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	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
TNK2_chr3_195858364_195913551	195874801	TCCCCTCG others(526): Show TCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCT CGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGA TGGCGCCCACGCACGCTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGC CCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGC ACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCT CGGAGGCACAGGAAGCTCCCCCTCGGGATGGCGCCCACGCACACTCCGAG GCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAA GAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACT CCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCCT CGGGATGGCGCCCACGCACGCTCCGAGGCACACGAAGCTCCCCTCGGGAT GGCGCCCACGCACGCTCCGAGGCACAAGAAACTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01361.hp2 HG01891.hp1 others(33): Show HG00323.hp2 HG01361.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp1 NA18906.hp1 NA19002.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0013 others(4): Show a0001c0001 a0001c0002 a0001c0013 a0002c0027 a0006c0025 a0007c0021 a0008c0016	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0013t0001 a0002c0027t0001 a0006c0025t0001 a0007c0021t0001 a0008c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0111 a0001c0001t0001g0112 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0007g0232 a0001c0002t0001g0003 a0001c0002t0001g0101 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0013t0001g0119 a0001c0013t0001g0120 a0001c0013t0001g0121 a0002c0027t0001g0114 a0002c0027t0001g0117 a0006c0025t0001g0216 a0007c0021t0001g0113 a0007c0021t0001g0115 a0007c0021t0001g0118 a0008c0016t0001g0004 a0008c0016t0001g0224	36	372	0.0968	-533	c.125 others(19): Show c.1257-2864_1257-2332del		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15						chr3	TogoVar
TPO_chr2_1408463_1548673	1444635	TGGGGCAG others(526): Show TGGGGCAGGCTCCTTCTTGTTTGTATGATCCAATCACTGCTGCAGGAGGC ACCATGTTGGAAGGGAATGGGCAGGCTCCTTCCTGTTTGTATGATCCAGT CATTGCTGCAGGAGGCACTGTGTTGGAAGGGAATGAGCAGGCTCCTTCTT GTTTGTATGATCCAGTCATTGCTGCAGGAGGTACCCTGTTGGAAGGTAAT GGGCAGGCTCCTTCTTGTTTGTATGATCCAGTCATTGCTGCAGGAGGCAC CATGCTGGAAGGGAATGGGCAGGCTCCTTCTTGTTTGTATGATCCAGTCA TTGCTGCAGGAGGTACCATGTTGGAAGGGAATGGGGCAGGCTCCTTCTTG TTTGTATGATCCAGTCATTGCTGCAGGAGGTACCATGTTGGAAGGGAATG GAGCTGGCTCCTTCTTGTTTGTATGATGCAGTCATTGCTGCAGGAGGTAC TGTGTTGGAAGGGAATGGGGCAGGCTCCTTCTTGTTTGTATGATCCAGTC ATTGCTGCAGGAGGCACCATGTTGGAAGGAAATG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	130	0.0077	-533	c.482 others(17): Show c.482+8255_483-8523del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
B4GALNT4_chr11_364499_387117	384901	ACACAGCT others(525): Show ACACAGCTGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGC AAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCC CAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAAC CCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGG GCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACT CCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGA ACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCC GGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCA CTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTG GAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAG CCGGGCAAGACCCACTCCCAGGCCTGGAACCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA19007.hp2 NA19012.hp2 others(1): Show HG00438.hp2 NA19007.hp2 NA19012.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0007t0001 a0002c0002t0001 a0002c0007t0001	a0002c0002t0001g0119 a0002c0002t0001g0123 a0002c0002t0001g0127 others(1): Show a0002c0002t0001g0119 a0002c0002t0001g0123 a0002c0002t0001g0127 a0002c0007t0001g0058	4	184	0.0217	-532	c.31 others(11): Show c.3110_*3641del		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding					2785		chr11	TogoVar
C1orf174_chr1_3884133_3905272	3888429	CCCAATGG others(525): Show CCCAATGGCTTGTCTCCACTGCCCTGGGCGAGAACACACGGTGAGGTGCT CCCTGACGCCGCTGGGGCTGGGGAATGCAGTTCTCGTCAGGCAGCTGCAC ACGGACCTCTCTATGGCCTGGAGGAGAGCATGGCCTTCGCTGGATGGCTG ACCGTCTCCACCACACAGGATAGGAAAGCCCGACACTTCTGCAGCAAAGT GGGAGTGGAAGTACACTCGAGAGAAGGGAAGAGGCCCTGTCCCGGGGGCC TCGGTGGTTAACAGGTCTAAAAGATGGACCCGTGCCGGGCGTAGTGGCTC ACGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCAGGCGGATCACCTGA GGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTA CTAAAAATACGAAAAATTAGCCAGGCATGGTGGTACATGCCTGTAATCCC AGCTACCTGGGAGGCTGAGCCTGGAGAATCGCTTGAACCCGGGAGGCAGA GGTTGCAGTGAGCCGAGATTGTGCCACTGCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0155 a0001c0001t0004g0155	1	440	0.0023	-532	c.99 others(10): Show c.999_*1530del		C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding					703		chr1	TogoVar
CTDP1_chr18_79674803_79759503	79745262	TGCGTCCC others(525): Show TGCGTCCCTCCCGTGCGCGTTCTGTCCCTGCGTCCCTCCCGTGCGCGTTC TGTCCCTGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGC GCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTC CCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCG TCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTC CCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCGT TCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGT GCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCC TCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCG CGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTG TCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0087	1	378	0.0027	-532	c.274 others(19): Show c.2748-8362_2748-7831del		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
DFFB_chr1_3852476_3890429	3888429	CCCAATGG others(525): Show CCCAATGGCTTGTCTCCACTGCCCTGGGCGAGAACACACGGTGAGGTGCT CCCTGACGCCGCTGGGGCTGGGGAATGCAGTTCTCGTCAGGCAGCTGCAC ACGGACCTCTCTATGGCCTGGAGGAGAGCATGGCCTTCGCTGGATGGCTG ACCGTCTCCACCACACAGGATAGGAAAGCCCGACACTTCTGCAGCAAAGT GGGAGTGGAAGTACACTCGAGAGAAGGGAAGAGGCCCTGTCCCGGGGGCC TCGGTGGTTAACAGGTCTAAAAGATGGACCCGTGCCGGGCGTAGTGGCTC ACGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCAGGCGGATCACCTGA GGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTA CTAAAAATACGAAAAATTAGCCAGGCATGGTGGTACATGCCTGTAATCCC AGCTACCTGGGAGGCTGAGCCTGGAGAATCGCTTGAACCCGGGAGGCAGA GGTTGCAGTGAGCCGAGATTGTGCCACTGCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0270 a0001c0001t0004g0270	1	404	0.0025	-532	c.46 others(11): Show c.4689_*5220del		DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding					3001		chr1	TogoVar
DPH7_chr9_137549444_137583925	137567492	TGTCTGTG others(525): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGG TGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0315 a0001c0011t0001g0315	1	340	0.0029	-532	c.641 others(17): Show c.641-2870_641-2339del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
NKD2_chr5_1003802_1043943	1024308	TGTGGGCG others(525): Show TGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCG TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTG CTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCA CCCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTG GGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCATCCCA GCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGT CCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCT TCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCT CTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCG TCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02895.hp2 HG03453.hp2 others(1): Show HG02145.hp2 HG02895.hp2 HG03453.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0186 a0001c0001t0003g0013 a0001c0001t0003g0121 others(1): Show a0001c0001t0001g0186 a0001c0001t0003g0013 a0001c0001t0003g0121 a0001c0001t0003g0122	4	319	0.0125	-532	c.142 others(17): Show c.142-7843_142-7312del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9						chr5	TogoVar
NXN_chr17_794310_984776	949052	TGCCTCCT others(525): Show TGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTC TCCCCGTGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCTGCCT CCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCGCGGCCTCCTCC TCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCTGC CTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCC CCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCGCGGCCTCCT CCTCTCCCCGTGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCT GCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCGCTGCCTCCTCCTCTCCCCGCG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	242	0.0041	-532	c.360 others(19): Show c.360+29735_360+30266del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OR6B3_chr2_240039571_240058521	240042047	CGAAGGGC others(525): Show CGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGG CATGGACGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTG AAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCG TGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAA GGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATG GAGGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGA GGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGG TGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGC CGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGAGG AAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCA TGGAGGAAGGGCCGTGGGTGAAGAGGCATGGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0003 a0003c0004t0003g0003	1	444	0.0023	-532	c.24 others(11): Show c.2498_*3029del		OR6B3	ENSG00000178586.7	transcript	ENST00000641019.2	protein_coding					2523		chr2	TogoVar
OR6B3_chr2_240039571_240058521	240042195	CGTGGGTG others(525): Show CGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACG AAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCA TGGAGGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAA GAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTG GGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGG GCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGA GGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGG CATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTG AAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCG TGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAA GGGCCGTGGGTGAAGAGGCATGGATGAAGGACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(118): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01255.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19067.hp1 NA19072.hp1 NA19076.hp2 NA19080.hp1 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0011	a0001c0001 a0002c0002 a0003c0011 others(2): Show a0001c0001 a0002c0002 a0003c0011 a0006c0010 a0011c0019	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0002c0002t0002 a0003c0011t0001 a0006c0010t0001 a0011c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0101 a0001c0001t0001g0122 a0001c0001t0007g0136 a0001c0001t0007g0137 a0001c0001t0011g0058 a0001c0001t0011g0061 a0002c0002t0002g0009 a0003c0011t0001g0064 a0003c0011t0001g0107 a0006c0010t0001g0024 a0011c0019t0001g0051	121	444	0.2725	-532	c.23 others(11): Show c.2350_*2881del		OR6B3	ENSG00000178586.7	transcript	ENST00000641019.2	protein_coding					2375		chr2	TogoVar
PLEKHG4B_chr5_87168_194966	165971	CTCTGACG others(525): Show CTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACA CTAATGCTCTGACGGGGCAGGGCTCACACTAATGCTCTGACGGGGCGGGG CTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGG ACGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCT GACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAA TCCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACG GGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACT AATGCTCTGACGGGGCGGGGCTCACAGTAATCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0071 a0006c0071	a0006c0071t0018 a0006c0071t0018	a0006c0071t0018g0202 a0006c0071t0018g0202	1	210	0.0048	-532	c.347 others(19): Show c.3476+2437_3477-2824del		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
SAMD11_chr1_918923_949574	934217	CCGTTACA others(525): Show CCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAG GCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGG CGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp2 HG02809.hp1 others(3): Show HG01891.hp1 HG02647.hp2 HG02809.hp1 HG03486.hp2 HG03834.hp2 NA18975.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0007c0012 a0001c0001 a0001c0004 a0007c0012	a0001c0001t0001 a0001c0004t0001 a0007c0012t0001 a0001c0001t0001 a0001c0004t0001 a0007c0012t0001	a0001c0001t0001g0142 a0001c0004t0001g0145 a0007c0012t0001g0009 others(1): Show a0001c0001t0001g0142 a0001c0004t0001g0145 a0007c0012t0001g0009 a0007c0012t0001g0115	6	434	0.0138	-532	c.843 others(16): Show c.843-1527_843-996del		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79920037	GAGGAGAG others(525): Show GAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGGAGGAGAGACA GGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGGGAG AGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCA GTGGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGA CGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGA GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAA GGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACAGGAACCGAGTGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01515.hp2 HG01517.hp2 others(1): Show HG01256.hp2 HG01515.hp2 HG01517.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0026 a0001c0001t0005g0214 a0001c0001t0011g0012 a0001c0001t0005g0026 a0001c0001t0005g0214 a0001c0001t0011g0012	4	352	0.0114	-532	c.392 others(16): Show c.392-1169_392-638del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SULT4A1_chr22_43819509_43867513	43834348	AGCTTCCC others(525): Show AGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCT GCCCTGAGCTTCCCGCAGCCACACCGCGGCCCTGTGCTTCCCGCGCCCCC ACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCAC GCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCT TCCCGCAGCCACACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCGTCCC TGTGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCG CGGCCCTGAGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCC CCACCGCTGCCCTGAGCTTCCCGCACCCACACCGCGTCCCTGTGCTTCCC GCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGAG CTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCAGCCACACCGCGGC CCTGAGCTTCCCGCGCCCCCACCGCGTCCCTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01496.hp1 HG02895.hp2 HG00099.hp1 HG01496.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0026 a0001c0001t0006g0133 a0001c0001t0003g0026 a0001c0001t0006g0133	3	386	0.0078	-532	c.509 others(16): Show c.509-1146_509-615del		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6						chr22	TogoVar
TNK2_chr3_195858364_195913551	195874713	CTCCCTCG others(525): Show CTCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCCT CGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGAT GGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCC CACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGC ACGCTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACACTC CGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGC ACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCGGAGGCACAGG AAGCTCCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCT CCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTC GGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGAT GGCGCCCACGCACGCTCCGAGGCACAGGAAGCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00597.hp1 others(24): Show HG00423.hp1 HG00558.hp1 HG00597.hp1 HG02071.hp1 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02896.hp1 NA18948.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18969.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA19010.hp1 NA19054.hp1 NA19056.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19083.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0020 a0028	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0004c0007 a0004c0032 a0020c0071 a0028c0079	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0002c0004t0001 a0004c0007t0001 a0004c0032t0001 a0020c0071t0002 a0028c0079t0001	a0001c0001t0001g0056 a0001c0001t0001g0274 a0001c0001t0001g0275 others(24): Show a0001c0001t0001g0056 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0294 a0001c0001t0001g0349 a0001c0001t0002g0273 a0001c0001t0002g0338 a0001c0001t0002g0361 a0001c0001t0008g0269 a0001c0002t0001g0018 a0001c0002t0001g0174 a0001c0002t0001g0187 a0001c0003t0001g0200 a0002c0004t0001g0256 a0004c0007t0001g0260 a0004c0007t0001g0262 a0004c0007t0001g0271 a0004c0007t0001g0289 a0004c0007t0001g0299 a0004c0007t0001g0300 a0004c0007t0001g0302 a0004c0007t0001g0307 a0004c0007t0001g0310 a0004c0007t0001g0312 a0004c0032t0001g0303 a0020c0071t0002g0346 a0028c0079t0001g0044	27	372	0.0726	-532	c.125 others(19): Show c.1257-2775_1257-2244del		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15						chr3	TogoVar
ZFAT_chr8_134472788_134718031	134498639	TTGCTGGT others(525): Show TTGCTGGTTACACACAGAGCCTGATTTGGTAGGGTTGGGGTGGAGCTGGG ATGCCCCCGTTGCTGGTTACACACACAGCCTGATTTGGTAGGGTTGGGGT GGAGCTGGGATGCCCCCGTTGCTGGTTACACACAGAGCCTGATTTGGTAG GGTCGGGGTGGAGCTGGGATGCCCCCCGTTGCTGGTTACACACAGAGCCT GATTTGGTAGGGTCGGGGTGGAGCTGGGATGCCCCCGTTGCTGGTTACAC ACACAGCCTGATTTGGTAGGGTTGGGGTGGAACTGGGATGCCCCCGTTGC TGGTTACACACAGAGCCTGATTTGGTAGGGTCGGGGTGGAGCTGGGATGC CCCCGTTGCTGGTTACACACAGAGCCTGATTTGGTAGGGTCGGGGTGGAG CTGGGATGCCCCCGTTGCTGGTTACACACAGAGCCTGATTTGGTAGGGTC GGGGTGGAGCTGGGATGCCCCCGTTGCTGGTTACACACAGAGCCTGATTT GGTAGGGTTGGCGTGGAGCTGGGATGCCCCTGC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp2 HG01257.hp2 others(13): Show HG01081.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01496.hp2 HG01516.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02148.hp2 HG03688.hp1 HG03688.hp2 HG04115.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0018 a0001c0001 a0001c0003 a0001c0018	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0018t0001	a0001c0001t0001g0001 a0001c0003t0001g0031 a0001c0003t0001g0035 others(12): Show a0001c0001t0001g0001 a0001c0003t0001g0031 a0001c0003t0001g0035 a0001c0003t0001g0059 a0001c0003t0001g0066 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0272 a0001c0003t0002g0226 a0001c0018t0001g0105 a0001c0018t0001g0127 a0001c0018t0001g0128	16	274	0.0584	-532	c.349 others(21): Show c.3492+10448_3492+10979del		ZFAT	ENSG00000066827.16	transcript	ENST00000377838.8	protein_coding	15/15						chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531250	CGAGCAGC others(524): Show CGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGC AGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGG GCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0003 a0001c0001t0021 a0001c0014t0007 a0001c0001t0003 a0001c0001t0021 a0001c0014t0007	a0001c0001t0003g0023 a0001c0001t0021g0062 a0001c0014t0007g0240 a0001c0001t0003g0023 a0001c0001t0021g0062 a0001c0014t0007g0240	3	246	0.0122	-531	c.298 others(17): Show c.2980+524_2981-380del		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11						chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531505	GGGCTAGA others(524): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	1	246	0.0041	-531	c.298 others(17): Show c.2980+269_2981-635del		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11						chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1874722	TGTGTAAG others(524): Show TGTGTAAGCAGTGGAGGTTCTAAGACAGGCTGGAGGAACAGTGGAGACAC ACACCAGGGCGTGTAGGGGGTAGAGGTTCTAAGACAGGCTGGAGGAACAG TGGAGACACACACCACGGCGTGTAGGGGGTAGAGGTTCTAAGACAGTCTG GTGGGAGAGTGCAGACACACCCGGGGCCGTGTAGGGGGTACAGGTTCTAA GACAGTCTGGTGGGAGAGTGCAGACACACACGGGGCTGTGTCGGGGATAG AGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACACACACCAGGGCGTGT AGGGGGTAGAGGTTCTAAGACAGGCTGGAGGAACAGTGGAGACACACACC ACGGCGTGTAGGGGGTAGAGGTTCTAAGACAGTCTGGTGGGAGAGTGCAG ACACACCCGGGGCCGTGTAGGGGGTACAGGTTCTAAGACAGTCTGGTGGG AGAGTGCAGACACACACGGGGCTGTGTCGGGGATAGAGGTTCTAAGACAG TCTGGTGGGAGAGTGCAGACACACACCAGGGC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0128 a0002c0128	a0002c0128t0001 a0002c0128t0001	a0002c0128t0001g0028 a0002c0128t0001g0028	1	363	0.0028	-531	c.680 others(17): Show c.680-1843_680-1313del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
C1orf87_chr1_59985394_60078770	60022254	CAGAGTTC others(524): Show CAGAGTTCAGTTAGGAGGTTATTACAGAAATCCAGGAGAAAGATAATGGT AGTGTGGATGGGTGTTGTTAAGTAACAATAGAGGGGGTGACAGGGAACCA GATTCTGGATATGAGTTGATTTGCTAATTAAATAAATTAAATCAATAATT AACAATCTTTCAAAGCAGAAAGTACCAGGCCCAGTTGGGTTCACTGGTGA ATTCTACCAAAAATTTGAGAAAGAAATTGCAGTAGTTTCCCCTTATCCAC AGGGTATATATTCCAAGACCCATCGTGGATGCCTGAAACTACAGCTAGTA CTGAACCCTATATATCCTATGCACAAATTTCTTTTTCCTTCTTCACAATT GTACAAATAGATTTGTTCTTTCTGTAGATCTTAGAAACCTCAGCATACAT TTTTTTTCCCTCATTAAGTTGAAAGCCTTCATCTTTTCACATAAGAAAGT ATTTTACAGTTTATCTTTGGCATATCCAAGTTGCCAGCATGACTACTTTT TTGCTTTGAGGCTATTAATAAGCAAATAAGCA	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18993.hp2 NA19079.hp2 NA18984.hp1 NA18993.hp2 NA19079.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0007 a0001c0009t0001g0120 a0001c0009t0001g0007 a0001c0009t0001g0120	3	382	0.0079	-531	c.112 others(19): Show c.1127+2616_1127+3146del		C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	8/11						chr1	TogoVar
C8orf82_chr8_144520733_144534111	144531250	CGAGCAGC others(524): Show CGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGC AGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGG GCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03195.hp1 HG03209.hp1 others(1): Show HG02258.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0009 a0001c0003t0004 a0001c0003t0009	a0001c0003t0004g0052 a0001c0003t0009g0025 a0001c0003t0009g0061 a0001c0003t0004g0052 a0001c0003t0009g0025 a0001c0003t0009g0061	4	398	0.0101	-531	c.-28 others(11): Show c.-2865_-2335del		C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding					2140		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531505	GGGCTAGA others(524): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0048 a0001c0003t0004g0048	1	398	0.0025	-531	c.-31 others(11): Show c.-3120_-2590del		C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding					2395		chr8	TogoVar
CAMK1D_chr10_12344547_12840545	12775589	AGGTGAGA others(524): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20300.hp1 HG01891.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0104 a0001c0001t0001 a0001c0001t0104	a0001c0001t0001g0191 a0001c0001t0104g0089 a0001c0001t0001g0191 a0001c0001t0104g0089	2	214	0.0094	-531	c.565 others(17): Show c.565+5792_565+6322del		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
COPS4_chr4_83030183_83080818	83063272	TGGTAGTC others(524): Show TGGTAGTCAATGTTTAGGTACAGACTAGTGAAAATCATGTTAAATTAGAA GTATCTTTTAATAATAATTCTACATAACACTTCCTCATAAAAAAAGAGGA ATTGTTTTTATTTAAAATTTTTTTTTTAATTTATAAAATTTTTTTTGAGA CAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATGGCGTG ATCTCGGCTCACTGCAAACTCTACCTCCTGGCTTCATACCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGC TAATTTTTTGTACTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGA TGGTTTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGT GCTAGGATTACAGGCATGAGCCACCACACCTGGCCTATTTTTTATTTTAT TTTTTGAGACAGAGTTTTACTCTTGTCGCCCAGGCTGGAGTGCAATGGTG CGATCTCGGTTCACCACAACCTCTGCCTCCCG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp1 HG03486.hp2 HG02647.hp1 HG02818.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0103 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0103	3	372	0.0081	-531	c.886 others(14): Show c.886+30_886+560del		COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
LRRC24_chr8_144517388_144532033	144531250	CGAGCAGC others(524): Show CGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGC AGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGG GCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03209.hp1 HG03453.hp2 HG02258.hp1 HG03209.hp1 HG03453.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0014 a0004c0006t0001g0014	3	398	0.0075	-531	c.-48 others(11): Show c.-4881_-4351del		LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding					4218		chr8	TogoVar
MTA1_chr14_105414827_105475729	105459164	CCCTAGGG others(524): Show CCCTAGGGAGCTGTGTGCCTGGGGGGAGTCCGTGCTGCCCATGGCCCCTG GTCCCTGGCGCCTGGGGAGCTGTGTGCCTGGGGGCAGTCCGTGCTGCCCA TGGCCCCTGGTCCCTGGTCCCTGGGGAGCTGTGTGCCTGGGGGGAGTCCG TGCTGCCCGTGGCCCCTGGTCCCTGGTCCCTGGGGAGCTGTGTGCCTGGG GGGAGTCCGTGCTGCCCATGGCCCCTGGTCCCTGGCGCCTGGGGAGCTGT GTGCCTGGGGGGAGTCCGTGCTGCCCATGGCCCCTGGTCCCTGGTCCCTG GGGAGCTGTGTGCCTGGGGGGAGTCCGTGCTGCCCGTGGCCCCTGGTCCC TGGCGCCTGGGGAGCTGTGTGCCTGGGGGCAGTCCGTGCTGCCCATGGCC CCTGGTCCCTGGCACCTGGGGAGCTGTGTGCCTGGGGGGAGTCCGCGCTG CCCGTGGCCCCTGGTCCCTGGTCCCTGGGGAGCTGTGTGCCTGGGGGGAG TCCGTGCTGCCCATGGCCCCTGGTCCCTGGCG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0145 a0005c0005t0001g0145	1	304	0.0033	-531	c.653 others(15): Show c.653+796_654-660del		MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	8/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
MTA1_chr14_105414827_105475729	105459536	CTGGGGGC others(524): Show CTGGGGGCAGTCCGTGCTGCCCATGGCCCCTGGTCCCTGGCACCTGGGGA GCTGTGTGCCTGGGGGGAGTCCGCGCTGCCCGTGGCCCCTGGTCCCTGGT CCCTGGGGAGCTGTGTGCCTGGGGGGAGTCCGTGCTGCCCATGGCCCCTG GTCCCTGGCGCCTGGGGAGCTGTGTGCCTGGGGGCAGTCCGTGCTGCCCA TGGCCCCTGGTCCCTGGTCCCTGGGGAGCTGTGTGCCTGGGGGGAGTCCG TGCTGCCCGTGGCCCCTGGTCCCTGGTCCCTGGGGAGCTGTGTGCCTGGG GGGAGTCCGTGCTGCCCATGGCCCCTGGTCCCTGGCGCCTGGGGAGCTGT GTGCCTGGGGGGAGTCCGTGCTGCCCGTGGCCCCTGGTCCCTGGCGCCTG GGGAGCTGTGTGCCTGGGGGAAGTCCGTGCTGCCCATGGCCCCTGGTCCC TGGCACCTGGGGAGCTGTGTGCCTGGGGGAAGTCCGTGCTGCCCATGGCC CCTGGTCCCTGGCACCTGGGGAGCGGTGTGCG	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA19064.hp2 HG01975.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0227 a0001c0001t0001g0193 a0001c0001t0001g0227	2	304	0.0066	-531	c.654 others(15): Show c.654-815_654-285del		MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	8/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
MUC17_chr7_101015081_101063859	101041440	CTAACAAA others(524): Show CTAACAAATATGTCTTTCAGCACCACGCCAGTGGTCAGTTCTGAGGCTAG CACCCTTTCCACAACTCCTGTTGACACCAGCACACCTGTCACCACTTCTA CTGAAGCCAGTTTATCTCCTACAACTGCTGAAGGTACCAGCATACCAACC TCAAGTCCTAGTGAAGGAACCACTCCATTAGCAAGTATGCCTGTCAGCAC CACGCCGGTGGTCAGTTCTGAGGTTAACACCCTTTCAACAACTCCTGTGG ACTCCAACACTCTGGTGACCACTTCTACTGAAGCCAGTTCATCTCCTACA ATCGCTGAAGGTACCAGCTTGCCAACCTCAACTACTAGTGAAGGAAGCAC TCCATTATCAATTATGCCTCTCAGTACCACGCCGGTGGCCAGTTCTGAGG CTAGCACCCTTTCAACAACTCCTGTTGACACCAGCACACCTGTGACCACT TCTTCTCCAACCAATTCATCTCCTACAACTGCTGAAGTTACCAGCATGCC AACATCAACTGCTGGTGAAGGAAGCACTCCAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18982.hp1 NA18982.hp1	a0039 a0039	a0039c0045 a0039c0045	a0039c0045t0003 a0039c0045t0003	a0039c0045t0003g0137 a0039c0045t0003g0137	1	366	0.0027	-531	c.100 others(11): Show c.10036_10566del	p.Ser others(15): Show p.Ser3346_Met3522del	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding	3/13	10091/14352	10036/13482	3346/4493		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOS1AP_chr1_162064691_162375475	162260958	CCTCAAAG others(524): Show CCTCAAAGTTTCAAGCAATAATTATTTCATTAGAATTTGTTATATTCCCA AGGTGACTAATATAACAAATTAGAATTTGTTATATTCCCAAGATGACTAA TATAACAAATTAGAATTTGTTATACTCCCAAAGTGCCTTGAAAGTTAATA TTTATTTGGAGATATATATGTTCAGGTATACTTGGCAGAAACAACCAGTA AATCTCATTGGTCTGGCATCAGAGAATGAGGTTCTCCATATAAGTAAAAT TTCCAGGGAACTCAAGCTTTCCCCTCTAAGCATCAGTCCTATCTTTCAAA ATCAATAACATTTAATTACAATATTTTATAACCTTTCATGTCCCCTTGTT CTTAAACAATATCCTGATGTTACCTTCTATGGCAGCAGGGAGTTTGCAGA TTCTTAATGTGCAAACTTTTAAGAATCTTGAGATGGGAGATTACCCTGCA TTATCCAGGTGGGCTCAATCTAATCACAAGAGTCCTTATAGAAGAGAGGC AGCGGGGAGTCAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp1 HG01169.hp2 others(4): Show HG00544.hp2 HG00735.hp1 HG01169.hp2 HG01358.hp1 HG01934.hp2 HG02886.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0033	a0001c0001t0001g0137 a0001c0001t0002g0067 a0001c0002t0001g0022 others(4): Show a0001c0001t0001g0137 a0001c0001t0002g0067 a0001c0002t0001g0022 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0002g0014 a0001c0002t0033g0107	7	182	0.0385	-531	c.178 others(19): Show c.178-26385_178-25855del		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9						chr1	TogoVar
VPS53_chr17_503668_719839	618462	CACTAATA others(524): Show CACTAATATTTCCCGGGTAGCTGGGACTACAGGCATGCGCCACCACACCC CACTAATATTTCCTGGGTAGCTGGGACTACAGGCATGCGCCATCAGGCCC CGCTATTATTTCCCAGGTAGCTGGGACTACAGGCATGCACCACCATGCCC AGCTAATATTTCCCGGGTAGCTGGGACTACAGGTGCCCACGACACCTGCT AATATTTCTTGGGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTTA ATATTTCCTGGGTAGCTGGGACTACAGGCGTGCACCACCATGCCCCGCTA ATATTTCCCGGGTAACTGTGACTACAGGCGCCCACCAGGCCTGCTAATAT TTCCTGGGTAGCAGGGACTACACGTGTGCACCACCACACCTGCTAATATT TCCCGGGTAGCTGGGACTACAGGCGCCCACCACGCCTGCTAATATTTTCT GGGTAGCTGGGACTACAGGCGCCCACCACGCCTGCTAATATTTCCTGGGT AGCTGGGACTACACGTGTGCACCACCACGCCT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0078 a0001c0002t0078	a0001c0002t0078g0041 a0001c0002t0078g0041	1	232	0.0043	-531	c.111 others(19): Show c.1116+4540_1116+5070del		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21						chr17	TogoVar
BRF1_chr14_105204286_105306001	105275918	TGAGAGGC others(523): Show TGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCTGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTG AGAAGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACA GTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCC ACAGTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAG GCCACAGTGAGAAGGAGCCGAGAGGGGGCCCTCACTAGAGAGCTGGGGAG GAGGCCACAGTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGG GAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCT GGGGAGGAGGCCACAGTGAGAAGGAGCTGAGAGGGGGCCCTCACTAGAGA GCTGGGGAGGAGGCCACAGTGAGAAGGAGCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18906.hp2 HG02630.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0005 a0001c0001t0001g0006	2	72	0.0278	-530	c.266 others(17): Show c.266-3554_266-3025del		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17						chr14	TogoVar
CDC34_chr19_526760_547087	540223	GTGGCCAG others(523): Show GTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCC CCCGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAA TCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCC CCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAG AATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCC GGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGG CCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTT AGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGG CCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCCCGGGTTTAGAATCCGGAGGCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	328	0.0031	-530	c.498 others(16): Show c.498-1102_498-573del		CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX51_chr12_132131594_132149319	132134883	CGCTCCTC others(523): Show CGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCC CCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCCACTCCTC CCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTG TGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCG CTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCC GAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTG CCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCAC CTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCT CCCACCTCCCCGAGTGTGCCCACGGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0017 a0012c0015t0017	a0012c0015t0017g0031 a0012c0015t0017g0031	1	334	0.0030	-530	c.38 others(11): Show c.3859_*4388del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1710		chr12	TogoVar
DHRSX_chrX_2214506_2505976	2277749	AGAGGGAG others(523): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGG GAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAA AGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGA GAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGA GAGGGAACGGGGAGAGAGAGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0013 a0007c0009t0013	a0007c0009t0013g0005 a0007c0009t0013g0005	1	50	0.0200	-530	c.389 others(19): Show c.389-11332_389-10803del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
DPH7_chr9_137549444_137583925	137565338	TGTCTGTG others(523): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGA TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	340	0.0029	-530	c.641 others(15): Show c.641-714_641-185del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567048	ACTCTGTC others(523): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	340	0.0029	-530	c.641 others(17): Show c.641-2424_641-1895del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
GZMM_chr19_539053_554922	540223	GTGGCCAG others(523): Show GTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCC CCCGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAA TCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCC CCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAG AATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCC GGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGG CCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTT AGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGG CCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCCCGGGTTTAGAATCCGGAGGCTGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	398	0.0025	-530	c.-38 others(11): Show c.-3848_-3319del		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					3829		chr19	TogoVar
MYOM2_chr8_2040046_2150456	2085546	CACTGTCA others(523): Show CACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCC CACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGC CCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTG GCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTG CGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATC TCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGA TCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTC GTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTG TCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCC ACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCC CCCCACAGTCGTGATCTCTTTGTGGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0124 a0002c0124	a0002c0124t0002 a0002c0124t0002	a0002c0124t0002g0253 a0002c0124t0002g0253	1	403	0.0025	-530	c.164 others(17): Show c.1644+163_1644+692del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
P2RX5_chr17_3668227_3701155	3686523	CAGAACAG others(523): Show CAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC GCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCC CCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCA GGGACCCTCCCAACGTCCCCCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0177	1	362	0.0028	-530	c.981 others(16): Show c.981+959_981+1488del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PCGF3_chr4_700832_775089	759195	CGGGTCTT others(523): Show CGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGA CTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGCTCTTCTCGCTCC GGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCT TCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCT CCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCT TCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGT TCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCG AGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTC CCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCT CTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCC CCTCTCCCGAGTTCTTCTCCTTCCGGACTCT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02165.hp2 HG02015.hp2 HG02165.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0013 a0001c0001t0006 a0002c0002t0013	a0001c0001t0006g0110 a0002c0002t0013g0302 a0001c0001t0006g0110 a0002c0002t0013g0302	2	366	0.0055	-530	c.463 others(17): Show c.463-2048_463-1519del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPRD_chr9_8309246_10618002	10404561	GCCATGTT others(523): Show GCCATGTTGGTGACACGTCCAAAATCAACCAGTGACCATTAAATAATGAC AAGTAGCAATTATTGAGTATGAACTTCTAGAAATTATCATTTCATGTTCT GGCATCTTATTTGGAATATCAAACTGTATTAATAAAATCACTATTAAATA TTAAATCTTAATAACAGGACATTTTTATACCTGCAAGTAGAGAAAGCTCT ATAGTTCCCAAGCCAATTTCAGATCCTCAGCACTGACAAACATGTATCAG CCAAAATTTGTGTCTACAGAAACAGGTCTAACTTGATCTTTGTTGTAGTG AGCTAGGATATGACTTTCTTCCCTAGCCTTCTAAACTACTGAGGAGAGTT GGCTAGTAAAAATGAGAGAATAGCAATGATGAGATAACACTTCAATCTCA TCCTCCACAGCCATGTGTGAACGCCACTAAATACTGTGGCAATGGAAAGG GCCAGCTTCAGACTGATGTAATTTCATCCCTTCTTGCTTGTGAACAATCA GAAGAGCAATCTCATCACATGCTTGGATTAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01099.hp1 others(26): Show HG00642.hp1 HG00642.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0002c0009 a0003c0008 a0004c0016 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0011 a0001c0003t0004 a0001c0004t0003 a0001c0004t0018 a0001c0005t0001 a0001c0006t0026 a0001c0010t0017 a0001c0011t0005 a0001c0012t0016 a0001c0013t0012 a0001c0014t0025 a0001c0017t0002 a0001c0018t0004 a0002c0009t0006 a0003c0008t0008 a0004c0016t0020 a0005c0015t0010	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0002g0013 others(26): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0013g0022 a0001c0001t0014g0008 a0001c0001t0019g0023 a0001c0001t0022g0012 a0001c0001t0024g0032 a0001c0002t0001g0009 a0001c0002t0003g0024 a0001c0002t0009g0017 a0001c0002t0011g0030 a0001c0003t0004g0027 a0001c0004t0003g0001 a0001c0004t0018g0015 a0001c0005t0001g0019 a0001c0006t0026g0034 a0001c0010t0017g0016 a0001c0011t0005g0021 a0001c0012t0016g0028 a0001c0013t0012g0014 a0001c0014t0025g0033 a0001c0017t0002g0005 a0001c0018t0004g0020 a0002c0009t0006g0007 a0003c0008t0008g0003 a0004c0016t0020g0011 a0005c0015t0010g0026	29	34	0.8529	-530	c.-59 others(21): Show c.-599-64074_-599-63545del		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45						chr9	TogoVar
SEC14L1_chr17_77135969_77222101	77215801	CGTAGGTA others(523): Show CGTAGGTAGGGCTGGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGG TTAGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGTAG GGCTAGTAGGTAGGGTTAGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGT AGGGTTAGGTAGGGTTCGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTA GGGTTCGTAGGTAGGGTTCGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGG TAGGGCTAGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGCTAGTA GGTAGGGTTCGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGTTCG TAGGTAGGGTTCGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGCT AGTAGGTAGGGCTAGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGTAGGG TTCGTAGGTAGGGTTCGTAGGTAGGGTTAGTAGGTAGGGTTCGTAGGTAG GGCTAGTAGGTAGGGCTAGTAGGTAGGGCTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00741.hp1 HG01168.hp1 others(34): Show HG00597.hp2 HG00741.hp1 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG01496.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp1 HG02145.hp2 HG02293.hp2 HG02300.hp2 HG02630.hp2 HG03017.hp1 HG03490.hp1 HG03669.hp1 HG04184.hp1 NA18945.hp1 NA18955.hp2 NA18969.hp1 NA18971.hp2 NA18986.hp2 NA18989.hp1 NA18994.hp1 NA19002.hp1 NA19003.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19086.hp1 NA19091.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0063 a0001c0002t0006 a0001c0001t0006 a0001c0001t0063 a0001c0002t0006	a0001c0001t0006g0001 a0001c0001t0006g0010 a0001c0001t0006g0026 others(31): Show a0001c0001t0006g0001 a0001c0001t0006g0010 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0006g0102 a0001c0001t0006g0196 a0001c0001t0006g0200 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0206 a0001c0001t0006g0207 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0006g0210 a0001c0001t0006g0212 a0001c0001t0006g0213 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0006g0217 a0001c0001t0006g0218 a0001c0001t0006g0220 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0006g0227 a0001c0001t0006g0389 a0001c0001t0006g0391 a0001c0001t0063g0001 a0001c0002t0006g0221	37	430	0.0861	-530	c.17 others(11): Show c.1789_*2318del		SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17				1789	INFO_REALIGN_3_PRIME	chr17	TogoVar
SLAIN2_chr4_48336529_48431201	48363437	GGGGGGCT others(523): Show GGGGGGCTGACACCCCCACCTACCTCCCGGACGGGGCGGCTGGCCGGACA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGAACCCCCCACCTCC CTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCA GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGGCTGACCCCCGCATCTCCCTCCCGGACGGGGTGGCTGGCCG GGCTGAGGGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0181 a0001c0001t0027g0181	1	348	0.0029	-530	c.390 others(17): Show c.390-6401_390-5872del		SLAIN2	ENSG00000109171.15	transcript	ENST00000264313.11	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC2A13_chr12_39750025_40111081	40076412	CTGATTTT others(523): Show CTGATTTTCTGTTCTTGCATTAATTCACATTGGATAATGTTACTAGCAGC ATCCATGTTGCTGGAAAGGACATGATCTGATTTTTTTTATAGTGTGTAGT ATTCCATGGTGTATATGTACATTTTCTTTATCCAGTCCACCATTGATGAA CATCTAGGTTGATTCCATGTCTTTGCTGTGTGAACAGTGCTGTGATGAAC ATATGTTTGCATGTGTCTTTATGATAGAACGAATTATATTTCTTTGGGTA TATACCCAGTAAGGGGACTGCTGGATCGAATGGTAGTTCTGTTTTACATT GAGAAATCACCACAATGCTTTCCACGGTGGTTGAACTAATTTACATTACC ACCACCAGCACTGTATGTGTTTCCTTTTCTCCACAGCCTCTCCAGCATGT TTTTCGTATGCTTTTTGTTTTTGACTTTTCAATAACTGCCATTCTGACTG GTATGAGATGCTATCTCATCATGGTTTTGATCTGCATTTCTTTAATGATT AATGATGTTGAGCATTTTTTCATATTCTTGT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	214	0.0047	-530	c.556 others(19): Show c.556+28311_557-28203del		SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	1/9						chr12	TogoVar
SORCS2_chr4_7187538_7747827	7229813	GCAGTGTC others(523): Show GCAGTGTCATGCTCGTGTATGAAGGAGATGAAGATGGTCAAGTCTTCGAG TGTCTGGGCAGGAGCAGTGTGGTGTGCTCATGTATGAAGGAGATGAAGAT GGTCAAGTCTTCGAGTCTCTGGGCAGGAGCAGTGTCATGTGCTCATGTAT GAAGGAGATGAAGATGGTCAAGTCTTCGAGTCTCTGGGCAGGAGCAGTGT CATGTGCTCATGTATGAAGGAGATGAAGTTGGTCAAGTCTTCGAGTCTCT GGGCAGGAGCAGTGTCATGTGCTCATGTATGAAGGAGATGAAGATGGTCA AGTCTTCCAGTGTCTGGGCAGGAGTAGTGTCATGTGCTCATGTATGAAGG AGATGAAGATGGTCAAGTCTTTGAGTCTCTGGGCCGGAGCAGTGTCTGGA GCAGTGTCATGTGCTCATGTATGAAGGAGATGAAGATGGTCAAGTCTTCT AGTCGCTGGGCAGGAGCAGTGTCATGTGCTCATGTATGAAGGAGATGAAG ATGGTCAAGTCTTCCAGTGTCTGGGCAGGAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp1 HG01071.hp2 others(4): Show HG00099.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01175.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0028 a0001c0047	a0001c0001t0009 a0001c0002t0006 a0001c0006t0005 others(3): Show a0001c0001t0009 a0001c0002t0006 a0001c0006t0005 a0001c0006t0066 a0001c0028t0028 a0001c0047t0071	a0001c0001t0009g0085 a0001c0002t0006g0158 a0001c0002t0006g0159 others(4): Show a0001c0001t0009g0085 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0006t0005g0165 a0001c0006t0066g0084 a0001c0028t0028g0152 a0001c0047t0071g0051	7	168	0.0417	-530	c.480 others(19): Show c.480+36688_480+37217del		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26						chr4	TogoVar
TPPP_chr5_654862_698352	667855	CCGTCAGG others(523): Show CCGTCAGGGAAGTACCGACAAGCACACAGAGAGGGGGCCGTGTGGGCGCC GTCAGGGAAGTACCGACAAGCACACAGAGAGGGGGCCGTGTGGGCGCCGT CAGGGAAGTGCGGACAAGCACACAGAGAGGGGGCCGTGTGGGCGCCGTCA GGGAAGTACCGACAAGCACACAGAGAGGGGGCCGTGTGGGCGCCGTCAGG GAAGTACCGACAAGCACACTGGAGAGGGGTCCGCGTGGGCCCCATCAGGG AAGTACCGACAAGCACACGGAGAGGGGTCCGCGTGGGCCCCGTCAGGGAA GTACCGACAAGCACACGGAGAGGGGTCCGCGTGGGCGCCGTCAGGGAAGT ACCGACAAGCACACAGAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTGC GGACAAGCACACGGAGAGGGGTCCGCGTGGGCGCCGTCAGGGAAGTACCG ACAAGCACACAGAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTGCGGAC AAGCACACTGGAGAGGGGTCCGCGTGGGCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	409	0.0024	-530	c.312 others(17): Show c.312-2262_312-1733del		TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3						chr5	TogoVar
TUBGCP2_chr10_133273635_133313872	133291945	CCCTCCGT others(523): Show CCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCA GCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCT CCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCC GTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGC CCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCC CTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCAT GTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCAC ACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGTGTCCCCGTGTCCCGG GGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCA TGTCCCTCCGTGTCCCCGTGTCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02622.hp2 NA19067.hp2 HG01099.hp1 HG02622.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 a0001c0001t0001 a0001c0001t0004 a0001c0022t0001	a0001c0001t0001g0108 a0001c0001t0004g0239 a0001c0022t0001g0124 a0001c0001t0001g0108 a0001c0001t0004g0239 a0001c0022t0001g0124	3	284	0.0106	-530	c.121 others(16): Show c.1214+24_1214+553del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TXNDC9_chr2_99313982_99341333	99314532	TTTTTTTT others(523): Show TTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGA GTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAT GCAACTCTCCCATCTCAGCCTCCTGAGTAGCTGGTACTACAGGCGCATGC CACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCA TGTTGTCTGCCTTTTTTATTATAATCATCCTGGCTGGTGCAAAGTGGGAT GTCATTGTGGTTTGGATTTACATTTCCCTGACAGTTAATGATTTGAGCAT CTTTTCATGTACTTACTGCCCAACTGTCCATTTCTTTTGGGAAGACGTAC AGATCCTTTACTCATTTTTTTTTTTTTTTTTTGAGACGGACTCTCACTCT GTCGCCCAGGCTGCAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCC ACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCACCACCACGCCTGGTTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	370	0.0027	-530	c.46 others(11): Show c.4620_*5149del		TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding					4449		chr2	TogoVar
WDR70_chr5_37374318_37758435	37563080	ACCCCCCC others(523): Show ACCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCTCCCGGCCTCCCTCCCGGATGGGGGGGCTGGCTGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACTTTCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGGCCCCCCACCTCCCTCCTGGACGG GGCGGCTGGCCGTGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCAGGATTGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACATCCTTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCC GGACGGGCGGCTGGCCGGGCGGGGGGATGAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02293.hp2 HG03704.hp1 others(1): Show HG01074.hp1 HG02293.hp2 HG03704.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0087 a0001c0001t0001g0175 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0004g0005	4	242	0.0165	-530	c.918 others(19): Show c.918-41976_918-41447del		WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr5	TogoVar

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Search Results (Total: 10000 hits)