAGG ATTAGAAAAAGAGGAAGGCCTTTTTGCAGTTGAGATAAGAGGAAGGCATC TGTCTCCTGCCAACTACTTGGGAGGCTGAGGCAAGAGAATGGCGTGAACC TGGGAGGCAGAGCTTGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCC TGGGCAACAGAGCAAGACTCTGTCTCAAAATAAATAAATAAATAAATTAG TAATTTTAAAAAAGTTGGTTGGCAGGCACCAGCATGCAAAGAATGCCAAT ATTCCAAAAATGGTCTGGAGTATGTACATTAAAATGACAACCATAGTTCC TTCTTGAGTGGTGGGTGATTCATGTATCATTGTAATGGTCAAAAGTTGAA CTACCAACAAAGCATGGATTCTTTCATATTGAGTCTACTTTTTTTTCCTT CTTTTTGAGACAGGGTCTTACTTTGTCACCCAGGTTGGAGTGCGGTGGTG CAAACATGGCTCACTGTAGCCTCGTCCTCCTGAGCTCTAGCAATTCTTCT CCCACCTTAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCACAC CCAGCTAATTTTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTGCCC AGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCAGAATCTACTTCTTAA GGCAGAATGAACCCCCACCTCTACTCCCAAAAGCAATGTAAGTTAATTTC TCCCTAGAACACAATTATCCCAGTATATACTTCCTTAAGTTCAACTGACT TCTTCAGGCCACCATAAATCTATCAAAAAATCAAAGGGAAAATATCACCT GGGTCTTGATCATTTTCTTCTGTGCTCAGAAAATAGTGGATAACATGGAC TATACGTCTTTGTCTCTTCTGCATTTGCCATGAAGTTTTTGAAGTTTTCC TAGTCAGAAATATTAGTGTCCACTTAAAGTTGTCCCCAGAAATTATGATA TCCAAGGCCAGCAACCTCCTTCTTCTTCCTTCATTGCTTCACTTGAGTTA TTTTGCTTCTGGGAGCCAGGACCTGAGGACTGATAAACAAAATGGCTTTC AGTGTACATTAACCCTGGGTCCAGACATTGTCACTGCTGCTCTGCACTTA CCTTAAATAAAAGACCCTAATATTTCTAACAGTTCCTTTATTTGCTGCCT CAGAGGTTTTCATGGTTCTAAATGTGTGAAATCTATGCCTTTCTTTTGTG AAGTAGAAGTGGCATGACTATTATAGAGAAGGTGGGAAAGCAGAACCAGC ACAGCACAATGCCTCAGAGGCAGGTGTC	G G	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	NA19043.hp1 NA19043.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0025 a0010c0013t0025	a0010c0013t0025g0073 a0010c0013t0025g0073	1	416	0.0024	-1727	c.-21 others(16): Show c.-216-249_15+1247del	ZNF614	ENSG00000142556.19	transcript	ENST00000270649.11	protein_coding	2/5			chr19	TogoVar
CFAP46_chr10_132803392_132947570	132821030	TGTGCTGA others(1719): Show TGTGCTGATGTGTGCTGTGTGTGCTGTGTGCTGTGAGTGCTGATGTGTGC TGTGTGTGCTGATGTGTGCTTTGTGTGTGCTGATGTGTGCTGTGTGTGTG CTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGTCTGTGCGCTGATGTG TGCTGTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGCTGTGTGTGTG CTGATGTGTGCTGTGTGTGTGCTGTGTGAGCGCTGATGTGTGCTGTGTGA GTGCTGATGTGTGCTGTGTGTGCTGTGTGTTGTGTGTGCTGTGTGAGTGC TGATGTGTGCTGTGTGCTGATGTGTGCTGTGTGTGCTGTGTGCTGTGTGT GCACTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTGTGAGCGCTGATGTG TGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCTGATGTGTGTTGTGTGT GCTGTGTGAGTGCTGATGTGTGCTGTGTGCGCTGTGTGCTGTGTGCTGAT GTGTGCTGATGTGTGCTGTGTGCTGACGTGTGCTGTGTGTGCGCTGATGT GTGCTGTGTGTGTGCTGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGT GTGCTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCTGTGTGTGC TGATGTGTGCTGTGTGCTGATGTGTGCTGACGTGTGCTGTGTGCTGACGT GTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTGTGA GTGCTGATGTGTGCTGTGTGTTGTGTGAGTGCTGATGTGTGCTGTCTGTG CGCTGTGTGCTGTGTGAGCGCTGATGTGTGCTGTGTGTGCTGTGTGCTGT GTGTGCAGTGATGTGTGTTGTGTGAGTGCTGATGTGTGCTGTGTGTGCGC TGATGTGTGCTGTGTGTGCGCTTGTGTGTGCTGTGTGTGCGCTGATGTGT GCTGTGTGTGCGCTTGTGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGAG TGCTGATGTGTGCTGATGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGTG CAGTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCACTTGTG TGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGCTGTGTGTGCTGATGTGT GCTGATGTGTGCACTGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGCG GTGATGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGTGCTGTGTGA GTGCTGGTGTGCTGATGTGTGCACTGTGTGCTGTGTGTGTGGTGATGTGT GCTGTGTGTGTGGTGATGTGTGCTGTGTGTGCAGTGATGTGTGCTGTGTG TGTGCTGATGTGTGCTGATGTGTGCACTGTATGCTGTGTGTGTGGTGATG TGTGCTGTGTGTGCAGTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGT GTGTGCTGTGTGTGCTGATGTGTGCTGTGTGCTGATGTGTGCTGACGTGT GCTGTGTGCTGACGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGTG CTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTTGTGTGAGTGCTGA TGTGTGCTGTCTGTGCGCTGATGTGTGCTGTGTGTGCGCTTGTGTGTGCT GTGTGTGCTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGATGTGTGCT GTGTGTGCAGTGATGTGTGCTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0029 a0029	a0029c0099 a0029c0099	a0029c0099t0002 a0029c0099t0002	a0029c0099t0002g0017 a0029c0099t0002g0017	1	246	0.0041	-1726	c.711 others(19): Show c.7118-7842_7118-6117del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
GALNT9_chr12_132191372_132334589	132233453	TCCCTAGT others(1718): Show TCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGTGACAGAGGAGACAGTGTGGAGCCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTG GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGG CGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGG CGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCG ACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGAC AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAG GAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGA GACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGA CAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACA GCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGC GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGT GGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAG TCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGTGACAGGGACAGCGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0067 a0001c0015t0001g0067	1	183	0.0055	-1725	c.107 others(21): Show c.1077+12732_1077+14456del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
HP_chr16_72049505_72066055	72056410	GGCTTCTA others(1717): Show GGCTTCTATTCGGGGTGGAAGGAGATTGATGTGCAGAGCAGCTCCCGCTC ATCTGACTTTTCACGGTTCACTGGGAACAATTTCCAAATAGCAAACTCTC TGGCTTCTCTCTCTTTGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTG CACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGTAAGAACTACTAC AAACTGCGCACAGAAGGAGATGGTAAGATGTGGACAACTGTCTCCATGCC CTACATACAACCCCCTTCTCTGACATTTCCATGATGGGTGGTGCTGAGGT GATTCGCCAGAAAGTTCGTTGCTCTCCTTGGAGCCAGGAGATTTAGATTC TAATAAGCGTTTTGTCGCCAGTAGCCATGGCCCTTTGGGCAGACTAACTT TTGTCAGCCTCAAGTTTTCTGTTTTGTTAAGGGGAGGCGATGCCATGCAG CCTACCTCATGTAAATCTCAGAGTCACATTTACATCTCCAGCAGATGTGG GAAAAGAAGGAATGCTGATGATGATGTCACCCTCACCTAGTGAGTCTTGC TGTCCTGGCACTGCTCTAAGGGCTTTATACTTATTTGCTCACTTAGTCCT CACAGTATCCCTCTGAACAGAGTTTATTGTTTTCACTTTGCTGATAAGGA AACTGAGGCACAGACAGGTTGAGTATCTTGCCCAAATTCAGGCAGCCTGT AAGAGGCAGAGTCAGGATTTGAACCCTGAGCCCTCCCTGTACTGCTTGGC TGTGACCGCCATGACCACAGTGTGTTCTGCTGGGCTTAACTGGTGTCCAG GCACTTGGCTTCCAGCACAGCACTCTTTCCCTTCCTCCTTCTCATATTCT CTCTCCTTTCTCCCTTCCTGTCTGCCTCCTTTCTTCTTCTTCTTTTTAAT TCTTCTCCTTAAATGCCTTCTCACTCTGCTCTGGGTGCAGACTTGACTTT TCCTTTGGCTCATTTCTTGCCTTTTGTTTCAGGAGTATACACCTTAAATG ATAAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTGAATGT GAAGCAGGTGGGTGCTGAGCACTGAGCACTTAAGAGAGCAGGCAGGCGTC CAGCGGGGAACGTCCTAGAGGCACAGCCTTCCAGTGCGGCTTCCTCTGAG CACACAAGAGCCAGGAGGAGGGATGTGGGAGAACCGCAGCTGGCCAGGGA GAGACTTAAGCAGTTAGGTGATGACTCCCTAAGGGTCACCAAGGGTCTTG TTCATTGGGGCCTGAAGGGCACTGGCTGAATCCACTGTCGGCACTGCCCA CAGATCAGGAGAGCCTGTGCATACAGAGAGCCTGCTAGAAAGCCCTGGGT CTAAGGAGAAGCAAGCTCCAGGGAGAACAAGTCAAGGAATGACATAAAAT CTTAATCCATGGAAGCCTAGCAGGAGGCTGGACATGGGCTGGAACTCCTG CTTCTCGTTATTAGGAGGAGCTGTTGCTCTCTCCTTTCATTCTCAGAACC AGAGGCAAAGACCCAGCCTCTTCTGCTCTTACTGGTGTGGAAATGCCAAC CTGCCTCGTATTAACTGCACCATCTACAAAATCTGAGCTCCAGCCAGTGC TGCTCTAGATTCATCTTTCTTTAGAGAGAATGAATTATTGTAGCCCCTAG CCCTTTCAATGAATTTCAGGGAATTGTGGAAATTCCTTTATTGGGATAAT TGTTTAAAAATAATACAGTTCGCGA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00438.hp2 others(102): Show HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03704.hp2 HG03831.hp2 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0018 a0002c0002 a0002c0006 a0002c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0006t0001 a0002c0018t0001	a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0023 others(6): Show a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0002g0011 a0002c0002t0004g0007 a0002c0002t0007g0026 a0002c0002t0010g0007 a0002c0006t0001g0002 a0002c0018t0001g0002	105	425	0.2471	-1724	c.191 others(15): Show c.191-189_368-188del	HP	ENSG00000257017.10	transcript	ENST00000355906.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF516_chr18_76352682_76500242	76392908	GAAGGCAG others(1717): Show GAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTG GTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG02145.hp1 HG02922.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0004c0038 a0001c0005 a0004c0038	a0001c0005t0112 a0004c0038t0125 a0001c0005t0112 a0004c0038t0125	a0001c0005t0112g0272 a0004c0038t0125g0123 a0001c0005t0112g0272 a0004c0038t0125g0123	2	346	0.0058	-1724	c.181 others(21): Show c.1811-14329_1811-12606del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
RNFT2_chr12_116733315_116858631	116779928	AGACAAGG others(1716): Show AGACAAGGTATCACCTGTAGGACATAGTGATTGCCAGTGGCTCTGTAAGG TGACCCAAAGGGAATCTGGACCGAAGCAGGTGGACTAAAGAGTGTTTGAA GTCTCCTGCTTTCCATTCTGTAAAAACAGCCATCTTTCAAGTTCAGAAAG CTGAGACATGTCCCAGGCATTGCTTGGCAGCAGAGCAGCTTGGAAGTGAC CATCGATCTTGAGTGGTAACTAACCCAACCCATAACCCCAATCTTTGGGC CTGTTTTGGTCCTCTCACCTTTCATGTCCACTCCCTTTCTCCACTGTGTG ACTTAACATGGTGGTCCCCAACCTTTTTGGCACCAGGAACCGGTTTCATG GAAGACAGTTTTTCCACAGATCAGGGTGGGGATGGTTTCGGAATGAAACT GTTCCACTTCAGATCATCAGGCATTGGATTCTCATAGGGAGCATACAACC TAGATCATCCCTCACATGTGCAGTTCACAATACGGTTCCCACTCCTAGGA GAATCTACTGCCGCAGCTGATCTGATGGGAGGCGGAGCTCAGGCGGTAAT GCTTGCTCACCCACTGCTCACCTCCTGCTGTGCGACCTGGTTCCTAACAG GCCACAGTCTAGTACCAGTCTTCAGCCCCAGGACCCCTGGTTTCTAGTTG AGCCAAAATCCTAGGCTGTTGAGGTTTTCTTAGATGAAGCCGCAGCTCTG GTACCCAAAGGCAGTGCCAGGAAACGCAAAATGGCATAAAGACAAAAAAA AAAAAAAGAGATGTGGAGAAGAAAGGCCAGAGGGAAAACAACAGGCCTAG GGAAGTCCTAAGATGCCTCCCATTGACCCTCCCCAAGACCATGAATGACG AGGACCTTTTGCCCATTGAGCTCATGCAGGGTTCCAGGTCGGCACCACGC ACTTGACACTGGAAAGCAGCATGGCCTGATGGCTATGCCCATGGACTTTG GCATCAGACACATCTATGTTCAGATCCCAGCCATACGCCTCTCCAGCTGT GTGACTTTGGGCAGGTGACAAAAACCTAGTTTCCTCATCTGTCAACTGAA AATAACAATAGCGCCTTCCTCCAAAGTACTCACTTTGTAAGAACTATTGG TTGTGGGAAATACAGAGTGCTTTGCTCCACGCTCTGCACATAGTAATTGC TCAATGAGTGATTCACAATACCTGTGTTGTCTAATCTTCATGACTGCCAG CTCTGCACTGACTAGCTGTGCAATCTTGGATGAATTACTTAGCCTCAGTG CCCTCATCTGTAAAATGGGGTAATAGTTTTCCAGCTAAATGACTTCCTCT GGCCCTTTCAGCTACACCCTCCATCTTTCTCACCCTGCTCTCTGCCCAGG GGGCTGACCTGCGCGAACTATATCAATGGGCTCCTGTGCCCATCAGCTTC CAGTTGGGTTCAGCTGATGGGAAGCCCAAGAGGAGAGAGAGGCAGAGGTA TTTATTCCCCCAGCATGTTAGTCTCCTGTGGCTGCTGTGACAAATTGCTA CAAACTTAGTGGTTTAAAGCAACATTAATTTATTATCTTATCGTTCTGGA GGTTAGGAGTCCAAAGTGGGTTTTACTGCGGTGAAAACAGAAGTTTTGGC AGGGCTGTGTTCTTCCTCCGTCTTCCGAGTCAGTGATGGCAGGTTGAGCG TTCTCTCCTCTCTCCCTCTCCCTCCCCCTACACCTCTGCCTTCATTGTCG CATCTCCTGATTCTCGCCCTCCTG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0208 a0001c0003t0006g0208	1	268	0.0037	-1723	c.882 others(16): Show c.882+581_882+2303del	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10			chr12	TogoVar
ZC3H6_chr2_112270597_112345059	112287837	CGTGATCC others(1716): Show CGTGATCCGCCTGCCTTGGCCTCCCAAAGTACTGGGATTACAGGCGTGAG CCACCGCCCCCGGCCGTTGGAAACATTTTGAAGGAACTCTTTGTAAATAA AATACATGGCATGCCTTTCTGTTTTACTATACAGTTGCTGATTTATCCTT TAGTTGGTTACTTTGAATCATCATTAACATCTGTTGTCACCATAATCCCT GTGATCACTAGATGTCATACTCCATTTTATGTTTTATTGTTGCCTTGGGG AGACTTTGAGAGTATGAGAGGTGTTCATGCAGACTGCTGCTGAGTGTTGC ATAGAGATGGAATAAAGTACAAATACCTTCAGGAACAGACTCCAAACTTG GTCTATTCCAGCTTCCTTTCATTTTTTTTTTTTAAACCTATTCCAGATAA TTTTTCATTGGTATTCTCTGAAGGAAAATAAGAGAAATTTCCTCTTAGAA TCCCTTCTCCTTGGATTTGTAACCTTTCCCAGTTCATTTCTGTGGAAGTA CTTGTAGTCCAGCATAGTAATTCTATTCAGATATGTATAGTTCAGTTAAG TCACGAAGGGAAAGGAAGCTTTCGTTGAGGGCTATCTACTAGGTGGTACA GTGCTAGGTAATTAACTTTATCTCAATCCTTAAACAACTCTGCAGTGGTA AGGGTGATTAATTCATCCCATTTTGTAGACAAGGAAACTGAATGTTAGAG GGATGGCATAATTTGTTCATGTTCATATAGGTAGTACTTTGGGAAGCAGA ATTTGAACACAGATCTTTCTGGTTCTAGAGCTTTGTGTTCTTCTACCTTG CTATGATGTTAAGTAATTAGTTTTAACATGCCACTTAAGTTTAAAGCCTT AAGTAGTCCTTTTAAGAAATCTTTTGTTGCTGGTTATTCTCATTTAACAC TCCTATTTTAATTTCCAGGTTCAGGTGACCTCACTTTGCCAGAACCGTGG GTCTTCATGAAATAAGAGATTTCATTTGGTTTTTGTTTTGGTTTGCATCC TCTCTAACTTTAGGTAGAAATTGCTGTTAGGGCAATCACCTACCTCACTA TATTCCACTCTCTCTTCTGGATATTGGTGCTCAGCCCTTTTTTGAACCGC AAACCTTATTAATAAAATAGTTTTCATTCTTTGAGCGTTCCTCTTCTCAC TGCCCACCCCCCCGCCACCACCACCCTACTGACTTTGATGAGCTGAACTG AACCACTCTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTGAGACAGAATCC CGCCCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATATCGGCTCACTGCA ACCTCTACCTCCCAGATTCAAGCGATTTCTGGCTAATTTTTGTAGTTTTA GTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCAAGTG ATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGGTTACAGGCATGAGCCAC CCGTGCCAGGCCCTGAACACTTTTTTTTTCTTTTTCTTTTTTTTTTTTTT TTTGAGATGGAGTCTCTTGTTCTTGTCGCCCAGGCTGGAGTGCAGTGGCG CGATCTTGGCTCACTACAAGCTCCGCCTCCTGGTTTCATGCCATTCTCCT GCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCGCAACCACGCCCA GCTGATTTATTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGCTGGTCTCGATCTCCTGACCTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02809.hp1 others(1): Show HG02451.hp2 HG02615.hp2 HG02809.hp1 HG03225.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0004 a0006c0010t0004 a0001c0001t0004 a0006c0010t0004	a0001c0001t0004g0035 a0001c0001t0004g0170 a0006c0010t0004g0171 a0001c0001t0004g0035 a0001c0001t0004g0170 a0006c0010t0004g0171	4	288	0.0139	-1723	c.32+ others(17): Show c.32+11827_33-10274del	ZC3H6	ENSG00000188177.15	transcript	ENST00000409871.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC66A2_chr18_79897420_79956653	79920125	GAACCGAG others(1714): Show GAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAG AGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTC AGTGAGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGAC AGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGGT CAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGA GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAA GGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGA GAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAAC CGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGA GGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGG AACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGA GGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAG TGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGAC AGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGG AGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGC TCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGA GACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAG TGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACC GAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTC AGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGA GGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGA ACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAG GTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAG TGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGAC AGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCT CAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGA CAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAG GGTCAGAGGAGGAGAGACAGGA	G G	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	352	0.0028	-1721	c.392 others(16): Show c.392-2446_392-726del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
DACT2_chr6_168301904_168324777	168316264	CCATGTGT others(1713): Show CCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGC AGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAGCA CCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTG AGGGCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATC TCAGCAGCACCTCCCTTCCCATCACGTGTGTAACACGTCTGTGGCTGTCG TGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACA CACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTG TGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTG GTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTA ACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGA TTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCC ATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAG AAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACC TCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAG GTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTC GGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGC TGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAA CAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCT GTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCA AACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACG TCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTG TCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTG TGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCT GCGATTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAGCACCTCCCT TCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGCAAACAC ACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGT GGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTGTGG TGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAA CACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGAT TGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCA TGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGA AGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCT CCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGG TCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCG GCAGCACCTCCCTTCCCATCA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18957.hp2 HG01891.hp1 NA18957.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0264 a0002c0003t0003g0091 a0001c0001t0001g0264 a0002c0003t0003g0091	2	476	0.0042	-1720	c.246 others(17): Show c.246+1404_246+3123del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
PRKN_chr6_161342417_162732766	162157527	GGTACTGC others(1713): Show GGTACTGCAAGACCAGAGCTTAGAAAATGCTTCTGCACATAAAAGGCACT CTAAAGGAAATGCAATTAATACAGGGGAAATTCAAAAGACATCTTAAATG GCCTCAATTATACTCTTTCAGGATAATTTATAATCTGCTAATGATAAAAT GCAGATGGCGGACTATATTAATTTCAAAATGCTCTACCGCAGTTTTACTA GATATTTCTGGGACTATAATGCAAAACCAACCCAAGACACATTCAGAAAG ACTTCTCATTCCCTCCAACTACAGCCAAGTTGAATTCCTTACTCTTGTTA GGCATGCATACTGTGGATCTCAGGTTTTAATGTTCTCTGTATTTTATCAA CAGCTTGTCTTCCATAATAATAATACTTTCAGTCCTCTGGTCTCAACATT TTGTTGCAACTTTGTTGAAACTTCTTAATTTAATATCTGAATTCATATTA AAGCCTTCTATGTTTCTTTGAGATTATTTTTTTGCTGGGAGTCTGCTGTT TTCAGCCACCTATCAGAAGGTAACTCATGAAATAGAGTATAATTGTCAGG GTGCGATAAGTTTTTGGCATATTTTCTATGTAACTGATAGGAAATATAAT ACAAGGCTGTTAAATAATGAAAATTTTAAAAAGGAATACCATTAGGAAGG TTTTCTGTTTGGGTGATGGATGTGATCTATCATATAGTTCTAAATAATAA ATTCAGTTTTCTGTCTCAACGGTTGTTCTCTTCTTTCTCCTCAGGAAATG TTACACGCTGAGCCTCTGTCTCCCAGAACAGTGCTCCTGAATATTGAAAA CATGCTGCCCAGATCTTTCTTTCTTCTTTGACAAAGGCTACTTATCTTGT AGAGTGTAAAAGACCAAAGCTTTTTGTTTGTTTGTTTGCGTTTTTTTTTT TTTTTTTCTTTTGGTTTGTTTTTGAGATGGAATCCCACTCTGTCGCCCAG GCTGGAGAGCAGCGGCACAAACTTGGCTCACTGCAATCTCCGCCTCCCGG GTTTAAGCAATTCTCCTGCCTCATCCTCCAGAGTAGCTGGGACTACACTT GTGCACCAGCACGCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTT CACCATGTTGGCCAGTCTGGTCTTGAACTCCTGGCCTGAAATGATCCGCC CGCCTTGGCCTTCCAAAGGGCTGGGATTACAGGTGTAAGCCACCGCGTCC AGCTGCTTGTTCCTCTTCTGCCTTCTTCCTATTCCTTTCTTTCCTCCTCC CGCCTTCATCCAACACGGTTTGTGGTCCATGTTACTTGGGACTATTATAG GCTTCAAACGAGTCTCGTATGAGCAGTCTCTAGTCCATATTCCACCCCTG TAGCTAGTGCGCCCATGTTAAAGCTCTATAGTGTTCACATTACTCCCCTG TTCATGAATGCTCATTAGCCTTCCACTAACTACCATATTAAATCCCATCT CCACCTTGGCATTCAGGGCCATCCACATAACGCTAACCCTAAGCCTAGTC AGAGCCCATTTACTTGTGTTTGTACCTCCTATTGTCCTCCCACACTCACC CTTAGAGCCCCTCTGGACCAGGCTCTGTGTCAAAAACACCAGGTGATTTG CTTACCTTTAGGCCTTTGCCTTGCCTATCTCTATCTATTAAATTCTGCCG ATCTTCTTATCGTAAATACTGTTTTCTATTGACTAATTATCTATGAGAAT CACACAGATACTCATACGTGA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	1	32	0.0313	-1720	c.534 others(19): Show c.534+41884_534+43603del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	4/11			chr6	TogoVar

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Search Results (Total: 2609 hits)