JoGo: Joint Open Genome and Omics Platform

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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CA10_chr17_51625320_52163714	51820574	TTTCCACT others(1165): Show TTTCCACTTATACCTGAAGACTACTTAATACCAAGCTACTTTAATAGGGC AGAAAAGCACAGAGCTTAGAGTCAGAAGACCTAAGTTTGACTCCCGATTC TGTTATCTATTGGCTGTGACCTTTGGCAATTGGCTCTAGATTCTTGAGCT TCAATTTTCTCATTTGTAAAATGGGCATACTAGTATCTACTCATTTAGAG CACGTCCCAGAATTAGTGTGAGGGTTATGTTAGATAATACATTGCATCTA ACTTGTACATCAGTTATTATTCTTACCACAAACTGGATGCAGAAGTGTTT CTTTTTGGTAGAATAACTGAGCAGTGATTTATTTTGGATAGCAAATCCAG TAGAAATCTTGAGGATTGTTACCCCAGGTGGAACTCCTTAGTAGAAGAGC TGTAGCTGATTAATTTCTTCAAAGATCCATGCTCCCTCCCTCCCTTAATT CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTTCC TTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTTCCTTCCTCCCT TCCCTCCCTCCCTCCCTCCCAATATTTATTGTGCAATGCCAGGTACTAGA TGCTAAGTGCTGGATATTCAGGTGCTAGATGCTGGGTAGATGAAACCAAA TGAAAAAGCTCCTTCCCTTCATGGGAGCCCACAGTTAAAAAGGAAATAGA GACAGGTGAATCCCTAACCACCTTGAAGTAGGCCAAGTGCCATGGACAGG TGGAAAGAGGGAAAGTCAATATTGAACGACCATCCACTAAACCTTGGAAT CATCACTGACTCCTCAGTTTCTCTTATATCTTGCAGTCCATCTATCTGCA AATCATGCCAGCTTTACTCTCAAATACATCATGAATCTGATCATTTGTCG TCTCCCCGCAGCTGCTCCCTTGGTCCAAATGATTACCAGCTCTCCCCAGA ACTAATTTGAATAGCCTCCTAATTGGCTTTCCTGCTTTTACATTCACTCC CATCCAGTCTAGTCTACATCCAGGGGTCAGGAAGAACTTGTAAAAACTGA AGTCAGAACATGTCACTCCTCTGCTCAGAGCTCCTCAGTGGCTTCTCATT TCACTCAGTGTAAAATCTGAAGTCCTCACAAGGTTCTGGATAATCTGGTC CTGGATACTCTCTGCTCTCTACC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0077 a0001c0001t0002g0078	2	156	0.0128	-1172	c.280 others(19): Show c.280-73928_280-72757del	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
DHRS12_chr13_51762993_51809163	51774680	TCTACAGT others(1165): Show TCTACAGTATTCTCCTACAGTATTCTACTACATGTATTCTCCTACAGTAC ATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTC CTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTC CTACATGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTAT TCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTA TTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTC TCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCT ACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCT CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATT CTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATT CTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTAT TCTACAGTATTCTCCTACAGTATTCTACTACATGTATTCTCCTACAGTAC ATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTC CTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTC CTACATGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTAT TCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTA TTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTC TCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCT ACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCT CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATT CTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATT CTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTAT TCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTAC ATGTATTCTCCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp2 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0076 a0001c0001t0004g0064 a0001c0001t0003g0076 a0001c0001t0004g0064	2	420	0.0048	-1172	c.363 others(16): Show c.363+1208_364-647del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
FBXL12_chr19_9805270_9824079	9819398	GGGGCTGG others(1165): Show GGGGCTGGGGCGCGGCTAGGGGGCGGGGCTAGAGACGAGGACCAAGTCCA GAAGGCGTGGCTGGGGTGGGGCGAGGATCAAGCCCGGAAGGCGCGGCTGG AGCGGGGCGAGGCCTAGGTGGGGCTGCAGACGAGAACCACGCCTTGGAGG CGTGGCTAGGGCGGGTAGAGGCTCGGACAACCGCTGGAAGGCGGGGCTGG GGCGGGGCGAGACCTTGGGGGCGGGGTTGACGACGAGGACCTAGCCGAGA GGTCGTGGTCTGGACGGAAACCAGGCTGCAGCAGGACCAGGCGCCAAGGG CGTGGCTGGGGAGCGATGGAGACGCTCGGAAGGTGGGGAGCGGGGGACGG AGACAGGGAGAAGACTACGCCATGAAGGCGTGGTTGAGGCGGGGCGAGGC CTGTGGGTCTGGCCCCGAGCGAATGGCTTGGTAGAGAGTCAGAGAACTCT ATTTTTTTACTTAATGATGCTTCTTGATGTCTATGCACAAGGATAAATTT GTATTACTGGAATATCGTGGCCAAAGGACCTGTTGAATTTTTCACTTTCA TTGATACTACAGATATTTTCTGAATTGGCAAGTCCACCAAGAAACTATAA AAATGTGTGTGTGCAATGGCTGCACACAGCAGCTTCCTTGGTAGTGTACG CAGCCTGTTGGTTGTATGGGTTGCTCTAAGGGACCTTGGAGACAGGCCTT TCCGATGGATGTTCATGTTTCTAACCTTGCACTACCACAATGTAGGCTCC AAACAGGCATGTGAGGTGCCTTTGGAAAGCCCCAGGGCACTGTGGCCAGG GTTGACATTGGCCAAGTTATCATGTCCATCCGCACCAAGCTGCAGAACAA GGAGCATGCGATTGAGGCCTTGCGCAGGGCCAAGTTCAAGTTTCCTGGCC GCCAGAAGATCTACATCTCAAAGAAGTGGGGCTTCACCAAGTTCAATGCT GATGAATTTGAAGACATGGTGGCTGAGAAGCGGCTCATCCCAGATGGCTG TGGGGTCAAGTACATCCCCAATCGTGGCCCTCTGGACAAGTGGCTGGCCC TGCACTCATGAGGGCTTCCAATGTGCTGCCCCCCCTATTAATACTCACCA ATAAATTCTACTTCCTGTCCAAAAAAAAAAATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02129.hp2 HG00438.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0001g0001 a0001c0001t0001g0082	2	338	0.0059	-1172	c.-17 others(10): Show c.-1757_-586del	FBXL12	ENSG00000127452.9	transcript	ENST00000247977.9	protein_coding		320		chr19	TogoVar
FRMPD4_chrX_12133473_12729523	12621984	AAGAAAGA others(1165): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAAGAAGGAAAG AAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGGAGAGGAGAGGAGAGGA GAGGTGAACTATAAAAAGAACCAAACAGAAATCCTGGAGCTAAAGAATAC AATGACAAAACTAAACATTTTAATAGCTTCAACAGCAGACTCAATTATGC AGAAGAATCAGCAAATGTGAAGACAGGCTATTTGAAATTACCCAGTTAGA GGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAAGGAAGCATACAGGTCC TATGAGATACCATCAATTGAATGAATATATGCATTATGGGAATATTAGAA GGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTAAAGAAATAATGGCTGA AACGTCCTAAATCTTGGAAGGGATATGGACATCCAGATTTATACAAATCA AAGGGTCTCAAGCAGAATCAATCCAAAGACTACTCTAAGACACATTATAA CCAAATTTTTAAAAGCCAAACACAGACATAGAATATTGCCCCTAAGAGAT ATCATTTGAGATATATAAATTACATGAAAAATAATACAAAATAATCACCT TAATGAAGCTCAGTGGGATACAAGAGAACACAGACCACCAAGAAAAACAA AAAGCAATACATAAACAAAATAAAAAGTTTAATAAAGAAATACAGGTCAG GCGTGGTGATTCACATTTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGG CAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGCCTGGGCAACATGGCAA AACCCCATCTCTACAAAAATTAGCCAGATGTGGTGGCCCGAATCTGTAGT CCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGACTTGAGCCCAGGAGGC AGAGGTTTCAGTGAGCCAAGATCACACCACTGCACTGTAGCCTGGGCAAC ATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAAAGAAAGGAAAAAGGAA AGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAGGGAAGGGAAGTGAAGG GAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGGAAGAAAGAAAGAAAGA GAGAGAGAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01261.hp1 HG02071.hp1 others(2): Show HG01099.hp1 HG01261.hp1 HG02071.hp1 HG03491.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0043 a0001c0001t0002g0096 a0001c0002t0001g0123 others(2): Show a0001c0001t0002g0043 a0001c0001t0002g0096 a0001c0002t0001g0123 a0001c0002t0001g0141 a0001c0002t0001g0151	5	174	0.0287	-1172	c.422 others(17): Show c.422+7138_422+8309del	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12622031	GAAGGAAG others(1165): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAAGAAGGA AAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGGAGAGGAGAGGAGA GGAGAGGTGAACTATAAAAAGAACCAAACAGAAATCCTGGAGCTAAAGAA TACAATGACAAAACTAAACATTTTAATAGCTTCAACAGCAGACTCAATTA TGCAGAAGAATCAGCAAATGTGAAGACAGGCTATTTGAAATTACCCAGTT AGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAAGGAAGCATACAGG TCCTATGAGATACCATCAATTGAATGAATATATGCATTATGGGAATATTA GAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTAAAGAAATAATGGC TGAAACGTCCTAAATCTTGGAAGGGATATGGACATCCAGATTTATACAAA TCAAAGGGTCTCAAGCAGAATCAATCCAAAGACTACTCTAAGACACATTA TAACCAAATTTTTAAAAGCCAAACACAGACATAGAATATTGCCCCTAAGA GATATCATTTGAGATATATAAATTACATGAAAAATAATACAAAATAATCA CCTTAATGAAGCTCAGTGGGATACAAGAGAACACAGACCACCAAGAAAAA CAAAAAGCAATACATAAACAAAATAAAAAGTTTAATAAAGAAATACAGGT CAGGCGTGGTGATTCACATTTGTAATTCCAGCACTTTGGGAGGCCAAGGC AGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGCCTGGGCAACATGG CAAAACCCCATCTCTACAAAAATTAGCCAGATGTGGTGGCCCGAATCTGT AGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGACTTGAGCCCAGGA GGCAGAGGTTTCAGTGAGCCAAGATCACACCACTGCACTGTAGCCTGGGC AACATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAAAGAAAGGAAAAAG GAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAGGGAAGGGAAGTGA AGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGGAAGAAAGAAAGAA AGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	174	0.0058	-1172	c.422 others(17): Show c.422+7181_422+8352del	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
SERPINF2_chr17_1737871_1760265	1740464	GACAGTGA others(1165): Show 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	HG00423.hp2 HG00544.hp1 HG01928.hp2 others(20): Show HG00423.hp2 HG00544.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp2 HG02135.hp2 HG02145.hp2 HG02976.hp2 HG03704.hp2 NA18612.hp2 NA18949.hp1 NA18960.hp1 NA18961.hp2 NA18969.hp1 NA18971.hp1 NA18983.hp2 NA18985.hp2 NA18993.hp1 NA19000.hp2 NA19063.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0010 a0003c0003t0001 a0003c0003t0004 a0003c0003t0010	a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0015 others(15): Show a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0015 a0003c0003t0001g0022 a0003c0003t0001g0046 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0118 a0003c0003t0001g0125 a0003c0003t0004g0007 a0003c0003t0004g0015 a0003c0003t0004g0113 a0003c0003t0004g0115 a0003c0003t0004g0119 a0003c0003t0004g0121 a0003c0003t0010g0126	23	445	0.0517	-1172	c.-24 others(11): Show c.-2448_-1277del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2406		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740464	GACAGTGA others(1165): Show 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	HG00140.hp1 HG00558.hp2 HG00609.hp2 others(28): Show HG00140.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG02040.hp1 HG02135.hp2 HG02976.hp2 HG03492.hp1 NA18612.hp2 NA18946.hp2 NA18949.hp2 NA18960.hp2 NA18961.hp2 NA18969.hp2 NA18971.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp2 NA19000.hp1 NA19005.hp2 NA19063.hp2 NA19083.hp1 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0022	a0001c0003 a0001c0017 a0002c0050 others(2): Show a0001c0003 a0001c0017 a0002c0050 a0004c0061 a0022c0058	a0001c0003t0001 a0001c0017t0001 a0002c0050t0001 others(2): Show a0001c0003t0001 a0001c0017t0001 a0002c0050t0001 a0004c0061t0001 a0022c0058t0001	a0001c0003t0001g0003 a0001c0003t0001g0029 a0001c0003t0001g0034 others(7): Show a0001c0003t0001g0003 a0001c0003t0001g0029 a0001c0003t0001g0034 a0001c0003t0001g0073 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0017t0001g0003 a0002c0050t0001g0049 a0004c0061t0001g0003 a0022c0058t0001g0093	31	431	0.0719	-1172	c.27 others(11): Show c.2780_*3951del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1880		chr17	TogoVar
GAL3ST2_chr2_241771822_241809287	241805198	TGCAGGCC others(1164): Show TGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	314	0.0032	-1171	c.10 others(11): Show c.1033_*2203del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		912		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805198	TGCAGGCC others(1164): Show TGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0153 a0001c0005t0001g0153	1	319	0.0031	-1171	c.-40 others(11): Show c.-4079_-2909del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3994		chr2	TogoVar
SPATA17_chr1_217626344_217876696	217654879	ATTTTTGT others(1164): Show ATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCGTGTTAGCCAGATGGT CTCAATCTCCTGACCTTGTGATATGCCCGCCTTGGCCTCCCAAAGTGCTG GGATTATAGGCGTGAGCCACCGCACCCAGCCCTACATAATCTTATTACAA TATTAAAATCAGGAAATTGACATCTGTACAAAACTATTTGCTAATGTATA GACACTATTCATATTTTACTGATTGTACCAGTAATGTCATTTATAGCAAA AAATCTTTTCCAGGGTACAAACTAGGATTTCACTTTGTAGTTAGTGTTTG TTGTGTCTGTTTAGTCACCTTTAATCTAGAATAATTTTTTAGTCTGTCTT CACTTTTCATAACCCTAATATTTTTGGAGAGTACAGACTAGTTATTTTTC AGATTATTTCTCAATTTTTGCTTGCTAGTGTTTCTTCAGTGTTGGATTCT GGTTATGCATTTTTAGCAGAAATACATCTCAATACATCATATTATGATGC ATATGTCATCAGTTTGTCCAATAAATGTTGTTAACTTTGATTAAAGTAGT GTCTCTCGGGTTTCTACACTGTCAACTTACTATTTGTCTCTCATGAGGGG ATATTTAAATGCTATGTATACATCTTCTTCCTCATTAAACTTTTGTATGC TAGGTTTAGCATCCAATTACGATTCTTACCAGAATCAATTATTACTATAG ATCTTCAACAGTGATTTTCTAATTCCATTGTTTCTCCTACATTTACTTAC CAGCATTTTGCTATAAGAGATTTTCCTCTCTTCCATTTATTTATTTATTC ATGTATTTATATGAGTATGAAGTAATGGATTCCTATTTTATTCAATGGGT GGGTTATGGTCAACTATTCTCACTAAATGGTTTGGTGCTCAAATAGTCCT TCGTTTTCTCACTAGGAGCTTCTTCAAACCAATTTTTGATAGAATCATAT TACTTAACCAGGACGACCAAGAAATTAAGACATTCTGTGGAGTAATGAGC ACCTTTAGTCCCATTATTTATAAGAATTGAGGTTGTATGTCAATGGTATG GACAAAGACAGTAGAGTATACTTATGCATATAAGACATTCCTGGGTTCAA GTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTCC CCCACCCCCCACGCCCGGCTAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0247 a0001c0004t0004g0247	1	252	0.0040	-1171	c.240 others(17): Show c.240+3731_240+4901del	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPC24_chr19_11140493_11160782	11158328	CAAAATTA others(1164): Show CAAAATTAGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGG AGGCTGAGGCAGGAGAATCGCTTGAACATGGGAGGCGGAGGTTGCGGTGA GCTGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAAAGGGAAACTCC GTCTCAAAAAAAAAAAAGAAAAAAAAAAGAAAGAAAGAAAGAGAAAGAAA GCAAGTCATAGAGCAGATATTTGCAAGTCTATGTTCATAGCACCCATTAT AGCGAAAGGGTGGAAACAGCACAAGTGTCCTTAGATAGAAGAATTAATAA AACGTGGTTCATCTCTACAACACAATTGTTTTTTTTTGGTTCATCTGTAC AACGCAATTTTTTTTTTTTTGAGCCACCATGCCCGGACACAATTTTTTTT TCTTTTTCCTTTTTTTTTTTATGAGACAGGATCTCTCTGCCAGGCTGGAG TGCAGAGACGCAATCATGGCTCACTCAACCTCCTGGGCTCAAGCAATCCT CCAACTTTAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACTACAC CCAGCTAATTATTTTTTTTTTCCTAGAGACAGGGGTCTCATTGTATTGCC TAGGCTGGTCTCCAACTCCTGGGCTCAAATGATCCTCTTGCCTCAGCCTC CCAAAATGCTGGCATTACAGGTATGAGTCACCGTGTCTACCATGTCTGGC CCATAGGACAGAAGATTATTCAGCCTTAAAAAGGAAGGAGGCCAGGTGCG GTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCCAAGGCGGGCGGAT CACGAGGTCAAGAGATTGAGACCATCCCGGCCAACATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCTGGGCCTGGTGGCACGTGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGG TGGAAGGTGCAATGAGTCGAGATCGCACCGCTGCACTCCAGCCTGGTGAC AGAGTGATACTCTGTCTCAAAAAAAAAAAAGGAAGGAAATGCTGACCAGG TCCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGTAGGCTGAGGCAGGC AGATCGCCTGAGGTCAGGAGTTCAAGAACAGCCTGGCCAACATGGCAAAA CCCCGTCTCTACTAAAAATACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0171 a0002c0002t0171	a0002c0002t0171g0190 a0002c0002t0171g0190	1	438	0.0023	-1171	c.-37 others(11): Show c.-3723_-2553del	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding		2547		chr19	TogoVar
TMEM70_chr8_73971195_73987783	73986612	GCTGGACT others(1164): Show GCTGGACTGTGGCATGAGGAACCCCCACTTCCAAGATGGCTCACTTACAT GACTGACAGTGTGGTACAAGCTCTTTGGCAGGAGGTCTCTGCTTCTCACC ATATGGATCTCTCTTTAGCACTGCTTGCTTCTCCCAGAGTAAGTGATCCA AGAGAGCAAGGTTATACAATGTGTTGTGTGACCTACATGATATTTGCACA CTGTCATTGCACAATACTTTATTGGTTACACAGTCAGCCTTATTTGATGT TGGAGGGGATTCACAAGGACATGTACACCAGGAGGTAAGGCTCACTGGGA GCTATTTGGAGGCCAGTCACCATAGTGTTCTCCCATTAAGAGGTACGTAA TATTGTTTTGTCTCTTTGTGATGGTAGCAACCATTGATGCTCAATGCCTA AGTCCACCAATTCATTCGATGTTGAAAAATGGTTATATTCTATTATTCCC TTTTCACTTATTAACTGAAATACTTCTAAAAATAGAGCTAAAAGCACAAG AAGGCAAGAGAAATTTGCCCGTCTCTGCTATTTGGTAACCGAGCAGTTCA GTTTGTATAGAAAAGTCAGTATAAATGCTTGATTCTGTCCTTTTATTTGC CAGTTTTAAAAATAGATTTGGTTTCCTAGCATCATCTATTGATAAGTAGA CTTAAAAAATACGTTATGAGGCGGGGCGCGGTGGTTCACGCCTGTAATCC CACCCCTTTGGGAGGCTGAGGGGAGGATTGCTTAAGGCCAGAAGTTCGCG ACTGGCCCTGGCAACACAGTGAAACCCTGTCTCTAAGAAAAAACTAAAAA AATTAGCTGGGTATAGGGGTATATGCCTGTAGTCCCAGCTACTTGGAGGC TCAGGAGGGAGGATTGCTTGAGCTTAGGAGTTTAAGGTTGCAGTGAGCTG TGATCATGCCACTGCCCTCCAGCCTGGGTGAAAGAGGTAGATCCTGTCTC ACAAAACGATAAATACATATAATGTTATGAGCTTATGGATTTAAATATAT TAAAGTATTTCAACTTATTGCAGTTACTATCTTATTAATGTTCACATAGT TATGGAGATAGGCTAAATAATGGCAAAAAATGTTCACCTTCTAATCACTG GAAGCTGTGAATATTACCTTACATGGCAAAAGGAATTTTGCAGATGTGAT TAAATTGAGGATTTTAACTCGG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02896.hp2 HG02897.hp1 HG02615.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0011	3	402	0.0075	-1171	c.49 others(11): Show c.4992_*6162del	TMEM70	ENSG00000175606.11	transcript	ENST00000312184.6	protein_coding		3830		chr8	TogoVar
C1orf159_chr1_1076823_1121089	1077283	TCTATGGG others(1163): Show TCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCTGTGCCG GGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGA CTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAG TCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGA CTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAG TCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGA CTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAG GCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGCGTCTATGGGGA CTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAG GCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGA CTCCGTGGGGGGAGGCTGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	326	0.0031	-1170	c.44 others(11): Show c.4440_*5609del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4539		chr1	TogoVar
CROCC2_chr2_240901336_240998311	240977411	TCTCTGGG others(1163): Show TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGG CTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCAT CCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTG CTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAG TCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTG CTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCACCCCTCCTCAG TCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTACGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAGG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp1 HG01981.hp2 others(7): Show HG00609.hp1 HG00738.hp1 HG01981.hp2 HG02129.hp1 HG04199.hp2 NA18951.hp2 NA18971.hp2 NA18998.hp2 NA19056.hp1 NA19087.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0067 a0007c0006 a0001c0001 a0001c0067 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0067t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0067t0002 a0007c0006t0001	a0001c0001t0001g0156 a0001c0001t0002g0247 a0001c0001t0002g0273 others(7): Show a0001c0001t0001g0156 a0001c0001t0002g0247 a0001c0001t0002g0273 a0001c0001t0002g0280 a0001c0001t0002g0288 a0001c0067t0002g0287 a0007c0006t0001g0085 a0007c0006t0001g0086 a0007c0006t0001g0088 a0007c0006t0001g0099	10	350	0.0286	-1170	c.440 others(19): Show c.4402-5380_4402-4211del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DACT2_chr6_168301904_168324777	168316334	GTGCAAAC others(1163): Show GTGCAAACACACAACAGCATCTCAGCAGCACCTCCCTTCCCATGTGTGTA ACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGGCACGCAGAAGCTGCGA TTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAGCACCTCCCTTCCC ATCACGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACG CAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGC ACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCT GAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCAT CTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTG TGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACA CAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTG GCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGT GCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAAC ACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATT GTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCAT GTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAA GCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTC CCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGT CACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGG CAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTG AGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACA GCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGT CGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAA CACACAACAGCATCTCAGCAGCACCTCCCTTCCCATGTGTGTAACACGTC TGTGGCTGTCGTGTGCTGAGC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG01069.hp2 others(32): Show HG00408.hp1 HG00408.hp2 HG01069.hp2 HG01071.hp2 HG01433.hp2 HG02129.hp1 HG02280.hp1 HG02293.hp2 HG02572.hp2 HG02630.hp1 HG02735.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18948.hp1 NA18952.hp2 NA18962.hp2 NA18982.hp1 NA18990.hp2 NA18995.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19055.hp2 NA19075.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0009	a0001c0001 a0002c0002 a0002c0005 others(4): Show a0001c0001 a0002c0002 a0002c0005 a0003c0004 a0006c0008 a0008c0013 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 a0002c0002t0007 a0002c0005t0006 a0003c0004t0008 a0006c0008t0006 a0008c0013t0004 a0009c0014t0004	a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0213 others(19): Show a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0213 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0273 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0002g0019 a0001c0001t0002g0096 a0001c0001t0002g0181 a0002c0002t0005g0014 a0002c0002t0005g0204 a0002c0002t0005g0229 a0002c0002t0005g0294 a0002c0002t0007g0087 a0002c0005t0006g0030 a0003c0004t0008g0049 a0006c0008t0006g0295 a0008c0013t0004g0020 a0009c0014t0004g0092	35	476	0.0735	-1170	c.246 others(17): Show c.246+1884_246+3053del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DACT2_chr6_168301904_168324777	168316357	AGCAGCAC others(1163): Show AGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGC TGAGCTGAGGGCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAA CAGCATCTCAGCAGCACCTCCCTTCCCATCACGTGTGTAACACGTCTGTG GCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGT GCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAAC ACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATT GTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCAT GTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAA GCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTC CCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGT CACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGG CAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTG AGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACA GCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGT CGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAA CACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTC TGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTC TGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTG TAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGC GATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTC CCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGC AGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAGCA CCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTG CAAACACACAACAGCATCTCG	A A	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	476	0.0021	-1170	c.246 others(17): Show c.246+1861_246+3030del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
RAPGEF6_chr5_131418921_131640229	131595606	GCACCACA others(1163): Show GCACCACAGTGAGCCACAAAACCACAGAGATGAACAAGAGAGAAAGAAGG CTACAGAAAAAAAAATCTATAAAACAACCAGAAAACCATTAACACAAAGG CAGGAATAAATCCTTACCTATAAATAACAGCCTTGAATGTAACTGGGTAA GCTCCTCCAATTAATAGATATAGAATGGCTGAATGGATAATAAAACCCAA ATGTATGCTGCGTATAACAGACTCACCTCACTGTTAAAGACATAGATTGA AAGTTAAGGGACAGAGGTTGGGTGCAGTGGCTTATGCCTGTAATCCTAGC ACTTTGGGAGGCTGAGACAGGCAGATCACTTGAGGTCAGGAGTTCAAGAC CAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAAATACAAAAAT TAGCTGGGTGTGGTGGTACGCGCCTGTAATACCAGCTACTTGGGAGGCTG AAGCACAAGAATCGCTTGAACACAGGAGGCAGAGGGTGCAGTGAGCCAAG GTCGCACCACTGTGCTCCACCCTGGGGAGCAGTGCGAGACTCCATCATAT AAAAAAAAAAAAAAAAGTTAAAGGATAGAAAAAGACATCCATGCAAATGG AAAGCCAAAGCAAACAGGAGTAGCCATGCTTACTTTAAGTCAAAAACTGT AAAAAGAGACAGAAAAGGTGATTATATAATGATAAAGGGATCAATTCAAC AGGAAGATATAACAATTACATTATTTATAATATATATTATATAATCATTA TATAATATATATTTGTGTCTCATATATATATTTACAGTATATATTAACAC ACACACCCCAAACACTGGAGTGCCCAAGCTTGTAAAGCAAATATCATTAG ATATAAAGGGAGAGACAGACTATAATAGAGTAATAGCAGGGAATGCAAAT ACCCTACTTTCAGCAATGGACAGATCGATAGACCTCAAAATATACTACAA AGCTACTGCAACCAAAAAAGCATGGTACTGACATAAAAACAGACCAATAG AGCAGAATGGATATCCCAGAATTAAACAGACAACTGATTTTCAAAAAAGG TGCCAAAGACACTTAGAAAATGTATATCTCCTTGCAGAAGAATAAGACTA AACTCCTACCTCTCACTATATACAAAAATCAACTCAAAATGGATTAAAGA CTTAAATGTGAAACCTGAAAC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0171 a0001c0001t0019g0171	1	324	0.0031	-1170	c.198 others(17): Show c.198-4310_198-3141del	RAPGEF6	ENSG00000158987.22	transcript	ENST00000509018.6	protein_coding	3/27			chr5	TogoVar
RNF223_chr1_1065967_1079306	1077283	TCTATGGG others(1163): Show TCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCTGTGCCG GGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGA CTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAG TCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGA CTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAG TCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGA CTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAG GCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGCGTCTATGGGGA CTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAG GCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGA CTCCGTGGGGGGAGGCTGAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	-1170	c.-44 others(11): Show c.-4447_-3278del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2978		chr1	TogoVar
CNKSR3_chr6_154382515_154515685	154504638	AAATTCTC others(1162): Show AAATTCTCTCTCTGCTTCAGTTTCTTTAATATGGGCTGGAAATTATTCAA ACACCTCACTGGGTTTTCTAAGGATGAAATCAAAGAGGCTGGACAGGTGC AATGTCTCACATTTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGAGGA TCACTTGAGCTCAGGACAAGATCAGCCTGGGCAACAGAGTGAGACCCCAT CTCTGTATTAAAAAATAATAAGTAAAGAAGTTTTATAATGAGAGAGCCTA AATAAACACTTAGAACAGCGTCTGCCAAGATAATAAGTGCATCAATCAAT GTTTTTCTGTTATTAAGAGAATTTTATCACTGGAGTGCAGGAGAGTGAAT GGAACCAAGGAGAGGGTGGAATGAAGAGCTTTTCTGAACTATGGCCAAAT GGTAGACCTACGGCTGCTAAAACAAAAAGGCCTCCCTTTCCCAGGGACCA CAGAGACTAAAAGAGAAGGTATAACCTAAACTGGAATCAAGGTAACAGAA AGAACTGCCTCTGTCTGGACGGTGGCAGGAAGGGCCTAACAGTGCAAGGT AGTACATTGCAGTTGACCTGTGATGTATCAGATCTCTGTAGTTAACTTGG AAATTCCAGACTTTCCATGGCCAAATAGTCAAGCACCTTAAGACTGCTAT GTGTCATAAACAAATAGACACGACAGGGAAAGAGCAAGTCCCGTGGCTTA GACCTTGAGCAAGAAAGCCCCCTTTTCTCTTGGTTGGTGATGGGGACTGC TACCAACACTAGCAGCACCAGAAGCTGGCCAGAGAGACTTCTGTCCTGGG ACCAAAGGTGGGTTTTAGAGATGTGCTGACTCAACTACACAATTTTATTA TTATTATTATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCG CCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAGCCTCCGCCT CCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCACCACCACACCCGGCTAATTTTTTTTGTATTTTTTAGTAGA GATGGGGTTTCACCATGTTGGTCAGGATGGTCTCGATCTCCTGACCTTGT GATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCTGGCCAACTACAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp2 HG02027.hp2 others(12): Show HG00408.hp1 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02165.hp2 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18955.hp2 NA18970.hp2 NA18999.hp1 NA19010.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 others(10): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0093 a0001c0001t0105 a0001c0001t0185 a0001c0001t0186 a0001c0002t0113 a0001c0002t0121 a0001c0002t0137 a0001c0002t0177 a0001c0002t0188 a0001c0010t0003	a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0326 others(12): Show a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0007g0329 a0001c0001t0013g0321 a0001c0001t0093g0081 a0001c0001t0105g0327 a0001c0001t0185g0328 a0001c0001t0186g0080 a0001c0002t0113g0330 a0001c0002t0121g0322 a0001c0002t0137g0320 a0001c0002t0177g0331 a0001c0002t0188g0324 a0001c0010t0003g0319	15	342	0.0439	-1169	c.52+ others(15): Show c.52+4256_52+5424del	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	1/12			chr6	TogoVar
DACT2_chr6_168301904_168324777	168316898	GCATCTCG others(1162): Show GCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGT CGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAA CACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTC TGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTC TGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTG TAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGC GATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTC CCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGC AGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCA CCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTG AGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATC TCAGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGT GCTGAGCTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATG TGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAG CTGCGATTGTGTGTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCC CTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTC ACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGC AGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGA GCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAG CATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTC GTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAAC ACACAACAGCATCTCGGCAGCACCTCCCTTCCCATCACATGTGTGTAACA CGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTG TGTCTGGTGCAAACACACAA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0008 a0008	a0008c0035 a0008c0035	a0008c0035t0004 a0008c0035t0004	a0008c0035t0004g0080 a0008c0035t0004g0080	1	476	0.0021	-1169	c.246 others(17): Show c.246+1321_246+2489del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
MMP20_chr11_102571832_102630332	102578264	ATCCGGAG others(1162): Show ATCCGGAGTAGCTGGGACTACAGGTGTGTGCCATCATTCTCAGCTAACTT TTTTGTAGAGACAGAGTTTTGCCATATTGCCCAAGCTGGTATTGAATTCC TGGGCTGAAGTGATCCTACCACCTCATCCTCCCAAAGTGCTGGAATTACA GGTGTGTGTCACTGTGCCCAACCAAGACTATGTGTATTTTAAAGATAGAA AAGGTAATCTTGACCCCGGTAGACTTTATGATCTAGCTGACTAATCGATT GAAGCTATACTTTAAAAACTTTCCATTAGGTGGCCAACATGGTGAAACTC CATCTCCACTAAAAATACAAACATTAGCTGGGCCTGGTGGCCAGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGAATCGCTCGAATCTGGG AGGCAGAAGTTGCAGTGAGCAGAGATCGCGCCACTGCAGTCCAGCCTGGC CACAGAGCGAGACTCCGTCTCAAAAAAAACAAAAAACAAAAAACAAAAAA CAAAAACAAAAAACAAAACACACACACACAAAAACAAAAACAAACAAACA AACAAACAAAAACTTTCCATTAGGAAAGAGAGAACTAAAATACCAGAACT TTTACAGTTACTCTTTCTAGTGGACAATCTGTTTAGATAAACTTATGAAA GGACCTAAGACCAAATATAAAAACCAAGGACTCCCACTTGGAAATCCACT TTCTGTTGTGTTAAAGCAAAGCCAAGATTTCTTATGATAGTTTTCATGAA GAAAGTTTTCAGTGGAAACACTTACCATTTAATTCTACAGCAGCATCGAT TTGGCCATTTACTCCTGAAAATTCTTCTTCAGTATTCTTTGGATAGTCTT TTTCCATTTTCCTTTTCCTTTCGTCGTAGCTAGAAAAAGTATTATTTCAT AAATAATATTACTAAGAGGTTTTTACTGGTTGTAGATGACACTATACTGG TCAGGCATATGGACACATAACTTATTTAGGTGTTCCTCTCTCTCTCTGTT TCACATACACATACACATGCATTTATGTTGTTATTTATTTTTTCTTTGTT GTGTTTTTGTTTTTTTTTTGAGATGGGGTCTCACTGTTGCCCAGGCTGAA GTGTAGTGGTGCCATCATGGCTCACCACTGCCTTGACCTTCCAGGCTCAA GCGATCCTCCTGTCTCAGCC	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18969.hp1 NA18969.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0201 a0014c0016t0001g0201	1	446	0.0022	-1169	c.124 others(17): Show c.1248-291_1351+774del	MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding	9/10			chr11	TogoVar
FRMPD4_chrX_12133473_12729523	12621988	AAGAAAGA others(1161): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAAGAAGGAAAGAAGA AGAAAAGAGGAGAAGAGAGGAGAGGAAAGGAGAGGAGAGGAGAGGAGAGG TGAACTATAAAAAGAACCAAACAGAAATCCTGGAGCTAAAGAATACAATG ACAAAACTAAACATTTTAATAGCTTCAACAGCAGACTCAATTATGCAGAA GAATCAGCAAATGTGAAGACAGGCTATTTGAAATTACCCAGTTAGAGGAA CAGAAAGTAAAAAGAATAAAAAAGAGTAAAGGAAGCATACAGGTCCTATG AGATACCATCAATTGAATGAATATATGCATTATGGGAATATTAGAAGGAG AAAAGGAAAAAAGGGGAAAAAGCTTATTTAAAGAAATAATGGCTGAAACG TCCTAAATCTTGGAAGGGATATGGACATCCAGATTTATACAAATCAAAGG GTCTCAAGCAGAATCAATCCAAAGACTACTCTAAGACACATTATAACCAA ATTTTTAAAAGCCAAACACAGACATAGAATATTGCCCCTAAGAGATATCA TTTGAGATATATAAATTACATGAAAAATAATACAAAATAATCACCTTAAT GAAGCTCAGTGGGATACAAGAGAACACAGACCACCAAGAAAAACAAAAAG CAATACATAAACAAAATAAAAAGTTTAATAAAGAAATACAGGTCAGGCGT GGTGATTCACATTTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAGA TGGCTTTGAGCCCAAAAGTTCAAGACTAGCCTGGGCAACATGGCAAAACC CCATCTCTACAAAAATTAGCCAGATGTGGTGGCCCGAATCTGTAGTCCCA GCAACTTGGGAGGCTGAGGTGGGAGGATGACTTGAGCCCAGGAGGCAGAG GTTTCAGTGAGCCAAGATCACACCACTGCACTGTAGCCTGGGCAACATAG CCAGACCCTGTTTCAAAAAAAGAAAAGAAAAGAAAGGAAAAAGGAAAGGA AGTAATAAGGAAAGGAAAAAGGAAAGGAAGGGAAGGGAAGTGAAGGGAAG GGAAGTGAAGGGAAGGGAAAGGAAGGGAGGAAGAAAGAAAGAAAGAGAGA GAGAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02486.hp1 HG03139.hp1 others(3): Show HG00140.hp1 HG02486.hp1 HG03139.hp1 HG03492.hp1 HG03579.hp1 NA18977.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005	a0001c0001t0002 a0001c0002t0001 a0002c0003t0003 others(2): Show a0001c0001t0002 a0001c0002t0001 a0002c0003t0003 a0002c0005t0001 a0002c0005t0004	a0001c0001t0002g0053 a0001c0001t0002g0097 a0001c0002t0001g0160 others(3): Show a0001c0001t0002g0053 a0001c0001t0002g0097 a0001c0002t0001g0160 a0002c0003t0003g0003 a0002c0005t0001g0078 a0002c0005t0004g0001	6	174	0.0345	-1168	c.422 others(17): Show c.422+7138_422+8305del	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12622035	GAAGGAAG others(1161): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAAGAAGGAAAGA AGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGGAGAGGAGAGGAGAGGAG AGGTGAACTATAAAAAGAACCAAACAGAAATCCTGGAGCTAAAGAATACA ATGACAAAACTAAACATTTTAATAGCTTCAACAGCAGACTCAATTATGCA GAAGAATCAGCAAATGTGAAGACAGGCTATTTGAAATTACCCAGTTAGAG GAACAGAAAGTAAAAAGAATAAAAAAGAGTAAAGGAAGCATACAGGTCCT ATGAGATACCATCAATTGAATGAATATATGCATTATGGGAATATTAGAAG GAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTAAAGAAATAATGGCTGAA ACGTCCTAAATCTTGGAAGGGATATGGACATCCAGATTTATACAAATCAA AGGGTCTCAAGCAGAATCAATCCAAAGACTACTCTAAGACACATTATAAC CAAATTTTTAAAAGCCAAACACAGACATAGAATATTGCCCCTAAGAGATA TCATTTGAGATATATAAATTACATGAAAAATAATACAAAATAATCACCTT AATGAAGCTCAGTGGGATACAAGAGAACACAGACCACCAAGAAAAACAAA AAGCAATACATAAACAAAATAAAAAGTTTAATAAAGAAATACAGGTCAGG CGTGGTGATTCACATTTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGC AGATGGCTTTGAGCCCAAAAGTTCAAGACTAGCCTGGGCAACATGGCAAA ACCCCATCTCTACAAAAATTAGCCAGATGTGGTGGCCCGAATCTGTAGTC CCAGCAACTTGGGAGGCTGAGGTGGGAGGATGACTTGAGCCCAGGAGGCA GAGGTTTCAGTGAGCCAAGATCACACCACTGCACTGTAGCCTGGGCAACA TAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAAAGAAAGGAAAAAGGAAA GGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAGGGAAGGGAAGTGAAGGG AAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGGAAGAAAGAAAGAAAGAG AGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0062 a0002c0003t0003g0062	1	174	0.0058	-1168	c.422 others(17): Show c.422+7181_422+8348del	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
OR5B3_chr11_58397464_58411874	58399508	TAGGTACT others(1161): Show TAGGTACTAAAGATTTTATTTTATTTTATTTTTTATTTATTTATTTTTTT TTTTAATTGAAATTGAATTTATTGGAAGCAGATACAGTTCTCTGGGGAGA AAAATAATCTTAAAAATGACAAATATTTGAACTAGCAAAATGCATCTTAT AGCAATACCTTAAAAACTATAATATTAAAAACTGTTTGGCAGAGAACTAA TTATTTTTCAGTCATACATGTAAATTAAAGTCCCACTTGGTTTTGCCTAA GGTAAGTCACGCTTAACTGAGTACTGGCTGTTTGGCTTTGTGCTCATGTG GCCCCAGGCCCTGAAGGGCTTTGCATATTATTGGGGCTCTGTAGGTGAAT CAGTTATGGCCTTTGTCTCAAGTCCAAGTGGGAATCACCAGAATGTCTTA ACTTTTGGCACAAAAGAGGCTTCAGTTTATACAGACTATCAGTTTGTACC CCGACTATTCACAGGATCCAGCAAGAATAGGATAGAGAAAGGTGCCTTAT ATGTGGCTGAAGACTTATTTTTCTGTATTCCTTGACCTTCCTTTTTCCCC CTTTCTGTAAGCAGGGGAAAAACATTTGCTGTAGCACCAGACATACAACT CAGTCCCCTTTCATCCTGCTATGTAGGTATAGGTACATCTTTCTCATTAA CTCTCCTACTTCCCTTGTCATACAAAGAGATGTTTTTCTTCCTGGGAAGT AGCAGGGTAGTTTTTTGGGATATTTTAGCTCTGAGATGAACAGCTTCTTT CTGAGATCTTGTCAAAGATAATCTCCAGGGAAGCACGCAGTTTTGTACAC CACTATTGTTATTTCTCTTCTCCCAGGGTTTTGTTTACAAAGGAATTTTG TGTAATTATGATTTCCCATAGACTTTTCTGATAGTTTATGATACATGGAG ACATAAGCAATTGAATGGGGGTGGGGAGGGATTCAATTAAAAACTAAAAG GACAGTCCAAGAATAATGCTGAGGGCCATGGGCAAAAAAGATTTGGCTCT AGAATTCACTAAGTTTCAAAGGTAAAAGAAGCATGAGAACGTGCCACTAT TCATCACCTTCACTTTAACCCAGCATCTCTTATTAAACCATAACATAGCC TCAAGATTTCTTGAAAGCTCACTTCTTTTTCTGATACAATGCACTGTCAG CGACCATAAACTATCAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp1 others(119): Show HG00099.hp1 HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01167.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18987.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp2 NA19058.hp2 NA19059.hp2 NA19060.hp1 NA19063.hp1 NA19070.hp2 NA19076.hp2 NA19077.hp2 NA19089.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0007 others(1): Show a0002 a0004 a0007 a0008	a0002c0002 a0002c0005 a0002c0011 others(3): Show a0002c0002 a0002c0005 a0002c0011 a0004c0004 a0007c0010 a0008c0009	a0002c0002t0001 a0002c0005t0001 a0002c0011t0001 others(3): Show a0002c0002t0001 a0002c0005t0001 a0002c0011t0001 a0004c0004t0001 a0007c0010t0001 a0008c0009t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(29): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0005t0001g0012 a0002c0005t0001g0040 a0002c0005t0001g0041 a0002c0005t0001g0042 a0002c0005t0001g0043 a0002c0011t0001g0031 a0004c0004t0001g0013 a0004c0004t0001g0015 a0004c0004t0001g0016 a0004c0004t0001g0021 a0007c0010t0001g0049 a0008c0009t0001g0033	122	386	0.3161	-1168	c.17 others(11): Show c.1789_*2956del	OR5B3	ENSG00000172769.4	transcript	ENST00000641865.1	protein_coding		2955		chr11	TogoVar
PDE3B_chr11_14638804_14877044	14740965	ACTGTTTG others(1161): Show ACTGTTTGTTATGATTTCCATTCTTATTCATTTTCTGCAGAGTGTTTTAC TTCCAATTATATGGTCAATTTTAGAATAAATGCGATGTGGTGCTGAGAAG AATGTATATTCCGTTGATTTGGGGTGGGGAGTTCTGTAGATGTGTATTAG GTCTGCTTGGTCCAGAGCTGAGTTCAAGTCTTGAATTTCCTTGTTGATTT TCTATCGTATTGATCTGTCTAATATTGTCAGTGGGGTGTTACAGTCTCCC ACTATTACTGTGTCGGAGTCTAAGTCTCTTTGTAGGCCTCTAAGACTTGG TATTATGAATCTGGGTGCTCGTGTATTGGCTGCATATATATTTAGGATAG TTAGCTCTTTTTGTTGCATTGATCTGTTTACCATTATGTAATGCCCTTCT TTGTGTCTTTTGAGCTTTGTTGGTTTAAAGTCCGTTTTATCAGAGACTAG GATTGCATTTTTTTTGCTTTCCATTTGCTTGGTAAATATTCTGCTATCTT TTTTTGAGCCTATGTGTTTTTGCATATGAGATGGGTCTCCTGAATACAGC ACATCAATGGGTCTTGACTCTTTATTCAATTTGCCAGTCCATGTCTTTTA CTTGGGGCATTTAGCCCATTTACATTTAAGGTTAATATTGTTAAGTGTGA ATTTGATCCTGTCATTATGATGCTAGCTGGTTGTTTTGCCTGTTAGTTGA TGCAGTTTCTTCATAGTGTCGATGGTCTTTACAATTTGGTATGTTTTTGC AGTGGCTGGTACTGGTTGTTCCTTTCCATGTTTAGTGCTTCCTTTAGGAG CTCTTGTAAGGCAGGCCTGGTGATGACAAAATCTCTCAGCATTTGCTTGT CTGTAAAGGATTTTATTTTTCCTTTGTTTATCAAGCTTTAGTTTGACTGG ATATGAAATTCTGAGTTGAAAATTCTTTTCTTTAAGAATGTTGAATATTG GCCCCTACTTTCTTCTGGCTTGTAGAGTTTCTGCCGAGAGATCCGCTGTT AGTCTGATGGGCTTCCCTTTGTGAGTAACCCAACCTTTCTCTCTGGCTGC CTTATCATTTTTTCCTTCATTTCAGCCTTGGTGAATCTGACAATTATGTG TCTTGGGGTTGTGCTTCTTGAGGAGTATCTTTGTGGTGTTCTCTGTATTT CCTGAATTTGAATGTTGGC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03225.hp1 HG03486.hp2 HG02647.hp2 HG03225.hp1 HG03486.hp2	a0001 a0007 a0001 a0007	a0001c0004 a0007c0009 a0001c0004 a0007c0009	a0001c0004t0005 a0007c0009t0005 a0001c0004t0005 a0007c0009t0005	a0001c0004t0005g0330 a0001c0004t0005g0331 a0007c0009t0005g0329 a0001c0004t0005g0330 a0001c0004t0005g0331 a0007c0009t0005g0329	3	332	0.0090	-1168	c.979 others(19): Show c.979-30968_979-29801del	PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
DACT2_chr6_168301904_168324777	168316376	TGTGTGTA others(1160): Show TGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGGCACGCAGA AGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAGCACCT CCCTTCCCATCACGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTG AGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATC TCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGT GCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACAC AACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGG CTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTG CAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACA CGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTG TGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATG TGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAG CTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCC CTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTC ACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGC AGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGA GCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAG CATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTC GTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAAC ACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCT GTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCT GGTGCAAACACACAACAGCATCTCAGCAGCACCTCCCTTCCCATGTGTGT AACACGTCTGTGGCTGTCGTGTGCTGAGCTGCAAACACACAACAGCATCT CGGCAGCACCTCCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18953.hp1 NA18970.hp1 others(2): Show HG00738.hp1 NA18953.hp1 NA18970.hp1 NA18993.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0005 a0002c0003t0006 a0001c0001t0001 a0002c0002t0005 a0002c0003t0006	a0001c0001t0001g0315 a0002c0002t0005g0067 a0002c0002t0005g0299 others(1): Show a0001c0001t0001g0315 a0002c0002t0005g0067 a0002c0002t0005g0299 a0002c0003t0006g0314	5	476	0.0105	-1167	c.246 others(17): Show c.246+1845_246+3011del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
ERC1_chr12_986223_1500931	1087842	TATTATTA others(1160): Show TATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGC CTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGA TTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTGTTGTTGTTG TTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTA TTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATG CCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACA GGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAA AGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATT ATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGG CCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAA TATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGC TGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGT TGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGT TATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGC CTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGA TTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTG TTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTA TTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATG CCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACA GGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAA AGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATT ATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGG CCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAA TATGCCTATGCCTGGCCC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0086 a0001c0001t0008g0086	1	162	0.0062	-1167	c.108 others(19): Show c.1086+4275_1086+5441del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1087855	GTTGTTGT others(1160): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC GTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTGTTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGT GCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC GTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0099 a0002c0002t0099	a0002c0002t0099g0131 a0002c0002t0099g0131	1	162	0.0062	-1167	c.108 others(19): Show c.1086+4285_1086+5451del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRMPD4_chrX_12133473_12729523	12622002	GAAAGAAA others(1160): Show GAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAAGGAAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAA GAGAGGAGAGGAAAGGAGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAG AACCAAACAGAAATCCTGGAGCTAAAGAATACAATGACAAAACTAAACAT TTTAATAGCTTCAACAGCAGACTCAATTATGCAGAAGAATCAGCAAATGT GAAGACAGGCTATTTGAAATTACCCAGTTAGAGGAACAGAAAGTAAAAAG AATAAAAAAGAGTAAAGGAAGCATACAGGTCCTATGAGATACCATCAATT GAATGAATATATGCATTATGGGAATATTAGAAGGAGAAAAGGAAAAAAGG GGAAAAAGCTTATTTAAAGAAATAATGGCTGAAACGTCCTAAATCTTGGA AGGGATATGGACATCCAGATTTATACAAATCAAAGGGTCTCAAGCAGAAT CAATCCAAAGACTACTCTAAGACACATTATAACCAAATTTTTAAAAGCCA AACACAGACATAGAATATTGCCCCTAAGAGATATCATTTGAGATATATAA ATTACATGAAAAATAATACAAAATAATCACCTTAATGAAGCTCAGTGGGA TACAAGAGAACACAGACCACCAAGAAAAACAAAAAGCAATACATAAACAA AATAAAAAGTTTAATAAAGAAATACAGGTCAGGCGTGGTGATTCACATTT GTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCA AAAGTTCAAGACTAGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAA ATTAGCCAGATGTGGTGGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGC TGAGGTGGGAGGATGACTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCA AGATCACACCACTGCACTGTAGCCTGGGCAACATAGCCAGACCCTGTTTC AAAAAAAGAAAAGAAAAGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAG GAAAAAGGAAAGGAAGGGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAA GGGAAAGGAAGGGAGGAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAA GAAAGAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	174	0.0058	-1167	c.422 others(17): Show c.422+7122_422+8288del	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16			chrX	TogoVar
IL3RA_chrX_1331785_1387689	1370885	CCTCCAGC others(1160): Show CCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCC GCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATC TCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTG TGAGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCA GGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGG GCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTA TTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACG AGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAG ACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCC CACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATG TGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTG AGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACA GAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCA GGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGAA CTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCG CCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCT CATAAGAAGAGGACATGAGGACACAGACACACACAGAGGGACGACCCTGT GGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGG AGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGC TGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATT CTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGAT GAGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAG ACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCC CACACCTGGATCTCAGAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00558.hp2 others(41): Show HG00099.hp2 HG00280.hp1 HG00558.hp2 HG01070.hp2 HG01074.hp1 HG01123.hp2 HG01167.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01952.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02148.hp2 HG02300.hp2 HG02622.hp1 HG02738.hp2 HG03017.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18612.hp2 NA18940.hp2 NA18948.hp1 NA18951.hp2 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18970.hp2 NA18985.hp1 NA19004.hp1 NA19009.hp1 NA19055.hp1 NA19063.hp1 NA19066.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp1 NA19086.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0010 a0012	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0015 a0002c0019 a0003c0005 a0010c0013 a0012c0007	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0005 a0002c0015t0005 a0002c0019t0005 a0003c0005t0002 a0010c0013t0001 a0012c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0089 a0001c0003t0001g0102 a0001c0003t0001g0109 a0002c0002t0005g0005 a0002c0002t0005g0025 a0002c0002t0005g0034 a0002c0002t0005g0099 a0002c0002t0005g0115 a0002c0015t0005g0019 a0002c0019t0005g0022 a0003c0005t0002g0050 a0010c0013t0001g0011 a0012c0007t0002g0045	44	115	0.3826	-1167	c.875 others(17): Show c.875-6493_875-5327del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
LMX1B_chr9_126608928_126706032	126631518	GGATGGGG others(1160): Show GGATGGGGCAGGCCTATCCTGCCCACAGAGAGCTCCCAGGCTAAGTGGGT GGGTGGGGTGAGGTGGGGATAGGGGCGAGGGCAGAGCTGAGCAGAAATGA GGCCAGCACAGTCCCTGTGCCTGCAGTTATTGGCTCTTGGATTTTGTGAC CCCAGAACTGATTCCTTGAGAGGCCGAGAACTTAACCAGATTTTTCACCA GTGCTTTGGAACCTCAGGTTTTACCACTTCCCGCTGTGTGACCTTAGGTT AGAGGCTTTAAATTCCCTGTGCCTCAGTTTCTTCAAAGTTTACTAAGGAC CAGACCCCTGCCTCCGGGTAAGGATGATTCAGAGGGAGCAGATGCCATTC CTCTTTAGGTGAGTGGTTCCTGCCGATTTTGTTACTGATGCTCCCACAGT CCTTTGTGCTGGGCCTCAAAGGGGGCCACCTTTGACCATATGTATTGGGT CTTAGCTAGAAAAGGGAACGGTAGGTGCGCAGTTCGTACTGAAAGAAAGT ATAAGGGTCTAGAGCTGGGCTGGACTCTGGGCTTGGCCTCTTTCTAGCTG TGTGACCTTTGACAAATTCCTTAGCTTCTCAGAGCCTCCACTCTCTCGCA AGCAAAATGCACGTAAAGAACCTACCTTCCAGGTTGTGGGGAGAGCGAGA TGAGATGCTGTGTTCAAAGAGCCATACCAGTCCATGGGAGCCGTTTTTCT TAGAGGGAAGAGTTGTGGGCAGGGGCCTCGTTAGTCACACAAGAAGGCAG CAAGAGTGTGTGCCAGCTTACGCCAGGCAGGTGCCCGTGAGATGGGAGGC TGCAGCTTGGGAGGATTTGGGGAGGGCATTCCAGGAGGGGGCCCTGGCAG CAGGAATATTGGGGGTTAAATGGGTGGGCTGGGACAGTGAGTCTGGCGGA GGGGCTGCCGAGGGGCTGCTGGGACTGGAGGCTGCAGAGCAGGGCAGGAG CCTGTGGCTGTGCTCGGGCGTTTGGATTTTATCCTGTGGGCAGGAGGGAG CTATTGAAGGTTATTGGACAGGGGAGTGACAGGAACTGGAGAGGCACTTT ATGGAGCTGATGCTGGCAACATGTGCCTGGGATTAGACCGGCGGGAGGAG GCTATTGCCACCTTGGAGGTGAGGGTAGTTGCGGGAACCAGAGAGGGAAC AGGGCACAGGGAGGGTCA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0175 a0001c0002t0013g0175	1	342	0.0029	-1167	c.326 others(19): Show c.326+15950_326+17116del	LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding	2/7			chr9	TogoVar
STK38L_chr12_27239286_27330959	27294433	GGAGGTGG others(1160): Show GGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTG GGCAACAGAGTGAAATTCTGTCAAAAAAAAAAAAAAAAAAGATGCTGGGA AGTCTTATAGTAAGAAACTTATTTAACTTTGTGTAGTCTGGGTTTCTTAA ATTTACTTAAATTCCTCAATTTCCAGTCCATCCTTCCTCTCCCATCCCAA GCCCCAGTTAACAAATGTGATTTGATTTCAGAGATGTTTTCTATACACGA TCCCTGTTTCACTTTTCCTTCTTTGACCTTTTTTTTTTTTTCCAGTTAGA GACAGGGTCTTGCTCCATCACCCAGGCTGCAGTGCAGTGGTTCAATCGCA GCTCATTGTAACCTTGAACAAGGGTTCAAGCAGTCTTCCTGCCTCATCCT CCAGAGTAGCTGTGACTACAGGTGTGCACTACCACACCTAGCTAAGTAAA AAAAAAAAAAAAATTGTAGAGATGAGGAGATCCCAGGCTGATCTCAAACT CTTGGCCTCAAATGATCTTGGCCTCACAAAGTGCCAGGATTAGAGTCATG AGCCACTGTGCCTGGCATTCTTTGACCTTTCTGCATCTGATCCTGAAACA TAGAACATGAGCCCAATGATTCTGAAATTTCCAAAAATGATTTGGCAGCA TTGTTTTAGCAATTCAGTAAGAGCAGCTTAATCCATAAAAATCACTTGGC CATGATAATTCTTGAGTTTATTTTTCATTATTTATTGTTTTAAAAAATAA TGCTCATTATTATTAAAGCATTTAGCACAATACAAAGATTAAACTAGGTG CCTAGAATAGTATCTTACATTTGTATAAGCCATTGTGGCTTTCCTGTGTA TTATCTCAGATGGCCTTAGAACTAGGCCTGTGAACCAGGCAGAGCAAATA TTTTAAGCCCTGTTTTGGGAAAAGTGACTTGAGTTAAGGGTGTTCTGGTG ATTTGAATAAGACCATATGATCAGTTAGCAACAAGGCTGGGATTAGATCT TTTAATTTCTGACTTCTACCTTCTGTAATTTCTTTTTCCACAGTTGCTTA TTAGCCAATCTTTACAGAGCACTTTACTATTGGCTAATTCTTTCAACTAC TGTTACTGCGCCCCCTCCCTCCCCCCAATCAATAGGTTGTCTCATTCATT CATTCATGACTACTCTGA	G G	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	374	0.0027	-1167	c.-11 others(17): Show c.-11-3275_-11-2109del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZNF516_chr18_76352682_76500242	76393066	GGGGAAGG others(1160): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAG GTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0182 a0001c0006t0182	a0001c0006t0182g0130 a0001c0006t0182g0130	1	346	0.0029	-1167	c.181 others(21): Show c.1811-13930_1811-12764del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393094	GGGCAGGT others(1160): Show GGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAG GTGGTCAGGTGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0045 a0005c0008t0045	a0005c0008t0045g0139 a0005c0008t0045g0139	1	346	0.0029	-1167	c.181 others(21): Show c.1811-13958_1811-12792del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
C1orf21_chr1_184382029_184634019	184433186	TGTGTGCA others(1159): Show TGTGTGCAGAGTGGTAGAGTCCTTCCTGCTCTGCTCTAAAACCCTAGCCA TGGAAAATCCTTTCTTCTTCTCCTCAGAGTGCCAACAGTGGCACTGGGGC TCTCTGCTGGGCTGGCAGAGAGGAGTGGATATGTGGAAGTCTTTCTTCCC GAATCTTCTCTTTATAGAGGACTGGTTTAAAACATGTCATGCATTCATAG TGTCATCTGTATGCCTGTCTTTGTAAAGTGCAGATCTGAACATGTTACTT GCACACATAGATGCTTCCAATTGTTCCCATTGCCTACAGAAGGAATGATT ATGGAATAAACTCCAATTTCTTAGTACAATATGCAAAGCCTTCCATGACC AGTCTCTTCCTATCTTCCTAGACCATTGCTGTCCATCAGGAATGTAAAGC AAGCCACATATGTAATTAAAAATTTTTTAGTTGTCACATTATAAAATAGA AAAATAAACAGATAAGGTTAGTTTTAACAACATATTTTATTGTATCCAGT ATATCAAAAATATTATTTCAGCATGTGACACTCGTCATATTTCATGTGCT TAGAAGCTACATGTAGCTAGCAGCTACCACACTGGACCAAATAGTTTTGG TCTCTTGACCTTTAGTTTCCCTTGGACCCCAATCCTCACCTCTCTTTCAA TCCTAGGAACAATGCTTGCCTATTTCCTACTTGGGAACATTTACATGAGC TATTTCTTTCCCATGCCTGAGAAATTCCAGTCCTTTCTTTACATTTTTAA GTATCACTTCTTCTGAGAGTCTTTCTCTAAGAGCCCATCCCTGTCCACTT CTCACCAAGGGCAGACAAAGTGCTCCATTCCCAGGGCTCTTAAAACCCCT GATTCTCCAGCAGGCTTCCTCCCTGTGTACTGTAATTATTTTCCAGACTC TGGACCCGTCCTTCACTAGACCATGAGCACTTTCATGACAGGGATGGTTT CCTATTTATTTTTGTTTAACAAGCACTTAGCATGGTGTCAGAATACAGAA TTCAATGACTCTTGAATAAACACTGGGGTAAAAGTATGAGTGTGGCTAAG GCTAATACCAGGTGACTGCTGAGCACTCCCCGAGGGTCTCTGTGGTGTCA GGCACTTGATGTATATTACCTGATCCTGACTTTACTCTGTCAGGTAGGGG CTATTATCTCCATGTAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01257.hp2 HG01993.hp2 HG00738.hp2 HG01257.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0142 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0001g0142 a0001c0001t0002g0068 a0001c0001t0002g0069	3	232	0.0129	-1166	c.-12 others(21): Show c.-124-44199_-124-43034del	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5			chr1	TogoVar
FGD6_chr12_95071749_95222467	95194523	CCACGCCT others(1159): Show CCACGCCTGGCCTTATATAACATTTTTAAACAACAAAACAATCTGAAATA GACTAGTGGTTGCCAGGGGTTGACGGGAAGAGGTGGGAGGGGGGTGGGTG TGGGTATAAAAGGACAAGAGGGGTCTTGGTGGTGATGGAATGGTGAAGAT GGAGATGCAAACCTACACATCTAATAAAATTATATAGAATTAAATACACA TGTGAGTACAAGTAAAAACGGGGGGAATCTAAAGATCAGTGTGGATTCTG TCAATGTTAATATACTAGTTGTGATTCTTTACTATAGTTCTATAAAATGT TACCATTAAGGGAAACTAGCTGAAGCAGACTAGTTTCTCTCTCTATTGTT TCTTTGCCACATGTGAATCTACAGTTATATCGATAAACATTTCAATTAAA AACAGTAATAAACCACATTGCAAATTCCTCCTGGGTAAGAACTATCCTTA ATTTCTATGCTGTTTTTTCACTTCCACTTCCAAATGCCGAGAGCAGCCTC AGATAAGGACATAATCGGAGGTAATTTATTTGTTTCCTGGTTTTCCTGAG GGGACATGAAGTTTACTGACTTCTATAAAAGTAAAATCTATTATTTTGCT ATAAATTTTATATTTAAAATGCCATATAAATTCTATGAAATAAAATCTAA CAATCCAAATCTCTCTGAAGCACCTGATTAGCTACAACGGACTAAAATCA CCTGACAACATCCCCTCCAGCAGGTAAAATGTCACTATGTTTACATAAGA ATCAGAGATCTCTGAAATCAACTGTCATCAGGTAGGAATCTCTGCCAAAG AATACTGGCAGATTGAGGCCACAGGACTTCACCAGGTTCTATAACAAAAG CCTTCAGAGCAGCATCACACCACTGTCCCTTGGCCATCCTCTGTTTTGTT TTTAGCATAAAACAGGGAAAGGCAGGAAACAAGCGATGAAAGGCAGTGAA ATGGACACGTACCTACACCTGTAGACTAAAAACTGAAAGCCTATACTTAT ATGCCCTTTGATAACGAAATGTCCTGGCAACCAGGCCAACTGTGTCGCTA TTTGTGGGTAGATTTTAATTTAATTTGAGAGGAAAAAAAATTACAAATTC ATTAAAAAGTCAGAATTATAGGATATTTTAAATAAAATACAGTTTGAAAG GGCCGGGCATGGTGGCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0298 a0001c0001t0028g0298	1	384	0.0026	-1166	c.244 others(21): Show c.2441+13154_2441+14319del	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	2/20			chr12	TogoVar
IL3RA_chrX_1331785_1387689	1371352	CCTCCAGC others(1159): Show CCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCC GCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATC TCATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGA GGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGA GGAACCAGCCCTGCCCACACCTGGATCTCAGAACTCCAGCCTCCAGGGCT GTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTC TGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGACATG AGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGA CGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCC ACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGT GTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGA GATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGACACAGACACACA CAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCC AGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGA ACTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCC GCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATC TCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTG TGAGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCA GGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGG GCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTA TTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACG AGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAG ACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCC CACACCTGGATCTCAGA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	115	0.0087	-1166	c.874 others(17): Show c.874+6102_875-6140del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1372119	CTGTGACA others(1159): Show CTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGAT GAGGACACAGACACACACAGAGGGACGACCCTGTGAGGACACAGGGAGAA GACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGC CCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAAT GTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCT GAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACAC AGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCC AGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGA CCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCC GCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATC TCATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGA GGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGA GGAACCAGCCCTGCCCACACCTGGATCTCAGAACTCCAGCCTCCAGGGCT GTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTC TGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGACATG AGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGA CGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCC ACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGT GTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGA GATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGACACAGACACACA CAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCC AGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGA ACTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCC GCCCAGCCTCTGGTATT	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0004 a0015c0017t0001g0004	1	115	0.0087	-1166	c.875 others(17): Show c.875-6539_875-5374del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar
ZMYM4_chr1_35263709_35427058	35412131	AGCCTCCC others(1159): Show AGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCGGG ACTTTCTTAATTTCCTGTTTGGATTGTTCATTGCTAGCTTGAAATACAGC TGATTTTTGTGTATTGCTTATATGCTGCAACTTGGCTGGATTCACTTATT AGCTCTAATAATTCATTTTTCTGTGTATTCTCTAAGATTTTCTATATATA GGATTCTGTCACCTGCAACTAGAGATAATTTTACTTCTTCCTTTCCTATT TGAATGCGTTATATTTATTTTTCTTGCCTGGCTGCTCTGCTAGGATTCGC GGTACAGTGTTGACGAAGAATGGCAAGGATAGGCATTCTTGTCTTGTTCC TGGTTAAGGGGGAAGAGACTTTTTTTAAACATGTATGTTGCGTTATATGT ACTGATATATTTCTGTAACTGTACAAAACTCACTTCTGCATAATGGAATT TCTTAAAGATTGGAAATATTTTTGCATATGAATAGTAGTTGACTTTGTGT GATGAGTTTGAATGAGTTTGAATAGTCTACTTTTTCTTTATTTTGAACTT TTTCAATAACGAAGATATATTTTTAAGCTTGAAAGTGACTATATTAAAAG AAGAAAAAGAGGAATACTGTTGAACAACAAACTGTAATCTGCCAATAAGT TCATAAATTGCCTTTGAGGAGGCCTCATAAAAATGCCTATTGAAGTGGTA ATTTTTGTTAGCCAGAATAAATTTAAATGGAAATAATTTTCTCCAAATCA TACATAGAAATGCAAGAAACCAAGATAGCCACAGAAATATAAATTAAAAA TACTAAACCTTAAAAACACCAAAATACTTTTATCACGTAATTACATGCTG CCTTGGATTCCGTTACTACTCATGGTGTGTCCCTGTCTCAATTGATTTTA TCTGACCTGCGCCGTCAGTACTTTTTAAAAGAGACAGGGTCTTGCTCTGT TACCCAGGCTGAAGTGCAGTGATATGATCATAGCTTGCTGCAGTCTCAAA CTCCCAGGTTCAAACAACCCTCCTGCCTCAGACTCCCAAGCAGTTAGGAC TACAGGCATGCACCACCACCCCTGGCTATTTGTTTTTAAATTTTTTGTAG AGATGGGTCTCACTGTGTTGCCCAGGTTAGTCTTGCACTATTGACCTCAA GTGATCCTCTCACCTTG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03130.hp1 HG02970.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0298 a0001c0001t0001g0118 a0001c0001t0001g0298	2	298	0.0067	-1166	c.394 others(18): Show c.3949-1829_3949-664del	ZMYM4	ENSG00000146463.12	transcript	ENST00000314607.11	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
DACT2_chr6_168301904_168324777	168316487	ACGTGTGT others(1158): Show ACGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAG AAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACC TCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAG GTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTC GGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGC TGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAA CAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCT GTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCA AACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACG TCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTG TCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTG TGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCT GCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCT TCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCAC GCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAG CACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGC TGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCA TCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGT GTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACAC ACAACAGCATCTCAGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGT GGCTGTCGTGTGCTGAGCTGCAAACACACAACAGCATCTCGGCAGCACCT CCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGG TCACGCAGAAGCTGCGATTGTGTGTGGTGCAAACACACAACAGCATCTCG GCAGCACCTCCCTTCC	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0160 a0003c0004t0004g0160	1	476	0.0021	-1165	c.246 others(17): Show c.246+1736_246+2900del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
IL3RA_chrX_1331785_1387689	1372497	CTGCCCAC others(1158): Show CTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAAT CAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCA GCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACAC ACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAA GCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCT CAGAACTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTA AGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGA CATCTCATAAGAAGAGGACATGAGGACACAGACACACACAGAGGGACGAC CCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCC TCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCC AGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTG GTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAG GAGATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAGGG AGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCC CTGCCCACACCTGGATCTCAGAACTCCAGCCTCCAGGGCTGTGGGAGAAT CAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCA GCCTGAGATGGACTAAGACATCTCATAAGAAGAGGACATGAGGACACAGA CACACACAGAGGGACGACCCTGTGGGACACAGAAGACGGGGTCTCCAAGC CCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCA GACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAG CCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACA TCTCATAAGAAGAGGACATGAGGACACAGACACACACAGAGGGACGACCC TGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGAGGCCT CAGGAGGAACCAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19240.hp2 HG02451.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0104 a0001c0001t0001g0084 a0001c0001t0001g0104	2	115	0.0174	-1165	c.875 others(17): Show c.875-6045_875-4881del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12621992	AAGAAAGA others(1157): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAAGAAGGAAAGAAGAAGAA AAGAGGAGAAGAGAGGAGAGGAAAGGAGAGGAGAGGAGAGGAGAGGTGAA CTATAAAAAGAACCAAACAGAAATCCTGGAGCTAAAGAATACAATGACAA AACTAAACATTTTAATAGCTTCAACAGCAGACTCAATTATGCAGAAGAAT CAGCAAATGTGAAGACAGGCTATTTGAAATTACCCAGTTAGAGGAACAGA AAGTAAAAAGAATAAAAAAGAGTAAAGGAAGCATACAGGTCCTATGAGAT ACCATCAATTGAATGAATATATGCATTATGGGAATATTAGAAGGAGAAAA GGAAAAAAGGGGAAAAAGCTTATTTAAAGAAATAATGGCTGAAACGTCCT AAATCTTGGAAGGGATATGGACATCCAGATTTATACAAATCAAAGGGTCT CAAGCAGAATCAATCCAAAGACTACTCTAAGACACATTATAACCAAATTT TTAAAAGCCAAACACAGACATAGAATATTGCCCCTAAGAGATATCATTTG AGATATATAAATTACATGAAAAATAATACAAAATAATCACCTTAATGAAG CTCAGTGGGATACAAGAGAACACAGACCACCAAGAAAAACAAAAAGCAAT ACATAAACAAAATAAAAAGTTTAATAAAGAAATACAGGTCAGGCGTGGTG ATTCACATTTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAGATGGC TTTGAGCCCAAAAGTTCAAGACTAGCCTGGGCAACATGGCAAAACCCCAT CTCTACAAAAATTAGCCAGATGTGGTGGCCCGAATCTGTAGTCCCAGCAA CTTGGGAGGCTGAGGTGGGAGGATGACTTGAGCCCAGGAGGCAGAGGTTT CAGTGAGCCAAGATCACACCACTGCACTGTAGCCTGGGCAACATAGCCAG ACCCTGTTTCAAAAAAAGAAAAGAAAAGAAAGGAAAAAGGAAAGGAAGTA ATAAGGAAAGGAAAAAGGAAAGGAAGGGAAGGGAAGTGAAGGGAAGGGAA GTGAAGGGAAGGGAAAGGAAGGGAGGAAGAAAGAAAGAAAGAGAGAGAGA GAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02257.hp1 HG03688.hp1 others(1): Show HG01981.hp1 HG02257.hp1 HG03688.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0033 a0001c0001t0002g0084 others(1): Show a0001c0001t0002g0024 a0001c0001t0002g0033 a0001c0001t0002g0084 a0001c0001t0002g0116	4	174	0.0230	-1164	c.422 others(17): Show c.422+7138_422+8301del	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
TCF3_chr19_1604292_1657615	1627753	AAAGGGGA others(1157): Show AAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGA TGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAG AGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGG GTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAG GGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGCGGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19091.hp2 HG00558.hp1 NA19091.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0074 a0002c0001t0006g0086 a0002c0001t0006g0074 a0002c0001t0006g0086	2	352	0.0057	-1164	c.299 others(16): Show c.299-1491_299-328del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
DACT2_chr6_168301904_168324777	168316596	ATGTGTGT others(1155): Show ATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAG AAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACC TCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAG GTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTC GGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGC TGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAA CAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCT GTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCA AACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACG TCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTG TCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTG TGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCT GCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCT TCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCAC GCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAG CACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGC TGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCA TCTCAGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGT GTGCTGAGCTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCA TGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGA AGCTGCGATTGTGTGTGGTGCAAACACACAACAGCATCTCGGCAGCACCT CCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGG TCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCG GCAGCACCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02165.hp1 HG02523.hp1 others(5): Show HG02074.hp2 HG02165.hp1 HG02523.hp1 HG03017.hp2 NA18953.hp2 NA18957.hp1 NA18961.hp1 NA19066.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0025 a0002c0002 a0003c0004 a0001c0025 a0002c0002 a0003c0004	a0001c0025t0002 a0002c0002t0007 a0003c0004t0004 a0001c0025t0002 a0002c0002t0007 a0003c0004t0004	a0001c0025t0002g0158 a0002c0002t0007g0157 a0003c0004t0004g0025 others(2): Show a0001c0025t0002g0158 a0002c0002t0007g0157 a0003c0004t0004g0025 a0003c0004t0004g0041 a0003c0004t0004g0159	8	476	0.0168	-1162	c.246 others(17): Show c.246+1630_246+2791del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DCXR_chr17_82030858_82042697	82040833	CTGCACTC others(1154): Show CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAGCAATTTGAGGTGCCCGGGGATGCTGAAGAGGTAGAGTG GCATACCTGGGTTGAGAAAAATTATCGTAATGCCAATTGGAGTCCCATAA AAGAGGACTGGCATCAAAAAGAGGAAAAGGGTTCAAAGGAGATTTATCAT GGGGTTCAGAATCACGGACGCGAGGGGCGGTAGCAGGGACAACAGACAGA AAAGTTTCCCCTTCCCATACTCGCAGTCTGGATGTGGCAAGAGCCAATTT TCAAAGTTCTGGGTGTTCTGAGCTCAGAATGGGGAGTATCACACGAGCCC TCGGGGGACAATGTCCTTATTTTCCCATTTTAAGGGAAAGAAAGAGCTGA ACCTCCTATACAAAGTAAAATGATGATCCTCGTTCTTCCAATAAGAAATA AAACAAGTAGCCTCCAGGCATTCCCTCCCGCCACAGGAGCAATTGTTTTT TAAATAGCCCTTTGGTACCCAGTCTATTACTAAACCATATGAGTCAGTTT TGGTTTTTTTTTTTGAGTCGAACAAGCATTTCTGTGAACCGGACCGATGA ACGTTTCTACACAACTACCAAAGGGAAGCGGGTCCCCACATGCACTCAGG AAAAAGAAAAGCCACGTTGGCGCGCCAGATATCGGGGGAACCAGCCCCCA GTATTTCAATGTAGGTTCTTTCTATTTTCCATAAGTGTTGGCTGGCTGAG AAATGAAGAGAAAGAGTACAAAGAGAGGACTTTTACAGCTGGGCCTCCCA GGGCGACATCACATATCGGTGGGACCCTGATGCCCGCCTGAGCCGCAAAA CCAGCAGGTTTTTATTAAGGATTTTGAAAGGGGAGGGGGTGCAAGAACAG GGAGTAGGTCACAGAGATCACATGCTTCAAAGGGCAAAAAGGAGAACAAA GGCACTTCAGGAGGCCAAGGCCAGTGGATCACCTGAGGTGAGGAGTTTGA GACCAGCCTGGCCAGCGTGGTGAAACTCCGTCTCTACTAAAAATACAAAA ATCAGCTGGATGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGCAGC TGAGTCAAGAGAATGATTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCA AGATCGCACCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02572.hp2 others(10): Show HG01884.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03139.hp1 HG03209.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0002t0001g0005 a0001c0002t0001g0012 others(2): Show a0001c0001t0001g0017 a0001c0002t0001g0005 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0022	13	422	0.0308	-1161	c.-43 others(11): Show c.-4312_-3152del	DCXR	ENSG00000169738.8	transcript	ENST00000306869.7	protein_coding		3137		chr17	TogoVar
GPHN_chr14_66503147_67186803	67138974	GCACTTTG others(1154): Show GCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTCAAG ACTAGCCTGGCAAACATGGTGAAACCCATCTCTACTAAAAATACAAAACA TTAGCCAGCCATGGTGGCGGACATTTGTAATCCCAGATGCTTGAGAGGCT GAGACAGGAGAGTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGA GATCGCGCCACTACACTCCAGCCTGGTCAACAAAGCAATACTCCATCTCA AAAAAAAAAAGAGAGAGAGAGACTAGGTCTCACTACATCACCCAGGCTAG AATGCAGTGGCTATTCACAGATGTGATAATAGCTCGCTGCAGTCTTGAAC TCCGGGGCTCAAGCAATCCTCTCACATCAGCCTCTCAGGTAGCTGAGACT ACAGGTGTGCCACCGCACTTGGCCAGCATCCTCTCTTTCTGATGATTCTG GACAAGGGTCCGTTCTCATTAGACTCTTTCTTTTATGGTATATTACATGC CTTTAAAAAACTACACAATCACTTCTGATTAGGCAGGGAGTGGAACAAGC ATTTAATAAGAAGCCAGAGTTTGTAGTCCTGGCTCTGCCATTTACTGCTC TATCTACACTTTGCCTCTCTGAATATAACTTGCCTTTTCTTAAAATGAGC ATAGTAATACCTTTTCAGTCTAGCATACAGATTTGTTGAGAGATTATAGC ATGCAACATAAATGAAGTTATAGATCCCCTGGCTGTTGTCATATGTTGGT ACCTGTCTCTCTAGTAAGGCAGGATGTCTGATCAAATCTCCAGAAGCCAG AAGCGTACAACAGAAAGGAGAGTTACAGAGAGTAGCAAAGGGGGATAGAG TATGGCAGGACCCAAATAACTGGCCCAGCAGTGACAATGGACAAGATAAC ATTTACAACTTTGAGATTCAATGATTTTGTGAATATACTACCCACAGAGT ACAAAGTATCATTGAGCATATTCTTTGAAACATGATAAATTTCAGTAAGG ATTTGGAACAAAATCCCTTTCAGCTGATTTCTGCAAATTAGAAAATTTCA TGTAGAGAATTGATGTCTCTGAGGTTTCACAAAATAGGAAAAAAACATGT TTCCCAGATAACATGAAAATAATGAGTAAGGCTGGCACGGCGGCTCACAC CTGTAATCCCAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	234	0.0043	-1161	c.174 others(19): Show c.1749-4369_1749-3209del	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTPRD_chr9_8309246_10618002	10136559	TTAAAGAT others(1154): Show TTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAAC CTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAA AACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAA TTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAAC AGGCAACCTACAACATGGGAGAAAATTTTCGCAACCTACTCATCTGACAA AGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAA AAACAAACAACCCCATCAAAAAGTGGGTGAAGGACATGAACAGACACTTC TCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATC ATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATC TCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGC TGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTG TAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATC TAGAACTAGAAATACCATTTGACCCAGACATCCCATTACTGGGTATATAC CCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTT TATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTC CAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAA TACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATG GATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAA CCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCA CATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGCGTCG GGGGAGGGGGGAGGGATAGCACTGGGAGATATACCTAATGCTAGATGACA CATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTA ACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAA AAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01099.hp2 others(13): Show HG00642.hp1 HG00642.hp2 HG01099.hp2 HG01109.hp2 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02622.hp1 HG03225.hp2 HG03579.hp2 HG03834.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0013 a0002c0009 a0004c0016 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0002t0003 a0001c0002t0009 a0001c0002t0015 a0001c0003t0004 a0001c0007t0021 a0001c0010t0017 a0001c0013t0012 a0002c0009t0006 a0004c0016t0020 a0005c0015t0010	a0001c0001t0001g0004 a0001c0001t0002g0013 a0001c0001t0002g0018 others(13): Show a0001c0001t0001g0004 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0013g0022 a0001c0001t0014g0008 a0001c0001t0019g0023 a0001c0002t0003g0024 a0001c0002t0009g0017 a0001c0002t0015g0010 a0001c0003t0004g0027 a0001c0007t0021g0002 a0001c0010t0017g0016 a0001c0013t0012g0014 a0002c0009t0006g0007 a0004c0016t0020g0011 a0005c0015t0010g0026	16	34	0.4706	-1161	c.-54 others(23): Show c.-544-103930_-544-102770del	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
ZNF511_chr10_133303914_133318161	133317000	AGGACACA others(1154): Show AGGACACAGAGATGGAAAGACCACACCCCCTCCAGACGCAGAGATGGAAA GACCACACCCCCCCCAGACGCAGAGATGGAAAAACCGCACCCCGCCACAC ACAGAGATGGAAAGACTGCACCCCCCCTTCCCAAGGACACAGAGATGGAA AGACCGCACCCCACCCCAGACACACAGATGGAAAGGCCTCACCCCCCCAG GACACAGAGATGGAAAGACCACACCCTCCCTCCCCCAGGACACAGAGATG GAAAGGCCGCACCGCCCCCAGGACACAGAGATGGGAAGACCACACCCCCC CCCAGACACACAGATGGAAAGGCCTCACCCCCCCAGGACACAGAGATGGA AAGACCACACCCCCCCTCCCCCAGGACACAGAGATGGAAAGACCACACCC CCCCAGGACACAGAGATGGAAAGACCACACACCCCCTCCCCCAGGACACA GAGATGGAAAGACCACAACCCCCATCCCCCAGGACACAGAGATGGAAAGA CCACACCCCCCACACACACAGAGATGGAAAGACCACACCCCCCCCAGACA CAGAGATGGAAAGACCACACACCCCCCCCAGACACAGAGATGGAAAGACC ACACCTCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCCCA GACACAGAGATGGAAAGACCACACCCCCCCCCCCAGACACAGAGATGGAA AGACCACACCCCCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCG CCCAGACACAGAGATGGAAAGACCACACACCCCCAGACACAGAGATGGAA AGACCACACACCCCCCCCCCCCCAGACACAGAGATGGAAAGACCACACCT CCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCAGACACAGA GATGGAAAGACCACACCCCCCCCAGACACAGAGATGGAAAGACCACACCC CCCCCCAGACACAGAGATGGAAAGACCACACCTCCCCCCCAGACACAGAG ATGGAAAGACCACACCCCCCCCCCCAGACACAGAGATGGAAAGACCACAC CCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCAGACACAGA GATGGAAAGACCACACACCCCGCCCAGACACAGAGATGGAAAGACCACAC CCCCCCCAGACA	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0036	-1161	c.41 others(11): Show c.4135_*5295del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		3840		chr10	TogoVar
DVL1_chr1_1330278_1354418	1349974	TGGGAGGA others(1153): Show TGGGAGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02886.hp1 HG02895.hp2 others(2): Show HG02622.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	5	344	0.0145	-1160	c.-20 others(10): Show c.-2069_-910del	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		557		chr1	TogoVar
FRMPD4_chrX_12133473_12729523	12621996	AAGAAAGA others(1153): Show AAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAAGAAGGAAAGAAAGAAGGAAAGAAGAAGAAAAGA GGAGAAGAGAGGAGAGGAAAGGAGAGGAGAGGAGAGGAGAGGTGAACTAT AAAAAGAACCAAACAGAAATCCTGGAGCTAAAGAATACAATGACAAAACT AAACATTTTAATAGCTTCAACAGCAGACTCAATTATGCAGAAGAATCAGC AAATGTGAAGACAGGCTATTTGAAATTACCCAGTTAGAGGAACAGAAAGT AAAAAGAATAAAAAAGAGTAAAGGAAGCATACAGGTCCTATGAGATACCA TCAATTGAATGAATATATGCATTATGGGAATATTAGAAGGAGAAAAGGAA AAAAGGGGAAAAAGCTTATTTAAAGAAATAATGGCTGAAACGTCCTAAAT CTTGGAAGGGATATGGACATCCAGATTTATACAAATCAAAGGGTCTCAAG CAGAATCAATCCAAAGACTACTCTAAGACACATTATAACCAAATTTTTAA AAGCCAAACACAGACATAGAATATTGCCCCTAAGAGATATCATTTGAGAT ATATAAATTACATGAAAAATAATACAAAATAATCACCTTAATGAAGCTCA GTGGGATACAAGAGAACACAGACCACCAAGAAAAACAAAAAGCAATACAT AAACAAAATAAAAAGTTTAATAAAGAAATACAGGTCAGGCGTGGTGATTC ACATTTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAGATGGCTTTG AGCCCAAAAGTTCAAGACTAGCCTGGGCAACATGGCAAAACCCCATCTCT ACAAAAATTAGCCAGATGTGGTGGCCCGAATCTGTAGTCCCAGCAACTTG GGAGGCTGAGGTGGGAGGATGACTTGAGCCCAGGAGGCAGAGGTTTCAGT GAGCCAAGATCACACCACTGCACTGTAGCCTGGGCAACATAGCCAGACCC TGTTTCAAAAAAAGAAAAGAAAAGAAAGGAAAAAGGAAAGGAAGTAATAA GGAAAGGAAAAAGGAAAGGAAGGGAAGGGAAGTGAAGGGAAGGGAAGTGA AGGGAAGGGAAAGGAAGGGAGGAAGAAAGAAAGAAAGAGAGAGAGAGAGA AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	174	0.0058	-1160	c.422 others(17): Show c.422+7138_422+8297del	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16		INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results (Total: 2609 hits)