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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
NEU4_chr2_241804193_241822413	241805786	TCCCCCCT others(431): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAA GGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18959.hp1 NA18906.hp1 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0002 a0001c0001t0003 a0002c0003t0002	a0001c0001t0003g0196 a0002c0003t0002g0139 a0001c0001t0003g0196 a0002c0003t0002g0139	2	319	0.0063	-438	c.-34 others(11): Show c.-3491_-3054del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3406		chr2	TogoVar
PRKCA_chr17_66297613_66815743	66799107	TGGTGACG others(431): Show TGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGATGGTAATGGTGGTGGTGATGGTGGTGGTAGTGAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0104 a0001c0003t0002g0104	1	178	0.0056	-438	c.185 others(19): Show c.1855-4761_1855-4324del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC7A1_chr13_29504414_29600688	29558652	AGCGGGAG others(431): Show AGCGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTG AATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAGAATGTGAGTGAG GGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAA TGTGAGTGAGGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGTGA GGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGA GGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAGAAT GTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGG GGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAATGAG	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18966.hp1 NA18942.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0001t0001g0169 a0001c0001t0001g0187	2	330	0.0061	-438	c.-11 others(19): Show c.-114-5230_-114-4793del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
TMEM121_chr14_105521583_105535198	105527944	ACGGGCTT others(431): Show ACGGGCTTCCCGAGATTCGAGGGCAGCCACAGGCATCGCCCTGGCGCAGA GGAGCAAAGCAGGGTGGCTCTGCCGGGGCAGAGGGTGGGGGACAACACCT CGCCAAGGCAATGCGGAGCCATGGGGAGCAGGGCAGGCAGTGGCCACGCG CCCAGGATGGTGGACAGGAGGGGAGACCGAGCCTGCCCGTGCAGGGAGGA GGGGCGTGGGGGCTGCCGGGCAGGGGCGGGGAGGCTCGGAGAGGCTTGTG GGACGGATGCATCGGGACCTGGGTGGCTCTCGGTCCGGGATCAGAAAGCC TGGGAGGGCCGAGGCCTCCTTGGGTACTCCAAGAGCGGAGGGGCAGGCCC GCCTCCCTGCCCAGTGCGGCGGCGGGGAGAGGGTATTCCCGGAACTCCGC GGAAACGGCCTGAGGCCAGCAGCGCGGGCGTGGGGTCCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp2 NA20129.hp1 HG02258.hp2 HG02976.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	3	352	0.0085	-438	c.-11 others(17): Show c.-113-777_-113-340del	TMEM121	ENSG00000184986.12	transcript	ENST00000392519.7	protein_coding	1/1			chr14	TogoVar
TRIML1_chr4_188134441_188152743	188152305	AGGGGGTG others(431): Show AGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAG GGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGA GGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAG GGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGG TGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGT GAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAA GGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	228	0.0044	-438	c.49 others(11): Show c.4934_*5371del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4563		chr4	TogoVar
ZNF407_chr18_74592870_75070671	74915978	AGTGTGTG others(431): Show AGTGTGTGTGTGTGTGTGTGCATGTGTGTGCTGGTATGGAGAGGTTGTGT GCAGCATTGGTTCGAATTGGGAGTGTGTGTGTGTGTGCGTGCATGTGTGT GCTGGTATGGTGAGGTTGTGTGCAGCATTGGTTCGAATCGGGAGTGTGTG TGTGTGTGTGTGTGCATGCATGTGTGTGCTGGTATGGTGAGGTTGTATGC AGCATTGGTTCGAATCGGGAGTGTGTGTGTGTATGTGTGTGTGTACATGT GTGTGCTGGTATGGTGAAGTTGTGTGAAGCATTGGTTCGAATCGGGAGTG TGTGTGTGTGTGCATGTGTGTGCTGGTATGGTGAGGTTGTGTGCAGCATT GGTTCGAATCGGGAGTGTGTGTGTGTGTGCGTGCATGTGTGTGCTGGTAT GGTGAGGTTGTGTGCAGTATTGGTTCGAATCGGGAGTGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG03540.hp2 HG02145.hp1 HG02451.hp2 HG03540.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0004 a0003c0005 a0001c0003 a0002c0004 a0003c0005	a0001c0003t0005 a0002c0004t0005 a0003c0005t0001 a0001c0003t0005 a0002c0004t0005 a0003c0005t0001	a0001c0003t0005g0028 a0002c0004t0005g0048 a0003c0005t0001g0086 a0001c0003t0005g0028 a0002c0004t0005g0048 a0003c0005t0001g0086	3	92	0.0326	-438	c.525 others(19): Show c.5250-4522_5250-4085del	ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
AP3D1_chr19_2095988_2156566	2128553	AGCTCCGA others(430): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACT GCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGG AGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCG CCCCCGCCGCTCCAACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01255.hp1 HG01256.hp2 others(6): Show HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01891.hp2 HG02809.hp1 HG02809.hp2 HG03540.hp2 HG03704.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0002g0096 others(6): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0002g0096 a0001c0001t0002g0107 a0001c0002t0001g0264 a0001c0002t0001g0270 a0001c0002t0001g0301 a0001c0002t0001g0322 a0001c0003t0002g0031	9	406	0.0222	-437	c.806 others(15): Show c.806+100_806+536del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
CDH4_chr20_61247261_61945617	61784113	CTGTGCCC others(430): Show CTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCAAG GCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGG ACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAGGAGAATGTAAGCC CAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAG AGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCCGATATC CTGTGCCCCCAGGAGAATGTAATCCCAGTTCCTCGGGACAGTTCTCGAGG CCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGG ACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAGCC CAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	106	0.0094	-437	c.576 others(19): Show c.576+10965_576+11401del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP2_chr8_732628_1713476	1628348	AGCAGGGA others(430): Show AGCAGGGATTAAGAGCTTGAGCCAACCTCACATTCTCTCTGACTTACTGT GGAGCAGGAATTAAGAGCTTGAGCCGACCTCACATTCTGTCTGACTTACT GTGGAGCAGGAATTAAGAGCCTGAGCTGACCTCACATTCTCTCTGACTTA CTGTGGAGCAGGAATTAAGAGCCTGAGCTGACCTCACATTCTGTCTGACT TACTGTGGAGCAGGGATTAAGAGCTTGAGCCGACCTCACATTCTCTCTGA CTTACTGTGGAGCAGGAATTAAGAGCTTGAGCCGACCTCACATTCTGTCT GACTTACTGTGGAGCAGGAATTAAGAGCCTGAGCTGACCTCACATTCTCT CTGACTTACTGTGGAGCAGGAATTAAGAGCCTGAGCTGACCTCACATTCT CTCTGACTTACTGTGGAGCAGGGATTAAGAGCCTGAGC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	-437	c.159 others(19): Show c.1590+1477_1590+1913del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH1_chr8_659200_736224	675598	CGAGGACA others(430): Show CGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAG AGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCC CCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	378	0.0027	-437	c.305 others(17): Show c.305-1988_305-1552del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675707	TGAGGACA others(430): Show TGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGC GCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGC GCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACA GAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAG GACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCG GCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02698.hp2 HG02735.hp1 others(2): Show HG02683.hp1 HG02698.hp2 HG02735.hp1 HG03669.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0002 a0001c0014t0001 a0001c0001t0002 a0001c0014t0001	a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0271 others(2): Show a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0014t0001g0077	5	378	0.0132	-437	c.305 others(17): Show c.305-2097_305-1661del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
GET4_chr7_871554_901436	889962	CGAGCGGG others(430): Show CGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCG AGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTA GGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTC TGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGA GGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGA GCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp2 HG03654.hp2 HG01891.hp2 HG02976.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0037g0213 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0037g0213	3	384	0.0078	-437	c.467 others(15): Show c.467-955_467-519del	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
KIF16B_chr20_16267104_16578448	16270850	ATAAAAAA others(430): Show ATAAAAAATTGTTTAAGTTCCTTAGATTTGTCCAACCGACTGCAAAAGTA TTTATGTTCATGACACTTCAATTTGAATTGCCTAAAGTGGTCAGCTTGGC GTTACTTTGTTATTTGATGACTTGGAAGTAATAAAATATCCATTTGCTAA TTTTCTTTCACTCTTTTAAATTAGTCCAAATCAATGGAGTTTCCATTTGT TATCCTAATTCTGTCATCTGTCTTATCTTCACTCCAGAAAGGAATTCTGT TGTTTAGATGTGACTTTTCATTTGCTTTTCAACTTTCCCTCATGTTTTAT TCAGAATCAGCTGCCTTTAAATCAGATTGGAAGTATGTACTTCACGTACA CATATGAGGGACTGTAATGAGTCCGAATGACATGGTTTATTCCTCTGCTG TAACCATGAGCTGGAATGAAACTCAAGAGACCATCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0015 a0001c0008t0015	a0001c0008t0015g0018 a0001c0008t0015g0018	1	250	0.0040	-437	c.19 others(11): Show c.1966_*2402del	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding		1253		chr20	TogoVar
LAT_chr16_28980052_28995784	28993997	GAGGCTGA others(430): Show GAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTG AGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGGGTGAGACTCT GTCTCAAAAAAAATTCCTGGTTATAAACCTTTGTTAACTCTAGCACATGA GTCAAAGTGGCAGGTACAAGCAGACTTCCGTCAGGGCAGCATTGTAATGA CTGTAGCTGGAGACAGCTTAGACACCCACCGCTTAAGAGCAGACAGAGAA GTCCCAGTGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCCCTTT GGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCC TGGCCAACATAGTGAAACCCAGTATCTACTAAAAATACAAAAATTAGCTG GGCATGGTGGCGAGAGCCTGTAGTCCCAGCTACTCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01884.hp2 HG02055.hp1 others(53): Show HG01106.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03927.hp2 NA18522.hp1 NA18940.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp2 NA18975.hp2 NA18983.hp2 NA18984.hp1 NA18993.hp2 NA19043.hp2 NA19054.hp1 NA19067.hp2 NA19085.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0012 others(8): Show a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0028 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0059 a0001c0001t0003g0006 a0001c0001t0003g0029	56	434	0.1290	-437	c.38 others(11): Show c.3817_*4253del	LAT	ENSG00000213658.13	transcript	ENST00000395456.7	protein_coding		3214		chr16	TogoVar
NOC4L_chr12_132139457_132157468	132148916	CACACCAC others(430): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0206 a0001c0005t0001g0206	1	294	0.0034	-437	c.901 others(14): Show c.901+22_901+458del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
PERM1_chr1_970198_987093	977378	CACCAACC others(430): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACC AACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTC CCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACC CCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGC TCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGG GAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCG ACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTC CCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCA	C C	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0053 a0008c0012t0002g0053	1	408	0.0025	-437	c.214 others(18): Show c.2149+1066_2150-755del	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
RBKS_chr2_27776379_27895387	27836915	ATCAGAGA others(430): Show ATCAGAGAAATGCAAATCAAACTATAATGAGATACCATCTCACACCAGTC AAAACAGCTATTATTAAAAAGTCAAGGGCCAGCCGAGGTGGCTCACACCT GTAATCCCAGCACTTTGGGCGGCCGAGGCAGGCAGATCACGAGGATCGGG AGATTAAGATCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAA TACAAAAATATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCTGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGATAGAGCGAGA CTCCATCTCAAAAAACAAAACAAAACAAAACGAAACAAAAAACAAAAAGT CAAAACACAACAGATGCTGGTGAGGCTGCAGAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03486.hp2 NA20129.hp1 HG03225.hp2 HG03486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156	3	268	0.0112	-437	c.515 others(17): Show c.515-4575_515-4139del	RBKS	ENSG00000171174.15	transcript	ENST00000302188.8	protein_coding	5/7			chr2	TogoVar
RPGRIP1L_chr16_53593153_53708859	53698181	AGAAGTGA others(430): Show AGAAGTGAGGAGCCCCTCCGCCCGGCAGCCACCCCGTCTGGGAAGTGAGG AGCCTCTCCGCCCGGCAGCCGACCCGTCCGGGAGGGAGGTGGGGGGTCAG CCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCGCCCGGCCAGCCGTCCTGTCTGGGAGATGAGGGGCGCCTCTGCCCGGC CACTCCTACTGGGAAGTGAGGGGCCTCTCTGCCCGGCCAGCCGCCCCGTC CAGGAGGGAGGTTGGGGGGTCAGCCTCCCGCCCGGCCAGCCGCCCCGTCT GGGAGGGAGGTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCA GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp2 HG02723.hp2 others(4): Show HG02486.hp2 HG02622.hp2 HG02723.hp2 HG02895.hp2 HG02965.hp1 HG03041.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0088 a0001c0001t0007g0089 others(4): Show a0001c0001t0007g0009 a0001c0001t0007g0088 a0001c0001t0007g0089 a0001c0001t0007g0090 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0093	7	364	0.0192	-437	c.85+ others(15): Show c.85+2021_86-1887del	RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	2/26			chr16	TogoVar
RPTOR_chr17_80539838_80971368	80876051	GGTCTTCA others(430): Show GGTCTTCACACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCACCTGCCGG GTCTTCCACCGAGCCCGTGCTGCCCAGGATGTGTGTGTCACCTGCCGGGT CTTCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGTCT TCCCACCGAACCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGGGTCTT CCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGGGTCTTCA CACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGGGTCTTCCA CCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGTCTTCCCAC CGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGTCTTCCCACC GAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02015.hp2 HG00544.hp2 HG02015.hp2	a0001 a0001	a0001c0019 a0001c0078 a0001c0019 a0001c0078	a0001c0019t0042 a0001c0078t0041 a0001c0019t0042 a0001c0078t0041	a0001c0019t0042g0089 a0001c0078t0041g0100 a0001c0019t0042g0089 a0001c0078t0041g0100	2	196	0.0102	-437	c.151 others(19): Show c.1510-4357_1510-3921del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3RF3_chr2_109124205_109509634	109199332	ATGGAATG others(430): Show ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGATGGAATGGAATGGGATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0040 a0001c0018t0040	a0001c0018t0040g0065 a0001c0018t0040g0065	1	172	0.0058	-437	c.573 others(19): Show c.573+69220_573+69656del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9			chr2	TogoVar
TMC1_chr9_72516608_72843297	72840247	GGGGCGGC others(430): Show GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGACCGGGCGGGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCACCCCTCACC TCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	182	0.0055	-437	c.42 others(11): Show c.4275_*4711del	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding		1951		chr9	TogoVar
TTLL8_chr22_50013575_50063298	50028678	ACTCGTAA others(430): Show ACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTA AAGACCCCATCACACCGTCCTAAAGACCCCCACATACCCTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCCATCA CGCTGTCCTAAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACCA TCCTAAAGACCCCACATACCCTCGTAAAGACCCCCATCACACCGTCCTGA AGACCCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCC CCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACA CCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCATCCTGAAGACCCCACACACC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0126 a0005c0005t0002g0126	1	224	0.0045	-437	c.225 others(19): Show c.2251+1315_2251+1751del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133291919	TCCGTGTC others(430): Show TCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGG GAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCAT GTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTG TCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTC CCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGC ATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTG TCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGT CCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTA CCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02056.hp2 HG02148.hp2 HG00438.hp2 HG02056.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192	3	284	0.0106	-437	c.121 others(17): Show c.1214+143_1214+579del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
WAPL_chr10_86430256_86526792	86454689	CGCCCATC others(430): Show CGCCCATCGTCTGGGATGTGAGGAGGCCCTCTGCCCGGCCGCCCAGCCTG GGAAGTGAGGAGTGCCTCTTCCCAGCCGCCATCCCGTCTGGGAAGTGACG AGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCACCTCTGC CCGGCCGCGACCCCGTCTGGGAACTGAGGAGTGTCTCTGCCCGACCGCCA CCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCACCCCGTCTGAGAA GTGAGGAGCCCCTCCGCCCGGCAGCCGCCCGGTCTGGGAAGTGAGGAGCG TCTCCGCCCGGCAGCCACCCCGTCCGGGAGGTGGGGGGCAGCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGCAGCCCCCGCCCGGCA GCCGCCCCGTCCAGGAGGTGGGGGGGTGCCTCTGCCCG	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	410	0.0024	-437	c.265 others(18): Show c.2658-1295_2658-859del	WAPL	ENSG00000062650.20	transcript	ENST00000298767.10	protein_coding	12/18			chr10	TogoVar
ABR_chr17_998519_1184981	1117304	TCCCTGAG others(429): Show TCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCC CAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGA GTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCT GAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCG TTATCCCTGAGCCGGAGTTCCTCCCAGCATTATCCCTGAACCCGAGTTCC TCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCATTATCCCTGAGCC CGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATC CCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCC AGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG00639.hp1 HG00741.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0005 a0002c0005t0001 a0001c0001t0005 a0002c0005t0001	a0001c0001t0005g0315 a0002c0005t0001g0186 a0001c0001t0005g0315 a0002c0005t0001g0186	2	337	0.0059	-436	c.246 others(17): Show c.246+7443_246+7878del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
AP3D1_chr19_2095988_2156566	2128514	AGCTCCGA others(429): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGG AGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC CCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCT CCAACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0295 a0001c0002t0001g0295	1	406	0.0025	-436	c.806 others(15): Show c.806+140_806+575del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ATP11A_chr13_112685038_112892168	112803982	CCCTCATT others(429): Show CCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCT CTGCCCTCCTTCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCC CATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCC CCCCATCCCCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCAT CCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCC ATCCCCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCC CCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCT CCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02622.hp1 HG01069.hp2 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0022 a0001c0002 a0001c0022	a0001c0002t0001 a0001c0022t0001 a0001c0002t0001 a0001c0022t0001	a0001c0002t0001g0091 a0001c0022t0001g0196 a0001c0002t0001g0091 a0001c0022t0001g0196	2	254	0.0079	-436	c.163 others(15): Show c.163-970_163-535del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
CASTOR2_chr7_74959705_75036528	74968433	AAGCCCTA others(429): Show AAGCCCTAGAGCCTGGTGGAAGAGAAAGAAAGAGGCCATCATTCTACAGC AGGGTGGAGTCAGGGAAGGGCTGGTCTAGCAGGGTACCTAGAACGCCGGG TGCCTACCTGTAGGAGGTGGCACTAGATCTTAGAGCTTTTTTTTGTTTGT TTTTAAGAGATGGGGTCTCTGTTGCCCAGGCTGAAGTACAGTGGCACCAT CATAGCTCACTGCAGCCTCGAACTCCTAGGCTCAAGCAATCCTCTCACCT CGGCCTCCCAAGCACCTGGGACTGCGGGTGCGCACCACCACACTCAGCTA ATTTTTAAATTTCTTGTAGCGATGGGGGTCTCACTGTGTTGCCCGGGCTG GCCTTGAACTCCTGGCCTCACATGATCCTCCCACCTCAGCCTGTCAGAGG TGCGTGCGGACATAACATTTAAACTGTTACAGGCATG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	228	0.0044	-436	c.113 others(17): Show c.113+3339_113+3774del	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC126_chr7_23592382_23649708	23637578	GGCGCCTC others(429): Show GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCTCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG ACCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCAGCCGC CCAGTCCGGGAGGGAGGCGGGGAGGGGGGGGTCGGCCAGCCGCCCTGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01256.hp2 HG01261.hp2 others(26): Show HG01099.hp2 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02300.hp2 HG02523.hp1 HG02698.hp1 HG03654.hp2 HG04115.hp1 NA18952.hp2 NA18953.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18977.hp1 NA18986.hp1 NA18997.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19055.hp1 NA19062.hp1 NA19074.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0018 a0001c0001t0001 a0001c0001t0015 a0001c0001t0018	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(26): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0015g0165 a0001c0001t0018g0111	29	380	0.0763	-436	c.239 others(17): Show c.239-5313_239-4878del	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB1_chr2_207524962_207610988	207540316	GGCTAACG others(429): Show GGCTAACGTGTGAATGTCTTTTTAACAAAAAATTTTAAAAAGTGGCCGGG AATGGTGGCTCACGCCTGTAATCCTAGCACTTGGGGAGGCTGAGTCAGGC GGGTTGCTTGAGCCCAGGAGTTTCAAGCAGCCTGGGCAAAATGGCGAAAT CCTGTCTCTACAGAGAATACAAAAATTAATTAACTGGGCTTGGTGGTGCA TGCCTGTAATCCCTGCTACTCACGAGGCCAAGGCAGGAGAACCCAAGAGG CAGAGATTGCAGTGAGCTGATACTGTGCCACTGCACTCCAGCCTGGGTGA CATAGTGAGACCCTGTGTCAAAAAAATAAAGTTTAACAAAAAAGTTTAAA AAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAACCTTAGATTC TTTTATTGCTTTACTTTATTACTAAATTTGCTTTCAC	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0115 a0001c0001t0014g0115	1	308	0.0033	-436	c.-9+ others(17): Show c.-9+10183_-9+10618del	CREB1	ENSG00000118260.15	transcript	ENST00000353267.8	protein_coding	1/7			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923889	TCCCCACA others(429): Show TCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCA GTCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCC GGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTA ACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCA CACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCGGC CCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCA GTCCCCACACTAACCCAGCCCCCCACACTAACCCGGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	350	0.0029	-436	c.488 others(17): Show c.488+1259_489-1385del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924149	GCCCCCAC others(429): Show GCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTA ACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACAC TAACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCAA CACTAACCCAGCCCCCACACTAACCCGGTCCCCACACTGACCCAGTCCCC ACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCC CACACTAACCCAGCCCCCAACACTAACCCGGCCCCCCACACTAACCCAGT CCCCACACTATCCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAG CCCCCAACACTAACCCAGCCCCCCACACTAACCCGGC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0051 a0051	a0051c0071 a0051c0071	a0051c0071t0001 a0051c0071t0001	a0051c0071t0001g0170 a0051c0071t0001g0170	1	350	0.0029	-436	c.489 others(17): Show c.489-1539_489-1104del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPH7_chr9_137549444_137583925	137565812	TCTGTCTG others(429): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	340	0.0029	-436	c.641 others(16): Show c.641-1094_641-659del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERICH1_chr8_659200_736224	675624	GTGAGGAC others(429): Show GTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGAC AGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGA GGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCT CGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	378	0.0027	-436	c.305 others(17): Show c.305-2013_305-1578del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC3L4_chr14_103089725_103115559	103109179	CCCTCTCT others(429): Show CCCTCTCTCCCTCGCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTC TCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCC CATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCC TCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCA CCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTC CCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGT CCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCC TCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19064.hp1 NA18983.hp1 NA19064.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0103 a0001c0003t0002g0104 a0001c0003t0002g0103 a0001c0003t0002g0104	2	404	0.0050	-436	c.197 others(17): Show c.1976+667_1977-412del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241807175	ACCTTCCC others(429): Show ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTT CCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	314	0.0032	-436	c.30 others(11): Show c.3010_*3445del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2889		chr2	TogoVar
GFOD1_chr6_13352830_13492600	13469261	ACTCGCCT others(429): Show ACTCGCCTTTTATATCTTATCCATACAAGAGTTTGCCATTTATTTTAGCC TCTTCAAAAATAAGTTATAATCAACAGAGAAGTGAAGATCATGAAATAAC ATTTTCTCAATTTTTTAACATCCTGTGGGATACATGCAGTCCCCAGGCTA TTGTCTCCTCAGTTATGGAATTAGATGATGCAAGTTCCAGTTCAGTCACC ATTTCCCCGTTTCTATACTTTGTCAATAAAAATGATATGGCCTTTGTTCA TACAGACCATTGATACTGCAGCACATTATACTGGAAAACACATAAGCTTT GGAGTCAAGCAAACTTAAGTTGAATTCTGATTCCACTTGTTCTTAGCCAT GTACACTTGCCAAAATACCATATTTCACATAATCTAAGACACTACTGCAA AGACCTACAGTTATCTTACTACCAAGAAAGAAAAGCC	A A	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0153 a0001c0001t0103g0153	1	230	0.0044	-436	c.253 others(19): Show c.253+16941_253+17376del	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
NEU4_chr2_241804193_241822413	241807175	ACCTTCCC others(429): Show ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTT CCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	319	0.0031	-436	c.-21 others(11): Show c.-2102_-1667del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2017		chr2	TogoVar
OR4F5_chr1_60419_76585	67897	GAGTTAAA others(429): Show GAGTTAAAGCCATCACAATGTTCCCAATTACTTAAAGACATTGGAATAAC ATTTTTTTTATTTTCCACATCTTGCCAAAAAATATTTTGTTATCAGTACC TTAATAATGGCTATTATATATTGACCATTACTATTTGCTAGAAAATTTAT ATACCTGGTCGTATCCAATCCTCACAGAACTTCTATAAAGTTGTGCTATT ATCACCTATATTTTCCAGATGTGGCCGTAAGACTGAAATCACTTAGGTGA CTTGTCTAAGGTCATTCAGATACATAGTAGATAACCCAGGATTTGAACAC AGGCCTCCTAGCACACAAGCTCATATCTTAACTACTTTAATACGTTGCTC GATGGGATCTTACAGGTCTTCATTCACCCCTTTCCTGCTCACACAACCAC AACCTGCAGCTATTACCTATTGTTAGGCTTAAAATAA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0015 a0003c0013t0015	a0003c0013t0015g0046 a0003c0013t0015g0046	1	215	0.0047	-436	c.10- others(14): Show c.10-1139_10-704del	OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2			chr1	TogoVar
PLTP_chr20_45893622_45917155	45906708	CGGTGAAA others(429): Show CGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGGCATGGTG GTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGC TTGATCCTGGGAGGTGGAGGTTGCAGGGAGCCAGGATTGCACCACTGCAC TCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAA AAAAAGATGGCATGAGGTTCCTTTCCCTTGGTTTCTCCTACCTCCTCCTT CGCTTCCCATGCCTGTGTGTTAGGTGTGATGGGAAAATACCTTTGCCCCA CAGTAGACAGAGGTCATGGCTTAGAAAAAGGGAATTCATGGCCAGGCACA GTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGAT CAGGAGGTCAGGAGATCGAGACCATCCCGGCCAACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00639.hp1 others(37): Show HG00099.hp1 HG00280.hp2 HG00639.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01255.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02735.hp1 HG02886.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA19030.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0006c0012t0001 a0001c0001t0001 a0006c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0039 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0180 a0006c0012t0001g0181	40	432	0.0926	-436	c.613 others(15): Show c.613+548_614-350del	PLTP	ENSG00000100979.15	transcript	ENST00000372431.8	protein_coding	7/15			chr20	TogoVar
RPTOR_chr17_80539838_80971368	80748543	ACCTGTTG others(429): Show ACCTGTTGGGTGGATGGAGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCG GGAGGACCTGTTGGATGGAGGGACTGTGGTGTGTGTTTAGAGGCCGTGGC GAGAGGACCTGTTGGGTGGATGGAGGGACTGCGGTGTGTGTTTAGAGGCT GTGGCGGGAGGACCTGTTGGGTGGATGGAGGGGCTGCGGTGTGTGTTTGG AGGCCGTGGCGGGAGGACCTGTTGGGTGGATGGAGGGGCTGCGGTGTGTG TTTAGAGGCCGTGGCGGGAGGACCTGTTGGGTGGATGGAGGGGCTGCGGT GTGTGTTTGGAGGCCGTGGCGGGAGGACCTGTTGGGTGGATGGAGGGGCT GCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGGCCTGTTGGGTGGATGGAG GGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG03490.hp1 others(2): Show HG02723.hp1 HG02809.hp1 HG03490.hp1 HG03491.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0012 a0001c0020 others(1): Show a0001c0003 a0001c0012 a0001c0020 a0001c0034	a0001c0003t0001 a0001c0012t0003 a0001c0020t0064 others(1): Show a0001c0003t0001 a0001c0012t0003 a0001c0020t0064 a0001c0034t0004	a0001c0003t0001g0182 a0001c0003t0001g0186 a0001c0012t0003g0189 others(2): Show a0001c0003t0001g0182 a0001c0003t0001g0186 a0001c0012t0003g0189 a0001c0020t0064g0190 a0001c0034t0004g0187	5	196	0.0255	-436	c.655 others(17): Show c.655-5391_655-4956del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
ZNF407_chr18_74592870_75070671	74915711	GTGTGTGT others(429): Show GTGTGTGTGTGCTGGTATGGTGAGGTTGTATGCAGCATTGGTTCGAATCG GGAGTGTGTGTGTGTATGTGTGTGTGTACATGTGTGTGCTGGTATGGTGA AGTTGTGTGAAGCATTGGTTCGAATCGGGAGTGTGTGGGTGTGTGCATGT GTGTGCTGGTATGGTGAGGTTGTGTGCAGCATTGGTTCGAATCGGGAGTG TGTGTGTGTGTGCGTGCATGTGTGTGCTGGTATGGTGAGGTTGTGTGCAG TATTGGTTCGAATCGGGAGTGTGTGTGTGTGTGTGTGCATGTGTGTGCTG GTATGGAGAGGTTGTGTGCAGCATTGGTTCGAATTGGGAGTGTGTGTGTG TGTGCGTGCATGTGTGTGCTGGTATGGTGAGGTTGTGTGCAGCATTGGTT CGAATCGGGAGTGTGTGTGTGTGTGTGTGTGCATGCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18906.hp2 HG01243.hp1 NA18906.hp2	a0001 a0001	a0001c0014 a0001c0025 a0001c0014 a0001c0025	a0001c0014t0004 a0001c0025t0001 a0001c0014t0004 a0001c0025t0001	a0001c0014t0004g0024 a0001c0025t0001g0071 a0001c0014t0004g0024 a0001c0025t0001g0071	2	92	0.0217	-436	c.525 others(19): Show c.5250-4794_5250-4359del	ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
ADARB2_chr10_1172313_1742525	1541945	GCAGTTCA others(428): Show GCAGTTCAGACCCTGGATCACAGCCGTCCAGACTCCACTCAGACGTAGTT CAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACTCAGTTCAGACC CTGGATCCGTCCAGACCCCACTCACACTCAGTTCAGACCCTGGATCACAG CCGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCC AGACCCCACTCAGACGTAGTTCAGACCCTGGATCACAGCCGCCCAGACCA CACTCAGATATAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCA GACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCGCACTCAGATGTA GTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAG ACCCTGGATCACAGCCGTCCAGACTCCACTCAGACT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	106	0.0094	-435	c.101 others(21): Show c.101-163220_101-162786del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AP3D1_chr19_2095988_2156566	2128442	GCACTGCA others(428): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCG CCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGAC ACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC GCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACT GCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGA	G G	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18979.hp2 NA19074.hp1 others(1): Show NA18956.hp2 NA18979.hp2 NA19074.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0001g0159 others(1): Show a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0172	4	406	0.0099	-435	c.806 others(15): Show c.806+213_806+647del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128481	GACACTGC others(428): Show GACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCC GCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGAC ACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCC GTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA GCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG04184.hp1 NA18957.hp2 others(1): Show HG03471.hp1 HG04184.hp1 NA18957.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0009 a0001c0001 a0001c0008 a0002c0009	a0001c0001t0001 a0001c0008t0011 a0002c0009t0002 a0001c0001t0001 a0001c0008t0011 a0002c0009t0002	a0001c0001t0001g0174 a0001c0001t0001g0337 a0001c0008t0011g0398 others(1): Show a0001c0001t0001g0174 a0001c0001t0001g0337 a0001c0008t0011g0398 a0002c0009t0002g0276	4	406	0.0099	-435	c.806 others(15): Show c.806+174_806+608del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGEF10_chr8_1818926_1963641	1888908	TTGTGAGG others(428): Show TTGTGAGGAGACAGTGGGGTGAGGGGTCTGTGACGAGACACTGAGTGGGG TGAGGGGTCTGCGAGGAGACACTGAGGTGTGAGGGGTCTACAAGGAGTCA CGGAGTGCAGTGAGAGTTGTGAGGAAACATGGAGTGGGGTGCGGGTCATG AGGAGACAGTGATTGGGGTGAGGGGTCCGTGAGGAGACACTGAGTGGGGT GTGAGGGGTCTGTGAGGAGACACTGTGAGTGGGGTGAGGGTTGTGAGGAG ACGCTGAGTTGGGGGGTTGTGAGGAGAGCGTGGGGTGAGGTTTATTAGGA GACACTGAATGGGGTGAGGGTTGTGAGGAGACATTGAGTGGGATGAGAGG TGTGAGGAGACACTGAATGTGGTGAGGGTTTGTGAGGAGATACTGCATGG GGTGAGCTTTCTTAGGAGACACTGAGTGGGTAAGAG	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19030.hp1 NA19065.hp1 others(2): Show HG04115.hp2 NA19030.hp1 NA19065.hp1 NA19081.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0012 others(1): Show a0001c0002 a0001c0003 a0001c0012 a0001c0037	a0001c0002t0001 a0001c0003t0063 a0001c0012t0001 others(2): Show a0001c0002t0001 a0001c0003t0063 a0001c0012t0001 a0001c0037t0005 a0001c0037t0008	a0001c0002t0001g0274 a0001c0003t0063g0089 a0001c0012t0001g0031 others(2): Show a0001c0002t0001g0274 a0001c0003t0063g0089 a0001c0012t0001g0031 a0001c0037t0005g0308 a0001c0037t0008g0309	5	363	0.0138	-435	c.118 others(19): Show c.1182+3203_1182+3637del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049166	GGGGCAGA others(428): Show GGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGA GGAGAACACATGGGGGCAGAGGGGAACATATGGGGGGCAGAGGGGAACAC ATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGGC AGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAA CACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGG GGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGG AGAACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACAT GGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGAATACATGGGGGGCAGAGGGGAACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00621.hp1 others(37): Show HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02523.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp2 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18940.hp1 NA18944.hp1 NA18950.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18975.hp2 NA18985.hp1 NA18990.hp1 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19074.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0002t0003 a0002c0002t0015 others(4): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0015 a0002c0002t0016 a0002c0002t0020 a0002c0002t0023 a0002c0003t0001	a0002c0002t0001g0137 a0002c0002t0003g0059 a0002c0002t0003g0065 others(37): Show a0002c0002t0001g0137 a0002c0002t0003g0059 a0002c0002t0003g0065 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0127 a0002c0002t0003g0128 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0152 a0002c0002t0003g0237 a0002c0002t0003g0238 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0259 a0002c0002t0003g0262 a0002c0002t0003g0264 a0002c0002t0003g0284 a0002c0002t0015g0239 a0002c0002t0016g0132 a0002c0002t0016g0133 a0002c0002t0020g0299 a0002c0002t0020g0300 a0002c0002t0023g0124 a0002c0003t0001g0029	40	308	0.1299	-435	c.51 others(11): Show c.5130_*5564del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2937		chr8	TogoVar
ATP11A_chr13_112685038_112892168	112766828	GATGTGGG others(428): Show GATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAG TGCTGGGAGCCCCTGTGGAAAGGTGGGGAGATGTGGGGGTGTTGGGGGCC CCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGCCCCCGTGGAAA GGTGGGGAGGATGTAGGGGTGTTGGGGGCCACTGTGGGAAGGTGGGGAGG ATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTG TTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGCCC CCGTGGAAAGGTGGGGAGGATGTAGGGGTATCGGGGGCCCCTGTAGGAAG GTAGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGAT GTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp2 HG03516.hp2 HG01891.hp2 HG02965.hp2 HG03516.hp2	a0001 a0001	a0001c0017 a0001c0021 a0001c0017 a0001c0021	a0001c0017t0058 a0001c0021t0024 a0001c0017t0058 a0001c0021t0024	a0001c0017t0058g0053 a0001c0021t0024g0047 a0001c0021t0024g0048 a0001c0017t0058g0053 a0001c0021t0024g0047 a0001c0021t0024g0048	3	254	0.0118	-435	c.40- others(17): Show c.40-18306_40-17872del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29			chr13	TogoVar
CSMD1_chr8_2930361_4999914	3795288	TCATGTAC others(428): Show TCATGTACAGATATATATATCTATCATGTACAGATATAGATATCTATCAT GTAGATATAGATATATATCTATCATGTATATAGATATATATCATGTATAG ATATAGATATCTATCATAGATATAGATATATATCTATCATAGATATAGAT ATATATCTATCATAGATATAGATATATATCTATCATAGATATAGATATAT ATCTATCATAGATATAGATATATATCTATCATAGATATAGATATATATCT ATCATAGATATAGATATATATCTATCATAGATATAGATATATATCTATCA TAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATGTA TAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATGTA TAGATATAGATATATATCTATCAAGTACAGCTATAG	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19043.hp1 NA19074.hp2 NA18979.hp2 NA19043.hp1 NA19074.hp2	a0001 a0001	a0001c0080 a0001c0090 a0001c0093 a0001c0080 a0001c0090 a0001c0093	a0001c0080t0040 a0001c0090t0001 a0001c0093t0009 a0001c0080t0040 a0001c0090t0001 a0001c0093t0009	a0001c0080t0040g0025 a0001c0090t0001g0027 a0001c0093t0009g0007 a0001c0080t0040g0025 a0001c0090t0001g0027 a0001c0093t0009g0007	3	126	0.0238	-435	c.819 others(19): Show c.819-41681_819-41247del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
EXOC3L4_chr14_103089725_103115559	103109216	CCCTCCCT others(428): Show CCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTC TCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCC CATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCAC CCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTC TCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCC CTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGC CCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 HG00738.hp1 others(19): Show HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01261.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02080.hp2 HG02148.hp1 HG02148.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18982.hp1 NA18999.hp2 NA19055.hp1 NA19074.hp1	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0018 a0034	a0002c0006 a0003c0001 a0005c0004 others(3): Show a0002c0006 a0003c0001 a0005c0004 a0005c0008 a0018c0031 a0034c0058	a0002c0006t0001 a0002c0006t0002 a0003c0001t0003 others(7): Show a0002c0006t0001 a0002c0006t0002 a0003c0001t0003 a0005c0004t0001 a0005c0004t0002 a0005c0004t0003 a0005c0008t0001 a0005c0008t0003 a0018c0031t0003 a0034c0058t0003	a0002c0006t0001g0277 a0002c0006t0002g0272 a0003c0001t0003g0110 others(14): Show a0002c0006t0001g0277 a0002c0006t0002g0272 a0003c0001t0003g0110 a0005c0004t0001g0001 a0005c0004t0001g0229 a0005c0004t0001g0231 a0005c0004t0002g0008 a0005c0004t0002g0220 a0005c0004t0003g0008 a0005c0004t0003g0022 a0005c0004t0003g0233 a0005c0008t0001g0001 a0005c0008t0001g0223 a0005c0008t0003g0001 a0018c0031t0003g0022 a0018c0031t0003g0237 a0034c0058t0003g0008	22	404	0.0545	-435	c.197 others(17): Show c.1976+721_1977-359del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar

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