Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LMF1_chr16_848634_975984	953177	ACACCCCA others(619): Show ACACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACC AGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAC GTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCC ACCCCAAACCAGCTTCCTACACGTTCACACAGACACGGACCCCAAACCAG CCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGT TCACACAGACACGGACCCCACACCAGCCTCCTACACGTCCACACAGACAC CCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCC TCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCACAC AGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAA CCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACATGT CCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACAC CCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACC AGCCTCCTACATGTCCACACAGACACC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	294	0.0034	-626	c.503 others(16): Show c.503+554_503+1179del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LRRC27_chr10_132327193_132386508	132352058	GTGTGGGG others(619): Show GTGTGGGGCAGGCGCAGGTGCAGCGCTCCGTGTGGGGCAGATGCTGAGGC CTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGC CTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGC CTCCGTGTGGGGCAGGTGCAGCGCTCGTGGTCTGCAGGGCGTTGCGTGCA TGGGCTCCCTTGTTTGTAGCCCCGAGGCCTCCGGGTGGGGCAGGCGCAGG TGCAGCGCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGTG CAGCGCTCGTGGTCTGCAGGGCGTTGCGTGCATGGGCTCCCTTGTTTGTA GCCCCGAGGCCTCCGTGTGGGGCAGGCGCAGGTGCAGCGCTCCGTGTGGG GCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGG GCAGGCGCAGGTGCAGCGCTCCGTGTGGGGCAGATGCTGAGGCCTCCGTG TGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTG TGGGGCAGGCGCAGGTGCAGCGCTCCGTGTGGGGCAGGCGCTGAGGCCTC CGTGTGGGGCAGGCGCTGAGGCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00741.hp1 HG01106.hp1 others(56): Show HG00597.hp1 HG00741.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01433.hp2 HG01884.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02683.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18947.hp2 NA18951.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA19004.hp2 NA19009.hp2 NA19030.hp2 NA19054.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19085.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0015 a0007c0014 a0001c0001 a0006c0015 a0007c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0050 a0001c0001t0053 a0006c0015t0015 a0007c0014t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(56): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0005g0051 a0001c0001t0005g0053 a0001c0001t0005g0056 a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0023g0059 a0001c0001t0025g0055 a0001c0001t0028g0040 a0001c0001t0029g0052 a0001c0001t0034g0033 a0001c0001t0036g0048 a0001c0001t0038g0057 a0001c0001t0039g0068 a0001c0001t0043g0041 a0001c0001t0050g0075 a0001c0001t0053g0074 a0006c0015t0015g0050 a0007c0014t0001g0037	59	290	0.2035	-626	c.107 others(17): Show c.1073+317_1073+942del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
PCGF3_chr4_700832_775089	744682	CGAGCAGG others(619): Show CGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0059 a0002c0002t0053g0059	1	366	0.0027	-626	c.462 others(14): Show c.462+36_462+661del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744784	GCCGTGGA others(619): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCT	G G	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	366	0.0027	-626	c.462 others(15): Show c.462+150_462+775del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746945	CTCGCCGT others(619): Show CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGC TGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGTCGCTGCAGTGTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0022 a0001c0001t0047g0022	1	366	0.0027	-626	c.462 others(17): Show c.462+2296_462+2921del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
TUBGCP2_chr10_133273635_133313872	133291836	ATGTCCCT others(619): Show ATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAG GGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTC CCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGG GAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTC CGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCG TGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTC CCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCC CCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGT GTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGC AGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGTGTCCCC GTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCG TGTCCCCCATGTCCCTCCGTGTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0025 a0001c0004t0002g0025	1	284	0.0035	-626	c.121 others(16): Show c.1214+37_1214+662del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291853	TGTGTCCC others(619): Show TGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCC GTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGT GTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCAC CCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCC CCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCT CCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTG TACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGT CCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAG CATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGT GTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTG TCCCCCGTGTCCCTCCGTGTCCCCCGTGTCCCCGTGTCCCGGGGAGCCCT ACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCATGTCCCTC CGTGTCCCCGTGTCCCTCCGTGTCCCC	T T	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA20129.hp1 NA18952.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0172 a0001c0001t0001g0139 a0001c0001t0001g0172	2	284	0.0070	-626	c.121 others(16): Show c.1214+20_1214+645del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
ANKRD11_chr16_89262630_89495561	89306103	GCCACCTC others(618): Show GCCACCTCCCACTCCGCAGACACGCCACTTACCTCCCACTCCGCAGACAC GCACCACCTCCCACTCCGCAGACACGCGCCACCTACCTCCCACTCCGCAG ACACGCGCCACCTACCTCCCACTCCGCAGACACGCGCCACCTCCCACTCC GCAGACACGCGCCACTTACCTCCCCCTCCGCAGACACACGCCACCTACCT CCCCCTCCGCAGACACGTGCCACCTCCCACTCCGCAGACACGCGCCACCT ACCTCCCACTCCGCAGACACGCGCCACTTACCTCCCACTCCGCAGACACG CGCCACCTACCTCCCACTCTGCAGACACGCGCCACCTCCCACTCCGCAGA CACGCGCCACCCACCTCCCACTCCGCAGACACGCGCCACCTCCCACTCCG CAGACACGCGCCACCCACCTCCCACTCCGCAGACACGCGCCACTTACCTC CCACTCCGCAGACACGCGCCACCTCCCACTCCGCAGACACGCGCCACCTC CCACTCCGCAGACACGCGCCACCTACCTCCCACTCCGCAGACACGCACCA CCTCCCACTGTGCAGACACGTGCCACCTCCCACTCCGCAGACACGTGCCA CCTCCCACTCCGCAGACACGCGCCAC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0029 a0005c0005t0001g0029	1	310	0.0032	-625	c.88- others(14): Show c.88-1384_88-760del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12						chr16	TogoVar
CROCC2_chr2_240901336_240998311	240908700	CCTCTACC others(618): Show CCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCAGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGCGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGCGTGA GCTCTACCTCCTCCACCTCGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0017 a0017	a0017c0062 a0017c0062	a0017c0062t0001 a0017c0062t0001	a0017c0062t0001g0161 a0017c0062t0001g0161	1	350	0.0029	-625	c.78+ others(15): Show c.78+2127_78+2751del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805676	CCCCTCAG others(618): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCC CTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	314	0.0032	-625	c.15 others(11): Show c.1511_*2135del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1390		chr2	TogoVar
LUC7L_chr16_183990_234449	186543	GGGGAACA others(618): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG03834.hp2 HG00140.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0066 a0001c0001t0001g0077	2	350	0.0057	-625	c.20 others(11): Show c.2030_*2654del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2446		chr16	TogoVar
PCGF3_chr4_700832_775089	745159	GGGGTCGC others(618): Show GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0049 a0002c0002t0007g0049	1	366	0.0027	-625	c.462 others(16): Show c.462+475_462+1099del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745610	CCCGGGGG others(618): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0137 a0001c0003t0005g0137	1	366	0.0027	-625	c.462 others(16): Show c.462+925_462+1549del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745955	CGGGGTCG others(618): Show CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCG GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02895.hp1 HG00621.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0044 a0001c0001t0002 a0001c0001t0044	a0001c0001t0002g0176 a0001c0001t0044g0243 a0001c0001t0002g0176 a0001c0001t0044g0243	2	366	0.0055	-625	c.462 others(17): Show c.462+1349_462+1973del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PHEX_chrX_22027325_22256310	22211138	AGGGTGCA others(618): Show AGGGTGCAAAATTTAGTGGTGAGTTGCAAGGGCAAAGCAAAGCATGTCTC CCACTCATCTGCACTCAATGTCAGGTACATAATTTGGGAAGCCCAGTGCA AAATAAAAATGTGGGGTCTCTTGTTCCAAAAGCAGGAAAAAATGCCATTG AGGGGGCTAAAATATAAAGCCTTGCCCTATCTTTCATGGGCTTTCTCTTT CAACTTGTCATGGTATTGTTTTATTTGCTATTCAGTGCTACTATAAGAAA AATTAAAGACGTAAGTCATTAGCCTGAGTGTTACTTTTCATCTCAATATT GTGCAATGTCAGTTTTAAATGCAAACATAAGAGCATTTAACTTGGATGTG GAATCACCAAAATTACATAGTTTGTATTTTGTAGCTTGTATGTGCGTATG TATTTTGTTCTTACCAGCATGGAGGAAATGCTGAACAAAACTCAACTGTT TTTATTTTACTTCTTAATACATGTACATTCTACCAATACTCTCTACCTTT GGTTTACTGATGAATAAAGAAGGACTAAAAGGAAAAGAATCTATAGGTTA TTGTATAAGTCTGTTCTCACACTGCTAATAAAGACATACCTGAGACTGGG TAATTTATAAAGGTAAGAGGTTTAAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0178 a0001c0001t0026g0178	1	231	0.0043	-625	c.164 others(19): Show c.1646-1763_1646-1139del		PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	15/21					INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF223_chr1_1065967_1079306	1078681	CGGGAGGC others(618): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGA GGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGC CGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGTGGCTGAGGCTATGGGGACTCC	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0008 a0002c0002t0005g0008	1	324	0.0031	-625	c.-53 others(11): Show c.-5300_-4676del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4376		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1237061	TCTGCCTC others(617): Show TCTGCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCC TGCCTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTC CCTCCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCC TCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTC CCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT CACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCC CATCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCC CCTGCCTCCCGGTGTTTACTCCCCC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0046 a0001c0003t0009g0046	1	106	0.0094	-624	c.136 others(19): Show c.1362-3840_1362-3217del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ALLC_chr2_3653200_3707671	3671985	ATTTAGAT others(617): Show ATTTAGATCCGAGGTCCTCTGGCTCTAGTTAGATCCGAGGTCCTCTGGCT CTAGTTAGACCTGTGGTCCTCTGGCTCTGGTTAGATGGGAGGTCCTCTGG CTGTGGTTAGATCGGAGGTCCTCTGGCTCTAGTTAGATTGGAGGTCCTCT GGCTCTGGTTAGATGGGAGGTCCTCTGGGTCTGGTTAGATGGGAGGTCCC CAGGCTCTGATTAGATGGGAGGTCCTCTGGTTCTGGTTAGATAGGAGGTC CTCTGGCTCTGGTTAGATGGGAGGTCCTCTGGCTCTGGTTAGATGGGAGG TCCTCTGGCTCTGGTTAGATCGGAAGTCCTCTGGCTCTGGTTAGATAGGA GGTCCTCTGGCTCTGGTTAGATGGGAGGTCCTCTGGCTCTATTTAGATCC GAGGTCCTCTGGCTCTAGTTAGACCTGTGGTCCTCTGGCTCTGGTTAGAT GGGAGGTCCTCTGGCTCTGGTTAGATCGGAGGTCCTCTGGCTCTAGTTAG ATCGGAGGTCCTCTGGCTCTGGTTAGATGGGAGGTCCTCTGGGTCTGGTT AGATAGGAGGTCCTCTGGTTCTGGTTAGATGGGAGGTCCCCTGGCTCTGG TTAGATGGGAGGTCCTCTGGTTCTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01123.hp1 others(33): Show HG00639.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01258.hp2 HG01515.hp2 HG02004.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03139.hp2 HG03471.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG04228.hp1 NA18906.hp2 NA18960.hp2 NA18983.hp1 NA19043.hp2 NA19070.hp2 NA19074.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0002c0005 others(5): Show a0001c0001 a0002c0002 a0002c0005 a0002c0013 a0003c0003 a0004c0004 a0005c0007 a0006c0006	a0001c0001t0002 a0002c0002t0002 a0002c0005t0002 others(5): Show a0001c0001t0002 a0002c0002t0002 a0002c0005t0002 a0002c0013t0002 a0003c0003t0002 a0004c0004t0002 a0005c0007t0004 a0006c0006t0002	a0001c0001t0002g0118 a0001c0001t0002g0143 a0002c0002t0002g0054 others(33): Show a0001c0001t0002g0118 a0001c0001t0002g0143 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0119 a0002c0002t0002g0137 a0002c0002t0002g0144 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0155 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0172 a0002c0002t0002g0212 a0002c0002t0002g0222 a0002c0005t0002g0012 a0002c0005t0002g0041 a0002c0013t0002g0030 a0003c0003t0002g0016 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0027 a0003c0003t0002g0029 a0003c0003t0002g0042 a0003c0003t0002g0156 a0003c0003t0002g0167 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0179 a0003c0003t0002g0239 a0004c0004t0002g0125 a0005c0007t0004g0253 a0005c0007t0004g0254 a0006c0006t0002g0151	36	274	0.1314	-624	c.33+ others(14): Show c.33+796_33+1419del		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	2/11						chr2	TogoVar
DOC2B_chr17_137789_186650	167645	GATGGTCT others(617): Show GATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTC	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	339	0.0030	-624	c.454 others(17): Show c.454-4065_454-3442del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DPH7_chr9_137549444_137583925	137567430	ACTCTGTC others(617): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGA AGCTCCCCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	340	0.0029	-624	c.641 others(17): Show c.641-2900_641-2277del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
GALNT9_chr12_132191372_132334589	132233434	CAGAGGAG others(617): Show CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGA GGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATG GAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGC CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCC CTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT AGTGCCACACACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0014 a0001c0026t0014	a0001c0026t0014g0052 a0001c0026t0014g0052	1	183	0.0055	-624	c.107 others(21): Show c.1077+13852_1077+14475del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233674	GAGAGGAG others(617): Show GAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTG GAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT AGTGCCACACACTCGATGGGGCGAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00609.hp2 others(26): Show HG00280.hp1 HG00280.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG01167.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02083.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02735.hp1 HG02738.hp2 HG03688.hp2 NA18950.hp1 NA18962.hp2 NA19002.hp1 NA19007.hp2 NA19085.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(7): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0012 a0001c0015 a0001c0018 a0001c0030 a0001c0031 a0001c0038	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0008t0002 a0001c0012t0002 a0001c0015t0001 a0001c0018t0001 a0001c0030t0001 a0001c0031t0001 a0001c0038t0001	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0023 others(26): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0156 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0006t0001g0013 a0001c0008t0002g0171 a0001c0008t0002g0172 a0001c0008t0002g0173 a0001c0012t0002g0180 a0001c0012t0002g0181 a0001c0015t0001g0024 a0001c0018t0001g0039 a0001c0030t0001g0110 a0001c0031t0001g0038 a0001c0038t0001g0046	29	183	0.1585	-624	c.107 others(21): Show c.1077+13612_1077+14235del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GRTP1_chr13_113319163_113369130	113346017	TGAGCAGA others(617): Show TGAGCAGACCTGGGAAGACATCTGTGGCCGAGAGCAGACCCGGGAGGACC TCTGCGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCG GGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGAC AGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTC TGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGCCGAGAGCAGATCCG GGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAG CAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGGACCTCTG TGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGACCTGGGAA GACATCTGTGGCCGAGAACAGACCCAGGAGGACCTCTGTGGACAAGAGCA GACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTG GCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAG GACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGACAGTG GACCCGGGAGGACCTCTGTGGCTGA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0276 a0010c0010t0001g0276	1	288	0.0035	-624	c.466 others(17): Show c.466-1682_466-1059del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346260	AGATCCGG others(617): Show AGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGG CAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGG ACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGAC CTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCTCTGTGGAC AAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGAC CTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGAC CCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCT GACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGAC CTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCC GGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGA GAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCT CTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCC GGGAGGACCTCTGTGCCTGACAGTG	A A	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	288	0.0035	-624	c.466 others(17): Show c.466-1925_466-1302del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346263	TCCGGGAG others(617): Show TCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAG AGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGGACC TCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGACCTG GGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCTCTGTGGACAAG AGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTC TGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCA GGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGAC AGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTC TGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGG AGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAG CGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTG TGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGG AGGACCTCTGTGCCTGACAGTGGAC	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	288	0.0035	-624	c.466 others(17): Show c.466-1928_466-1305del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347118	GCAGACCC others(617): Show GCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCT GTGGCAGAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAGCAGACCCAG GAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGA GCAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGT GGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGA GGACCTCTGAAGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCTGACAGT GGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGATCTCTGT GGCCGAGAGCAGACCTGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGA GCACCTCTGTGGCTGAGCGGATCCGGGAGGACCTCTGTGGCAGAGAGCAG ACCCAGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGG CTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGATCTGGGAGGAC CTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGAC CCGGGAGGACCTCTGTGGCCAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	288	0.0035	-624	c.466 others(17): Show c.466-2783_466-2160del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
HSD17B14_chr19_48808018_48841491	48834944	CCTGGGTC others(617): Show CCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGG GAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGG GGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGATGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCT GAGAAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTG CCAGAGCCTGGACTCCTGGGTCTGAGGGAAGAGGGGCTGGGAGCCTGGAC CCCTGGGTCTGAAGGAGGAGGGGTTGGGGACTTGGATTCCTGGGTCTGAG GGAGGAGGTGCCGGAGCCTGGACTT	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	394	0.0025	-624	c.127 others(15): Show c.127+237_128-587del		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
MAPK8IP3_chr16_1701195_1775351	1737086	GTGTGAGT others(617): Show GTGTGAGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGC ATGTGACCATCCGTGACCGTCCGTGTGAGCATCCGTGTGAGCGTGTGACC GTCCGTGTGAGCGTGTGACCATCCGTGAGAGTGTGACCATCCATGTAAGC ATCCGTGTGACCGTGTGAGCGTCCGTGTGAGCGTGTGAGCGTCCGTGTGA GTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCATCCGT GTGAGCGTGACCGTCCGTGAGTGTGTGACCGTCCGTGTGAGAGTGTGACC ATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCGTCCGTGTGAGTGT GTGAGCGTCCGTGTGAGTGTGACCACCCATGTGAGCATCTGTGTGACCGT CCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTCCGTGTGAGTGTGTGACC ATTCGTGTGAGAGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGT GAGCATCCGTGTGAGCGTGTGACCGTCCGTGTGTGTGACCATCCATGTGA GCATCCGTGTGACTGTCCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTCC GTGTGTGACCATCCATGTGAGCATC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(90): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01884.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02735.hp2 HG02896.hp2 HG02970.hp2 HG03017.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18941.hp2 NA18948.hp1 NA18948.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0003 a0001c0004 others(12): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0001c0020 a0001c0021 a0002c0002 a0002c0013 a0002c0023 a0004c0030 a0006c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0027 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0027 a0001c0003t0003 a0001c0003t0005 a0001c0003t0009 a0001c0003t0014 a0001c0003t0015 a0001c0003t0029 a0001c0004t0004 a0001c0004t0007 a0001c0004t0012 a0001c0004t0026 a0001c0005t0007 a0001c0005t0012 a0001c0006t0003 a0001c0009t0002 a0001c0011t0003 a0001c0012t0004 a0001c0020t0003 a0001c0021t0003 a0002c0002t0001 a0002c0002t0005 a0002c0013t0007 a0002c0023t0001 a0004c0030t0005 a0006c0018t0003	a0001c0001t0002g0285 a0001c0001t0002g0307 a0001c0001t0002g0308 others(89): Show a0001c0001t0002g0285 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0003g0207 a0001c0001t0027g0202 a0001c0003t0003g0006 a0001c0003t0003g0127 a0001c0003t0003g0131 a0001c0003t0003g0180 a0001c0003t0003g0213 a0001c0003t0003g0214 a0001c0003t0003g0228 a0001c0003t0003g0234 a0001c0003t0003g0235 a0001c0003t0003g0237 a0001c0003t0003g0238 a0001c0003t0003g0240 a0001c0003t0003g0241 a0001c0003t0003g0242 a0001c0003t0003g0248 a0001c0003t0003g0249 a0001c0003t0003g0250 a0001c0003t0003g0251 a0001c0003t0003g0252 a0001c0003t0003g0253 a0001c0003t0003g0254 a0001c0003t0003g0262 a0001c0003t0003g0281 a0001c0003t0003g0283 a0001c0003t0003g0289 a0001c0003t0003g0291 a0001c0003t0003g0292 a0001c0003t0003g0293 a0001c0003t0003g0297 a0001c0003t0003g0298 a0001c0003t0003g0302 a0001c0003t0003g0303 a0001c0003t0003g0304 a0001c0003t0005g0010 a0001c0003t0005g0018 a0001c0003t0005g0019 a0001c0003t0009g0287 a0001c0003t0009g0288 a0001c0003t0009g0290 a0001c0003t0009g0322 a0001c0003t0014g0040 a0001c0003t0015g0239 a0001c0003t0029g0257 a0001c0004t0004g0011 a0001c0004t0004g0026 a0001c0004t0004g0027 a0001c0004t0004g0028 a0001c0004t0004g0030 a0001c0004t0004g0034 a0001c0004t0004g0035 a0001c0004t0004g0036 a0001c0004t0004g0159 a0001c0004t0004g0160 a0001c0004t0004g0186 a0001c0004t0004g0256 a0001c0004t0004g0300 a0001c0004t0004g0324 a0001c0004t0007g0016 a0001c0004t0007g0022 a0001c0004t0012g0017 a0001c0004t0012g0033 a0001c0004t0026g0029 a0001c0005t0007g0023 a0001c0005t0012g0009 a0001c0006t0003g0152 a0001c0006t0003g0158 a0001c0006t0003g0286 a0001c0009t0002g0014 a0001c0009t0002g0015 a0001c0009t0002g0020 a0001c0011t0003g0013 a0001c0011t0003g0025 a0001c0012t0004g0031 a0001c0012t0004g0032 a0001c0020t0003g0243 a0001c0021t0003g0258 a0002c0002t0001g0247 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0005g0223 a0002c0002t0005g0263 a0002c0013t0007g0007 a0002c0013t0007g0024 a0002c0023t0001g0246 a0004c0030t0005g0299 a0006c0018t0003g0245	93	330	0.2818	-624	c.603 others(17): Show c.603-6241_603-5618del		MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr16	TogoVar
MLPH_chr2_237482251_237560322	237544523	GGGGGGGA others(617): Show GGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACAT TGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTC AGTGGTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGC ACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAG GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAG TGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGA GTGGGGGCACAGTGGTGAGTGGGGACAGTGGGTGGAGGGGGCACTATTGG TAGGGGGGACAATTATTGGGGGGGGGCACTAATTGTGAGGGGGGACCAGT GTTGAGTGGGGGAATAGTTATGAGT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG04115.hp2 HG03239.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0148 a0002c0002t0002g0085 a0001c0001t0001g0148 a0002c0002t0002g0085	2	286	0.0070	-624	c.153 others(19): Show c.1539+1869_1540-1455del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC4_chr3_195741771_195816929	195783719	CACCTGTG others(617): Show CACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGA CCTGTGGATGCTGAGTAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCTG TGGATGCTGCGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTG GATGCTGAGGAAGGGCTGGTGACATGAAGAGAGGTGGCGTGACGTGTGGA TAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATG CTGAGGGAGTGTCGGTGACAGGTAGAGGGGTGGTGTGACCTGTAGATGCT GAGGAAGGGCTGGTGACAGGAAGACGGGTGGTGTCACCTGTGGATACTGA CGAAGCGTCGGTGACAAGAAGAGGGGTGGTGTGACCTGTGGATACTGAGG AAGTGTCGGTGCCAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAA GTGCTGGTGACAGGAAGAGGGGTGGCATGACCTGTGGATGCCGAGGAAAC GTTGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGC CGGTGACAGGAAGATGGGTGGCGTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03225.hp2 HG03225.hp2	a0105 a0105	a0105c0124 a0105c0124	a0105c0124t0003 a0105c0124t0003	a0105c0124t0003g0116 a0105c0124t0003g0116	1	249	0.0040	-624	c.723 others(9): Show c.7237_7860del	p.His others(15): Show p.His2413_Gly2620del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7972/16756	7237/16239	2413/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195786871	GGAAGAGG others(617): Show GGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGCGTCGGTGACAGG AAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAA GAGGCATGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGA GGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGG AGTGACGTGACCTGTGGATGCTGAGGAAGTGCTAGTGACAGGAAGAGGCG TGGTGTCACCTGTGGATACTGAGGAAGTGTCGGTGACAAGAAGAGAGGTG GCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGT GTGACCTGTGGATGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGT GATCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGCGTGT CCTGTGGATGCTGAGGAAGTGTCGGTGACAAGAAGAGGGGTGGCGTGACC TGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTG TGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTG GATGCTGAGGAAGCATCAGTGACAT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00621.hp2 HG00639.hp1 HG00733.hp2 others(18): Show HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00741.hp2 HG01167.hp2 HG01256.hp1 HG01261.hp1 HG02155.hp2 HG02293.hp1 HG02486.hp2 HG02602.hp1 HG02647.hp1 HG02723.hp2 HG03017.hp1 HG03209.hp1 HG03704.hp1 HG03834.hp2 NA18974.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1	a0007 a0015 a0016 others(14): Show a0007 a0015 a0016 a0029 a0032 a0034 a0035 a0036 a0037 a0065 a0084 a0086 a0088 a0089 a0090 a0091 a0092	a0007c0007 a0015c0023 a0016c0024 others(14): Show a0007c0007 a0015c0023 a0016c0024 a0029c0138 a0032c0134 a0034c0152 a0035c0151 a0036c0150 a0037c0149 a0065c0196 a0084c0187 a0086c0185 a0088c0180 a0089c0182 a0090c0186 a0091c0181 a0092c0183	a0007c0007t0003 a0015c0023t0003 a0016c0024t0003 others(14): Show a0007c0007t0003 a0015c0023t0003 a0016c0024t0003 a0029c0138t0002 a0032c0134t0002 a0034c0152t0014 a0035c0151t0007 a0036c0150t0007 a0037c0149t0006 a0065c0196t0003 a0084c0187t0003 a0086c0185t0003 a0088c0180t0003 a0089c0182t0003 a0090c0186t0003 a0091c0181t0003 a0092c0183t0003	a0007c0007t0003g0152 a0007c0007t0003g0154 a0007c0007t0003g0209 others(18): Show a0007c0007t0003g0152 a0007c0007t0003g0154 a0007c0007t0003g0209 a0015c0023t0003g0210 a0015c0023t0003g0212 a0016c0024t0003g0219 a0016c0024t0003g0221 a0029c0138t0002g0014 a0032c0134t0002g0020 a0034c0152t0014g0185 a0035c0151t0007g0186 a0036c0150t0007g0189 a0037c0149t0006g0079 a0065c0196t0003g0208 a0084c0187t0003g0216 a0086c0185t0003g0217 a0088c0180t0003g0204 a0089c0182t0003g0223 a0090c0186t0003g0220 a0091c0181t0003g0214 a0092c0183t0003g0205	21	249	0.0843	-624	c.408 others(9): Show c.4085_4708del	p.His others(15): Show p.His1362_Leu1569del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	4820/16756	4085/16239	1362/5412			chr3	TogoVar
PARVA_chr11_12372571_12540356	12380178	CTGCAGGA others(617): Show CTGCAGGAAAAAGAAGGCCAATTTAGTTGAGATTTTGAAAATAATTTAGT GAAAGGGCTATTGACAGAGCTGTGGGCAGGGTTAAGGGAACTAAGAAGGG ATGCTGAGGTCCCTAGGGGCTAGCAACAGGAGGAAGCTCTTAATCACTCC GAGGCCTGAGGGACAAGGGAAGCAAATTGGAACCTATTACAAGCTGGGGT TATGGACGAGGGGCTGCTGGACTGGAACTATAGTCATAGAGGGATGCAGC TACTGTCCGAAATATGCAGACAGAGCAAGGAGAGAGTGGCACAATAAATG CACATTCTGCATGTTCTCTGTCTTCTTGCCCGTGCATCACCTACTGGTGC TGAACCCAGTGGGAAGCCATCAGAGCAAGGGATCTGCAATAGATAGGGGC AGCGTCCATAGGGCACAGAGCAGTGCAGAGAATAGATCACAGTGGGGACG GTGGAAATGGAGAATACCTAGCAGATCAACCTGTTACCAGACCCGCTCGA AGTGAGCTCTCCAGAAGTCACCATAGTACAGTTGTAGTGCAAGCCAGCCA CCCCAGATTAGGACTGTCATCTCCCTTATTCTAGCACAGACACAATGTTC TTTTAATGCAGCTAAGGTTGCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02559.hp1 HG02559.hp2 others(9): Show HG01070.hp1 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02738.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0036 a0001c0001t0040 a0001c0001t0042 a0001c0001t0061 a0001c0001t0092 a0001c0002t0009	a0001c0001t0003g0271 a0001c0001t0004g0252 a0001c0001t0008g0246 others(9): Show a0001c0001t0003g0271 a0001c0001t0004g0252 a0001c0001t0008g0246 a0001c0001t0026g0269 a0001c0001t0030g0254 a0001c0001t0032g0253 a0001c0001t0036g0249 a0001c0001t0040g0270 a0001c0001t0042g0251 a0001c0001t0061g0248 a0001c0001t0092g0247 a0001c0002t0009g0250	12	286	0.0420	-624	c.136 others(17): Show c.136+2396_136+3019del		PARVA	ENSG00000197702.14	transcript	ENST00000334956.15	protein_coding	1/12						chr11	TogoVar
PCGF3_chr4_700832_775089	746066	CCCCGGGG others(617): Show CCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	366	0.0027	-624	c.462 others(17): Show c.462+1386_462+2009del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PLCB4_chr20_9064087_9485808	9188842	CTGTGGAG others(617): Show CTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAATTGTTCATT GTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTCATTGT GGAGAGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGG AGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAG GGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGG CTGTCCTATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCT GTCCTATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGT CATATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCC TATAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATA TAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATA GTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATAGT GACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCCTATAGTGA CATTCTGGGTTGGTTAATTGTTCAT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0098 a0002c0002t0002g0098	1	140	0.0071	-624	c.-78 others(19): Show c.-78-28507_-78-27884del		PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39					INFO_REALIGN_3_PRIME	chr20	TogoVar
PRR20A_chr13_57135918_57148939	57148315	ATTTCCCT others(617): Show ATTTCCCTTCATACGCTGAGTGTCCTAAATCTTTTAATCTTGTCTAGTTT GACAGATGCATAACAATAAAGCATCCACTGAAAGGAAATTCTTTAACATC TTGCTTGTCTGAAACATCTTCATTCTCCCCTCCCAGATTCTTCAGCGAAA CTTCGGTTGGACAGGAAATTTTAGGTGGGAAATTCATTTCCCTTGAAATT TCGAAGACATTTTCTGTTATGTTCTAGACTGAACTGCTGCTTTTGAGATG TCTGACTTTTGAGACATGTGGAATCCTAGCCCTTTCCATGTGACTTTTCC TTTCTCTGTCTCCCGCTCTCTAGAATCTGTTAGAATCTTCTCTTTTTCCT CAGCACTCTGAAATTTTCTGGTGAAATGTCTCAGCCACAGCATACCTCTA ATTCTCTTATATTTCATCCTTCTTTCCATCATTTTAGGTTTTTGCTTTGT TCTGTGGGAGACCTTCTCAACTTCATTCTCCAACTTCCGTGGAGAGTTTT GTTTCTTCTCTCACAATTTTAACTTCAGAAATCCCTCTTTTCTCTGAGTA TTTATTTGTAAAAGTATCCTATAACTGCTTGACGGGTGAAGTTCCTTCTG TCTCTCTCTGCTCACGCTCCGCTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	1	330	0.0030	-624	c.53 others(11): Show c.5325_*5948del		PRR20A	ENSG00000204919.1	transcript	ENST00000377931.1	protein_coding					4377		chr13	TogoVar
SMOC2_chr6_168436184_168672992	168560505	TGAGGCTC others(617): Show TGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGA GACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCT GAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACC CTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTG CCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATT TTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCA TTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGT CATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGT GTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAG GTGTCATTTTCATACCCTGAGACAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	180	0.0056	-624	c.637 others(19): Show c.637+11473_637+12096del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561721	TGGAGGAG others(617): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCG TTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG TGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCAC TGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTC ACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAAGGCTC TCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGC TCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAG GCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACA AGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACA CGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGA GACACGAGGCTCTCACTGTGTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG00280.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0080 a0001c0001t0003g0086 a0001c0001t0001g0080 a0001c0001t0003g0086	2	180	0.0111	-624	c.637 others(19): Show c.637+12551_637+13174del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1107981	CCTTGGTA others(617): Show CCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGG AGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTAT GGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGT ATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGG GTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCA GGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTG CAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGG TGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCG GGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACT CGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCA CTCGGGTGCAGGGTATGGAGAGCTG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	190	0.0053	-624	c.325 others(18): Show c.325+9892_325+10515del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM120B_chr12_121707752_121787068	121747270	CTGGGGTA others(617): Show CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTA GAAGGCGGGAGGCTGGGGTAAAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGG GAGGCACTGGGGTAGAAGGTGGGAG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0016 a0001c0001t0026g0016	1	314	0.0032	-624	c.189 others(16): Show c.189-1055_189-432del		TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11						chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129856283	GTAACGGA others(617): Show GTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGG GGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGAT GGGTGCCCTTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAAC GGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTT ATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGG GGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTG CCCTTATAACAGAGTCCGGGGGAGCGGGATGGGTGTAACAGAGTCCGGGG AAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGGATGGGTGC CCTTGTAACGGAGTCCGGGGGAACGGGATGGCTGCCCTTGTAACAGAGTC CGGGGGAACGGGATGGGTGCCCTTA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0086 a0001c0001t0022g0086	1	94	0.0106	-624	c.79+ others(17): Show c.79+46354_79+46977del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129857397	ATAACAGA others(617): Show ATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCAGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGAT GGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTC CAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATG GCTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACA GAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACG GGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTG TAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGG GAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGC CCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTC CGGGGGAACGGGATGGGTGCCCTTG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	94	0.0106	-624	c.79+ others(17): Show c.79+45240_79+45863del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129857617	AAACGGGA others(617): Show AAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGGATGGGTGC CCTTGTAACGGAGTCCGGGGGAACGGGATGGCTGCCCTTGTAACAGAGTC CGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATG GGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACA GAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACG GGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTG TAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGG GAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGC CCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTC CGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATG GGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACA GAGTCCGGGGGAGCGGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGG GTGCCCTTGTAACAGAGTCCAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0055 a0005c0011t0001g0055	1	94	0.0106	-624	c.79+ others(17): Show c.79+45020_79+45643del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129858037	GAACGGGA others(617): Show GAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGC CCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTC CGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGATG GGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCC AGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGG CTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGG GATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGG AACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCC CTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCC GGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCTGGGAAACGGGATGG GTGCCCTTGTAACAGAGTCCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19091.hp1 HG02040.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0001 a0001c0001t0005 a0001c0004t0001	a0001c0001t0005g0037 a0001c0004t0001g0036 a0001c0001t0005g0037 a0001c0004t0001g0036	2	94	0.0213	-624	c.79+ others(17): Show c.79+44600_79+45223del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129858107	GAACGGGA others(617): Show GAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGC CCTTATAACAGAGTCCGGGGGAGCGGGATGGGTGTAACAGAGTCCGGGGA AACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGGATGGGTGCC CTTGTAACGGAGTCCGGGGGAACGGGATGGCTGCCCTTGTAACAGAGTCC GGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGG GTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGG GATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGG AACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAACGGGATGGGTGCC CTTGTAACAGAGTCCTGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCC GGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAACGGGATGG GTGCCCTTGTAACAGAGTCCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0094 a0001c0001t0027g0094	1	94	0.0106	-624	c.79+ others(17): Show c.79+44530_79+45153del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
USP40_chr2_233470526_233571782	233567788	TTAGTTAT others(617): Show TTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACC TTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAA CCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATAT AACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTAT ATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTT ATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAG TTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 NA18906.hp2 HG03516.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0020 a0002c0002t0001g0021	2	324	0.0062	-624	c.-17 others(11): Show c.-1748_-1125del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					1007		chr2	TogoVar
VAV2_chr9_133756894_133997324	133827605	TGCTGTGC others(617): Show TGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCG CTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCT GCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGC GCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGC CCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCC ACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCAC TGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTG GGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGG GCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGC TGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTG ACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGAC CACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCA CTGAGTGGGGGCATCACCACCTACC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0048 a0002c0001t0001g0048	1	200	0.0050	-624	c.449 others(17): Show c.449+6043_449+6666del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827840	CCTACCGC others(617): Show CCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGC TACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGC TGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTG TGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCG CCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCC CACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACT GGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGG GGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGG CTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCT GACCACTGACCACGGGCATCGCCAG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03490.hp1 NA18952.hp2 others(1): Show HG00621.hp2 HG03490.hp1 NA18952.hp2 NA19064.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0105 a0002c0001t0001g0109 a0002c0001t0001g0143 others(1): Show a0002c0001t0001g0105 a0002c0001t0001g0109 a0002c0001t0001g0143 a0002c0001t0001g0164	4	200	0.0200	-624	c.449 others(17): Show c.449+5808_449+6431del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
AGPAT4_chr6_161124967_161279061	161145727	ACCCATGA others(616): Show ACCCATGAGAGCCAGCCCGCATTTATGGAGTTTGAGGAAAAGGTCATCAG AATCCTATAGAATATATCTGATTCTAGGGAATGACTTGTTTGGGTTTAAA ACATATGGTGAATCAGAAATAATTTTTTACTGGTTAATGAGACCTGGCCA TAAAAATGCTTTTCTCACCAAGGGGAAGCTAAGCTTCGCTCCTTCATAAG ATCCAGTAGTTATGAGACTCCCTTCCTTGCATATGCCTTTGGAGGAGAGA AACCAATGAAAGCAAAGGCCTTGCTCAGAGAAAGGACAGAACAAGTAGGG GGACCCTGGAGAACTGGACCACAGACAGGAACAGGACAGGGGGCACCACA GCAGGTTCGAACCCAGCCAAGACCAAGGTGGATCCTTGTAGGGCTTTATC CTGCTTATTCTGGAGATGCTTTGAGATCAGATTGACAACCAAATTGTTGA TCCAGAAGCAATCAAGACCATGTCCATTGCTGCGGAGAACATCCACCCCA CAAGCACATCCTGCCTTAGGACCAGAGGCAGGAAAATACGAGCAGGGGCG ATTGGGGCCATTACTTCTCCCTTGGTCCACTACACCTAGAGAATAGCTTC ATTGTGTGTGTGTGAACCCTCCTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0030 a0001c0001t0055g0030	1	264	0.0038	-623	c.843 others(15): Show c.843+174_843+796del		AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	7/8						chr6	TogoVar
CEP72_chr5_607340_658553	630750	ACCAGTCC others(616): Show ACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGG TGGGGTTCTATCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGT CCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGG ATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAG TCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGG TTCTGTCCAGTGCTGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGCG CCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGG CCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGG TGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGT CCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGG ATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAG TCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGG TTCTATCCAGTGCCGGGATTTGAC	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0020 a0003c0003t0002g0020	1	91	0.0110	-623	c.513 others(17): Show c.513-2993_513-2371del		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT9_chr12_132191372_132334589	132233118	TCCCCTAC others(616): Show TCCCCTACTGCCACACACTCCATGGGGCGACAGGAGACAGCGTGGAGCCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTACTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCAC ACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACAC ACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACAC TCGATGGGGTGACAGAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTC GATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGA TGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATG GCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGG GCGACAGAGGAGACAGCGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01192.hp1 others(3): Show HG00639.hp1 HG01099.hp2 HG01192.hp1 HG02280.hp2 HG03209.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0035 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0090 a0001c0002t0001g0069 a0001c0002t0001g0151	6	183	0.0328	-623	c.107 others(21): Show c.1077+14169_1077+14791del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar

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