Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TPO_chr2_1408463_1548673	1443666	CTGCTGCA others(864): Show CTGCTGCAGGAGGCACCTTGTTGGAAGGGAATGGAGCTGGCTCCTTCTTG TTTGTATGATCCAGTCATTGCTGCGGGAGGCACCATGTTGGAAGGGAATG GGGCAGGCTCCTTCTTGTTTGTATGATCCAGTCACTGCTGCGGGAGGCAC CATGTTGGAAGGGAATGGGGCAGGCTCCTTCTTGTTTATATGATCCAGTT ATTGCTGCAGGAGGCACCATGTTGGAAGGGAATGGGGCAGGCGCCTTCTT GTTTGTATGATCCAGTCATTGCTGCAGGAGGTACCATGTTGGAAGGGAAC GGGGCAGGCTCGTTCTTGTTTGTATGATCCAATCACTGCTGCAGGAGGCA CCATGTTGGAAGGGAATGGAGCTGGCTCCTTCTTGTTTGTATGATCCAGT CATTGCTGCGGGAGGCACCATGTTAGAAGGGAATGGGGCAGGCTCCTTCT TGTTTGTATGATCCAGTCACTGCTGCGGGAGGCACCATGTTGGAAGGGAA TGGGGCAGGCTCCTTCTTGTTTATATGATCCAGTTATTGCTGCAGGAGGC ACCATGTTGGAAGGGAATGGGGCAGGCGCCTTCTTGTTTGTATGATCCAG TCATTGCTGCAGGAGGTACCATGTTGGAAGGGAACGGGGCAGGCTCGTTC TTGTTTGTATGATCCAATCACTGCTGCAGGAGGCACCGTGTTGGAAGGGA ATGGAGCTGGCTCCTTCTTGTTTGTATGATCCAGTCATTGCTGCAGGAGG TACCATGTTGGAAGGGAATGGAGCTGGCTCCTTCTTGTTTGTATGATGCA GTCATTGCTGCAGGAGGTACTGTGTTGGAAGGGAATGGGGCAGGCTCCTT CTTGTTTGTATGATCCAGTCAT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0019 a0004c0005t0001g0019	1	130	0.0077	-871	c.482 others(17): Show c.482+7299_482+8169del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
VAV2_chr9_133756894_133997324	133827245	CTGAGCGG others(864): Show CTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACT GAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGA GCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGG GCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCACGGGC ATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCAT CGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCC AGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCAC CTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCT ACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTAC CGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTG CTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCT GCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGC GCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGC CCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCC ACTGGGGCTGACCACTGAGCGG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0172 a0002c0001t0001g0172	1	200	0.0050	-871	c.449 others(17): Show c.449+6156_449+7026del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827533	CTGAGCAC others(864): Show CTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACT GAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGA GTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCAC GGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGG GCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGC ATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCAT CGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCA CCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACC ACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCAC CTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCT ACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTAC CGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTG CTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCT GCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGC GCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGC CCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCC ACTGGGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0012 a0002c0011t0012	a0002c0011t0012g0003 a0002c0011t0012g0003	1	200	0.0050	-871	c.449 others(17): Show c.449+5868_449+6738del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
AGO2_chr8_140515156_140640633	140622366	CGGGGGAA others(863): Show CGGGGGAATAATGCACATGGGGTCTCCTCTCGGGGGAATAATGCACATGG GGTCTCCTCTCGGGGGAATAATGCACATGGGGTCTCCTCTCGGGGGAATA ATGCACATGGGGTCTCCTCTCGGGGGAATAATGCACATGGGGTCTCCTCT CGGGGGAATAATGCACATGGGGTCTCCTCTCGGGGGAATAATGCACATGG GGTCTCCTCTCGGGGGAATAATGCACATGGGGTCTCCTCTCGGGGGAATA ATCCACATGGGGTCTCCTCTTGGGGGAATAATCCACATGGGGTCTCCTCT TGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGG GGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATA ATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCT TGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGG GGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATA ATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCT TGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGG GGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATA ATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCT TGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATCCACATGG GGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGTAATA ATCCACATGGGGTCTCCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0281 a0001c0010t0002g0281	1	338	0.0030	-870	c.22+ others(17): Show c.22+12249_22+13118del	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
C1orf159_chr1_1076823_1121089	1077425	AGGCTGAG others(863): Show AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTC TATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGG AGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACT CCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGC TATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGG AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGG AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACT CCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGCGTC TATGGGGACTCCGTGAGGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0287 a0001c0001t0006g0287	1	326	0.0031	-870	c.45 others(11): Show c.4598_*5467del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4397		chr1	TogoVar
DPP6_chr7_154047398_154899285	154062806	GCAGAGGG others(863): Show GCAGAGGGGGGAGGCACCCCCCGCGAGGCGGGGACTGCGAGCCAGACCCT CTTCCTCCCCCAGCTTAGGACCCCCATCGTTGATCCTAAGATCCTTAGGA CCCACCTGGAGGACTGTGGGTGTTAGTTGTCCAGGTAGAAATTTCAAATC TTCCGACGGCAGGTACCTTACGTGGAATTACTGAGAGCCAGTCCCTCTTC CCCCCCTGGCTCTGAGGAACCCCATCACAGGAGGGGGAGGCACCCCCCAC GAGAGTGGGGACTGAGAGCTATCCCCTCTTCCGCCCCTGGCTGTTAGTAC CCCCATCGCAGGGGGGGAGGCACCCCCCACGAGAGTGGGGACTGAGAGCT ATCCCCTTTTCCGCCCCTGGCTGTTAGTACCCCCATCGCAGGGTTGGGGA GGCACCCCCCCGCGAGGCAGGGACTGAGAGCCAGCCCCTATTCCCCCACT GGCTCTTAGGACCCCCATCGCAGAGGGGGGAGGGACCCCCCATGAGGCGG GGACTGAGAGCCAGTCCCTCTTCTCCCTCTGGCTCTTAGGAACCCCATTG CAGGAGGGTGTGGCACCCCCCACGAGGGTGGGGACTGAGAGCTATCCCCT CTTCCGCCCCTGGCTGTTGGTACCCCCATCGCAAGGGGGGGAGGCACCTC CCGCGAGGCAGGGACTGAGAGCCATTCCCTCTTCCCCCCCTGGCTCTTAA GACCCCCATCGCAGGAGGGGGAGGCACCCCCCGCGAGGGTGGGGACTGAG AGCTATCCCCTCTTCCGCCTCTGGCTGATAGTACCCCCATCGCAGTGAGG GAGGCACCCCCCACGAGGCAGGGACTGAGAGCCACTCCCTCTTCCCCCTC TGGCGCTTAGGACCCCCATCC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	38	0.0263	-870	c.243 others(18): Show c.243+9747_243+10616del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HIC1_chr17_2050103_2068241	2062792	TCTCAGGC others(863): Show TCTCAGGCTTGCCAGCTCCAGGCAGGGAGGCTGAGAACTGGCTTTCAGCC TGGGGAGGAGTTTGGAGGATTCGGGAGGGAGAGGTTTGTGGGGTTGGTGG TGGCGAGAGAAGAGGACAGGAGGAAGGAGAGTGTGAAGGGAGGCAAGGGG CTGTGGGCAGAGGGGAAAGGAAGGTGGCCTCGGGTGAGGGGATACTCAGA GACTACTCAGCTGCCTGGGCCAGGCCCCTCTGCAGATAAGTGTGGCTGGG GTGGTGGTATGCAGGGCTGTGTGGGGCTCCCAGCTGACTGGCTGCGTCTG TAGCAGCCCCACTATTCCTGCCCTGGGCCTCAAACCAGGAGCGTCCCAGG CCTTAGGTCAGCTAACCAAGGCCCGACATTGCTGGCAGGGGTCTGCAGGG GTTTCTGTGGATACTTTGACATTTTTCACAATAAACATCCTCTGTTTTGA CACTGGTAACTTCACTTTGTTAGAAACCAGAGACTGTCATCTTGTCAGGC CCCATCCGCCATAATCCACATGATTTTAAAATTCAACATCGTTTACACAT AAACATTTAGTGACGGTTTCTCTGTGAATCTGACAAGTTAATCTGCTAAG AATTCACACTGACAAATGGGCTTTGATTACACCAGCCATTGCTGATGTCA TTCTGATAGGGGCGGTCCCCCGGATGGCAATGGGTTCCTGTAGGCTGTTT GGGGTGAAGTCGGGGGTGGGAGGACTAGTAGGACCAAAGCCAAAATGTGT CCGTTCTGAGAAAGAAAGTTCTGAGGCTGGGGTGGGGCCCAGCAGTCCTG GAACCACACTTCCCAACAAGGCCTTCAGCAATCCCGCCTACCTTTCTCTC AGGAGGTACCCCTCTAGGAAG	T T	splice_region_variant others(1): Show splice_region_variant downstream_gene_variant	LOW	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0001 a0001c0001t0048g0001	1	414	0.0024	-870	c.39 others(11): Show c.3958_*4827del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding	2/2	0		chr17	TogoVar
KIF13B_chr8_29062278_29268070	29227186	ATTTCAAT others(863): Show ATTTCAATTATAGTCAATCCTCATCTCAAGTTATGAAATATTTAATATTT TCTGCCACTTATTAATAAAAAGCATTTTATACTAACTGCTACAGTGGTTT ACACTTTATTTTTTATTTTTTGAGATGGAGTTTTGCACTTGTTGCCCAGA CTGGAGTGCAATGTCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGG TTCAAGTGATTTTCCTGCCTCAGCCACCCAAGTACTTGGGATTACAGGTG CCCACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTT CACCATGTTGGACAGGCTGGTCTTGAACTCCTGACCTAGGTATATTTCAA TACGTATCTGGTTTCCTTGATAATCCTATGTATTTTATGTTTTTGAAAGA TTATTCTGAGAAGGAGTCCACATGATTTATCAGACTGTCAAAGGGTTCAT GACCAACAAAAGGTTGCGAATTTCTGCTCCAGGCTGGCAGCAGCGGCTCA CGCCTGTAATCCCAGGGCTTTGGGAGGCAAAGGTGGCAGGATCACTTGAG GCCAGGAATTCAAGACCAGCCTGGACAACATAGAAGGACCCAAAAATCTA CAAAAAACTTGAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGCCCC AGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGGAGTTCAA GTACATGATGAGCCATGATAGTGCCACTGCATTCTAGCCTGAGCAATAGA GCAAGACTTTAAAAAAAATTTTTTTTAAGTCTGCTCTAGAAGCTGTGTTT AGCGCCTTCAGCTACCTTTCTTTCCTGATCAACACTGGAAATTTTTTTTA TAATTTGGTTTTTTTTTTTCC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0030 a0001c0033t0030	a0001c0033t0030g0267 a0001c0033t0030g0267	1	288	0.0035	-870	c.149 others(19): Show c.149+17290_149+18159del	KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	2/39			chr8	TogoVar
PPP1R12C_chr19_55085918_55122637	55093345	GACCCCAG others(863): Show GACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCC CCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCTC CCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCAG CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCA GGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCA GGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCC TCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGA CCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0108 a0006c0017t0001g0108	1	390	0.0026	-870	c.168 others(17): Show c.1683+130_1684-113del	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	13/21			chr19	TogoVar
PPP1R12C_chr19_55085918_55122637	55093420	CCCCAGCC others(863): Show CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAG GAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCC AGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCTCCC TCAGACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGC CCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCAGCCC CTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGAC CCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC CCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCT CCCTCAGACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGG AGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCA GACCCAGGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCC CCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCCAGCCCCTCCTC CCTCAGACCCAGGAGTCCAGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(193): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18997.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0012 a0001c0015 a0001c0020 a0003c0013 a0004c0025 a0007c0019 a0008c0014	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0010t0001 a0001c0012t0001 a0001c0015t0001 a0001c0020t0001 a0003c0013t0001 a0004c0025t0001 a0007c0019t0001 a0008c0014t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(137): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0001g0171 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0112 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0269 a0001c0002t0001g0278 a0001c0002t0006g0281 a0001c0003t0001g0003 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0054 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0065 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0080 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0002g0049 a0001c0004t0001g0018 a0001c0004t0001g0019 a0001c0004t0001g0207 a0001c0004t0001g0209 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0227 a0001c0005t0001g0035 a0001c0005t0001g0037 a0001c0005t0001g0180 a0001c0005t0001g0181 a0001c0005t0001g0182 a0001c0005t0001g0191 a0001c0005t0001g0192 a0001c0007t0001g0026 a0001c0010t0001g0073 a0001c0012t0001g0096 a0001c0015t0001g0064 a0001c0020t0001g0117 a0003c0013t0001g0099 a0004c0025t0001g0279 a0007c0019t0001g0277 a0008c0014t0001g0055	196	390	0.5026	-870	c.168 others(16): Show c.1683+55_1684-188del	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	13/21			chr19	TogoVar
RNF223_chr1_1065967_1079306	1077425	AGGCTGAG others(863): Show AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTC TATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGG AGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACT CCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGC TATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGG AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGG AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACT CCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGCGTC TATGGGGACTCCGTGAGGGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01109.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	324	0.0062	-870	c.-42 others(11): Show c.-4289_-3420del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3120		chr1	TogoVar
TAF15_chr17_35804484_35852242	35839634	GGCCTCCC others(863): Show GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGA GATGCTTTTTTTAACAGAAAGTAGAAGAAATGAGTAAAACATCTCTATAG CCCTCTACTCAAAGGTAGCCACTGATAATATTTCTTAATAATTTTCCTTC TGGTGTTTTAAGATGTATCTTGTAATACTCCAAATAGAGTTTTGTCTTAC GGTATTTTTCATTTAACATTTAAAGGTAGTCATTTCCCCATGTTACAAAT TCATCATTTTTGTTGCACCCTAATTTAACAGTAACTAACACTTACTGCAT GTTTACTGAGGTTTATGAGCTAAGCACAACTTTAAGAGCCTTACACGCAT TAACTCAATTTAATCTTCATAATAATCTTATGAGACATATGCCCTGTTAC TCCCGTTTTACAGAGAGTGAAACTGATGCATAGAGAAACTAAGTAATTTC CAGGATCATAGAGTAAGTCGCAGAGTCAGGATTCAAACTCAGCCGTGCTG GATCTACTCTTTCCAAAGTACTTAACTATGCTGGATTGACAAACACTTGC AGTTCCTTTCAGTTTCAAGATTATTGTACCTCCATCTTCCAAAAACATAA TTGCGTTATTTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTG CTCTGTTGCTCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTTGAAC CTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGTACATGCCACCACGCCCGGCTAATTTTTTATATTTTTA GCAGAGACAGGGGTTTCACTGTGTTAGCCAGGATGGTCTCCATCTCCTGA CCTCGTGATCCACCCGCCTCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03516.hp2 HG02055.hp2 HG03516.hp2	a0001 a0001	a0001c0010 a0001c0011 a0001c0010 a0001c0011	a0001c0010t0001 a0001c0011t0001 a0001c0010t0001 a0001c0011t0001	a0001c0010t0001g0143 a0001c0011t0001g0134 a0001c0010t0001g0143 a0001c0011t0001g0134	2	321	0.0062	-870	c.913 others(17): Show c.913+1110_914-1835del	TAF15	ENSG00000270647.7	transcript	ENST00000605844.6	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARS1_chr11_2995929_3062423	3044654	TAAAGTGC others(862): Show TAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTGTGCTTTT GTTTCTTTGGAAAAAATGAACACACATTCGTTGATTCCAGAGTCCCACCC TGACCTGAGTGATCCAACAACAGACCAACTATGAACCGCTCATGAGAGAC ATGGCTTTGAAACAGGGATGTGGGAGGCTGAAGATAAAATGATGGAGAGG GAAGCCAGGAAGTGGCAAGCAGTCTGCCTACAACACACCAGATGCAGATA GGACCCAAGCAAGGGGTTCATGGAGAGAAATCCTTCATCAGGAAGTTAAG GGTCCTCCATCGGAGGGGTGAGAGCAACACCAAACCTTCATGTTCCTGAA ACTATGGCCTCGGCGTCTGACAGACCCACACCCTCCTCAGTGAAGGGTAT AGCTGACACTCCTTCCCGGGGGGTAGGGAGAGGCCGGCGGGCTGGAAGGG CTGAGCCTCCACTGCGGGTGAGAAGTGCTCAACAAGTTCAACGTCCTGAT ATCCAGTGGACCTCCGTGCTGGAGGCTGGTGATCCAGGGAAGGGATCCAC CAGGAAGGGGTCTGGCTTCACAGGAGTAGGGACCTGGGGGTTAAGCAGAG CCTTTCCATTATCTCCAACCCCCCACCCCGAGACGGAGTCTCGCTCTGTC ACCTAGGCTGGAGTACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCC TCCCAGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ATAGGCACCCGCCATCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CAGGTTGTCACCGACTTAGCGAGCATGGTCTCAATCTCCTGACCTCGTGA TCCGCCCGCCTTGGCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	321	0.0031	-869	c.274 others(17): Show c.274+2230_275-2399del	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	2/22			chr11	TogoVar
AHRR_chr5_316714_443285	357779	GAGTGGAG others(861): Show GAGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGG AAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGT CAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTC CACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTC AGACACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGA GTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAA GAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCA GCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCA CCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCGTCAG TCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGT GGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGA GCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGC GACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACC CGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTC ACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGG AGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGC GCCCGGGAGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGA CTGAGGAAGAGCGCCCGCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0016 a0001c0001t0059g0016	1	268	0.0037	-868	c.244 others(17): Show c.244+3879_244+4746del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC200_chr17_43216420_43233623	43232755	AAGAGTGT others(861): Show AAGAGTGTGAGCCCTCATTCACGCCCAGAGAAGGGCCGCTGGAGGGCTCC TTGGCCTAGCGGTAATGCCAGTGCCTGGGAAGGCCCTGGTTACTTAGCAG GCCTTGGTCTAGCGGTGGCCCCAGTGCCTGGGAAGGCACCCGTTACTTAG CAGAATTACTACGCAGCCATAAAAAAGGATGAGTTCATGACCTCTGCGGG AACGTGGAGGGAGGAAAAGGCCTCATTCTCAGCAAACTGACACAGGAAGC GAAAACAAACACCGCATGTTCTCGCTCCTAAGTGGGAGTTGAACAGCGAG AACACATGGGACACAGGGAGGGGAACATCACACGCCGGGCCCTGACGGGG CGTGGGGGGCAAGGGGAGAGAGAGCATTAGGACAAATAGCCAACGCATGC GGGGCTTCAAACCTAGACGACTGGTGGATAGGTGCAGCAAAGCACCGTGG CACACGTGTACCTATGTTCCAAACCTGCACGTCCTGCACATGTACCCCAG AACTTGGGAGGGGGTGGGGGAAACCAAAAGAGCGAGGGAGAGGCGGGGGG GGGGAAGAGAGAGAGAGAGGGAAAGAGAGAGAGAGACAGAGAGAGGAGAG AGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAC AGAGAGACGGAGAGACAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGACAGGAGAAAGAAGAACTCCGGGTGGGTCCCA TTCCTTTAAAAGGTCGCCACCCACTCGACTGCCAAGCTGAGATCCTAAGG ACCTCCCCAAAGGAGGAGGTCGTGGCCTTCCCAAAGCGCAGTAGCCACGG TGGAAACGACAGCGTGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(286): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0002c0003t0002 a0003c0005t0001 a0004c0007t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(207): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0144 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0004t0001g0053 a0002c0003t0002g0025 a0003c0005t0001g0165 a0003c0005t0001g0166 a0004c0007t0002g0174	289	334	0.8653	-868	c.-50 others(11): Show c.-5069_-4202del	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding		4133		chr17	TogoVar
RIPK1_chr6_3063494_3120187	3091908	CGCGCCTA others(861): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTAC CTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCG CAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGC ACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCG CCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGG AACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCT GCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCA GCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCC TACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAA CCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGC CGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03654.hp2 HG02109.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0080 a0001c0001t0013g0039 a0001c0001t0001g0080 a0001c0001t0013g0039	2	340	0.0059	-868	c.915 others(17): Show c.915+2282_915+3149del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092621	CGCGCCTA others(861): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCT GCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCA GAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCAC CTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCC TACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAA CCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGC CGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	340	0.0029	-868	c.915 others(17): Show c.915+3088_915+3955del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAMD11_chr1_918923_949574	934036	AGGGGAGG others(861): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCG GCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGG GAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGG GCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTT ACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCG TTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	434	0.0023	-868	c.843 others(16): Show c.843-1708_843-841del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934069	AGGCGGCT others(861): Show AGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGG CAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACA GGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCC GTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGC GGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCG GGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGG AGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0078 a0001c0005t0001g0078	1	434	0.0023	-868	c.843 others(16): Show c.843-1680_843-813del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TENM2_chr5_166974029_168269157	166975757	CACTGGTT others(861): Show CACTGGTTGTGACCTTGGTAAAATAACTTTAAGTCTTTGAATCTCAAATT CCTTATAAGATTTGATGAAGGGGAAAATGCACCGGCAGTATCTCTCCCTG GCAGTTAGATCCTCCGGCATTATCAAATACTATAGCATGGCTAAACTGCA ACACCACACTGACATCACCTCGCCCCCATACCAACCTCCTCTGAAACGGT GAAGACAGACCTGGCCTCAAATCCTAACTCTGCTACTTACTAGCTGTAAG ACCTTGGGCGAATTGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGT GTCTGTGTGTGTGTGTGTGTGTGTGTGTAAGAGAGGGGTTGAGAGAGGAA CAGAGAGTGACTTTAGCTGGCAGATACTATGAGATAAAATGGGAAATTAA AGTAGACATATCACTGTACCCCTGGAGTTTATAGTCAGGTTTGTTGGGGA GTCTGTTTCATTGTCTGTAATTGGAAATAACCATGCTTAGCCAAAAGAAT TGTTAAGGTTAAAATGAGAAAAAAAAATCTGAGCAAGTTGCCTAGCACAT GGTGGGTGCCCATAGTAGATTAAGAATATCCTTGGCGAGGTGGCTAATGC CTGTAATTCCAGCAATTTGGGAGGCCGAGGCGGGTGGATCACTGAGGCCA GGAGTTCAAAATCAGCATGGCCAACATGGTGAAACCCCATCTCTACTAAA AATACAAAAATCCGCCGGGCGTGATGGTGCATGCCTGTAATCCCAGCTAC TCCAGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAGGTTGC AGTGAGTGAAGATCGTGCCACTGCACTCCAGCCTGGGCCACGGGGCAAGA CCCTGTCTCAAAAAATTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01943.hp1 HG02922.hp1 HG01081.hp1 HG01943.hp1 HG02922.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0007 a0007c0011 a0001c0002 a0001c0007 a0007c0011	a0001c0002t0031 a0001c0007t0010 a0007c0011t0010 a0001c0002t0031 a0001c0007t0010 a0007c0011t0010	a0001c0002t0031g0036 a0001c0007t0010g0037 a0007c0011t0010g0038 a0001c0002t0031g0036 a0001c0007t0010g0037 a0007c0011t0010g0038	3	54	0.0556	-868	c.-39 others(11): Show c.-3955_-3088del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding		3271		chr5	TogoVar
ADARB2_chr10_1172313_1742525	1239339	GCCTCCCG others(860): Show GCCTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTG CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGCT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTCA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTG CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTTACTCCCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0032 a0002c0002t0026g0032	1	106	0.0094	-867	c.136 others(19): Show c.1361+1925_1361+2791del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144624617	GGTTCACG others(860): Show GGTTCACGGAGCACTCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCC CGGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGC CCGGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCCCCGCGG CCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCG GCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTCCCGGC GGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGG CGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCG GCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTCCC GGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCC CGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTC CCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGT CCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTG TCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCT GTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCC TGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCC CTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCC CCTGTCCCGGCGGCCCGGTTCACGGAGCACTCACTGCACACTGCGGCATC CCCTGTCCCCGCGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp2 HG01516.hp2 others(1): Show HG00741.hp2 HG01081.hp2 HG01516.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0203 a0001c0006t0001g0171 a0001c0006t0001g0181 others(1): Show a0001c0001t0001g0203 a0001c0006t0001g0171 a0001c0006t0001g0181 a0001c0006t0001g0193	4	246	0.0163	-867	c.-81 others(19): Show c.-81-19789_-81-18923del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
CCDC200_chr17_43216420_43233623	43232756	AGAGTGTG others(860): Show AGAGTGTGAGCCCTCATTCACGCCCAGAGAAGGGCCGCTGGAGGGCTCCT TGGCCTAGCGGTAATGCCAGTGCCTGGGAAGGCCCTGGTTACTTAGCAGG CCTTGGTCTAGCGGTGGCCCCAGTGCCTGGGAAGGCACCCGTTACTTAGC AGAATTACTACGCAGCCATAAAAAAGGATGAGTTCATGACCTCTGCGGGA ACGTGGAGGGAGGAAAAGGCCTCATTCTCAGCAAACTGACACAGGAAGCG AAAACAAACACCGCATGTTCTCGCTCCTAAGTGGGAGTTGAACAGCGAGA ACACATGGGACACAGGGAGGGGAACATCACACGCCGGGCCCTGACGGGGC GTGGGGGGCAAGGGGAGAGAGAGCATTAGGACAAATAGCCAACGCATGCG GGGCTTCAAACCTAGACGACTGGTGGATAGGTGCAGCAAAGCACCGTGGC ACACGTGTACCTATGTTCCAAACCTGCACGTCCTGCACATGTACCCCAGA ACTTGGGAGGGGGTGGGGGAAACCAAAAGAGCGAGGGAGAGGCGGGGGGG GGGAAGAGAGAGAGAGAGGGAAAGAGAGAGAGAGACAGAGAGAGGAGAGA GAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGACGGAGAGACAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGACAGGAGAAAGAAGAACTCCGGGTGGGTCCCAT TCCTTTAAAAGGTCGCCACCCACTCGACTGCCAAGCTGAGATCCTAAGGA CCTCCCCAAAGGAGGAGGTCGTGGCCTTCCCAAAGCGCAGTAGCCACGGT GGAAACGACAGCGTGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	334	0.0030	-867	c.-50 others(11): Show c.-5069_-4203del	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding		4134		chr17	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(860): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG02572.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0065 a0001c0001t0001g0012 a0001c0001t0001g0065	2	350	0.0057	-867	c.22 others(11): Show c.2297_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
GPCPD1_chr20_5539439_5616006	5582207	AAAAAAAA others(858): Show AAAAAAAAAAAAACTACTACTCCATAAAGCACTCCAAAACATGTAGTGTA AATATTACTTATGAAGTACTAAAGACTCCAAAACACTTAACACTAAAGCT ATTCAAGTACTGTACACTGTTTTCTGATGTAATATAAACAATCCCAAACA AAATCAAGGAAAAGATGTCAAATTCCTATCTAAATACTGCCAGAGCATGT TCATTTCTACCATACATAAACATATATACCTAATAAAAACCACAACCAAA ACATTCAGGCCTGTTCTTTCCTGTGCTTAGCAGGAAAGCAAACTGGTTAT CAGCAATTTATCTCTGATTCAGAGTCAGTACAAACACAATTCCGCCCACC CGCTTTCCACCTTTTGACTCCTACAGTACAGCATCCAAAATGAGGATGCA GGCTGGGCATGGTGGCTTACGCCTGTAATCCCAACACTTTGGGAGGCCAA GGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATAT AGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGATGA CACTCACCTATAGTCCCAGCTACTCAGCAGACTGAGGCAGGAGAATTGCT TGAACCCAGCAGGTGGAGGCTGCAGCAAGCGGAGATTGCGCCACTGCATT CCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAAAAAA AAGAATGCAGTTTAGTATAATAGCCCTGATACACTGTAAGAATTCCAGCC AGGTGCGGTGGCACACGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGCA GGAGGATCACCTGAAGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAG AAACCCCGTCTCTACT	A A	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0293 a0001c0010t0003g0293	1	386	0.0026	-865	c.349 others(17): Show c.349+1209_349+2073del	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding	6/19			chr20	TogoVar
NKD2_chr5_1003802_1043943	1022149	CTGTCCCT others(858): Show CTGTCCCTGCTCTTCCCACCTGCTGTGGGTGTCCCAACCCATTGTCCCTG CTCTTCCCACCCGCTGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCA CCCGCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTG GGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGTGTCTCA GCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGTGTCCCAGCCCGTTGT CCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCT TCCCACCCGCTGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCG CTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCC CTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCC CACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCT GTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGT CCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCG TTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCT GCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCC ACCTGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGT GGGCGTCCCAGCCCGT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18973.hp1 NA19065.hp1 NA18612.hp1 NA18973.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0019 a0001c0001t0002g0031 a0002c0003t0002g0019 a0001c0001t0002g0019 a0001c0001t0002g0031 a0002c0003t0002g0019	3	319	0.0094	-865	c.142 others(17): Show c.142-9983_142-9119del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
PTPRT_chr20_42067756_43194906	43100797	AGGTGCCC others(858): Show AGGTGCCCAGGTGGGAGAACCTAGGCTACGTTATGAAGATGACATTTCCC ATGCAAATACACATAAACGTGTCTATCACTCTTGTGCACATGTGTGGGGC TGTGTGTTGGGATGGCATTAATAGTAGCTAAGGTGTTAAAAAATACAATA CTAAAATTCCCAGGCAAAGCAAAAGTTTCCACCAATTATCCGAATAATTT TTCCAAAAGTTCAGATAATAGGCACGTTTAAGAAATTTCTGGTACAAAGA AACAAACATGTGGCTACCTTTTCCTTTTTAGCAGGATGCTTTAATGCCAC ATAAACACATGCTCATTACCAAGCTGAAAGCTGATTTACATAGCATCACC TCTGAAGCATACAAAGATAAGAAAATTCAAGTGCTCCGAACCTCAGTTTT CTTAACAATAATACGGAAGTAAAATACAGACCTCGCAGGATTTGCTGGGG GGAGATTCCATGAGATGATGTATGTAAAAGACTCTTTGCAATGAAAACCA CAATAGCAAGCTCTTGATCACTTTTAGCTCACACGCTGGGAATCAGCATA GTATTATGGGCAGGAACATGGACTGGAGTCTGTGGATGTGGGTTCAAATC CCAGCTCCACCCAACTGCAATGATCTGAGGCAACACTACCTATGTAGCCT TTCTTAGCCTGAGTCTCCTAAACTGTACAATGAGGATTTTAATGCGTACC TCATAGCTCTAATGATTAAATGATGTAATATGGTGAAATACCACAGTACA GGTAGTAAATTCTCAATACAGCATAACTAGCATCATGTTACTCTTGTCAA ATATTTTGTCTAATATTTCAAGGGAAGGTCAGAAGATGGAGTTCACAATC TACATAATCCACAGAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0046 a0001c0003t0018g0046	1	62	0.0161	-865	c.88+ others(17): Show c.88+87984_88+88848del	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RASA3_chr13_113972783_114137623	114006592	CCCACTCC others(858): Show CCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCT GCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCT TACCCTTCTCCCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCC CACTCCTGCCCTGCTGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGC TGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTA CCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCT CCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGA CGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACC CTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCACTCC TGCCCTGCCGGACACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGA TGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCT TCTCCCCACTCCTGCCCTGCCGGACACCACCTTACCCTTCTCCCCTCCTG CCCTGCCGGACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCC ACCTTACCCTTCTCCCCCCTCCTGCCCTGCCGCCCCCCTCCTGCCCTGCC GGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTAC CCTTCTCCCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCTC CTGCCCTGCTGGACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGAC ACCACCTTACCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0009 a0002c0004t0004 a0002c0004t0009	a0002c0004t0004g0001 a0002c0004t0004g0029 a0002c0004t0009g0010 a0002c0004t0004g0001 a0002c0004t0004g0029 a0002c0004t0009g0010	3	67	0.0448	-865	c.174 others(16): Show c.1742+76_1742+940del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
ADARB2_chr10_1172313_1742525	1238348	CCCCTCTG others(857): Show CCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT TCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTCCC TCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGTCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGG TGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC TGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGATACTCCCCTC TCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGG AGTTTACTCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0028 a0002c0002t0005g0028	1	106	0.0094	-864	c.136 others(19): Show c.1361+2919_1361+3782del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
DOC2B_chr17_137789_186650	166651	GTTCTTGA others(857): Show GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCT TCTTGACGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGGTCTGACACTC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02258.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0113 a0001c0005t0007g0115 a0001c0005t0007g0113 a0001c0005t0007g0115	2	339	0.0059	-864	c.454 others(17): Show c.454-3311_454-2448del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	166707	CGTAGTGA others(857): Show CGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01167.hp1 HG00280.hp2 HG00733.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0267 a0001c0002t0016g0268 a0001c0002t0016g0269 a0001c0002t0016g0267 a0001c0002t0016g0268 a0001c0002t0016g0269	3	339	0.0089	-864	c.454 others(17): Show c.454-3367_454-2504del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	166781	CATGGTCT others(857): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	339	0.0030	-864	c.454 others(17): Show c.454-3441_454-2578del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	167357	CATGGTCT others(857): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02683.hp2 HG02451.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0045 a0001c0001t0010 a0001c0001t0045	a0001c0001t0010g0102 a0001c0001t0045g0118 a0001c0001t0010g0102 a0001c0001t0045g0118	2	339	0.0059	-864	c.454 others(17): Show c.454-4017_454-3154del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
KCNG2_chr18_79792938_79905100	79886329	GTGGGGAC others(857): Show GTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACA TAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGAT GGGAACATAGGGACGTGGGGACAGGGACACGGGACAGGGAGATGGGGATG GGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGAT GGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACA GGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACA CGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACAT GGGGACACAAGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACA GGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGG GGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTG GGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAG GGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGG AACATAGGGACGTGGGGACAGGGACATGGGGACACAAGACAGGGAGATGG GGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGG GAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACG GGACAGGGACATAGGGCCATAGGGACAGGGACATGGGGGCATGAGAGATG CCTAGGGACACGGACAGGGACACGGGGACAGAGGGACAAGGACACAGGGA GGGACACAGGACAGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02818.hp1 HG02055.hp2 HG02109.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0082 a0001c0007t0001g0084 a0001c0007t0001g0296 a0001c0007t0001g0082 a0001c0007t0001g0084 a0001c0007t0001g0296	3	312	0.0096	-864	c.625 others(19): Show c.625-12703_625-11840del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
PLD5_chr1_242077986_242529697	242393430	GTATATAT others(857): Show GTATATATATGAGTATATATATGTGTATATATATGAGTATATATATGTGT ATATATGAGTATATATATGTGTATATATGAGTATATATATATGTGTATAT ATGTGAGTATATATATGTGTATATATATGAGTATATATGTGTATATATAT GAGTATACATATGTGTATATATATGAGCATATATGTGTATATATATGAGT ATATATATGTGTATATATATGAGTATATATGTGTATATATATGAGTATAT ATGTGTATATATATGAGTATATATGTGTGTATATATGAGTATATATGTGT GTATATATGAGTATATATGTGTGTATATGAGTATATAAGTATTTTTAGGC AGGGCCGCAGTGGCTCACGCCTGTATTCTCAGCACTTTGGGAGGCCGAGG CGGGTGGATTACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGG TGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGTGTGGGGGTG CGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTG AACCCGGAAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGAACTCC AGCCTGGATAAGACGACGACTCCATCTCAAAAAAAAACATATATATATAT GAGTATATATATGTATATATGTGTATATATATGAGTATATATATGTGTAT ATATATGAGTATATATATGTGTATATATATGAGTATATATATGTGTATAT ATGAGTATATATGAGTATATATATGTGTATATGAGTATATATATGTGTAT ATATATGAGTATATATATGTGTATATATATGAGTATGAGTATATATATGT GTATATATATGAGTA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG01109.hp2 others(6): Show HG00423.hp1 HG00438.hp1 HG01109.hp2 NA18944.hp2 NA18945.hp1 NA18970.hp1 NA18978.hp1 NA18989.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0034 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0034 a0001c0002t0002 a0001c0002t0009 a0001c0002t0023 a0001c0002t0073 a0001c0002t0075	a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0002g0017 others(6): Show a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0002g0017 a0001c0001t0034g0044 a0001c0002t0002g0107 a0001c0002t0009g0164 a0001c0002t0023g0131 a0001c0002t0073g0168 a0001c0002t0075g0166	9	188	0.0479	-864	c.190 others(19): Show c.190-46052_190-45189del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
RASA3_chr13_113972783_114137623	114085481	GTCCTCGC others(857): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGG GGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTC GCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGT CCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCT TCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACT CCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATC GACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAG TATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	67	0.0149	-864	c.56- others(17): Show c.56-12508_56-11645del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RPS11_chr19_49491434_49504708	49503844	TCACTTTG others(857): Show TCACTTTGGGAGGCCAAGGCAGGTGGATCACGAGTCAGGAGTTCGAAGCC AGCCTGGTCAATATGGTGAAACCCCATCTCTACTAAAAATACAAACATTA GCCAGATGTGTAGCGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATCGCTTGAACCTGGGAGGCAGAGGATGCAGTGAGCCAAGATCA CACCACTGCATTCCAGCCTGGGCGACAGAGTGAGACCCCATCTCAAAAAA AAAAAAAATTTTGCTGGGTCTGTAGTCCCAGCTACTCGGGAGGCTGAAGC AGGAGGATCACTTGAGCCCAGAGGTCCGAGTCTATAGCAGGCTAGGATGA CACCACTGCACTCCAGCCTGGGTGACAGAGTCAGACCCTGTCTCAAAGAA AAAAAAAAGACAGGCATCAAACCTACCGTGTGAAAACAGGGCAGGTCTTG ATTATCTTGTATTGCGGCCCTGCACCTCCTGCAGCAGGTCATGGGTCTGT GATATTAGAGCCGGATGGCCATCATTGCTGCAGCCTCCTGTGGGCTATTA TAATACTAAGTAAGGCCTTGGGCTCCTGTGACAGGCCCTGCTGATATTAC ATGGTTGCAATACTCAGGTTAAATTATAGGCCAGCCCATGGCTACATTTA TAATTATATAATATAAAATATGTGATCGGCCGGACGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCAGGTGGATCACGAGGTCAGGAGATCA AGACCATCCTGGCCAACATGGTGAAACCCCGTCTTTACTAAAAATACAAA ATTTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAAT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02723.hp1 HG02818.hp1 others(2): Show HG02145.hp1 HG02723.hp1 HG02818.hp1 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0025	5	352	0.0142	-864	c.42 others(11): Show c.4210_*5073del	RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding		4137		chr19	TogoVar
RTN4RL1_chr17_1929677_2030334	2009406	AACATGGT others(857): Show AACATGGTGAATCCCATCTCTACTAAAAACACAAAAATTAGCTGGGCGTG GTGGTGTGTGCCTGTAATCTCAGCTACTCGAGAGGCTGAGGTAGGAGAAT TGCTTGAAGCCAGGAGGTGGAGGTTGCAATGAGCCGAGATCACGCCACTG CACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAA AAGGCAGGATTCATGGGAATCAATCTCTGACCTTATACTCAAACTGCAGC CTGGGCCACATAAACAGCTGAGAAAGAGAGGCATCTGACCCCGATGTAAA GGGGGATCCCCAGATCGGCCACTTCTCCTCCTGCCCGCTGCCATAGCTGT TGCCTTGGTCCCTGAACCCCTGGCCAAGTGGCTGATGGACTTGGGACTGA CCGCAAGTTCTGGTACTCTCCAAAGGAATCTCAAACCACTCCACAGGCCA CAACACAGAATGCCGGCCCTGTCCACAGCCCCAGCCACGGAGACAGCCAG GTACTGTAGCAAGCACATGCCTGACGCAGGGCCTTTGCACCTGCTATTGT TCCTTCTGCCAGGAGAGCCCTCCCCAGGGAGAAGCAGCTCTAATGTCTGC AGCGCCCTCCCTCACTCCCTCACTTCGCTTAGGCCTCTGTTCGAATGTCC GTCTATCAGAAAGACTTCTCTGCCAATCTCCTAAAATAACCGCTCTCTGG TCACCCTCTGTTCTTCAACTGTTAATTTTCTTCAAAGCACTTACCCCACC TGATAGAATATAGTTGTTTAGCCAGGCGCGGTAGCTCACGCCTATAATCC CAGCACTTTGGGAGGCCGATGTGGGTAGATCACTTGAGGCCAGGAGTTCA AGACCAGCCTGGCCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(171): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp1 HG01123.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19060.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0010 a0002c0004 a0003c0005 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(88): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0050 a0001c0001t0051 a0001c0001t0084 a0001c0001t0088 a0001c0001t0090 a0001c0001t0098 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0110 a0001c0001t0113 a0001c0001t0116 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0128 a0001c0001t0135 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0019 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0032 a0001c0002t0033 a0001c0002t0034 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0041 a0001c0002t0043 a0001c0002t0044 a0001c0002t0048 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0067 a0001c0002t0070 a0001c0002t0073 a0001c0002t0074 a0001c0002t0075 a0001c0002t0079 a0001c0002t0081 a0001c0002t0082 a0001c0002t0083 a0001c0002t0085 a0001c0002t0108 a0001c0002t0138 a0001c0003t0014 a0001c0003t0018 a0001c0003t0026 a0001c0003t0052 a0001c0003t0130 a0001c0003t0131 a0001c0003t0132 a0001c0003t0133 a0001c0006t0054 a0001c0009t0134 a0001c0010t0010 a0002c0004t0063 a0003c0005t0112 a0003c0008t0114	a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0138 others(171): Show a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0174 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0266 a0001c0001t0002g0094 a0001c0001t0002g0118 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0280 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0211 a0001c0001t0003g0254 a0001c0001t0003g0275 a0001c0001t0003g0286 a0001c0001t0003g0300 a0001c0001t0005g0135 a0001c0001t0005g0258 a0001c0001t0005g0293 a0001c0001t0005g0327 a0001c0001t0005g0363 a0001c0001t0006g0009 a0001c0001t0006g0011 a0001c0001t0006g0035 a0001c0001t0006g0062 a0001c0001t0006g0240 a0001c0001t0006g0247 a0001c0001t0006g0253 a0001c0001t0006g0284 a0001c0001t0008g0092 a0001c0001t0008g0323 a0001c0001t0009g0119 a0001c0001t0009g0121 a0001c0001t0009g0188 a0001c0001t0009g0189 a0001c0001t0009g0191 a0001c0001t0009g0279 a0001c0001t0009g0305 a0001c0001t0011g0080 a0001c0001t0011g0214 a0001c0001t0012g0065 a0001c0001t0012g0137 a0001c0001t0012g0257 a0001c0001t0012g0274 a0001c0001t0013g0089 a0001c0001t0013g0095 a0001c0001t0013g0330 a0001c0001t0014g0238 a0001c0001t0014g0246 a0001c0001t0019g0341 a0001c0001t0020g0123 a0001c0001t0020g0132 a0001c0001t0020g0256 a0001c0001t0021g0360 a0001c0001t0022g0228 a0001c0001t0023g0040 a0001c0001t0023g0296 a0001c0001t0024g0056 a0001c0001t0024g0185 a0001c0001t0024g0343 a0001c0001t0025g0004 a0001c0001t0025g0005 a0001c0001t0025g0217 a0001c0001t0030g0260 a0001c0001t0050g0086 a0001c0001t0051g0145 a0001c0001t0051g0302 a0001c0001t0084g0111 a0001c0001t0088g0150 a0001c0001t0090g0213 a0001c0001t0098g0289 a0001c0001t0101g0146 a0001c0001t0102g0079 a0001c0001t0103g0021 a0001c0001t0104g0139 a0001c0001t0105g0346 a0001c0001t0106g0283 a0001c0001t0110g0250 a0001c0001t0113g0104 a0001c0001t0116g0291 a0001c0001t0118g0071 a0001c0001t0119g0378 a0001c0001t0120g0096 a0001c0001t0121g0101 a0001c0001t0122g0320 a0001c0001t0128g0271 a0001c0001t0135g0331 a0001c0002t0004g0020 a0001c0002t0004g0048 a0001c0002t0004g0093 a0001c0002t0004g0172 a0001c0002t0004g0173 a0001c0002t0004g0192 a0001c0002t0004g0200 a0001c0002t0004g0358 a0001c0002t0007g0153 a0001c0002t0007g0259 a0001c0002t0010g0148 a0001c0002t0010g0152 a0001c0002t0015g0133 a0001c0002t0015g0169 a0001c0002t0015g0325 a0001c0002t0015g0326 a0001c0002t0015g0353 a0001c0002t0016g0344 a0001c0002t0016g0368 a0001c0002t0017g0376 a0001c0002t0019g0190 a0001c0002t0019g0193 a0001c0002t0019g0194 a0001c0002t0027g0099 a0001c0002t0027g0290 a0001c0002t0028g0110 a0001c0002t0028g0324 a0001c0002t0029g0156 a0001c0002t0029g0187 a0001c0002t0032g0149 a0001c0002t0033g0269 a0001c0002t0034g0184 a0001c0002t0034g0237 a0001c0002t0037g0147 a0001c0002t0037g0262 a0001c0002t0038g0088 a0001c0002t0038g0131 a0001c0002t0039g0074 a0001c0002t0039g0075 a0001c0002t0041g0164 a0001c0002t0043g0069 a0001c0002t0043g0244 a0001c0002t0044g0175 a0001c0002t0044g0232 a0001c0002t0048g0014 a0001c0002t0058g0229 a0001c0002t0059g0329 a0001c0002t0060g0310 a0001c0002t0061g0090 a0001c0002t0067g0298 a0001c0002t0070g0287 a0001c0002t0073g0234 a0001c0002t0074g0154 a0001c0002t0075g0224 a0001c0002t0079g0072 a0001c0002t0081g0210 a0001c0002t0082g0285 a0001c0002t0083g0170 a0001c0002t0085g0219 a0001c0002t0108g0163 a0001c0002t0138g0383 a0001c0003t0014g0039 a0001c0003t0014g0041 a0001c0003t0014g0130 a0001c0003t0014g0171 a0001c0003t0018g0052 a0001c0003t0018g0144 a0001c0003t0018g0157 a0001c0003t0018g0307 a0001c0003t0026g0334 a0001c0003t0052g0233 a0001c0003t0130g0365 a0001c0003t0131g0364 a0001c0003t0132g0038 a0001c0003t0133g0270 a0001c0006t0054g0046 a0001c0009t0134g0301 a0001c0010t0010g0322 a0002c0004t0063g0103 a0003c0005t0112g0019 a0003c0008t0114g0181	174	384	0.4531	-864	c.13+ others(17): Show c.13+14583_13+15446del	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
SMYD3_chr1_245744347_246512279	245976113	AGCCCAGG others(857): Show AGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCT CCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT AGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGG CCTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	150	0.0067	-864	c.532 others(19): Show c.532-47040_532-46177del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976160	CGGCCCAG others(857): Show CGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG GCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGC CCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCC AGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAG GGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGG AAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAA AGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAG CCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCC ATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCAT CGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCG TCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTC TCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTC CGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTA GCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGC CTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCT AGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAG GGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGG AAAGCCATCGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	150	0.0067	-864	c.532 others(19): Show c.532-47087_532-46224del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
VAV2_chr9_133756894_133997324	133827203	ATGGGCAT others(857): Show ATGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGG GCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGC ATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCAT CGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCC AGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAG CTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCT ACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTAC CGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCG CTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCT GCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGC GCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGC CCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCC ACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCAC TGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTG GGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAG GCTGACCACTGAGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0015 a0001c0022t0015	a0001c0022t0015g0055 a0001c0022t0015g0055	1	200	0.0050	-864	c.449 others(17): Show c.449+6205_449+7068del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827585	GCACGGGC others(857): Show GCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGT GGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCAC GGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGG GCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGC ATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCAT CACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCG CCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACC ACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCAC CTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCT ACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTAC TGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCG CTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCT GTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGC GCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGC CCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCC ACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCAC TGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTG GGGCTGACCACTGAC	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03540.hp2 HG03017.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0005 a0001c0009 a0002c0005	a0001c0009t0023 a0002c0005t0001 a0001c0009t0023 a0002c0005t0001	a0001c0009t0023g0171 a0002c0005t0001g0129 a0001c0009t0023g0171 a0002c0005t0001g0129	2	200	0.0100	-864	c.449 others(17): Show c.449+5823_449+6686del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
BPIFB2_chr20_33002704_33028703	33006981	TCCTTGGG others(856): Show TCCTTGGGTCCCATCCAGCCAAGGCGGAGGCTGACGTTTGTAATGTGGAA AGAGACCGTGGACTAATCCATTGTGAGTGGAATGTGCATTTGGAGAGAGG CTGGGATGTTAAGCTGTGGGGACAGGTCACGCACACTTTCTCTTCTGTTC CCTTCTGAGTTAGGGCTCAGTTTGTGACTGGGATCAGGGCTCAGCATGTG ATCAGGGTCAGAGCTCAGTAACTGGGGTCAGGACTCAGTGTGTGAATATG TGACAGGGTCAGGGCTCAGTCAATGACTGAGGATGGTGCTCAGGTAGCCT TCTGCCCCTCCTAAAAGGGTCATGTTTCCGAGAGAGCTTGGAGGTACCAG GCTTGAGGGGTCATTGCAGCCATCCCCTTGCCTATGGGAGGGGGGATGGG GTCCTCATGGGCCCCATCCTCCCAGGCCTTGGCTGGGCATGATAAGATAC CCTCCTAGAAGCAGCTTTCCTTCCAGAGATCTCCTGGCCCTCACTAAGGC CATAGCTGCCTAGCCCCAGGGGCTTGTAGTGGTTGGGAGCTGGGCCTGGC TACTGGCTACGTGGCAGCCCCAGCGCACATGTGGGATGAGACACTTTGGC AAAGGCCATGTTTGCAGGGAAAACACTTGCAACCACAAGCAAACTCGCCG CTCCCTGGGTCCCTTCCCAGTGGACTCTGCACATTGGGAGCCTTATAAAG TAGCCTCTGCATCTGCCTGCCTCGGGCAGAGGAGGGCTACCCTGGGGCTG AGAGTTCACCTGTCTCAGGAACCACCTGAGGTAGGCATGGGGCTGGGCTG GTACACCACTTCCAAGGAGGCTTGGCTTCTCTATCTGTTCAGTGGGGATG CTACCTCCAGCCAC	T T	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	388	0.0026	-863	c.-81 others(11): Show c.-813_-35+84del	BPIFB2	ENSG00000078898.7	transcript	ENST00000170150.4	protein_coding	1/16			chr20	TogoVar
FBLN7_chr2_112133385_112193218	112138860	CTGTCCCT others(856): Show CTGTCCCTCCCGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTGTCCCC TGTCCCGCGCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGG CCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTC CAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTC TCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCG CCTCTCTCCAGGCCAGCCAGTGTCCCTCCCGCCTCTCTCCACGCCAGTGT CCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCTCTCCAGGCCA GTGTCCTTCACGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTCTCCAG GCCAGCGTCCCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCT CCAGGCCAGCGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCT CTCTCCAGGTCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCC GCCTCTCTCCAGGCCAGTGTCCCTCACGCCTCTCTCCAGGTCAGTGTCCC TCCCGCCTCTCTCCAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCG TCCCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCC AGCGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCA GGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTC TCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCC TCTCTCCACGCCAG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	346	0.0029	-863	c.75+ others(14): Show c.75+174_75+1036del	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FRMD4A_chr10_13638706_14335924	13675567	AATTTTGT others(856): Show AATTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGG TCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTG CTGGGATTCCAGGTGTAAGCCACCGTGCCCAGCCCTAAAACGTATTTAAA ATGTTATTTTGTTCCCTTAAAAATACTTATTATTTTTGCTTAGTGCAAAG ATAATGTGTGTTTATGATGAAAACCCTGAAAATGTAGACAGGTATAAGAA ATAGTCCATTAACTAATCACCCAGAAATAACCATTGCTATGCATTTTCTT TTGGCCTTTTTTCTAAGTACATATATTTAAAAAATAAAATTAGAATGCTA TTGTATTTTTTAACTTCATGTTTTGTATCATGAGCAAATTCCCTCCTAAT AAAAGTTATACATATTTTAACATACTTTTCCTGGGTAAAACATGATGATT CAAATAGCAGAGTGCTCGATAGGAAACCTTGTGGAAGGCAAACTTCAAAC CAAACCAAAGGAAAATAAGCTGAAATGCCATCTGGAGGAATTTAGGTTAG ACCAAAGGAGTAATTTCTGGGCTGCCAGTGTTTGGATTCTGAAATAACTT TCCTGGAGTGAAGCTATTGTACTTTTTCTACCTTGATGGGTTAGAAAAGG AACACTGACTCTCTACAAAGGGAAAAGCTGATTATAACTTTTCTTTTCTT TTTCTTTTTTTTTTCAGACAGTTTCACTCTTGTTGCCCAGGCTGGAGTGC AGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGAGA TTCTCCTGCCTCAGCCTGCCAAGGTAGCTGGGATTACAGGCACCCGCCAC CACACCCAGCTATT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0075 a0001c0001t0023g0075	1	134	0.0075	-863	c.111 others(18): Show c.1118-1386_1118-524del	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24			chr10	TogoVar
JAK2_chr9_4980272_5134948	5133113	CATATAAA others(856): Show CATATAAAGCACAGAAATACAGTACATAAACAGATATGCAGTGATATTAG AGTGTCATGGTAGAGGAAATTAGGGAAAGATGTCTAAAATGTTCCTGGTG GGAAAGTTGGGGGAGGATAATGCAAAAAAAAAGTTGAGAAACACTACTTT AGAGTGTGCTCATATAGACATAGGTCAAACCAGCACTACCTCAGAAATAA CCTCAATATGATAAGCAGATACGACAGTGTCAGAAAAGCTAAGAGTACTA GATCTTTAAATAAATACTGAGCCAAAAAAAATAGTTTACACATAATCTTT TTAAAAAGTTACCTTATGTCACTCATACAGGAAAGCTCTGGCTGGCATCT AGTGGGTGCCCCTCTGGGATGAAGCTTCCAGAGGAAGGAACAGGCAGCAA TCTTTGCTGTTCTGCAGCCTCTGCTGGTGATACCCAGGCAAACAGCATCT GGAGTGGGCCTCCAGCAAACTCCAGCAGACCTGCAGCACAGGGGCCCGAC TGTTAGAAGGAAAACTAACAAACAGAAAGGAACAGTATCAACATCAACAA AATGTCCACTCAGAGACCCCACCCAAAGGTCACCAACATGAAGACCAAAG GTAGATAAATCCACTAAGATGGGGAGAAACCAGCAAGAAAAGGGTGAAAA TTCCAAATGCCAGAATGCCTCTTTTCCTCCAAAGGATCACAACTCCTCGC TAGCAAGGGAACAAAACTGGACTGAGAATGAGGTTGATGAATTGACAGAA GTAGGCTTCAGAAGGTTGGTAATTACAAACTCCTCTGAGCTAAAGGAACA TGTTCTAACCCAATGCAAGGAAGCTAAGAACACTGAAAAAAGGTTAGACA AATTGCTAACTACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03453.hp2 HG03098.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0207 a0001c0003t0030g0208 a0001c0003t0030g0207 a0001c0003t0030g0208	2	364	0.0055	-863	c.63 others(11): Show c.6323_*7185del	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding		3166		chr9	TogoVar
LUC7L_chr16_183990_234449	186305	GGGGAACA others(856): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02145.hp2 HG01433.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0101 a0001c0001t0001g0103	2	350	0.0057	-863	c.20 others(11): Show c.2030_*2892del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2684		chr16	TogoVar
LUC7L_chr16_183990_234449	186322	GGGGAACA others(856): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18995.hp1 NA18747.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0029 a0001c0001t0001g0031	2	350	0.0057	-863	c.20 others(11): Show c.2013_*2875del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2667		chr16	TogoVar
PPP4R3A_chr14_91452508_91515310	91493186	TGAGACCA others(856): Show TGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTGTACTAAAAATACA AAAATTAGCCGGGCATGGTTGCTGTGAGCTGAGATTGCATCACTGCAATC CAGCCTGGTCAACAGAGACTCTGCCTCAAAAAAAAAAAAGAAAAAGAAAG AAAAAATAAATTAGCTGGATGAGGTAGGGCATGCCTATAATTCTAGCTAC TCAAGAGACAGGCAGGAGGATCTCCTGAGCCCAGAATCTCAAGACTACAG TGAGCCATGATTGCGCCACTACACTCTAGACTGGGTTCTAGACTGGGTGA TAAGAGATCCTGTCTCAAAAAACAAAGGCAAGGTGCAGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGTCGAGATGGGAGGATTGCTTGAGGCTAG CCTGGTCTCATATATAGGATGGTGAGACCCCATACTATATATTTTTAATA TAAAATTTAAAAAAGGTATAAAAATCTCCAACTATCTTTGTAGTCTTTCA TTATTTTAATTACTAGAATAAAAATTGCATTCTATTATTCTCCACGGAAA TCATAAAGTATATAAAGTACATTATGGATCAATATTACTTTTTTTTTTTT TTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAATGTAATGGTGC AATCCCGGCTCACCACAACCTCTGCCTCCTGGGTTCAAGTGATTGTCCTG CCTCAGCCTCCTGAGTAGCTGGGCATGTGCCACCATGCCTGGCTAATTTT GTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGA ATTCCCAACCTCAGATAATCTGCCCGCCTCGGCAGGCAGGTGGGTCACTT GAGGTCAGCAGTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02280.hp2 others(8): Show HG01884.hp2 HG02055.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp2 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 others(8): Show a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336	11	370	0.0297	-863	c.143 others(17): Show c.143-3247_143-2385del	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar
SDHA_chr5_213320_262082	259949	CGCCAGAG others(856): Show CGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTG TGAGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGGC AGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAG CTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAG CATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCC GCCTCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC CCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGT GTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGA CAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGA GCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACA GCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTC CGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCAT TACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCC TCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACC GTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCC GTCACAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGT GAGCTCCGCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	266	0.0038	-863	c.35 others(11): Show c.3530_*4392del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2868		chr5	TogoVar

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