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
ASMT_chrX_1610059_1648081	1636890	TCATGAGG others(1634): Show TCATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAG CTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACA GCCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCATC CATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAA GGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACG AGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCC TGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCT GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGT GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTG GGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGT CCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGA GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGAT CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAT CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC TCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCC ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC CTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01975.hp2 HG00099.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0128 a0001c0001t0001g0040 a0001c0001t0001g0128	2	223	0.0090	-1641	c.910 others(16): Show c.910+363_910+2003del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBK1_chr12_64447120_64507114	64502997	TGTGGGGC others(1633): Show TGTGGGGCAAGGAAGTATTTAATCCCTCTTTATTTTAATTTTCCATTTGA CCGTCTAATATGGGTATCTTGTATAGTTTAAAAGCTTATATCACTGAATA TTAGGTAAAATTTTACTCAAATTATGTGATTATTTGATATATTTGCCAAT TTAGTTTTTATTTCAGCACCTCTAGCAAACAACACCAATAAATAGAACCT TTATGTGGCGATTGTATTTTTATTAATAGTATTGATAGGAATATATCTAT TCCACAGTAGTATTTTTTGAGATTTACTCTTTTATTTCCCCCTTACAGTG ACATGGAAGAGAAGCATTCTTGCTTTCAGTATTTTACCCTCAAAAATGCA TCCTCATTCAAAACATTTATTTTTCAAAACATTTTAAATAAATAAATGCA TGATACCAGTCTGCTAATGTTCAGTGACTATTTAAATGAAATTAGCTTTA AAATAAGTTGTATCTTCACTTTAGTAGCTTTTTAAAAATATTATAATGTT TTGAAAAGATAGCAATTAATGGTATAAAAATAGTATATATAACAAATAGA AGATGGGTGTGATGGCTCATGTCTGTAATCTCAGCGCTTTGGGAGGCTGA GGCAGGGATATCACTTGAGATCAGGAATTCTAGACCAGCCTGGGCAACAT AGCAAGAGCCCTGTCTCTACAAAAAAAAAAAAAAAATTTTTTTTTAATTG GCCAGGCATGGTGGCATGTGCCACAGTCCCAGCTACTCAGAGGCTGAGCT GCGAAGACTGCTTCAGTCCAGGAGTTAAAGGTTACAGTGAGCTATGATTG CCAGCCTGGGTGGCAGAGAGAGACCCTGTCTCAAAAAATTAAAAAAAAAA ATAGAAGCGTTAGTAGATGTAACTCTTAGCATAAAACAAGTTATAGTACT GACAGCAGAAAAAATAAAAGTGAAATATGTGAATATAAAGTATATCAAAA GAGAGCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCT GGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGCTGA GCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAG AGAAAAGCTTGGACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGGTTGTGC CACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTTTGTCTCAAAAATAA AAAATAAAAAAATAAGGGATAGCTTCAAGTAAATAAACAGGAATGTAAGG TTAGGAAAGAAATGGGAAAAATAATCCCATTAAGTAAGTCTCCTAAAATT CGAGCTGCCGGCGGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTG GGAGGCTGAGGCGGGCCGATCACCTGAGATCAGGAGTTCGAGACCAGCCT GGCCAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGGCTGA GCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGG TGGATCACGAGGTCAACAGATCAAGACCATCCTGACCAACATGGTGAAAC CCCTTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	392	0.0026	-1640	c.16 others(11): Show c.1617_*3256del	TBK1	ENSG00000183735.11	transcript	ENST00000331710.10	protein_coding		884		chr12	TogoVar
DLGAP1_chr18_3491032_4460307	3560434	AAAAAAAT others(1631): Show AAAAAAATTAGCCAGGTGTGGTGGCGTGGGCCTGTAATCCCAGCCACTCG GGAGGCTGATGCAGGAGAATTTCTTGAACCCGGGAGGCAGAGGTTGTGGT GAGCCAATATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTC AGTCTCAAAAAAAAAAAAAAAAAAAGCATGTTTATGTAAAATTAAATGAG CACTGGCAGCAAGCTGCACATTTTTTTCTAAATGGGAAAAGGGTTAAGCT GATTATTTATCTAGTCGGATTAACATCTACCATATTTGTTACTACTTTCT ATTTTTTTGCCTTTGCTCTTTCTTCTTATTTTTGTATTTCACATTTTTTC TGCTGTTAATAATTTTCCATTGAGCATTTATGTGATTGAATTTTCTTTTC TTTCTTAGCATACTAATTTTACTTCTCTTTTACCTCTTTGTAGTGGTTAC CCTAGAGTTTGCATTATGTATTTACCACGAATCCAATCCACTTTCATATA ACACTGTGACACTTCACAGGTTTTGCAAGTACTTTGTAATAATTAAATAT TTCCAATTCCTACCACTTATTCCTTGTATCATTGCTGCCATTCATTTCAC TTATACATAAATAAATAAATGTACATGTATTTAAATACATTTTTGCAATT GCTATTTTGAACAAACTTATCTGTTAGATCAATTACGAATGAGAAAAATG AGCTGGGCACACTGTCCCACGCCTATAATTTCAGCACTTTGGGAGGCTGA GGTGGGCGGATCACCAGAGATTAGGAGTTTGAGACCAGCCTGTTCAACAT GGTGAAACACCGTCTCTACTAAAAAAAAAAAACAAAAAAAAAAAAACAAA CAAAAAATAGCCAGATGTGGCAGGTGCCTGTAATCCTAACTACTCAGGAG GCTGAGGCAGGAGTATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGC CAAGATCCTGCCACTATACTCCTTCCTGGGCGACAGAGCAAGACTCCATC TCCAAAAAAAAAAAAAAAAAAAAAAACAGAAAAATGAAAGTTTTTATTTT AGTTTCTGACCTATGTCATTTTCCTTCTCTCAGAAGAACTTCTTAACATT TCTTGAAGGTCTGCTGGCAACAAATTCCCTCAATTTTTGTTTATCTGAAA TAGTCTTTATTTTTCTTTCACTTTTACGGATAATTTCACAGGGTACAAAA TTCTAGATGGGTGTTTTTGGTTTTTTATTCTCCTAATACTTTAAATATTT CACTCTGTTCTTGCATGGTTTCCGAGAAGTTGGATATACTTCTTTCAATT TTTTTCGTTTTTGAGTGTTTTTATAGTGACTAAGCCTCGCTATGTTGCTA TTAGTCCGTTTTAACGCTGCTGATAAAGACATACCTGATACTGCGCAATT TACAAAAGAAAGAGGTTTATGGGACTTACAGTTCCATGTGGCTGGGGAGG CCCCACAATCATGGCATAAGGTGAAAAGCACATGTCACATGGTGGCAGAC AGGAGAAGAGGGTAACCGGGCACTGTGGCTCACGTCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGAAGATCATAAGGTCAGGAGTTTGAGACCAGC CTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA21309.hp1 HG02965.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0008 a0001c0001t0002 a0001c0002t0008	a0001c0001t0002g0047 a0001c0002t0008g0037 a0001c0001t0002g0047 a0001c0002t0008g0037	2	80	0.0250	-1638	c.205 others(19): Show c.2057+5418_2057+7055del	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	9/12			chr18	TogoVar
SGSM2_chr17_2332501_2386054	2355249	CCCCATAT others(1631): Show CCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGG CCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTTGGGGGAAGGGA CCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGCAGGGGC CCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTTGGGGGAAGGGAC CCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGGGACC CCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACC CCATATCTTAGAATGGTAGAATCGGGGTGTAAGAGTTGGGGGAAGGGACC CCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGGGACCC CATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTTGGGGGAAGGGACCC CATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGGGACCCC ATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCC ATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCC ATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGGGACCCCA TATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCA TATCTTAGAATGGTAGAATCGGGGTGTAAGAGTTGGGGGAAGGGACCCCA TATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGGGACCCCAT ATCTTAGAATGGTGGAATCGGGGTGTAAGAGTTGGGGGAAGGGACCCCAT ATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCAT ATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGGGACCCCATA TCTTAGAATGGTGGAATCGGGGTGTAAGAGTTGGGGGAAGGGACCCCATA TCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGCAGGGGCCCCATAT CTTAGAATGGTGGAATCGGGGTGTAAGAGTTGGGGGAAGGGACCCCATAT CTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATAT CTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGCAGGGGCCCCATAT CTTAAAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATAT CTTAAAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATAT CTTAAAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATAT CTTAAAATGGTGGAATCGGGGTGTAAGGATTGGGGAAGGGACCCCATATC TTAAAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATATC TTAAAATGGTGGAATCGGGGTGTAAGGATTGGGGAAGGGACCCCATATCT TAAAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATATCT TAAAATGGTGGAATCGGGGTGTAAGGATTGGGGAAGGGACCCCATATCTT AAAATGGTGGAATCGGGGTGTAAGGATTGGGGAAGGGAT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp2 HG01433.hp2 others(33): Show HG01175.hp2 HG01243.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG02145.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03490.hp2 HG03579.hp2 NA18522.hp2 NA19030.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0014 a0022 a0024	a0001c0003 a0002c0002 a0002c0004 others(8): Show a0001c0003 a0002c0002 a0002c0004 a0002c0041 a0002c0046 a0003c0006 a0003c0013 a0007c0007 a0014c0031 a0022c0045 a0024c0017	a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 others(11): Show a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0023 a0002c0004t0001 a0002c0004t0015 a0002c0041t0001 a0002c0046t0020 a0003c0006t0001 a0003c0013t0001 a0007c0007t0001 a0014c0031t0001 a0022c0045t0001 a0024c0017t0001	a0001c0003t0001g0390 a0001c0003t0002g0020 a0002c0002t0001g0131 others(30): Show a0001c0003t0001g0390 a0001c0003t0002g0020 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0023g0139 a0002c0004t0001g0006 a0002c0004t0001g0007 a0002c0004t0001g0069 a0002c0004t0001g0088 a0002c0004t0001g0089 a0002c0004t0001g0090 a0002c0004t0001g0091 a0002c0004t0001g0094 a0002c0004t0001g0132 a0002c0004t0001g0134 a0002c0004t0001g0137 a0002c0004t0001g0279 a0002c0004t0001g0300 a0002c0004t0001g0331 a0002c0004t0015g0281 a0002c0041t0001g0312 a0002c0046t0020g0159 a0003c0006t0001g0024 a0003c0006t0001g0086 a0003c0006t0001g0093 a0003c0006t0001g0095 a0003c0006t0001g0096 a0003c0013t0001g0087 a0003c0013t0001g0097 a0007c0007t0001g0295 a0014c0031t0001g0392 a0022c0045t0001g0136 a0024c0017t0001g0092	36	422	0.0853	-1638	c.134 others(17): Show c.134-6339_134-4702del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
TUBGCP5_chr15_22994177_23044569	23042732	TGGGGGGT others(1629): Show TGGGGGGTATCATAATCCCACCTGGCCAGAGATGCTGGGGGGACATCATA ACCCCACCTGGCCAGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCCG GAGGTGCTGGGGGCAGGGGGAATTTCATAACCCTACCCGGACAGAGGTGC TAGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGAGGGGATTT CATAACCCCACCTGGCCAGAGGTGCTGGGGGGGACTTCATAACCCCACCT GGCCAGAGGTCCTGGGGGACTTCATAACCCCACCTGGCCAGAGGTGCTGG GGGGACATCATAACTTCACCTGGCCAGAGGTGCTGGGGGGTATCATAATC CCACCTGGCCAGAGATGCTGGGGGGACATCATAACCCCACCTGCCAGAGG TGCTGGGGGGCGGGGGGAACTTCATAACCCCACCTGGCCAGAGGTGCTGG GGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGATTTCATA ACCCAACCTGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTGGCCA GAGGTGCTAGGGGGATATCATAATCCCACCTGGCCAGAGATGCTGGGGGG ACATCATAACCCCACCTGGCCGGAGGTGCTGGGGGGCGGGGGGAACTTCC TAACCCTACCTGGCCGGAGGTGCTGGGGGTGACTTCATAAATGTCACCAG GCCAGAGGTGCTGGGGGGGATTTCATAACCACAGCTGGCCAGAGGTGCTG GGGGAGATTTCATAACCCCACCTGGCCAGAGGTGCTAGTGGGACTTCATA ATCACACCTGGCCAGAGGTGCCAGGAGGACTTCATAACCACACCTGGCCA GAGGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGGTGCTGTGGGG GGGTATTATAACCCCACCTGGCCAGAGGTGCTGGGGGGGTCATAATCCCA CTTGGCCAGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTG CCGGGGGGCGGGGGGAACTTCATAACCCCACCTGGCCAGAGTTGCTGGGG GTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGCGGGGGATTTCATAA CCCCACCTGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTGGCCAG AGGTGCTAGGGGATATCATAATCACACCTGGCCAGAGATGCTGGGGGGCC ATCATAACCCCACCTGGCCAGCGGTGCTGTGGGGCCATCATAACCCCACC TGGCCAGAGGTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTG CTGGGGGGGATTTCATAACCCCACCTGGCCAGGGGTGCTGGGGGGACATC ATAACCTCACCTGGCCAGAGGTGCTGGGGGGTCATCATAACCCCACCTGG CCAGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCCGGAAGTGCTGGG GGCTGGGGGAGCTTCTTAACCCCACCTGGCCAGAGGTGCTGGGGGTGACT TCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGGATTTCATAACCCCAC CTGGCCAGAGGTGCTAGGGGGACATCATAACCTCACCTGGCCAGAGGTGC TGGGGGGTATCATAATCCGACCTGGCCAGAGATGCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	351	0.0029	-1636	c.-48 others(11): Show c.-4825_-3190del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3164		chr15	TogoVar
ADARB2_chr10_1172313_1742525	1235637	CCCCTCTG others(1628): 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 CGGTGTTTACTCCCCTCTGCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0035 a0002c0002t0021g0035	1	106	0.0094	-1635	c.136 others(19): Show c.1362-3427_1362-1793del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ATP9B_chr18_79064394_79383283	79356934	CGTGTGAG others(1627): Show CGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTG TGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAG GGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGA GGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTG TCTGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTG TGTGAGGGGTGCCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTG AGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTG GAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGG TGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCC TGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTG TGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTC TGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGA GGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGAC CCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCC TGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGG TCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTG AGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGG ACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGC CCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTG GGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTG TGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCCGTGTGAG GGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGT GCCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCCC TGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCCG TGTGAGGGACCCTATGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTG AGGGGTGCCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGG GTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGG TGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTC TGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTG TGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCTCTGGGTC TGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGA GATGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGAC CCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02257.hp2 others(12): Show HG01243.hp1 HG01891.hp1 HG02257.hp2 HG02559.hp1 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 NA18522.hp1 NA19030.hp1 NA20129.hp1	a0001 a0003 a0010 others(1): Show a0001 a0003 a0010 a0014	a0001c0010 a0001c0017 a0003c0007 others(4): Show a0001c0010 a0001c0017 a0003c0007 a0003c0020 a0003c0021 a0010c0029 a0014c0022	a0001c0010t0004 a0001c0017t0004 a0003c0007t0004 others(4): Show a0001c0010t0004 a0001c0017t0004 a0003c0007t0004 a0003c0020t0004 a0003c0021t0004 a0010c0029t0004 a0014c0022t0004	a0001c0010t0004g0277 a0001c0010t0004g0295 a0001c0010t0004g0297 others(12): Show a0001c0010t0004g0277 a0001c0010t0004g0295 a0001c0010t0004g0297 a0001c0017t0004g0099 a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0007t0004g0288 a0003c0020t0004g0289 a0003c0021t0004g0284 a0010c0029t0004g0220 a0014c0022t0004g0276	15	298	0.0503	-1634	c.290 others(18): Show c.2904-2342_2904-709del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMURF2_chr17_64537282_64667307	64575017	TAGATAAA others(1627): Show TAGATAAACAGAATCCAAAAAGCTTTTTACAATTTATATAATAAAACTGA TTTTGAAAAGTTAGGCCCTTGGATTTTTTTTTTCTTTTTTTAGTAAGCTT AAAAAAAAAAAAGTAAAATTTCCTCCCCACTACTTTTTATCTATTTATTT TTTTAGAGATGGGGTCTTGCTCTGTTGCCGAGGCTGGAGTGCCACGGTGC GATCTCGGCTCACCACAACCTCCACCTCCCAGGTTCAAGCAATTCTTCTT CTTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGG CTAATTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTGGCCAGGCT GGTCTCAAATTCCTGACTTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAG TGCTGGGATTACAGGTGTGAGCCACCGAGCCCGGCCCCCACTACTTTTTA AAAACTAACAGCTTATATTGTCAAGACATGGAAATGGCAACCTTGATAAA GTAATGAGTAATAGCACATTCCCTTGGTTGCCACCCTCAAAGAATTCTGA GCTCTATAACACAAAGTAAGACATTTTCATAATCACAGTTTTATTTATAA ATAGAGAGTATCAAAGCAACCCAAGACTAGCTAGTCACATCTGTTTTTTA TTCAAATACACAATAGAGTCCTGAGCATAAGCTTTAGGCAGGAAAAAAAA ACAACCTTCTGTGGGTTGTTCTGGGGGTTTGTTTTGGAGGAGGGGCGCTG CTGTGCTTAACATAAAATATCCACATCCTACAAATCCTTTGTATGTGCAA CATACAAAGTTGATTTAGAATTTAATTTAGAATTCAAGCTTTTTTCCAGT TGTAACTGGACTACTTGGTACTTTGCATCTGTTCATTAAAAAATAACTCA AAATAGGGCCAAGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGTGCACAGATTGCTTGAGCTCAGGAGTTTGAGACTAGCTTGGG CAACATGGCGTAACCCCATCTCTACTAAAAATACAAAAATTAGCGGGGTA TTGTGGCGCATGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGTGGGAGG ATGACTTGAACCCAGGAGGCAGAGGTTGTAGTGAGCCAGGACTGCACTGC TGCTCTCCAGCCTGGACAGCAGAGCTAGATCCTGTCTCAAAAAAAAGAGA GGGAGGGAGGCAGGGAGAAAACAATGTTCCAAAAATTATGGTAAATCACT AAATTTATTTGTGTGTCATTTCATCTTTTTGAAGTTAAAAGTAATTGACA TTTTGGTTAGGAAATGCAATATCTGCAGCTGAAATACACAAGTTTGGATA TTTAAATTAAATTAGGGCCAGGCACAGTGGCTCACGCATGTAATCCCAGC ACTTTGGTAGGTCGAGGTGAGCAAATCACCTGAGGTCAGGTGCTCAAGAC AAGCCTGGACAACATGGCAAAATCCCGTCTCTACTAAAAATACAAAAATT AGCTGGGTATGGTGGCAGGTGCCTGTAATCCTAGCTACTCAGGAGGCTGA GGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGACA TTGCACCACTGCACTCCCGCCTGGACAACAGAATG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0002 a0001c0001t0028g0002	1	174	0.0058	-1634	c.857 others(17): Show c.857+1841_858-3062del	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	9/18			chr17	TogoVar
BAZ2B_chr2_159313979_159621548	159569468	CCCCAGCA others(1626): Show CCCCAGCAAGTTTTCTAATATTAAGCAGAAAAAGTATAAAAAGATACAAA TATAATATTTGCATTTTTTTGAGAGTTGGTAGATTTAGGATTTTACAAAG TAACATATAATAAAAGATATTTAAACTTTAAAAATGTACTTTTTAGATTC AAAACTCAAAAATGATTTCACTTTTCTAACATTTTTCTTGTCATAGTGTT TCAAAAATGTAGCCAGATGCGGTAGCACACACCTGTAATCCCAGCACCTT AGGAGGCTGAGGTGATAGGAATGCTTGAGCCCAGGAGTTTGAGACAGCAG TGAGCTATGACCACCCCAGTGCACTCCAGCCTGGGTGACAGAGCAAGAGC CTGTCTCATAAAAAAAAAAGTACATAAATGAAAATTAGGTAATTTTCAGC AGTTAATTCACCTGTGAGATCATTTTTATTGTTGTCTACCTTAATTCAAG TAAGCCAGGTCAATAGATTAAAATACAAAAAAAATCCATGATGAAATAAG TCTGTGCACAGTCTCTGATACATAGTACGTTTTCAATATACATGTGTTAA ACTAAGTTGTATATATTATCTATGCCTCACCTTCCTCTGAGGTACAATAC CAGTGTAAGGAGAATAAAGATTCTTATCTATGGTTTAAAACTTAAAACTT AGAATGTTCTTACTTAGAAACCAAATTCACTTTAGAAAACAGAATTTCAT TAAAGTTTTTTTTTGTTTTTTTTGTTTTTTTTCTGGAGACAGACTCTCGC TCTGTGGCCCAGGCTGGAGTGCAGTGGCGCAATTTCAGCTCACTGCAATC TCCACCTCCTGGGTTCAAGAGATTCTCTTGCCTCAGCCTCCCGAGCAGTT GGGACTACAGGCGCACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGT AGAGACAAGGTTTCACTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCC ACTGCGCCCGGCCTCCTTACAGTATTCTTAATGGGATTTCACAATATAGA AGAAGACAGGATATAAAAAATGTAAGTAATACTCAATTAGAAAATCTTTC CTATATATCACCCTGAGAAGATAGTGACCTCACCTTGACTGACCCTTTCC TGTCATTTATATCCCAGCACATTTTTCACCCTTTCTCTGTCTCTGTCTTA TTTCCACTTGTCAAGCAAAAAGCAACCTTCTCCAGAAATACTTTTTAACC TCTGACCTCTCCCTTCCAACTCTAGTTGTGCTTCATAGCACTCCCTGCAG GTTGGATAAGTGTGGTAATCCTAATATTCCATAAGATGCTGTGCATATCT TTATCATTGAATAATTTATCCCCTATTGTTAGCATTTTCTTTTTTTGTTT TTTTGAGATGGAGACTCACTCTGCTGCCCAGGCTGGAGTGCAGTGGCACA ATCTCAGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGAGATTTTCCTGC CTCAGACTCCCAAGTAGCTGGGGTTACAGGTGCCTGCCACCATGCCTGGC TAATTTTTGTATTTTTAATAGAAACGAAGTTTTGCCATGTTGACCAGGCT GGTCTTGAACTCCTGACTGCAAGTGAACCGCCCG	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	216	0.0046	-1633	c.-45 others(19): Show c.-45-15236_-45-13604del	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
DOC2B_chr17_137789_186650	166707	CGTAGTGA others(1625): Show CGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTGTTCTTGAG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp1 HG02896.hp1 others(2): Show HG02055.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0027 a0001c0001t0008 a0001c0001t0027	a0001c0001t0008g0051 a0001c0001t0008g0053 a0001c0001t0008g0054 others(2): Show a0001c0001t0008g0051 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0056 a0001c0001t0027g0055	5	339	0.0148	-1632	c.454 others(17): Show c.454-4135_454-2504del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
SMYD3_chr1_245744347_246512279	245974481	GGCCCAGG others(1625): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGT CTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCATCTCTAGCCTAGGGA AAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0112 a0002c0003t0001g0112	1	150	0.0067	-1632	c.532 others(19): Show c.532-46176_532-44545del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
BRF1_chr14_105204286_105306001	105235292	AACAACCT others(1624): Show AACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTC GCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGA GCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTATCCGCGTAG TCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAG GAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGT AGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTC AGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGC GTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCC TCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTATCC GCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCAC CCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGT CCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGC ACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACT GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCC CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGC CCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACA GCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGG CAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GACAGCCCTGTGGCACCCTCAGGAGCCACAACCTAGCATCTCAGGAGAGA GAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGACAGCCCTGTGGCACCCTCAGGAGCCACAACCTAGCATCTCAGGAGA AAAAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACA GCCTGGCAGCCCTGTGGCACCCTCAGGAGCACAACCTAGCATCTCAGGAG AAAAAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGGCAGCCCTGTGGCACCCTCAGGAGCG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	72	0.0139	-1631	c.694 others(17): Show c.694+4342_694+5972del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
ARHGEF10_chr8_1818926_1963641	1888206	AGTGGGGC others(1623): Show AGTGGGGCGAGGGTTGCGAGGAGACAGTGAGTGTGGTGAGGGTTGCGAGG AGATGCTGAGTGGGGCTGTAGGTTCTGAGGAGGGGTGGGGTGAGGGTTTG TGAGGATATGCTGAGTGGGATGTTGACTGTGAGGAGACACTGAGTGGGGT GAGGGTTGTGAGGAGATACTGAGGTGATAGTTTTGAGGAGACAGTGGGGT GAGAGTTGTGAGGAGACACTGAGTGTGGAGGGCTGTGAGGAGGCACTGAG TGGGGTGAGGGGTATTGAGGAGACACTGAGTGGGGTAAGAAGTCTGTGGA GATACTGAGTGGGGTGAGGGGTCTGTGAGGAGACGCTGAGTGGGGTGAGG TATGGGGAGACACTGAGTGGGGTGTGAGGGGTCTGTGAGGTGTCACTGAG TGTGGTGAGGTTTGTGAGGAAACACAGAGTGTGGTAAGGGTCCTGAGGAA ACACTGAGTTGGGTGAGGGTTTGTGAGGAGACACTGAATAGGGTGAGGTT TGTGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGACACTGAATAGG GTGAGGTTTGTGAGGAGACACTGAGTGGGGTGAGTATTGTGAGGAGACAC TGAGTGGGGTGAGAGTTATGAGGAGACACTGAATAGGGTGAGGTTTGTGA GGAGACACTGAGTGGGGTGAGAGTTATGAGGAGACACTGAGTTGGGTGAG GGTTGTGAGGAGACAGTGGGGTGAGGGGTCTGTGACGAGACACTGAGTGG GGTGAGGGGTCTGCGAGGAGACACTGAGGTGTGAGGGGTCTACAAGGAGT CACGGAGTGCAGTGAGAGTTGTGAGGAAACATGGAGTGGGGTGCGGGTCA TGAGGAGACAGTGATTGGGGTGAGGGGTCCGTGAGGAGACACTGAGTGGG GTGTGAGGGGTCTGTGAGGAGACACTGTGAGTGGGGTGAGGGTTGTGAGG AGACGCTGAGTTGGGGGGTTGTGAGGAGAGCGTGGGGTGAGGTTTATTAG GAGACACTGAATGGGGTGAGGGTTGTGAGGAGACATTGAGTGGGATGAGA GGTGTGAGGAGACACTGAATGTGGTGAGGGTTTGTGAGGAGATACTGCAT GGGGTGAGCTTTCTTAGGAGACACTGAGTGGGTAAGAGTTGTGAGGAGAC ACTGAGTGGGGTGAGGGGTATGTGAGGAGACAGTGATGTGAGGCATCTGT GAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGG TGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGA CACTGAGTGGGGTGAGGGGTATTGAGGAGACACTGAGTAGGGTAAGGAGT CTGTGTGGAGACACTGAGTGGGGTGAGGGGTTTGTGAGGAGACACTGAGT GTGGGTGAGGGGTCTGTGAGGAGTCATGGAGTGTGGTGTGAGTTGTGAGA AAACTCGGAGTGGGGTGAGGGTCGTGAGGAAACAGTGGGGTGAAGGTTTG TGAGGAGACCCTGAGTGGAGTGAGGGTTGCGAGGAGACATTGAGTGGGAT GAGGGTTGTGAGGAGACACTGAGTGGGGTGAGGGTTGTGAGCAGACACTT CATGGGAGGAGGGTTTGTGAGAAGACACTAG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0100 a0001c0100	a0001c0100t0072 a0001c0100t0072	a0001c0100t0072g0199 a0001c0100t0072g0199	1	363	0.0028	-1630	c.118 others(19): Show c.1182+2506_1183-3727del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSMD1_chr8_2930361_4999914	3510104	AGCCTGAA others(1623): Show AGCCTGAACATAAGGACATGAATTGACAGAGAATACATATCTGTGTATAT GCTTTTGTGAAAACACTGAGGCAAGTAGGGTGTGCTGTACTGTGGGGCTG GACATCAGGGAGTCGGCAGGAGAAGTGGCCGACTCCTGCCTTCTGCGCCG CGTCCCTTGCCTGCAGCCCAGGCTTCTCACTCCACATGGCCTGCCTCTGT CTTCCCATTCCCGTCACAGGAAAGAGCAACACAGCCGGAGCTTGGGGGAG GACAGTAGAGAAAGCACATGGGTACTTGAAGTCCAAATGTCTTTTGAGCG CAGGCTCTGTTGCTGATTTGGCCTGGCATGGGGTAAGTTACTCAGCCCAG TCCCCTCACCCTCAATATCATCTTACAGGGTCTCTGAAAATGAGGTCTTA GGAAAGAAAATCTTAGAAGGTCTTTAAAGAGGTCAAATGAAGCAACATTT GTCACTTGCTTAACACATTACGTGGCACAAAATAATGCCTCAAAAAATGC TGGTGACTCTCTTGCAGAAGAATAACATACGATAAAAAAATCACATTTCA GATTATGTAAGATATAGAGGCAGGATTACTTTTTAATGATTGCCATTCTA ACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTGTAAT GACCAGTGAGGATGAGCTTTTTTGCCTATGTTTATTAGCCGCATAAATGT CTTCTTTTGAGAAGTATCTGTTCATATCCTTCCCCCACTTTTTGATGGGG TTGTTTTTTCCTTGTAAATTTGTTTAAGTTCCTTGTAGGTTCTGGATATT AGCCCTTCGTCAGAGATACATGCACACGTATGTTTACTGCAGCACTATTC ACAATAGCAAAGACTTGGAATGAACCCAAAGGCCCATCAATGATAGACCA AACAAAGAAAACGTGGCACTTATACACCATGGAATACTATGCAGCAATAA AAAAGGATGACTTGATGTCCTTTGCAGGGACATGGATGAAGCTGGAAACC ATCACTGTCAGCAAACTAACAAAGGAACAGAAAACCAAACACTGCATGTT CTCAGTAATAAGTGGGAGTTGAACAATGAGGACACAAGGGCACAGGAAGG GGAATATCATACACCAGGGCCTGTTGGGGGGTGAGAGGCTAGGGAATGAA TAGCATTAGGAGAAATACCTAATGTAGATGACAGGTTGATGGATACAGCA AACCACAATGGCATGTGTATACCTATGTAACAAACCTGCACGTTCTGCAC ATGTATCCCAGAACTTAAAGTATTAAAAAAAAAAATTCCTTAACTGGCAT GTTATAGATTTGGAAATGATCTGTACCTATCCTCCAAAAGAAGAGAAGGT TTACTCAAAATCTGTGGCCAGCCAGGCACGTTGGCTCACGGCTGTAATCC CTGCACTTTGGGAGGCCGAGGCAGGTAGATCACTTGAGGTCAGGAATTTG AGATCAGCCCGGCCAAAATGGTGAAACCCCTCTCTACTAAAAATATGAAA AAAGATTAGCTGGGCATGGTAGCAGATGTCTGTGATCCCAGCTACTCAGG AGGCAAAGGCAGGAGAATCCCTTGAACTGGGGCGGTGGAGGTTGTGGTGA GATGAGATCACTATTGCCCTCCAGCAGGGGT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp1 HG03098.hp1 others(1): Show HG02280.hp2 HG02647.hp1 HG03098.hp1 NA20129.hp1	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0002 a0003c0034 a0003c0058 others(1): Show a0001c0002 a0003c0034 a0003c0058 a0014c0010	a0001c0002t0028 a0003c0034t0030 a0003c0058t0057 others(1): Show a0001c0002t0028 a0003c0034t0030 a0003c0058t0057 a0014c0010t0070	a0001c0002t0028g0005 a0003c0034t0030g0038 a0003c0058t0057g0117 others(1): Show a0001c0002t0028g0005 a0003c0034t0030g0038 a0003c0058t0057g0117 a0014c0010t0070g0084	4	126	0.0318	-1630	c.134 others(21): Show c.1345-18008_1345-16379del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
PCDHB8_chr5_141172790_141185539	141183909	TTTCACCC others(1623): Show TTTCACCCAAACCTCCTACACCCTGTTCGTCCGCGAGAACAACAGCCCCG CCCTGCACATCGGCAGCGTCAGCGCCACAGACAGAGACTCGGGCACCAAC GCCCAGGTCACCTACTCGCTGCTGCCGCCCCAAGACCCGCACCTGCCCCT CGCCTCCCTGGTCTCCATCAACGCGGACAACGGCCACCTGTTCGCCCTCA GGTCGCTGGACTACGAGGCCCTGCAGGCTTTCGAGTTCCGCGTGGGCGCC ACAGACCGCGGCTCCCCCGCGCTGAGCAGAGAGGCGCTGGTGCGCGTGCT GGTGCTGGACGCCAACGACAACTCGCCCTTCGTGCTGTACCCGCTGCAGA ACGGCTCCGCGCCCTGCACTGAGCTGGTGCCCCGGGCGGCCGAGCCGGGC TACCTGGTGACCAAGGTGGTGGCGGTGGACGGCGACTCGGGCCAGAATGC CTGGCTGTCGTACCAGCTGCTCAAGGCCACGGAGCCCGGGCTGTTCGGTG TGTGGGCGCACAATGGCGAGGTGCGCACCGCCAGGCTGCTGAGCGAGCGC GACGCAGCCAAGCAGAGGCTGGTGGTGCTGGTCAAGGACAATGGCGAGCC TCCGCGCTCGGCCACCGCCACGCTGCACGTGCTCCTGGTGGACGGCTTCT CCCAGCCCTTCCTGCCGCTCCCAGAGGCGGCCCCCGGCCAGACCCAGGCC AACTCGCTCACTGTCTACCTGGTGGTGGCGTTGGCCTCGGTGTCGTCGCT CTTCCTCTTTTCGGTGCTCCTGTTCGTGGCGGTGCGGCTGTGCAGGAGGA GCAGGGCGGCCTCGGTGGGCCGCTGCTCGATGCCTGAGGGCCCCTTTCCA GGGCGTCTGGTGGACGTAAGCGGCACCGGGACCCTGTCCCAGAGCTACCA ATACGAGGTGTGTCTGACAGGAGGCTCAGAAACAAGTGAGTTCAAGTTCC TGAAGCCGATTATCCCCAACTTCTCTCCTTAGGGCACTAGGAAAGAAATA GATTAAAATTCCACCCTTCACAATAGCTTTGGATTTAATTATTGATAGGA ACCCATTTGATAAATTCCTTAACTTCTTATGATTGTCTTGTTGATTAAAT TGTTCATGCTCACCACCACCAATAAGGTATTTTTCTCTGATTGTTAGTTC AAATTATATTGTTAATTCCAGTTTCCCTTTTCCTCATATTTACCCCGAAG AGGTGTTGCATATAGAATCCCAATTAACAAAATATACTTTATCTTCAAAG TTGATGTCATTTAAAATTTTTCCGTCTTTATATTTTATTTACTTCCTATT CATTTTTTGCTCCATTTTTCATGTTACTTCTCAGTTTCCTAGAACTTCAA GTATTAAAATAACCTGTTGCATGTATTAGGCATATTTCCTATGTTACATT TCTTTTGTCTATTTTCCTTTCAAAATTGGTATTTTTGTTGGGCTCAATTT TCATTATAATACTTTTCTTAAAGTTTCTTTCTTTCTTTTCTTTTCTTTCT TTTTTTTTTTTTCCTTTTTGAGACAGGGTCTTACTCTTGTCACCCAGGCT GGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGCC CAACGGATCCTTCCACCTCAGCCTCCCAAGT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	414	0.0024	-1630	c.34 others(11): Show c.3470_*5099del	PCDHB8	ENSG00000120322.5	transcript	ENST00000239444.4	protein_coding		3371		chr5	TogoVar
SLC9A9_chr3_143260222_143853468	143500744	AATGTTAT others(1623): Show AATGTTATAGTATATATAAGATACCATAAATATCATAAATTTATAAAATA CCATAAATACCACAATTTTATGGTATTTATAAAATATCATAAATGCAATA AAATTTGCATTTTATTGTACCACAATAAAAATGTATACAATTTAGAACAA AATAAGAGTTTTATAATATTTGGGAAAAAAGATAGATTGTTTGGAAAGAT TTACAGTGAAAGTTGACTACTTGGGGTAAAAATAACCAGAAACCAAAGAT GGATTCTAGCTCACTCCTTATACTCAAATTACAGAAAAATAATCAATTTA AAGGAGAAAACAAAACCTACTTATGAATTATTCAATAAGTCATCAGTAAT TTTGTACATAATTTTTCAATCGGGAAATTTTATAAGAATTGTTTGTATTA GTAAAAACCTGGAAACAAATATCCATAATATAAGAAATAGTTAAATAAAT TATAGTATAATACATTCATGTAACAGCCTATATTTTAGGGAGTTCTATAT GAACTAGTATAAAAAGATATCTAAGATCTATTGTTAAATAATAAACAATT AAAGAAATAAAGGATAAATCTAGCTGAGTATTAACATGTACATATCCATG TAACTTTCACTCACTTTATGGACATTTGCATAATTTTAATTATAATGAGG ATAATTTTAATTATGCAGATGCCCATAGAGTGAAAGTTATATAAAATTTC TTAGATAAAATTCCTGACATGAGTTGTCCTCTCACGAAGGGGATACGTTT TCTTTTTAAGCATAGTAAAAATCTGCCCTTCAGAAAGAATGAAGCAATTT GCATCTCTACAAATGGTGCAGAGGGTGCCCTTTTCCCCATATTCTTGCCA AAGTAGTTTTTATCAGTTTTTAAAAACCTTTGACAATATGATAGAATCAC TTATTTTCAATTGTAGATGGTTGTTGGCATTTTAAAAAAGGCTTCTTTCA CAGCAATGCAACAGTACTGATTAGCACTCCTTTTGTCTATTTATATCACG TAACAACATTTCTTTGAATGAACAGTCTTCATAATAATTTCCTTCTTGGG GCATTTAATGAGAATCTGTGGGCAAATTCAATTTTGTTTCATATGCCAAA ATCTCCTGAAGGCATGTTTCAAAGGGAGAATCTATACAGCAAGGCCAGCT GACAGAACCAATTTGACCGTTAGGACTTCATTGCCTGAGTCTGGCCCGAA GGAGTACGCAATCACTGAGGGAATAAACTTATTGGTCAATTTTGGATAAA ATTTTAAAAAATGAAAAAAATCTTCCACCCCAAAGCCAATAATAATAATC ACAATAACAACACATTTCAAACTAGTCAATTCAGTGTTCAATATAAATAA CTTCAAATCTACTTCCTCCCCACTCAGGGTCAGTAAAAAATAACTTGACT CAACTTTTTATTTATCCGGTACAGTAAACATTTATTTTGTTTCCATTACT TCACAGTTTGTGAGCATTTGGAGAGGACCCAAGTTAAAAGTAATCTTTGC TTAGCAGGGCTTTTGTTCAAGGGGCAGGGGGGAAGCAAGTTAATAGTGCA AACAAGACTGGGGAAGTATTTAAACTGCGTAAGAGGACAATCTGTGTTTA AAAACTCTGAACGCTCATGGTAACCATTCAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02615.hp1 HG02723.hp2 others(6): Show HG01433.hp1 HG02615.hp1 HG02723.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03471.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0008 a0001c0003t0003 a0001c0005t0006 a0001c0012t0007	a0001c0001t0001g0082 a0001c0001t0002g0078 a0001c0001t0002g0087 others(6): Show a0001c0001t0001g0082 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0002t0001g0072 a0001c0002t0001g0075 a0001c0002t0008g0080 a0001c0003t0003g0021 a0001c0005t0006g0099 a0001c0012t0007g0093	9	108	0.0833	-1630	c.109 others(19): Show c.1090-6926_1090-5297del	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	9/15			chr3	TogoVar
ARHGEF10_chr8_1818926_1963641	1888216	GGGTTGCG others(1622): Show GGGTTGCGAGGAGACAGTGAGTGTGGTGAGGGTTGCGAGGAGATGCTGAG TGGGGCTGTAGGTTCTGAGGAGGGGTGGGGTGAGGGTTTGTGAGGATATG CTGAGTGGGATGTTGACTGTGAGGAGACACTGAGTGGGGTGAGGGTTGTG AGGAGATACTGAGGTGATAGTTTTGAGGAGACAGTGGGGTGAGAGTTGTG AGGAGACACTGAGTGTGGAGGGCTGTGAGGAGGCACTGAGTGGGGTGAGG GGTATTGAGGAGACACTGAGTGGGGTAAGAAGTCTGTGGAGATACTGAGT GGGGTGAGGGGTCTGTGAGGAGACGCTGAGTGGGGTGAGGTATGGGGAGA CACTGAGTGGGGTGTGAGGGGTCTGTGAGGTGTCACTGAGTGTGGTGAGG TTTGTGAGGAAACACAGAGTGTGGTAAGGGTCCTGAGGAAACACTGAGTT GGGTGAGGGTTTGTGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGA CACTGAATAGGGTGAGGTTTGTGAGGAGACACTGAATAGGGTGAGGTTTG TGAGGAGACACTGAGTGGGGTGAGTATTGTGAGGAGACACTGAGTGGGGT GAGAGTTATGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGACACTG AGTGGGGTGAGAGTTATGAGGAGACACTGAGTTGGGTGAGGGTTGTGAGG AGACAGTGGGGTGAGGGGTCTGTGACGAGACACTGAGTGGGGTGAGGGGT CTGCGAGGAGACACTGAGGTGTGAGGGGTCTACAAGGAGTCACGGAGTGC AGTGAGAGTTGTGAGGAAACATGGAGTGGGGTGCGGGTCATGAGGAGACA GTGATTGGGGTGAGGGGTCCGTGAGGAGACACTGAGTGGGGTGTGAGGGG TCTGTGAGGAGACACTGTGAGTGGGGTGAGGGTTGTGAGGAGACGCTGAG TTGGGGGGTTGTGAGGAGAGCGTGGGGTGAGGTTTATTAGGAGACACTGA ATGGGGTGAGGGTTGTGAGGAGACATTGAGTGGGATGAGAGGTGTGAGGA GACACTGAATGTGGTGAGGGTTTGTGAGGAGATACTGCATGGGGTGAGCT TTCTTAGGAGACACTGAGTGGGTAAGAGTTGTGAGGAGACACTGAGTGGG GTGAGGGGTATGTGAGGAGACAGTGATGTGAGGCATCTGTGAGGAGACAC TGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCT GTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGG GGTGAGGGGTATTGAGGAGACACTGAGTAGGGTAAGGAGTCTGTGTGGAG ACACTGAGTGGGGTGAGGGGTTTGTGAGGAGACACTGAGTGTGGGTGAGG GGTCTGTGAGGAGTCATGGAGTGTGGTGTGAGTTGTGAGAAAACTCGGAG TGGGGTGAGGGTCGTGAGGAAACAGTGGGGTGAAGGTTTGTGAGGAGACC CTGAGTGGAGTGAGGGTTGCGAGGAGACATTGAGTGGGATGAGGGTTGTG AGGAGACACTGAGTGGGGTGAGGGTTGTGAGCAGACACTTCATGGGAGGA GGGTTTGTGAGAAGACACTAGGTGGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0007 a0001c0023t0007	a0001c0023t0007g0090 a0001c0023t0007g0090	1	363	0.0028	-1629	c.118 others(19): Show c.1182+2514_1183-3720del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
GALNT9_chr12_132191372_132334589	132233536	AGACAGTG others(1622): Show AGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAG CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT GGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG TGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCAC ACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACAC ACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACAC TCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTC GATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGA TGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATG GGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGG GCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGC GACAGAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGA CAGAGGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTG GAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT CCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCC CTAGTGCCACACACTCGATGGGGTGACAGG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0008 a0001c0005t0001g0008	1	183	0.0055	-1629	c.107 others(21): Show c.1077+12745_1077+14373del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
ADARB2_chr10_1172313_1742525	1237832	CCCTCCCG others(1621): Show CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTAC TCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTT CACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCA CTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTC TGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCCCTCTCCCTCCCGGTGTT TACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGTTTACTC CCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0027 a0001c0001t0018g0027	1	106	0.0094	-1628	c.136 others(19): Show c.1361+2671_1362-3988del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237997	CCCTGCCT others(1621): Show CCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTCC CTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGTCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCG GTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGATACTCCCCT CTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCG GAGTTTACTCCCCTCTCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT CACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	106	0.0094	-1628	c.136 others(19): Show c.1361+2506_1361+4133del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
SH3GLB2_chr9_129002036_129033331	129018376	GACCAGCC others(1621): Show GACCAGCCTGGCCAACATGGTGAGACCCCGTCTCTACTAAAAACACAAAA AATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCGACTTGGAAGG CTGAGGCAAGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCC AAGATTGCGCCACTGCACTCCAGCCTAGGTGACAGAGAGAGACTCCGTCT CAAAAAAAAAAAAAAGAGTTAAGTTAAATTTACCTGAGGCCAGGCACAGT GGCTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAC GAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCTCATCTC TACTAAAAATACAAAAAATTAGCCGAGCGTGGTGGCAGGCGCCTGTAGTC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGAGG AGCTTGCAGTGAGTCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAG AGTGAGACTCCATCTCAAAAAAAAAAAAAAAATTATGTTAGGTAAAAGCA GCTAAATGCAAGAAACAACATGTCATATGATTCCATTTATATAAAATGTT CAGAAAAAATGAACTTATAGGGACCGAAAACACGTTAGTGGTTGGCTGGC TGGAGGTGAAAATGGGGCTTGACAATAGACATGAAGGACTTTTGGGGTGT GATGGAAATGTTCTTTAAATTAGACTGTGGGCCGGGCACGGTGGCACACT CCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGTCACTTCAGCTT AGGAGTTTGAGATCAGCCTGGGCAACATAGCGAGATCCCCATCTCTACAG AAAAATATAAAAATTAGAAGGGCATGGTGGTGGACACCTGTAATCCCAGC TAATCAGGAGGCTGAGGTGGAAGGATGCCTTCAGCCCAAAAGGCAGAGGT TGCAGTGAGCTGAGATTGCACCACTGCAATCCAGCCTGGGGGACAGAGCC AGACCCTGTCTCAAAAAAGGTAACAGAAAATAAAAAATAAATAAGTTTGG CTGGGCGCAGTTGCTCACGCCTGTTATCCCAGCACTTTGGGAGGCTGAGG CGGGTGGATCACCGGAGGTCAGGAGATCGAGACCTGCCTGGATAACATGG TGAAACCCGGTCTCTGCTAAAAATACAAAAATTAGCTGGGAGTGGTGGTG GGCGTGTGCAATCCTAGCTCCTTGGGTAGCTGAGGGAGGACCCGGGATGC TTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACCGCAC TCCAGCCTGGGTGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAA AAAAGTTAGATTGTGGAGATGTTTGTACAACTCTGTAAATTTACTAAAAA TCATTGAATTATACACTTAAACACATAATATATAGCTTATACTTGGATAA AATTTTAAAATGAAAAAAAAAAGATGGATATGGTTCTATAAATGCTTCAG TGAAAAGATACCTGTAATATGATGTCAAGTTAAAAAGTCAGGTTCCAGCC GGGTGCGGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCATGGCG GGCAGATCACTTGAGGTCAGGAGTTGGAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	436	0.0023	-1628	c.334 others(17): Show c.334+1087_334+2714del	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	3/10			chr9	TogoVar
CDH4_chr20_61247261_61945617	61943413	CGTCTGCA others(1620): Show 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	HG02647.hp2 HG02922.hp2 HG03195.hp2 others(1): Show HG02647.hp2 HG02922.hp2 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0038 a0001c0003t0052 a0001c0003t0053 others(1): Show a0001c0001t0038 a0001c0003t0052 a0001c0003t0053 a0001c0003t0054	a0001c0001t0038g0092 a0001c0003t0052g0064 a0001c0003t0053g0074 others(1): Show a0001c0001t0038g0092 a0001c0003t0052g0064 a0001c0003t0053g0074 a0001c0003t0054g0086	4	106	0.0377	-1627	c.64 others(11): Show c.6471_*8097del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2797		chr20	TogoVar
IL3RA_chrX_1331785_1387689	1369838	TGAGGACA others(1620): Show TGAGGACACAGACACACACAGAGGGATGACCCTGTGAGGGCACAGGGAGA AGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTG CCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAA TGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCC TGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACA CAGAGGGACGACCCTGTGAGGACACAGGGAGAAGACGGCGTCTCCAAGCC CAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAG ACCTCCAGCCTCCAGGGCTGTGGGAGAATCAGTGTTTTGTTTCTAAGCCG CCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCT CATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAG GGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAG GAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTG TGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCT GTGACAGCAGCCTGAGATGGAGTAAGACATCTCATAAGAAGAGGAGATGA GGACACAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGAC GGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCA CACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTG TTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAG ATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACAGAGA GGGACGACCCTGTGAGGACACAGGGAGAAGACGGCATCTCCAAGCCCAGG AGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCT CCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCC CAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCA TAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTGTGA GGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGA GGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCT GTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTC TGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGG ACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACG GCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCAC ACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGT TTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGA TGGACTAAGCCATCTCATAAGAAGAGAC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0004 a0011c0014t0004	a0011c0014t0004g0044 a0011c0014t0004g0044	1	115	0.0087	-1627	c.874 others(17): Show c.874+4612_874+6238del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
RAPGEF4_chr2_172730845_173057893	172838084	CAGAAGGC others(1618): Show CAGAAGGCTGAGGCAAAAGAGTACCAGAAGGCTAAGGCTACTGTTCTCAC TTTAGTCTCTCACATTGCTACATATCATTTCCTACAAGAAGTGACCTGTT GGGGGGTCTTCCCTTTGATATCCTAAAAAATGAAACATGTTTATTTCTCT GTGGATATCATGACGTGAAAGAATATCCTCCTCAAAAATATCTTCCCCAT TTTAACTTCAGTACACTTCATAGAAAGATCAGAGTCATGGTAATGGGCCA TTATACCACCATGATCACACACACCAGAACACACTGGGAAATCCGCCTTT GTTATCCCTGCAATTAGGTTTAGTTCTAAAGTGATTAACTTAGAGAAAAT GAAGTAAGATAATATTAAATAAGCCAGCTTTTGGATATTTGATTTATGAC TAAAAGGAAAGGATCCAGAAGCAGCTTTGAGGAAATCTCATGCACGGTAG AAAGTTAATATCTCAAATAAATTTAAAGGCTTTCTAAGCATGCTGGTGAT TAGTTCAATTGTAGATCTCTTTTATCACCTAGATATGGGTTTTAAAAACT ATTGTAGGATCTCTTGGTATGGAGGAGATTCCAGAAAACTTTGTATAAAT GTTTTTGGTAAAATTTAAAGATATTGTGTACCCCAAATATTTTCTCTTCT CTAGGAATTTAGTTTACACATGTGAAAATTTATCTGAAGTGTGATCTTAC ATATACTTGATACACCAAACACAGTCACAGGGGAGGATGGGAGGCAAACT TGCATGAAACGCGTTAGAGAAAACCAAAACCTATTTATTTGAACCATATG TTGTTCTTTACTGCACTTATTTTTTTCTTAAGAAGCACAAATTAATTTAG CTAGTTTCTAAGTTTGGGCAATAAGCAAGTTCTTCTTCCCATGCATCCTT TGATCCCCATCACCAAACAGGGAACAGCTTTCTTCTGGTGTAGGTCTCCA TGACCCCTCCCCTAAAAGATCAGCAACACACTCAGGACCTCCATTTATAT TTTTACTTTTAATGAAATAAATACATCGTGAATATTAATTATGGTGAGTT AGAAGAAAGTGTTCAGCTTCCTTATAAAGCCAGGTCATTGGCTTTGTTAC AGGAAAGGGGTCCTGTAGGAACGGGGGTCCAAGAACGCCAAGAGAGGGTT CTTGGATCTCACACAAGAAAGAATTCAGGGCGAGTCTGCAGTGCAAAGTG AAAACAATGTTATTAAGAAAGTAAAGGAATAAAAGAATGGCTAGTCCGTA GACAGAGCAGCCCTGAGGGCTGCTGTTTGCCCATATTTATGGTTATTTCT TAATGATATACTAAAGAAGGGGTGGATTATTCATGCCTTCCCTTTTTAGG CCATATGGGGTAACTTCCTGACATTGCTATGGCATTTGTATACTGTCATG GCGCTGGTGGGAGTGTAACAGTGAGGATGCCCAGAGGTCAGTCTCTTCAT TATTTGGTATTGGTGGGTTTTGGCCAGCTCCTTAACTGCAACCTGTTTTA TCAACAAGGCCTTTATGACCTGTATTCTGTGCTGACCTCCTATCTCATCC TATGAGTTAGAATGCCTTAAGCATCTGGGAATGCAGCCCGGTAGGTTTCA GCCTCCTTTTACCCAGTTCCTATTTA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG03209.hp1 HG01884.hp2 HG02145.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 a0001c0001t0001 a0001c0001t0002 a0001c0008t0002	a0001c0001t0001g0111 a0001c0001t0002g0039 a0001c0008t0002g0030 a0001c0001t0001g0111 a0001c0001t0002g0039 a0001c0008t0002g0030	3	178	0.0169	-1625	c.444 others(19): Show c.444+23663_444+25287del	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
C7orf50_chr7_992006_1143247	1127871	GAGTGCAG others(1617): Show GAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGT GCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGC AGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGC GATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATC TCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA TCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCG TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGG GCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTG GAGTGCAGTGGCACAATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGT GCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAG TGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGC GCCATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAA TCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTC GGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCGCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCT CATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCA TCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCC ACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCAC CCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCG TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCATCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCTGG GCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCGGGCTG GAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGT GCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAG TGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGC GCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCA TCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTC GGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCT CATCCCACCCTGTCACTCGGGCTGC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00621.hp1 others(23): Show HG00323.hp2 HG00558.hp2 HG00621.hp1 HG01099.hp2 HG01123.hp2 HG01192.hp2 HG02080.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 NA18940.hp1 NA18952.hp2 NA18955.hp2 NA18969.hp2 NA18973.hp2 NA18977.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp2 NA18999.hp2 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0003	a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 others(23): Show a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0003g0263 a0001c0001t0005g0260 a0001c0001t0005g0273 a0002c0002t0003g0281	26	326	0.0798	-1624	c.-1- others(14): Show c.-1-2109_-1-486del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
ZNF516_chr18_76352682_76500242	76392982	CAGGTGGT others(1617): Show CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAG CCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTG GTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0261 a0001c0001t0006g0261	1	346	0.0029	-1624	c.181 others(21): Show c.1811-14303_1811-12680del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
NOC4L_chr12_132139457_132157468	132149094	TACCACAC others(1616): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	294	0.0034	-1623	c.901 others(15): Show c.901+238_902-226del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
C7orf50_chr7_992006_1143247	1127635	AGGCTGGA others(1615): Show AGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGC AGTGGCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC GATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTC GGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATC TCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC AATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA TCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCC TGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTG TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGG GCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGC TGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCCCACCGTCACCTGGGCTGGAGTGCAGTG GCGCGATCTCAGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGC GATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCTCACCGTCACCCG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0287 a0001c0001t0005g0287	1	326	0.0031	-1622	c.-1- others(14): Show c.-1-1871_-1-250del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
ERC1_chr12_986223_1500931	1089158	GTTGTTGT others(1615): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCCATTATTATTATTGTTGTTGTTGTTGAAAGT GCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCCATTATTATTATTGTTGTTGTTGTTGAAAGT GCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTG TGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02280.hp1 NA19030.hp2 HG01517.hp1 HG02280.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0110 a0001c0001t0111 a0001c0001t0008 a0001c0001t0110 a0001c0001t0111	a0001c0001t0008g0086 a0001c0001t0110g0013 a0001c0001t0111g0017 a0001c0001t0008g0086 a0001c0001t0110g0013 a0001c0001t0111g0017	3	162	0.0185	-1622	c.108 others(19): Show c.1086+5588_1086+7209del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
SERPINF2_chr17_1737871_1760265	1740014	GACAGTGA others(1615): Show GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGG GTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCAGGACAGTCAGGGTGGGAGGCGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGG GCCTGATGCAGGGAGTGAGGAGCCGGACACTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAAGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAA GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAAG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCTGGACAGTGAGGATGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGCGCAGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03453.hp2 HG03579.hp1 HG02615.hp2 HG03453.hp2 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0013 a0003c0003t0001g0043 a0003c0003t0001g0102 a0003c0003t0001g0013 a0003c0003t0001g0043 a0003c0003t0001g0102	3	445	0.0067	-1622	c.-28 others(11): Show c.-2898_-1277del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2856		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740014	GACAGTGA others(1615): Show GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGG GTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCAGGACAGTCAGGGTGGGAGGCGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGG GCCTGATGCAGGGAGTGAGGAGCCGGACACTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAAGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAA GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAAG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCTGGACAGTGAGGATGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGCGCAGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02818.hp2 others(4): Show HG02630.hp2 HG02647.hp1 HG02818.hp2 HG03139.hp2 HG03579.hp2 HG06807.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0007 a0001c0026 a0004c0043 a0001c0007 a0001c0026 a0004c0043	a0001c0007t0001 a0001c0026t0001 a0004c0043t0001 a0001c0007t0001 a0001c0026t0001 a0004c0043t0001	a0001c0007t0001g0005 a0001c0007t0001g0055 a0001c0007t0001g0056 others(2): Show a0001c0007t0001g0005 a0001c0007t0001g0055 a0001c0007t0001g0056 a0001c0026t0001g0028 a0004c0043t0001g0096	7	431	0.0162	-1622	c.23 others(11): Show c.2330_*3951del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1430		chr17	TogoVar
TMEM132D_chr12_129066726_129909025	129087951	CTCCCTGA others(1614): Show CTCCCTGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGT GTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGG GTGTCCTCCATGACCGGGGTGTCCTCCCTGACCGGGTGTCCTCCCTGACC GGGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCCTG ACCGGGTGTCCTCCCTGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCCA TGACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTC TATGACTGGGTGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGTGTCC TCCATGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGTGT CCTCCATGACCGGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGGG TGTCCTCCCTGACTGGGGTGTCCTCTATGACCGGGTGTCCTCCATGACCG GGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGAC CGGGATGTCCTCCATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCTG ACCGGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCA TGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGATGTCCT CCATGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGTGTC CTCCCTGACCGGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGGTG TCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGG TGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGACCG GGTGTCCTCCATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACC GGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGTGTCCTCCCTGACCGGGATGTCCTCCATGACCGGGGTGTCCTCTA TGACCGGGATGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGATGTCCT CCATGACCGGGGTGTCCTCTATGACCGGGATGTCCTCCATGACCGGGGTG TCCTCCATGACCGGGGTGTCCTCTATGACCGGGTGTCCTCTATGACCGGG TGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGACCG GGTGTCCTCTATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACC GGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCTATGA CCGGGTGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGATGTCCTCCAT GACCGGGGTGTCCTCTATGACCGGGATGTCCTCCATGACCGGGTGTCCTC CCTGACCGGGATGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGGTGT CCTCTATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTG TCCTCTATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGT GTCCTCCCTGACTGAGGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0073 a0001c0001t0020g0073	1	94	0.0106	-1621	c.144 others(19): Show c.1444-4870_1444-3250del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
ABR_chr17_998519_1184981	1117318	TCCTCCCC others(1613): Show TCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTG AGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGT TATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCT CCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCG GAGTTCCTCCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCC CTGAGCCCGAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAG CGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTT CCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGA GCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTT ATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCC CAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTG AGTCCCTCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCC TGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGC GTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTC TCCCCAGCGTTATCGCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGC CTGAGTCCTTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTAT CCCTGAGCCTGAGTTCCCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCC AGCGTTATCCCTGAGCCTGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGA GTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCT GAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCG TTATCCCTGAGCCTGAGTCCTCCCAGCATTATCCCTGAGCCTGAGTTCCT CCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCT GAGTCCTCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCC TGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGC GTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCGCTGAGCCTGAGTTC CTCCCAGCGTTATCCCTGAGCCTGAGTTCTTCCCAGCGTTATCCCTGAGC CTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTAT CCCTGAGCCTGAGTTCCCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCC AGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAG TCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGA GCCTGAGTTCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCAGCGTTAT CCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTTCCC AGCGTTATCCCTGAGCCTGAG	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0037 a0001c0004t0037	a0001c0004t0037g0017 a0001c0004t0037g0017	1	337	0.0030	-1620	c.246 others(17): Show c.246+6245_246+7864del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ANKRD30B_chr18_14743172_14859667	14856732	TGGGAAGA others(1613): Show TGGGAAGAGGCGCTCCCCACTTCCCAGACAGGGTGGGAGCTGGGCAGAGG CGCTCCTCACAACCCAGACAGGGTGGCCGGGCAGAGGCACTCCTCACCTC CCAGACAATGGGCAGCCAGGCAGAGGCACTCCTCACTTCCCAGATGGGGC GGCTGGGCAGAGGTGCTCCTCACTTCCCAGATGGGGCAGCTGGGCAGAGG CGCTCCTCACTTCCCAGATGGGGCAACCAGGCAAGAGGTGCTCCTCATTT CCCAGATGGGGCGGCTGGGAAGAGGCACTCCTCACCTACCAGACGAAGGG CAGCCAGGCAGAGGCACTCCTCACATCCCAAACGATGGGTGGCCGGGCAG AGGCACTCCTCACCTCCCAAACGGGGCGGCTGGGCAGAGGTGCTCCTCAC CTCCCAGGGGGGGCAGCCAGGCAGAGGGGCTCCTCACCTCCCAGACAATG GGCAGCCAGGCAGAGGTGCTCCTCATTTCCCAGACGGGGTGGCCAGGCAG AGGCACTCCTCACCTCCCAGACATCACGGCCAGGCAGAGGTGCTCCCCAC TTCCCAGACGGGGCGGCTGGGCAGAGGCGCTCCTCACCTCCCAGATGAGG CGGCCTGGCAGAGGAACTCCTCACCTCCCAGATGATGGGCAGCTGGGCAA AGGCGCTCCTCACCTCCCAGACTGGGCGGCCAGGCAGAGGTGCTCCTCGC CTCCCACATGGGGTGGCCGGGCAGAGGCACTCCTCACCTCCTAGATGGGG TGGCTGGGCAGAGGCGCTCCTCACCTCCCAGACGGGGAGACCAGGAAGAG GCGCTCCTCACCTCCCAGATGGGGCGGGCTGGCAGAGGCGCTCCTCACCT CCCAGATGATGGGCAGCTGGGCAAAGGCGCTCCTCACCTCCCAGACTGGG CGGCCAGGCAGAGGCGCTCCTCGCCTCCCACATGGGGTGGCTGGGCAGAG GCGCTCCTCACCTCCTAGATGGGGTGGCCGGGCAGCGGCGCTCCTCACCT CCCAGACGGGGAGACCAGGAAGAGGTGCTCCTCACTTCCCAGATGGGGCA GCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGTGTGTCATCCGTGAAGA GGCGCTTCTCACCTCCCAGATGATTGGCAGCCAGAGAAAGGTGCTCCTCA CTTCCCAGATGGGGCGGCCGAGAAATGCCACTCCCCATTCCCAGATGGGG TGGAGGTCAGGCAGAGGCGCTCCTCACCTCCCAGATGGGGCAGCCGGGCA GAGGCGCTCCTCACCTCCCAGATGGGGAGGCTGGGCAGAGGCGCTCTTCA CTTCCCAGAGGGGGTGGCCGGGCAGAGGCGCTCAACTGCCAGACCGGGCG GCCAGCCAGAGGAACTCCTCACCTCCCAGACAATGGGCGGCTGGGGAGAG GTGCTCCTCACCTCCCAGATGATGGGCAGCCAGGCAGAGGCGCTCCTCAC TTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCTTCACTTCCCAGATGGCG CGGCCAGGCAGAGGCGCTCCTCAGTTCCCAGATTGTGTGTCGTCCATTCA GAGGCACTCCTCACCTACCAGATGATGGGCAGCTGGAGGGAGGCACTCCT CACCTCCCAGATGGGGCGACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0237 a0003c0006t0001g0237	1	316	0.0032	-1620	c.25 others(11): Show c.2575_*4194del	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding		2066		chr18	TogoVar
SERPINF2_chr17_1737871_1760265	1740214	GCCTGATG others(1612): Show GCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCAGGACAGTCAGGGTGGGAGGCGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGG GCCTGATGCAGGGAGTGAGGAGCCGGACACTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAAGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAA GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAAG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCTGGACAGTGAGGATGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGG AGCAGGACAGTGAGGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01099.hp1 HG01123.hp2 others(14): Show HG00423.hp1 HG01099.hp1 HG01123.hp2 HG01361.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02523.hp1 NA18951.hp2 NA18961.hp1 NA18968.hp1 NA18989.hp2 NA19077.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0006 a0001c0001t0003g0006 a0001c0001t0005g0108 others(7): Show a0001c0001t0001g0006 a0001c0001t0003g0006 a0001c0001t0005g0108 a0001c0001t0006g0006 a0001c0001t0006g0044 a0001c0001t0006g0138 a0001c0001t0008g0006 a0001c0001t0008g0107 a0001c0001t0008g0110 a0001c0001t0008g0130	17	445	0.0382	-1619	c.-26 others(11): Show c.-2698_-1080del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2656		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740214	GCCTGATG others(1612): Show GCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCAGGACAGTCAGGGTGGGAGGCGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGG GCCTGATGCAGGGAGTGAGGAGCCGGACACTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAAGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAA GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAAG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCTGGACAGTGAGGATGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGG AGCAGGACAGTGAGGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01099.hp2 HG01123.hp1 others(12): Show HG00423.hp2 HG01099.hp2 HG01123.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02273.hp2 HG02523.hp2 NA18961.hp1 NA18989.hp1 NA19001.hp2 NA19067.hp2 NA19077.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0035 a0001c0002 a0001c0035	a0001c0002t0001 a0001c0035t0001 a0001c0002t0001 a0001c0035t0001	a0001c0002t0001g0001 a0001c0035t0001g0001 a0001c0002t0001g0001 a0001c0035t0001g0001	15	431	0.0348	-1619	c.25 others(11): Show c.2530_*4148del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1630		chr17	TogoVar
DIP2C_chr10_269201_694668	401975	AAATCCTG others(1610): Show AAATCCTGTGATTTTACATGTGTGGTAGCATTAGCATTACTCTTCCTTAT GGACAAGTTTGGTATGTGTTCATCAGCACATGAATCCTGTGATTTTACAT GTGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTACGTTT TCATCAGCACATGAATCCTGTGATTTTACATGTGTGGTAGCATTAGCATT ACTCTTCCTTATGGACAAGTTTGGTACATTTTCATCAGCACATGAATCCT GTGATTTTACACGTGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAG TTTGGTATGTGTTCATCAGCACATGAATCATGTGATTTTACATGTGTGGT AGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTACGTTTTCATCAG CACATGAATCCTGTGATTTTACACGTGTGGTAGCATTAGCATTACTCTTC CTTATGGACAAGTTTGGTATGTGTTCATCAGCACATGAATCCTGTGATTT TACACGTGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTA TGTGTTCCTCAGCACATGAATCCTGTGATTTTACATGTGTGGTAGCATTA GCATTACTCTTCCTTATGGACAAGTTTGGTACATTTTCATCAGCACATGA ATCCTATGATTTTACATGAGTGGTAGCATTAGCATTACTCTTCCTTATGG ACAAGTTTGGTATGTGTTCATCAGCACATGAATCCTATGATTTTACATGT GTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTATGTGTTC CTCAGCACATGAATCCTGTGATTTTACATGTGTGGTAGCATTAGCATTAC TCTTCCTTATGGACAAGTTTGGTATGTGTTCATCAGCACATGAATCCTGT GATTTTACATGTGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTT TGGTACATTTTCATCAGCACATGAATCCTGTGATTTTACATGTGTGGTAG CATTAGCATTACTCTTCCTTATGGACAAGTTTGGTACATTTTCATCAGCA CATGAATCCTGTGATTTTACACATGTGGTAGCATTAGCATTACTCTTCCT TATGGACAAGTTTGGTATGTGTTCCTCAGCACATGAATCCTGTGATTTTA CATGTGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTACA TTTTCATCAGCACATGAATCCTATGATTTTACATGAGTGGTAGCATTAGC ATTACTCTTCCTTATGGACAAGTTTGGTATGTGTTCAGCACATGAATCCT ATGATTTTACATGTGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAG TTTGGTATGTGTTCCTCAGCACATGAATCCTGTGATTTTACATGTGTGGT AGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTATGTGTTCATCAG CACATGAATCCTGTGATTTTACATGTGTGGTAGCATTAGCATTACTCTTC CTTATGGACAAGTTTGGTACGTTTTCATCAGCACATGAATCCTGTGATTT TACACGTGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTA TGTGTTCATCAGCACATG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00609.hp2 others(47): Show HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp2 HG02071.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02300.hp1 HG02602.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG03942.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA19007.hp1 NA19007.hp2 NA19066.hp2 NA19074.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(12): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(18): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0006t0001 a0001c0006t0002 a0001c0007t0002 a0001c0007t0007 a0001c0009t0001 a0001c0009t0003 a0001c0010t0002 a0001c0011t0003 a0001c0017t0002 a0001c0018t0003 a0001c0019t0006 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003 a0001c0023t0003	a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0001g0057 others(47): Show a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0002g0055 a0001c0002t0002g0067 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0036 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0047 a0001c0002t0003g0059 a0001c0002t0003g0063 a0001c0002t0003g0082 a0001c0003t0002g0021 a0001c0003t0002g0032 a0001c0003t0002g0037 a0001c0003t0002g0053 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0069 a0001c0004t0001g0041 a0001c0004t0001g0068 a0001c0004t0001g0084 a0001c0004t0001g0086 a0001c0004t0003g0039 a0001c0004t0003g0078 a0001c0006t0001g0045 a0001c0006t0002g0038 a0001c0006t0002g0046 a0001c0006t0002g0058 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0007t0007g0060 a0001c0009t0001g0007 a0001c0009t0003g0003 a0001c0010t0002g0001 a0001c0011t0003g0088 a0001c0017t0002g0064 a0001c0018t0003g0011 a0001c0019t0006g0014 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002 a0001c0023t0003g0071	50	88	0.5682	-1617	c.115 others(19): Show c.1150-4373_1150-2757del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	9/36			chr10	TogoVar
FYB2_chr1_56713789_56824404	56743073	ATTTTAAA others(1610): Show ATTTTAAAATCTACTCTCAGCAATTTTCAAGTATATAATACTTTTGTTAT TAACTATAATCACTGTTGTACTATAAACTTCCTGAAGGTACTTCTCCTAA TTGAAATTTTGTATCCTTTGACCAATACCTCCCCATTACTTTTTCATTCA TGAATTCCTTCATTCAACAGATTTTTTTGAATATCTAACATGTACTTGGC ATTATGCTAGGGGCTGGAGAAAATGGTATGTATAAAGAAGGTAATAATCT AGGAGGGGAGACATTAATTAAAAAGTCACATAAGTATAAAATTACAACTG TGACAAGTACTATGAAAAAGAAGTCCATGGTACTATGAGATTGTACACCA AGGAGAATATTCCCTGTGGAAATAATGATTGAGCTGAGATTAGAAGATTA AGAGTCAGTGAAACAAAGGTACCCAGGGGAGGAAAGAGCATTCCGGAAAG GGAGGGAAAAGCATATGAAAATATCCTGCTGTTGGAGCTTGGCAAATTAT ACAAGCTAAAAGAAGGTCAGCATAACTGGGTCTCAAAGATGAAGATTGAG TACAGTGTGAGATGAGGCTCCAGAGGTCTGTAGGGGTAGGTTAGTCAAGG ACTCTAGATCATGTCAGAAGCCAATCTTAAAAGTATTGGAAAGCCAAGAA AGTGTTTTAAGTAAAAACAGTCCTATAATCAGACTTACACTGTGAAAAGA TCAGGAAGGAAGTAAACTCACTTTTACCATAAGAATGCTCTTACCAGCAT CTTCATGTTCCTGATTCTAAATGCATTTATTAGCACATACCTTGGTATTG CTGTTAGCACATATCTTGGTATTGCTTCTCTTAGCTTCCCACAAATTGGC ATTATTAAAATATGAATAATTAAAAGACATCTTATCACTAATCAGCCATA GAAGCATTCTGCAATTCCTACTGGCAACTTCAGAAATGTCTTCCTATACT TACCACTACTTGAGGCAAGTGAGCTAGAGTAGTTCAGCTTCGGTCTATGG GAGAAAATAACAAAGACCATTATTGTACCTTTAAAGTCTCATCACATTCA TCTTGCTGAAAGACTGGAATGTTACTTACACCTCTTTCCTGGAGTACTCG ACATCATCATATATCTCCTCCGAGATGGAACTTGTCTTAGAGACCCCTAG GTCTGGAGTTTCTTTAGTTGACTCCAAAACCTCCAGATGCCCACCTGAAA GGAAACCAGAAAACCTGAAAAACATCACATCAGCTGCCATCATAAAGTCA TTCACACACATCACTGGCAGTGGAGGCAAGCATAAGAAAAGGCAGATTAA ATGGGCTAAAATTGGATTACAGTCTTGGTATGTATGATCCTTGGGCAAGC CACTTCACTTTGTAGAGCCTCAGTTATGATTCTCTGAAGTTGAGGATAAT GATGCTAACACCGAATCATGTGGTTTTGGCAAGGATTAAATACATATTTA TGAAGGGTGCTGGTTACCTAGTAAACTAGTAACTCCCTTCTTTGATGGTT CTTCCTTTAATCCCTGACCTCAAACTTTGAAGTCTACCAGGGTACATCCC TGGGGCTTATCTCTCTACATCTAGATGATCTTATCCAGTCTTACGGCAGT TCTTAAAGCAAAATTTCT	A A	exon_loss_variant exon_loss_variant	HIGH	HG00597.hp2 NA19063.hp1 HG00597.hp2 NA19063.hp1	a0006 a0006	a0006c0017 a0006c0023 a0006c0017 a0006c0023	a0006c0017t0001 a0006c0023t0002 a0006c0017t0001 a0006c0023t0002	a0006c0017t0001g0262 a0006c0023t0002g0225 a0006c0017t0001g0262 a0006c0023t0002g0225	2	380	0.0053	-1617	c.138 others(17): Show c.1388-424_1544-853del	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	11/20			chr1	TogoVar
SLC35E1_chr19_16544837_16577415	16547732	TAAAAATA others(1610): Show TAAAAATACAAAAATTAGCCGGGCGTGGGGGCAGGCACCTTTAATTCCAG CTAATCAGGAGGCTGAGGCAGGATAATCACTTGAACCTGGGAGGGGAAGG TTGCAGCAAACCGAGATTGCGCCACTGCCCTCTAGCCTGGGTGACAGAGC GAGACTCTGTCTCAAAACAAAAACAGAAACAAAAAAGCCATGTATCTGAG ATTGAAAATATAAGCCTCAGAGGGACCTCTACCAAGCTCATTTCAAAGGG TCAAATCAGAATCTACTGGTCAGAAGAAAGCAGTAGAAAGAGCTGGTAGA CTGGCTGCTGCAGATACTCTCCAGCAAGTAAAGTGGACACCTCGAGTGAG ATGAGCCTTGTGAAGGGACTCACCTAAGCAGCAACATGGAGGGCCAGGTG CACTGAGGGGGTTCTGTGGCCCATATGTCTGCTAGTTGTGATTTCTTGAG TCTGGACCCCTTAATCGGAATGGTCTCATTGTGGTCAGGGTCAGATGGTA ACTAAAGTTTTGTGGGGTTTTATTGAAGACAGGGTCTCGCTCTGTCACCC AGGCTGGAGTGTAGCAGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCC ACGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAG GAGCGTGCCACCACGCCTGGCTAGTTTTTTGTATTTTTAGTCGAGATGGG CTTTCACTATGTTGGCCAGGCTGGTTTTGCACTCCTGACCTCAGGTGATC TGCCCACCTTGGCTTCCCAAAATATTAGGATTACAGGCGTAAGCCCTGCC ACCTCCCCCTAGTCCCCCATCCCCCGGGTCTTAGCATTTCTAAGTAGCTC CCATGTGCTACTTAGTTACATACCTGTCATTTAGGCTGAGTGCTTTGAAG GTAGGAGGCTTACATATCTGTTTCCTGCTGCTTGACACAGCCAGTGCTTA GTAAATCACTAAACAAAAAGATTATGAATGAAAAGGACATGGGCAACAGT TTCAGCAGAAACTCAAACCCTTTCTGTCTGAAAGAAATCCTTTGCTGGGG ATGGCTTAAGTAATGGGGAAAAATGGGTTCTGGAGCCAGATTTAAGCAGT TATGTAATCCCAGATGAGTGACTTGACCCCGTTGGGCCTCATTTTCACCT GAAAAACAAGGCTAATAAAACTCACAAAGGTATCGTGTGTGAAAAGCTCA CCACTGAGCTGGGCATGTAGCAGGTACACAGTCTTGGCTGTCAATACTCA AAAATGGCTTCAGGCTGGGCACGGTGGCTCACACCTGTAATCCCAACACT ATGGGAGCCAAGGCAGGTGGATCACTTGAGCCCAGGAGTTCCGGACCAGC CTGGGTAACACAGAGCCCCATCTCTAAAAATATTTTAAAAATTAGCTGGG TGTGGTAGTGTACACCTGGACCAGCTACTTGGGAGGCTGAGGCAGGGGAC TGGAATGTAGGGTTTGGTGCTGCAGGAAGCTGTGGTCGTGCCACCGCAGT CCAGCTTGGGTAATAAGGTGAGACCCTGTCTCTTAAACCAAAAACATAAC AGGCCAGATAGCTTGAGCCCCAGAGTTTGAGACTAGCCTGGGCAACAAGG TGAAACTCCATCTTTACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02818.hp2 HG03225.hp2 others(1): Show HG02109.hp2 HG02818.hp2 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0029 a0001c0001t0002g0030	4	350	0.0114	-1617	c.43 others(11): Show c.4330_*5946del	SLC35E1	ENSG00000127526.15	transcript	ENST00000595753.6	protein_coding		2104		chr19	TogoVar
GPATCH2_chr1_217421992_217636090	217522695	AGATTGGC others(1609): Show AGATTGGCAATCTATATATCTTCTAAAATTCTAATTTATATACCATGATA ATCTAAATGTGGATTTTCTTACTCAATTCATATCAAAGCAATTCACATCT GCATTTAAAAACAAATAGTTTTGGGGACTTGTTCAATACACACACACACA CACACACAACTTCTCAAAATTAAGTTTATATTTAGGCTTGGCAAACTGAC TTTGGAGGCAAACACAAAGAAGACTGAATTTAAAAACTTGAAAGAATTTG TAACTTTAAAAAACAGATTAACATTTTATGTAATGGTTTATGAAAATACT ATCTTGGAAACATAGTAATCCAAAGCAATTAAAAAAATTTCTATATTATT GCTCCTATGTTTGGGTGGAAGTAATTTTATATTCAAAATGAAATAGCAAT TAAGAAGGCAAAACCTTGCTTGTATTAGGAAATGTCAATTCAGTATTCAT AATAGAGAAGAAAAAAAATTTCAGTTTTTTATTTTATTTTATTTTTTTAT TGATCATTCTTGGGTGTTTCTCCCAGAGGGGGATTTGGCAGGGTCACAGG ACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTG GTTTTCCTAGGCAGAGGACCCTGCAGCCTTCCGCAGTGTTTGTGTCCCTG GGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTT CAAGCGTCTGTTTAACAAGGCACAACTTGCACCGCCCTTAATCCATTTAA CCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAG GTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAA CAAAATGAAAAGTCTCCCATGTCTACCTCTTTCTACACAGACACGACAAC CATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCCCTTTCTATTCCACA AAACCGCCATTGTCATCATGGCCCATTCTCAATGAGCTGTTGGGTACACC TCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAG GTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGTGGCTGGCCGGG CGGGGGGCTGACCCCCACACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCACACCTCCCTCCCGGACGGGGCAGTTGGCCGGGCG GGGGGCTGACCCCCACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGTGCCCCTCAC CTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCAGACGGGGTGGCTGCCGGGCAGAGACGCTCCTCACTTCCCAGACGG GGTGGCTGCCGGGCGGAGGCTCCTCACTTCTCAGACGGGGCGGCTGCTGG GCGGAGGGGCTCCTCACTTCTCAGACAGGGCGGTTGCCAGGCAGAGGGTC TCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTA GATGGGATGGCGGCTGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02896.hp1 HG03540.hp2 HG01884.hp1 HG02896.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009	a0001c0001t0003g0077 a0001c0001t0007g0075 a0001c0001t0009g0098 a0001c0001t0003g0077 a0001c0001t0007g0075 a0001c0001t0009g0098	3	188	0.0160	-1616	c.109 others(19): Show c.1099-9422_1099-7807del	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
CNTNAP5_chr2_124020287_124926219	124086268	CTCATTGC others(1607): Show CTCATTGCAAGCTCCGCCTCCCGGCTCCCGGGTTCACTCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTGCAGGTGCCTGCCACCACGCCCGGC TAATTTCTTGTATTTTTAGTAGAAACGGGGTTTCATCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCTCTAACT GCTGGGATTACAAGCGTGAGCCACTGTACCTGGCCTGGTGTACACACTTT TATAATTGCTACAACTTCTTGGTGTATTGACCCTTTTATCAGTATATAAT ACATCTCTCTGGTTCTGGTAATTTTTTTTGCTCTGAAGATAAGATATATT ATCTATATCTTATCTTCTAAGTTTCCTTTGATTAATACTTCCATGAGATA TCTTTTTCCATCCTCTTAATTTCAGCCCATTTTGTCATATTTATAGTAAG TTTTTTGTAAACAACATAGTTGGGTCATGGCTTATAATCCTATCTGATAA TCCCTGTCTTTTAAGTGGTAACCTTAGGCCATTTATATTTTATTTTATTT TAATATATTAGAATTTAACATTTAATATTTTGTTTTCTGTGTGCTGTTTG TCTCTTCTCTGCTTTCTTTTTCTTAACTTATTGTGGATTACTTGAACATT TATTTAAAATTCCATTTTGCTTTATTCATAGTGCTTTTGAATACATCTTT TTATATAGCTTTATTAGTAACTGCTAGGTATTACACCCTATTTTATATAG GTAACTTGTCACAGTTTACTGGTGTCATCATTTTATCAGTCTGAATAAAA TACAGAAACCTTACTTCTTTTTGTGCCCCTTTATCCTTCGCCTTTGGTCA TATAATTGTTTTAATTATTTCCTCTGCATACACTTAGACTTAGAAGCACA TTATACGACATTACAATGTTTGCTTCAAGTGTCCCAAACATAATTTAGAA AACTCAAGACAAAAACGAAAGCTTACTGAATCTACCCACATTTTTTGTTT ACTGTGTTCCTTCTACCTTCTTGATGTTCCAAAGTTCCTTCTTTTATTTT TTCTTTCTATTTAGATAATAGAGTATAGTCATTATTTTAGGATAGGCCTG CTGGTGACAAGTTTTCTTAGATTTCTTCATCTGAGGTTTTTAAAATTCCC TCTTTACACTTAAAGAATATTTTTGGCTGGGCGTAGTTGCTCACGTCTGT AATCCCAGCACTTTGGGAGGCCAAGGGGGGCAGATCATGAGGTCAAGAGA TTGAGGCCATCCTAGGCAATATGGTGAAACCCCATTTCTACTAAAAATAC AAAAATTAGCTGGGCGTGGTGGCGTGGGCCTGTAGTCCTAGCTACTAGGG AGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTACAGTGA GCTGAGATGGTGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGATTCCA TCTCCAAAAACAAAAAATATATTTTCTTAACCACACTAAAAGTATTGTGC TCCCTTTTTTCTGAACTCCATGGTTTCTGATGGGAAACCTATTGTCACTT GATTTGTTTTGTTTTGTTTTCATTATGGGTAAGATGTCATTTTTCTCAGG TGGCTTTCAAGATGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20300.hp1 HG02922.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0022 a0001c0001t0002g0023	2	64	0.0313	-1614	c.82+ others(17): Show c.82+60538_82+62151del	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
DZIP3_chr3_108584722_108699840	108681732	ATGGAATA others(1606): Show ATGGAATACTCTGCCGCCATAAAAAAGGATGTGTTCATATCCTTTGCAGG GACATGGATGAAGTTAGAAGTCACCACTCTCAGCAAACTAACACAGGAAT AGAAAACCAAACACTGCATGTTCTCACTCATAAGTGGGAGTTGAACAATG AGAACACATGGACACAGGGAGGGGAACATCACACACTGGGGCCTGTCGGG GGGTGGGGGCTGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATG ACGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGAAA CAAACCTGTACATTCTGTACATGTATCCCAGAACTTAAAGTATAATAATT AGAAAAAAAAAGAACAGCTATTATCAAAAAACAAATGATATCAAATGTTG GCGATGATGTGGAGAAAAGGGAACCCTTACACACTGTTGGTGGGAATGTA AATTAGCGCAGCTATTATGGAATACAGTATCGAGGTTCCTCAAAAAATTA AAAATACAACTACCATATGCTCCAACAATCCTACTACTAGGTATAGTGGG AAAGGACATGAAGTCAAGTATCCTGAAGAGACACCTGCACTCCTATGTTC ACTGCAGTATTATTTACCATTGCTAAGATATGTCATCTACATAAGTGTCC ATAAAGGTTGGATAAAGAAAATGTATATATACACAATGAAATACTACTTA GTCATAAAAAAGAATGAAATCCTGTCATTTGTGACAACATGGATGACCCT GGAGGACGTTATGTTAAGTTAAATAAGCCAGACACAGAAAGACAAATACT ACCTGATCCCACGCATGTGGAATCTAAAACAGTTGGTCTCATAAAATTAA TGAAAAAACAGTGGTTACCAGAGACTAGGGAGGATAGATGGAAGGCAAGC ACAGGGAGAGGTTGGTTGGTCAATGGGTACAATTAGAAAGGAAGGATAAG TTCTGGCGTTCTATTAGTAAGATGATTATAGTTAACAGTAAGGTATTATA TATCTCAAAATGGCTAGAAGAGAGGATTTTGAATATTAGAACCACAAAGA AATGACAAATGAAGTGATGAATATGCCAATTACCCTTTGATCGTTACACC ATACATGTATACATGTATGAAAACCTCACATTGTACCCCATAAAAATGTA CAATTATGTGTCCATTGAAAATAAAAATAAAGTGTTAGGTAATAGTGGTT CTCAAACAGAGCAGGACTGTTGACTCAGTACCCACCATTCATTCATTTTT TTAAGACTTTACATGTAAAAAATTTGACACATATGTAAAAAATAGTATAA TCAACCTCTTCAAACCCAGGAGCCAGCCTCAGCATTATCAATATATTGTC AGCCTTGTTTTATGTCATTCCCTTTTTCCTCTCCACTGGAATATTTTAAA GCAAACCCCAGATATCATCCAATTTATCCATTTATGCTTTAGGATATATC CTAAAAGATGAGGAACTCTTACTGGATATAATCATAACACCATTGTCTTA CCTAAGAAAATTATAATTTTTAATATCCAGTTAGAATTTTTGTTTCCCAG TTGTTTAAAAAATCTCTTTTTCTTACCTAGCAATCACATAATGTTCTTTT AAGATGTTAAAACT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02559.hp1 HG02717.hp1 others(5): Show HG00735.hp2 HG02559.hp1 HG02717.hp1 HG02976.hp1 HG03098.hp1 HG03453.hp1 HG03471.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0003c0006t0002 a0001c0001t0003 a0003c0006t0002	a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 others(4): Show a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0003c0006t0002g0003 a0003c0006t0002g0220 a0003c0006t0002g0221	8	318	0.0252	-1613	c.288 others(18): Show c.2884-2483_2884-871del	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	26/32			chr3	TogoVar
ERC1_chr12_986223_1500931	1089232	GAAAGTGC others(1606): Show GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTAT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCC CGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATA TGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTG AGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTG TTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTA TTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCT ATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATT ACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTT GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTAT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCC CATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATA TGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTG AGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTG TTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTA TTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCT ATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATT ACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTT GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTGTGCCTGGCCCATTATTATTATTAT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCC CATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0132 a0001c0001t0103g0132	1	162	0.0062	-1613	c.108 others(19): Show c.1086+5653_1086+7265del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18			chr12	TogoVar
ADARB2_chr10_1172313_1742525	1235644	GCCTCCCG others(1605): Show GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGT GATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCA CCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCCACTGC TGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGATTTGCC AGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAGCC TGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAG GCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAAC GGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCC AGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTG TGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTG AACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT CACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACC CAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCT GTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTC TGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCG GTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATTCCCTCTTGCCTCC GGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCCCCCCTGCCTCCGG GTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCCCCTGCCTCCGGGT GTTAACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTGC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0062 a0001c0001t0052g0062	1	106	0.0094	-1612	c.136 others(19): Show c.1362-3411_1362-1800del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
CCDC127_chr5_191868_223153	211766	TGAGACAG others(1605): Show TGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGT GAGCACGCTGAGATGCTCGACATCGCACACTGCAGCCACGACGAGACAGC ACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACACT GATGCTCGACATCGCACACTGCAGCCACGACGAGACAGCACCACACACCC ATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACACTGATGCTCGACA TCGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGG GCAGACGGGACAGCAATGTGAGCACGCTGATGCTCGACATCGCACACTGC AGCCACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGAC AGCAGTGTGAGCACGCTGATGCTCGACATCACACACTGCAGCCACGATGA GACAGCACCACACACCCATCACGATGGGGCAGACGGGACAGCAGTGTGAG CACGCTGATGCTCGACATCGAATACTGCAGCCACGATGAGACAGCACCAC ACACCCATCACGATGGGGCAGACGGGACAGCAATGTGAGCACGCTGATGC TCGACATCGCACACTGCAGCCATGACGAGACAGCACCACACACCCATCAT GATGGGGCAGACTGGACAGCAATGTGAGCACGCTGAGATGCTCGACATTG CACACTGCAGCCACGATGAGACAGCACCACACACCCATCAGGATGGGGCA GACGGGACAGCAATGTGAGCACGCTGAGATGCTCGACATTGCACACTGCA GCCACGACGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACA GCAGTGTGAGCACGCTGATGCTTGACATCGCACACTGCAGCCACGATGAG ACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGC ACGCTGATGCTCGACATCGCACACTGCAGCCACGATGAGACAGCACCACA CACCCATCAGGATGGGGCAGACGGGACAGCAATGTGAGCATGCTGAGATG CTCGACATTGCACACTGCAGCCACGATGAGACAGCACCACACACCCATCA GGATGGGGCAGACGGGACAGCAATGTGAGCACGCTGAGATGCTCGACATT GCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGGGC AGACGGGACAGCAGTGTGAGCACGCTGATGCTTGACATCGCACACTGCAG CCACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAG CAGTGTGAGCACGCTGATGCTCGACATCGCACACTGCAGCCACGATGAGA CAGCACCACACACCCATCACGATGGGGCAGACGGGACAGCAGTGTGAGCA CACTGATGCTCGACATCGAATACTGCAGCCACGACGAGACAGCACCACAC ACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACACTGATGCTC GACATCGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCACGA TGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCGACATCGCACA CTGCAGCCATGAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02647.hp2 others(4): Show HG02257.hp2 HG02280.hp1 HG02647.hp2 HG02895.hp1 HG03471.hp1 NA18522.hp2 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0179 a0002c0004t0180 a0002c0004t0181 others(4): Show a0002c0004t0179 a0002c0004t0180 a0002c0004t0181 a0002c0004t0182 a0002c0004t0183 a0002c0004t0184 a0002c0004t0185	a0002c0004t0179g0234 a0002c0004t0180g0235 a0002c0004t0181g0236 others(4): Show a0002c0004t0179g0234 a0002c0004t0180g0235 a0002c0004t0181g0236 a0002c0004t0182g0237 a0002c0004t0183g0238 a0002c0004t0184g0239 a0002c0004t0185g0233	7	406	0.0172	-1612	c.121 others(17): Show c.121+3351_121+4962del	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
RNGTT_chr6_88604897_88968618	88705321	CAGTGGTA others(1605): Show CAGTGGTATAATGTCAGTCTAAAACATACTTGAGAAATGTAATACAGATT TTTTAGTGAAAGAATATGAAGCAAACTTATATGTAGATTACTTTTCCCTA AAATATTTTGGTATGCAAAACCAAAACTGACAGCTAAAGTTCTGACATGA TCTGAACAAGATAAAGATTACCTGGTCTTAGGGAAATTTAAGGAAGGATT CCTATAAATGAGATGACAGATGAAGCATAAATAGAAATATGTAATGAAGA AGCTTAACAGCTTCCTAAAATTCTTCCTTAATTTAGTTCAAGAAAAAGAA ACCAGAGGTATTCATGCAAAATTTTTAAATGCTGTGGTATTACATCCTTA GCTGGTACTAACACATCTGAAGTCATCTGTGGTATAAGAGTCAAGAAACA TCACTTTGCAAATGTTCTGACTATGGTCAGCACAGATAAAGTGAATTTAT TGCTGTGGTCAAACTGAAATTTTCCACTTCATTTTCTGAAGTTTGGTTGT TATTATTATGGAACTCAAAAACTCAGAGCCTCCTTTCACTTTCTAGCAGG TGATACTCAAAATGGGGTTGATATGTAAAAGAGCCTCTCTAAGACTAACA CTTCTGTGTCAGGAGTCTAATGTGATTATATGTGAATTATTTGGGGCAGT AGGAAGAATGGAGAGTAGAGAAGGAAAGAGAAATGAGTAGAATACCATAA GAGATCCCAACAATAAAGAGACTTCAGTTAAGAAGCCAAGCAAAAACTGA ATTTGCCAATATTCCTTGAGTCCAAAAACACAAAAATTGTTCTCATGACT TTAAGAAAAAATTAAGATAAGCAAATCAGCAGCAGCAAGCAAGCATCATG AGACAAGTCTTAGAATGAATATGCATCAATGAGATAAGTATGTCATCAAT GCATTGAAGTGCTTTTTTTTGGTAGAAAAGAAATAACTCTGTATTTGGTG GTAAAATGAGGTAAAGCAAGGTGTTGTCTCTGAGATCAGATAAATTTTAC AAGAAAATAGAGGTCCCTCTGTATTTTATTTTTCAAGGTATAATCTTTAC TATTAGATAAAACACATGACTAGTGGGAAGAAAAAAAGACACTGTAAATT TATCTATTTTATATAAATAACTTAGGGATACAAAGAACTGGCACTATAAG GAAGAGCACTAATAGATTCCTTGTCAGATATCAGGTAACATAGGCACATT AATATGATTCTGTAATTTAAAGGGTTCCAAGCAGCAATCTGAAAGTTAGA AAAAAAACTCTTTCGACTAGCACTTTTTCAAATAGAATTCTACTGTAATA CCTGAAAATGGCATGCTTGTTTCCAACTATTTCACAAGGTAAAAATGTAA CTTAAGCAAATATCAAGGAAGCTTAAAATAAAGTGAAACAACTTTCTATG TCTAAAAGACACAAATAAATGTTTTATAACTTCTTTAACTTAGCTTGACA TAGTTTTTGGAATTAAATTACCTATATAAAAATTTACTCATAAATGGTTT TAGATACACACTTTAAAAACCAGCAAGAACCTATCACACGAATCATTACT TTAAAACTAAATAATACCAAACTGGTATATATTTAGGTCTGCCAATCCTT CATCAAACGACGA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	220	0.0046	-1612	c.144 others(21): Show c.1440-28514_1440-26903del	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560598	GCCCTGAG others(1605): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTT GGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTC TTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGC ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGG CTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACAC GAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCC TGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGC CCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCT GCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTG TCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03209.hp1 NA18522.hp1 HG01884.hp2 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0002t0014 a0001c0001t0006 a0001c0002t0002 a0001c0002t0014	a0001c0001t0006g0128 a0001c0002t0002g0004 a0001c0002t0014g0005 a0001c0001t0006g0128 a0001c0002t0002g0004 a0001c0002t0014g0005	3	180	0.0167	-1612	c.637 others(19): Show c.637+11420_637+13031del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANKRD33B_chr5_10559070_10662816	10573197	GGTGGCTC others(1604): Show GGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGA TAACGAGGTCAGGAAATGGAGACCATCCTGGCTAACACGGTGAAACCCCG TCTTTACTAAAAATACAAAAAATTAGCTCGGTGTAGTGGCACACACCTGT AGTCCCAACTACTCGGGAAGCTGAGGCAGGAGAATCACTTAAACCTCGGA GGCGGGGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGC AACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAACCTCTTCCAA TTCTTTTATGGACATACATACTGTATTAGTCTGTTTTCATACTGCTGTAA AGAAATAAAGAACTGCCTGGGACTGGGTAATTTATAAGAAAAGAGGTTTA ATTGACTCACAGTTCCACATGGCTGGGGAGGCCCCAGGAAACTTACAATC ATGGCAAAAGGCAAAGGGGAAGCAAGGCATGTCTTACTACATGGCGGCAT GAGAGAGTGAGAGTGAGGGGGGAAGTGCCACATTAAAACCATCAGATCTT GTGAGAACTCACTATCATGAGAACAGCAAGGGGGAATCTGCCCCCATGAT CCAGTCACCTCCCACCAGGCCCCTCCTCTGACATGTGGGAATTACAATTT GAGATGCGATTTGTGTGGGGACACAGGGAAACCATATCACATACTTAATG ACATCAAGGACTCCTGACACCCTACTTTATCTTAAACTCTGACATCATCA GATCTACAAACAGGTAACACCATCATACCCCTCCACTCCCCATCACAAAT AAAAGGGGCCTCCTCTCAGTCATGCTCTTCACGTCTGTGTGGCTGCCATC AACCCCTTCCTTGCCCCGGGCTCTTTTACACACGCACAAACATGCGTGAG CAGGCGTGTACACACACACATACACACATATCATTCCACCGGCTGTGTAG AAGATATCCACCTTTTGTGAATGAAACATATTTTCTATTTTCTTTGTTCA CATATTTTAGTAACTTTTCTACATATTTCTTTCAATTAAAAGGATTTATG TATTCTTTTACATATGGAATTATCTTGACTTAATTTGGAGAAAAATTTCA CATGGTTATGATTTAGAATTATTAGCCCAGTAGGCTGTAAAGCCAAGCTC AAGAAAATTCAAAAAAATGGTGTCATAAACACCATGTTCTCTGAATTTGG TTAATTTTTTTTTTCTAGATCTAACACAATTCTAAATAACTCCTAGATAA AATGGGAAACCATAATGTAAATTGAGCTGAAAAGTAATAAAAATATTACA TATCAAAATTTGTGGGGAAAAGCAAAAGTGGTATCTTGAAGGAAAATTAC AGGTAGCATAAAACTAAAGGAAAGAAATAATCAAATGAAAAGCAGAAATT GATGAAATCATGAAGATTATAGATCCAGGACAAAAGCTGATTCTCTGAAA GTAATAATAAAATAGATATTTTTGACAGTAGCTGTCATCAAAAAGAGAAA TAGCACACATTTGAAAATACAGGATAACAGGTTATAGCACAGTTAAAACA AAGATTAAAAAGAGATCCTGTAAGAATGTCATCCTATTAAACTTTAAAAC TGGCCAGCTGCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0028 a0004c0019t0028	a0004c0019t0028g0011 a0004c0019t0028g0011	1	324	0.0031	-1611	c.366 others(18): Show c.366+8401_366+10011del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
DACT2_chr6_168301904_168324777	168316373	CCATGTGT others(1604): Show CCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGGCACGC AGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAGCA CCTCCCTTCCCATCACGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAG CTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGC ATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCG TGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACA CACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTG TGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTG GTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTA ACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGA TTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCC ATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAG AAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACC TCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAG GTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTC GGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGC TGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAA CAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCT GTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCA AACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACG TCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTG TCTGGTGCAAACACACAACAGCATCTCAGCAGCACCTCCCTTCCCATGTG TGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGCAAACACACAACAGCA TCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGT GTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTGTGGTGCAAACAC ACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGT GGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGG TGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAA CACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGAT TGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCA TGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGA AGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCT CCCTTCCCATCA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0265 a0002c0003t0006g0265	1	476	0.0021	-1611	c.246 others(17): Show c.246+1404_246+3014del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
PDS5A_chr4_39817863_39982911	39969582	CTTGAACC others(1604): Show CTTGAACCCAGGAAGCAGAGGTTGCAGTGAGCCGAGATCAGGCCATTGCA CTCCAGCCTGGGCAACAAGAGCAAAACTTGGTCTCAAAAAAAAGGAAAGT CCTTAGCTGCAATTTGAAATTTTTTCAAATTATCCTTTACTTTCAAAAAT AAAAATATTTCTCTAATTCAGTATTAATACAAAATATTCATTCATTCACT TAACAAGTATTTGTTCAGCACCCAATTATGTGCCAGGCATTAAGCTTGGC ACTGAGAGGAATGAAAAACAGACACGGTATCTGTATTAATAAGGTTTACA GAGAAGCTAAAGAGACAAACCAAATAAATGTATGGATAAATGTAATATGA AGGAGTTGAAGGGTATGTAATGTAGAATCTTTTTTTTTTTTTTTTGAGAC AGAGTCTCGCCCTGTTGCCCAGGCTGGAATGCAGTGATGTGATCTCGGCT CCAAGAAAAAGGGTTTCACTATGTTGGTCAGACTGGTCTCGAACTCTTGA CCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTGTAATGTAGAACCTTAAAGGCTTCCCTTAAG AAGTAACAAATGAATGACAAATGAACACATGGGCTATTTAATGTAAGGAA CCTGTCTAGACAGAAATAAACATGGCATGTTCAGGAAACCAACCGAAGAC CACTGTGGCCTGACATAACAAAAATAGGTAAAGTAATGCCCTGGAAACAG GAATGAAAAGCTCTAGTATAGGAAAACATATCTTAGCTCTTTCAAAGACA TACTCTAAGAATTATTGTCAACGAAGCTTCAAAGCTTCACAATAGTTTCT CTCAAATGCTTAAAAAAAAAAAAAAAGCTGTCCTTTTTCTCCCTACAAAA GACCAAACTCACTCTCATTCTCTTCACATTTCACTGTAATGTCTTCAACT ACATGATAAAAGTTACAACTTTTTAGTTCTACTTAGTTTAGATTCCTTAG AAGAAAGCAACTATATAACAACCAAAGTAAATATGGCGTTATTGCCCCTG CCCTCTGCCACTAAACTGCCCTGTGACTGATTTTGGTAAAGGTTACTTGA ATACTTTGGCCTAACTTTCATTATCTGTGAAGTAAGAGGAGGTTCCAGAA TTTCCTTTAAGATCCTTCTAATTCTAAGATTATGGTTCCACTGTAAAACC GCTTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAAGGTCTCACT CGGTCACCCAGGCTGGAGTGCAGTGGTAGGATCACGGTTCACTGCAGCCC TGACCTTCCTGGGCTTGAGTGATCCTCCCACCTCACCCTCCTGAGTAGCT ACGACCATATTTGCATTTTTTGTAGAGATAGGTTTTTGTCATGTTGCCCA GGCCTATCTCAAATTCCTGGGCTCAAGTGTTCCTCCCACCTTGACCTCCT GAAGTGCTGGGATTACACAGGCATGAGCCACCACACCCAGCCTTGTTCCA TTCTTGAAAACTGACGAGAACAGGACCAAACACCGCTGAATTCCTTTGTA ATTGCCTTTAAGATGTTTTTTGTTTTGTTTTGTTTGTTTGTTTTCGAGAC AGAGTCGCGCTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0110 a0001c0001t0007g0110	1	356	0.0028	-1611	c.138 others(17): Show c.138+5247_138+6857del	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar

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Search Results (Total: 2609 hits)