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
RASA3_chr13_113972783_114137623	114083861	GTCCTCGC others(371): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAG TGGTGAGTCTGGAGTATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	67	0.0149	-378	c.56- others(17): Show c.56-10402_56-10025del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RPTOR_chr17_80539838_80971368	80743695	CCCTGGCT others(371): Show CCCTGGCTACTAGCACTGTCCTGGCTACGAGCACAGCCCTGGCTACTAGC AGAGCCCTGGCTACTAGCACTCTCCTGGTTACTAGCAGAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGG TTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA19082.hp1 HG03669.hp1 NA19082.hp1	a0001 a0001	a0001c0026 a0001c0060 a0001c0026 a0001c0060	a0001c0026t0043 a0001c0060t0001 a0001c0026t0043 a0001c0060t0001	a0001c0026t0043g0096 a0001c0060t0001g0130 a0001c0026t0043g0096 a0001c0060t0001g0130	2	196	0.0102	-378	c.655 others(18): Show c.655-10309_655-9932del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC12A7_chr5_1045384_1117063	1061058	GCCGCACC others(371): Show GCCGCACCCGCCGCACCTGCCGCATCCGCCATGCGGAACCCCTGCGTCTC ACCCACCGCACCCGCCGTGCGGGACCCCTGCGTCTCACCCGCCGCACCCG CCGTGCGGGACCCCTGCGTCTCACCCACCGCACCCGCCGTGCGGGATCCC TGCGTCTCACCCACCGCACCCGCCGTACCTGCCGCATCCGCCATGCGGAA CCCCTGCGTCTCACCCACCGCACCTGCCGTGCAGGATCCCTGAGTCTCAC CCGCCGCACCCGCCGTGCGGGATCCCTGAGTCTCACCCGCCGCACCCGCC GTGCGGGATCCCTGAGTCTCACCCGCCGCACCCGCCGTACCTGCCGCATC CGCCATGCGGGACCCCTGCGTCTCACCCA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0016 a0002c0022t0016	a0002c0022t0016g0065 a0002c0022t0016g0065	1	118	0.0085	-378	c.274 others(17): Show c.2740-985_2740-608del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
TTLL11_chr9_121810674_122098308	121971078	GCCCCCCG others(371): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCCGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAG CCCCCCTGCCCGGCCAGCCGCCCCGTCCAGGAGATGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0028 a0002c0003t0028	a0002c0003t0028g0007 a0002c0003t0028g0007	1	174	0.0058	-378	c.148 others(19): Show c.1481+2553_1481+2930del	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8			chr9	TogoVar
ZFAND2A_chr7_1147907_1165196	1156112	CGCCCAGC others(371): Show CGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACTG CCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCG AAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGA GCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAG GCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTG AAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGAC CGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTC CGAAGGGGTGGACCGCCCAGCAGCTGAAG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 NA18940.hp2 others(3): Show HG00642.hp2 HG00738.hp2 NA18940.hp2 NA18948.hp2 NA18961.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0002g0018 a0001c0001t0001g0030 a0001c0001t0002g0018	6	432	0.0139	-378	c.151 others(15): Show c.151-906_151-529del	ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4			chr7	TogoVar
ZNF516_chr18_76352682_76500242	76393092	GAGGGCAG others(371): Show GAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAG TCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAA GCCGGGAAGGCAGGTGGTCAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0155 a0001c0002t0003g0155	1	346	0.0029	-378	c.181 others(21): Show c.1811-13167_1811-12790del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
AKAP14_chrX_119890893_119925716	119898521	GTGGCTCA others(370): Show GTGGCTCACACCTGTAATCCCAGCACTTTGGAGATTACACCAAGGCAGGT GTATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAA CCCCATCTCTACTAAAAATAACAAAAACTAGCCGGGCATGGTGGCGGACA CCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACC CAGGAGGCAGAGGTTGCAGTGAGCCGAGATTTCGCCATTGCACTCCGGCC TGGGCAATAAGAGTGAAAACTCCGTCTTGAAAAAAAAAAAAAAGAGTTGC CTTTTGTGAAAGAGGCTCCCAGAGAGAGAGTGGGTCACTGGACTCTAGAT GAAAATGTGAGAATAAGGCCAGGCGCGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	304	0.0033	-377	c.-11 others(17): Show c.-11+2285_-11+2661del	AKAP14	ENSG00000186471.13	transcript	ENST00000371431.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
BPHL_chr6_3113711_3158578	3145275	TGGAGTGC others(370): Show TGGAGTGCTGGTTCGGGTCCGAGTGCTGGTTCGGGGTGGAGTGCTGGTTC GGGGTGGAGTGCTGGTTCGGGGTGGAGTGCTGGTGTGGGTTGGAGTGCTG GTTCGGGGTGGAGTGCTGGTTCGGGTCCGAGTGCTGGTTCGGGTGGAGTG CTGGTTCAGGGTGGAGCGCTGGTTCGGGGTGGAGTGCTGGTTTGGGTTTG AATGCTGATTCGGGGTGGAGTGCTGGTTCGGGGTGGAGTGCTGGTTCAGG GTGGAGTGCTGGTTCCGGTTGGAGTGCTGGTGTGGGTTGGAGTGCTGGTG TGGGTCGGAGTGCTGGTTTGGGTCGGAGTGCTGGTTTGGGTCGAGTGCTG GTTCGGGTTGGAGTGCTGGTTCGGGGTG	T T	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	350	0.0029	-377	c.788 others(17): Show c.788+4768_788+5144del	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BRSK2_chr11_1384934_1467689	1431951	GTCTTCTG others(370): Show GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGC	G G	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0345 a0002c0002t0007g0345	1	360	0.0028	-377	c.92- others(15): Show c.92-4088_92-3712del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
CDC34_chr19_526760_547087	540419	GGCCCCCC others(370): Show GGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGT TTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGA GGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGC CAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGG GTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCG GAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTG GCCAGGCCCCCGGGTTTAGAATCCGGAGGCTGGGATGGCCAGGCCCCCGG GTTTAGAATCCAGAGGCTGGGATGGCCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01975.hp1 others(18): Show HG00140.hp1 HG00738.hp2 HG01975.hp1 HG02300.hp2 HG02717.hp1 HG02723.hp1 HG03130.hp1 HG03486.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 NA18963.hp2 NA18969.hp2 NA18979.hp1 NA18990.hp1 NA19000.hp1 NA19009.hp2 NA19043.hp2 NA19067.hp1 NA19080.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0006 a0001c0001t0001 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0089 a0001c0002t0003g0005 a0001c0002t0003g0026 others(9): Show a0001c0001t0001g0089 a0001c0002t0003g0005 a0001c0002t0003g0026 a0001c0002t0003g0072 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0006g0016 a0001c0002t0006g0079 a0001c0002t0006g0080	21	328	0.0640	-377	c.498 others(15): Show c.498-918_498-542del	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHMP1A_chr16_89639435_89662708	89647869	GGGGTCCG others(370): Show GGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGG TGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAA AGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCC GACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG GACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGC GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	392	0.0026	-377	c.253 others(15): Show c.253-915_253-539del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CNTN6_chr3_1088024_1409217	1102489	GGGAGGCC others(370): Show GGGAGGCCGAGGTGGGCGGATCACCAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAGCCGGG CGTGGTGGCGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGGGAACCCGGGGGGCGGAGCTTGCAGTGAGCAGAGATGGCGCCA CCGCCCTCCAGCCTGGGCGACAGGGCGAGACTCCGTCTCAAAAAATAAAT AAATACATAAATAAGAAATAGACATGCATTAAAATAATAGGTAGGCTATA TAATACACAGAAAACATTTATACAAAATTAATGTCCAGGCCGGGAGCTGT GGCTCACGCCTGTAATCCCAGCACTTTT	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03239.hp1 HG01978.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0001 a0001c0002t0003 a0001c0003t0001	a0001c0002t0003g0069 a0001c0003t0001g0144 a0001c0002t0003g0069 a0001c0003t0001g0144	2	232	0.0086	-377	c.-83 others(17): Show c.-83+9381_-83+9757del	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
EHMT1_chr9_137614005_137841127	137818937	GGCGCCGT others(370): Show GGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA GGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGT ACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTA GAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACCGTAGAGAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0101 a0001c0015t0001g0101	1	170	0.0059	-377	c.354 others(18): Show c.3540+801_3540+1177del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
GABBR2_chr9_98283109_98713935	98393048	ATCCATCC others(370): Show ATCCATCCATCCATCCATCCATCCACACACCCACTCATCCACCCAACCAT CCATCCATCCACTCATCCACTCATCCACCCAACCATCCATCCATCCACTC ATCCACCAACCCATCCATCCATCCATCCATCCATCCATCTATCCATCCAC TTGATCAATTCATCTATCCATCTACCCAGCCATCCATCTGTCCACCCATC TACCTGTCCATCTATCCACTCACCCACCCACCCACATACCTATCCATCTA TCCATCCATCTGCCCATTCACACACCCATCCAGGCATCCACCCAACCATC CATCCATCCATCCATCCATCCACACACCCACTCATCCACCCAACCATCCA TCCATCCACTCATCCACCAGCCCAACCT	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0132 a0001c0003t0023g0132	1	164	0.0061	-377	c.137 others(18): Show c.1378+750_1378+1126del	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GZMM_chr19_539053_554922	540419	GGCCCCCC others(370): Show GGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGT TTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGA GGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGC CAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGG GTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCG GAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTG GCCAGGCCCCCGGGTTTAGAATCCGGAGGCTGGGATGGCCAGGCCCCCGG GTTTAGAATCCAGAGGCTGGGATGGCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01975.hp2 others(22): Show HG00738.hp2 HG00741.hp1 HG01975.hp2 HG02132.hp1 HG02300.hp1 HG02717.hp1 HG02723.hp1 HG03130.hp1 HG03486.hp1 HG03491.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 NA18747.hp1 NA18942.hp1 NA18952.hp1 NA18952.hp2 NA18979.hp1 NA18990.hp2 NA19000.hp1 NA19009.hp2 NA19057.hp1 NA19067.hp1 NA19077.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0064 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0003g0003 a0001c0002t0001g0003 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0109 a0002c0003t0001g0003 a0002c0003t0001g0135	25	398	0.0628	-377	c.-36 others(11): Show c.-3652_-3276del	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3633		chr19	TogoVar
INTS9_chr8_28762661_28894969	28851129	AGGATTTC others(370): Show AGGATTTCAGCACTCACTACAAAATTAACTTCTGTGATGCAAAAGTTAAG GGCAAAGTAAGGGTGCGGGACTAAAAGAATCAGAAACCAAGTATCTCTAA GGTCCCTCTTCCTCTTCCCAAAATAATTTGATCAGATGCTAAGTCTGTAA TTAGATGATAGGTATGAAAGTCAACACAAAAGCATAAATATGTGAATATC TGTCAATCTTTTAGAAATGGTGAAAAACCTGAATAAAATATAAATGCATC TATTTTCAGAAAAAAGTGAGAATTGGGGGTGGGGTAAGTTTGTTTTTGTT TTTGTTTTGTTGTTGTTGTTGTTTTTTGAGACAGAGTCTCACTCTGTCGC CCAGGCTGGAGTGCAGTGGTGCAATCTC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	358	0.0028	-377	c.138 others(16): Show c.138-1233_138-857del	INTS9	ENSG00000104299.15	transcript	ENST00000521022.6	protein_coding	2/16			chr8	TogoVar
ITGB5_chr3_124756948_124892365	124789381	ACAGAACC others(370): Show ACAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGC CTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATC AGAACCGCCTCTGACTAGACAGGGTTAT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0039 a0003c0004t0004g0039	1	352	0.0028	-377	c.169 others(19): Show c.1693+6630_1693+7006del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124789874	TCAGAACC others(370): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTAACAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGC CTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATC AGAACCGCCTCTGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0004 a0005c0010t0004	a0005c0010t0004g0350 a0005c0010t0004g0350	1	352	0.0028	-377	c.169 others(19): Show c.1693+6137_1693+6513del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
POLR3A_chr10_77970149_78034515	78030413	GTACTCCA others(370): Show GTACTCCATCACTTAATCATGAAATAATGTTGACTATATATATATATATA TATATATATATATAGTCAACATTATGGGTTTTTTTTGTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCTAGACTGGAGTGCAGTG GCGAAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCT CCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACGC CCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACTATGTTGGCC AGGCTGGTCTCGAATCCCTGACCTCGTGATCCGCCCGCCTCAGTCTCCCA AAGTGATAGGATTACAGGTGTGAGCCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp2 NA19043.hp2 HG02258.hp1 HG02559.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0321 a0001c0001t0008g0322 a0001c0001t0008g0323 a0001c0001t0008g0321 a0001c0001t0008g0322 a0001c0001t0008g0323	3	374	0.0080	-377	c.-13 others(11): Show c.-1383_-1007del	POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding		899		chr10	TogoVar
RPS24_chr10_78028863_78045697	78030413	GTACTCCA others(370): Show GTACTCCATCACTTAATCATGAAATAATGTTGACTATATATATATATATA TATATATATATATAGTCAACATTATGGGTTTTTTTTGTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCTAGACTGGAGTGCAGTG GCGAAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCT CCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACGC CCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACTATGTTGGCC AGGCTGGTCTCGAATCCCTGACCTCGTGATCCGCCCGCCTCAGTCTCCCA AAGTGATAGGATTACAGGTGTGAGCCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp1 NA19043.hp2 HG02258.hp1 HG02559.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0024 a0001c0001t0001g0041	3	430	0.0070	-377	c.-34 others(11): Show c.-3488_-3112del	RPS24	ENSG00000138326.21	transcript	ENST00000372360.9	protein_coding		3449		chr10	TogoVar
RPTOR_chr17_80539838_80971368	80748315	CGTGGCGG others(370): Show CGTGGCGGGAGGGCCTGTTGGGTGGATGGGGGGGCTGCGGTGTGTGTTTG GAGGCCGTGGCGGGAGGGCCTGTTGGGTGGATGGGGGGGCTGCGGTGTGT GTTTGGAGGCCGTGGCGGGAGGGCCTGTTGGGTGGATGGGGGGGCTGCGG TGTGTGTTTGGAAGCCTTGGCGGGAGGGCCTGTTGGATGGAGGGACTGCG GTGTGTGTTTAGAGGCCATGGCGGGAGGACCTGTTGGGTGGATGGAGGGG CTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGACCTGTTGGATGGAGGG ACTGTGGTGTGTGTTTAGAGGCCGTGGCGAGAGGACCTGTTGGGTGGATG GAGGGACTGCGGTGTGTGTTTAGAGGCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02451.hp1 HG02559.hp2 others(15): Show HG01255.hp2 HG02451.hp1 HG02559.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0006 others(11): Show a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0016 a0001c0020 a0001c0029 a0001c0045 a0001c0059 a0001c0064 a0001c0068 a0001c0088 a0001c0089	a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 others(14): Show a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 a0001c0006t0063 a0001c0006t0082 a0001c0006t0087 a0001c0008t0081 a0001c0011t0029 a0001c0016t0031 a0001c0020t0093 a0001c0029t0085 a0001c0045t0091 a0001c0059t0080 a0001c0064t0006 a0001c0068t0025 a0001c0088t0007 a0001c0089t0006	a0001c0004t0035g0004 a0001c0005t0074g0008 a0001c0005t0075g0009 others(15): Show a0001c0004t0035g0004 a0001c0005t0074g0008 a0001c0005t0075g0009 a0001c0006t0063g0160 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0008t0081g0019 a0001c0011t0029g0196 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0020t0093g0034 a0001c0029t0085g0012 a0001c0045t0091g0036 a0001c0059t0080g0006 a0001c0064t0006g0106 a0001c0068t0025g0104 a0001c0088t0007g0141 a0001c0089t0006g0159	18	196	0.0918	-377	c.655 others(17): Show c.655-5683_655-5307del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC12A7_chr5_1045384_1117063	1071972	CGGGCATC others(370): Show CGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGTATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCAT CACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACT TATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGTGAGCCCCCAGCACACT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	118	0.0085	-377	c.224 others(19): Show c.2241+1284_2241+1660del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SORCS2_chr4_7187538_7747827	7441918	CAGCCCAG others(370): Show CAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATCACCCTCCACC CCCTCCCCCAGCCCAGATCACCCTCCACCTCCTCTCACAGCCCAGGTCAC CATCCACCCCCTCCCCCAGCCCAGATCACCCTCCATCCCCTCCCCCAGCC CAGATCACCCTCCACCCCCTCCTTCAGCCCAGATCACCCTCCACCCCCTC CCCCAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGGTCGTCATCC ACCTCCTCTCACAGCCCAGGTCACCATCCACCCCCTCCCCCAGCCCAGAT CACCCTCCACCCCCTCCTTCAGCCCAGATCACCCTCCACCCCCTCCCCCA GCCCAGATCACCCTCCACCCCCTCCCTG	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0045 a0001c0002t0010g0045	1	168	0.0060	-377	c.548 others(19): Show c.548+45594_548+45970del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPTBN1_chr2_54451327_54676446	54517074	GAGTTTGA others(370): Show GAGTTTGAGTATTTCTTATCCCACTTAAGGTCTGAGTTGATGTTAATGCT GGAGGGGGATGGATAGTGAGGCATGTCCATCCTCCCCTTTTCCATCATGG CCTGAAAGAGATTTTCAGGCAACTCCGGGATGCCCTTGGCCAAGAGGGCC CATTCAGATGGTTGGGGGCCTTAGAATTTTATTTTTAGTTTACAGAAGGT TTGAAATAAGGGGATAGAAAAATACATACCAGGCAAATATTACTGTCAAT CAAAATAGAGTTCATATGTTAATAGAGATACAACAATATTTCATAATATT AACAGCTCATCTGGAAGATAAAATAATTATGATCTTGTAACATACTCAGG GAATGAGAAAGAAAATCTGATAATCATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02965.hp1 HG02572.hp2 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0003 a0001c0005t0008 a0001c0003t0003 a0001c0005t0008	a0001c0003t0003g0261 a0001c0005t0008g0056 a0001c0003t0003g0261 a0001c0005t0008g0056	2	370	0.0054	-377	c.-47 others(17): Show c.-47-9297_-47-8921del	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35			chr2	TogoVar
AHRR_chr5_316714_443285	317915	CACCCTGC others(369): Show CACCCTGCACCTCCCCCCATCCTGTACCTCCCCCCTTCACCCTCCACCTA CTCCCAACCCTGCATCTCCCCCCAACCCTGCACCTCCCCACATCCTTCAC CTCCCTCCTCACCTGGCACCTCCCCCCATCCTTTCCCTCCCCCAATCCTT CACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCC CTCCCACCCTGCATCTCCCCCCAACCCTGCACCTCCCCCCATCCTTTATT TCCCCCCACCCTGCATCTCCCCCCAACCCTGCACCTCCCCCCATCCTTTA CCTCCCCCCACCCTGCATCTCCCCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0255 a0002c0002t0001g0255	1	268	0.0037	-376	c.-39 others(11): Show c.-3914_-3539del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3798		chr5	TogoVar
ARL5C_chr17_39151894_39171161	39163650	CCAAAGTG others(369): Show CCAAAGTGCTGGGATTACAGGCATGAGCCACCGCATCCGGCCACAGTTTT GCTTTTTTTTTTTTTTTTTCCTTGAGATGTAGTCTCTCTCTGTCGCCCAG GTTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCTT TGTCGCCCAGGCTGGAGTACAGTGGCGCAGTCTCAGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGTGATTCTCCTTCCTCAGCCTCCAGAGTAGGTGG GATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTATATTTTTTTAGT AGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGTCCT CAGGTAGATCCACCCACTTCAGCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0295 a0009c0012t0002g0295	1	410	0.0024	-376	c.107 others(16): Show c.107+1053_108-793del	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	2/5			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83022500	GAGCTTAG others(369): Show GAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAG CTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTT AGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGC ACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACT GTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGGACTGTC CCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGGACTGTCCCC GGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGC CCACCTGCACCAGCGTGAACTCACGTT	G G	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19074.hp1 NA18947.hp2 NA19074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0010 a0001c0004t0001 a0001c0004t0010	a0001c0004t0001g0033 a0001c0004t0010g0034 a0001c0004t0001g0033 a0001c0004t0010g0034	2	266	0.0075	-376	c.298 others(17): Show c.298-8357_298-7982del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BRD1_chr22_49768283_49832873	49802137	GGAGACCA others(369): Show GGAGACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGA GACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGAGAC CAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGAGACCAA TGCCTCCACTCTCTTCCATTCCCCAACATCGCGGGGGCCGAGACCAATGC CTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGAGACCAATGCCTC CACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGAGACCAATGCCTCCAC TCTCTTCCTTTCCCCAACATCGCGGGGGCCGAGACCAATGCCTCCACTCT CTTCCATTCCCCAACATCGCAGGGGCC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02896.hp2 HG02897.hp1 HG02257.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	3	258	0.0116	-376	c.152 others(19): Show c.1524+1691_1524+2066del	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	3/12			chr22	TogoVar
C19orf12_chr19_29693937_29720261	29719358	ATATATTA others(369): Show ATATATTATATATATAATTATATATATATAATTTATATATATATAAATAT ATATATAAATTATATATATATATAATATATATATTTATATATATAATATA CATATTTATATATATATTATATATATTTATATATATATTATATTTATATA TATTTATATATATTATATATATATTATATATATAATATATAAATATATTT ATATAATATAAATATATATATTTATATAATATAAATATATATATTTATAT ATATATAAAATATATATAATATATAAGTTTGGACAAAGATATAGAATTAT ATAATATATAAGTTTGGACAAAGATATAGAATTATATAATATATAATATA ATATATCAGTATATATAATTGTACTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0173 a0001c0001t0010g0173	1	418	0.0024	-376	c.-46 others(11): Show c.-4620_-4245del	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4098		chr19	TogoVar
CACNA2D4_chr12_1786963_1923652	1921487	CCACAGCC others(369): Show CCACAGCCACGAGGCCCTACCTGGCTGGAGCTGGCTTGATTTTAAAAATC ATTCCAAATTACAAATTTTAAGAAGCTGATGAATGCCACCAAATTCACAG CCACGAGGCCCCACCTGGCTGGAGCTGGCTTGATTTTAAAAATCATTCCA AATTACAAATTTTAAGAAGCTGATGAATGCCACCAAATTCACAGCCACGA GGCCCCACCTGGCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTAC AAATTTTAAGAAGCTGATGAATGCCACCAAATTCACAGCCACGAGGCCCC ACCTGGCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATTT TAAGAAGCTGATGAATGCCACCAAATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02258.hp1 others(16): Show HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02809.hp1 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03540.hp2 HG03710.hp2 HG03831.hp1 NA19030.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0014 a0001c0039 a0005c0018 a0005c0036	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 a0001c0009t0001 a0001c0010t0001 a0001c0014t0002 a0001c0014t0003 a0001c0039t0001 a0005c0018t0013 a0005c0036t0013	a0001c0001t0001g0167 a0001c0001t0001g0216 a0001c0001t0001g0218 others(16): Show a0001c0001t0001g0167 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0010g0152 a0001c0002t0001g0212 a0001c0002t0008g0213 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0209 a0001c0003t0004g0183 a0001c0003t0004g0184 a0001c0003t0006g0210 a0001c0009t0001g0148 a0001c0010t0001g0211 a0001c0014t0002g0305 a0001c0014t0003g0304 a0001c0039t0001g0222 a0005c0018t0013g0208 a0005c0036t0013g0206	19	318	0.0598	-376	c.-33 others(11): Show c.-3390_-3015del	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding		2836		chr12	TogoVar
CACNA2D4_chr12_1786963_1923652	1921504	TACCTGGC others(369): Show TACCTGGCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATT TTAAGAAGCTGATGAATGCCACCAAATTCACAGCCACGAGGCCCCACCTG GCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATTTTAAGA AGCTGATGAATGCCACCAAATTCACAGCCACGAGGCCCCACCTGGCTGGA GCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATTTTAAGAAGCTGA TGAATGCCACCAAATTCACAGCCACGAGGCCCCACCTGGCTGGAGCTGGC TTGATTTTAAAAATCATTCCAAATTACAAATTTTAAGAAGCTGATGAATG CCACCAAATTCACAGCCACGAGGCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01243.hp2 HG01346.hp2 others(27): Show HG01123.hp1 HG01243.hp2 HG01346.hp2 HG01433.hp2 HG01884.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02258.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG03017.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG04228.hp1 NA18953.hp1 NA18957.hp1 NA18973.hp1 NA18979.hp2 NA19005.hp1 NA19043.hp2 NA19064.hp1 NA19066.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0044 a0001c0046 a0002c0008 a0003c0013 a0015c0034	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0002t0001 a0001c0002t0007 a0001c0002t0009 a0001c0003t0001 a0001c0003t0008 a0001c0004t0014 a0001c0005t0001 a0001c0005t0012 a0001c0006t0001 a0001c0006t0019 a0001c0009t0007 a0001c0009t0009 a0001c0044t0007 a0001c0046t0001 a0002c0008t0003 a0003c0013t0007 a0003c0013t0009 a0015c0034t0001	a0001c0001t0002g0080 a0001c0001t0002g0093 a0001c0001t0002g0101 others(27): Show a0001c0001t0002g0080 a0001c0001t0002g0093 a0001c0001t0002g0101 a0001c0001t0002g0172 a0001c0001t0002g0311 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0014g0318 a0001c0002t0001g0205 a0001c0002t0007g0008 a0001c0002t0009g0009 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0008g0303 a0001c0004t0014g0315 a0001c0005t0001g0255 a0001c0005t0012g0256 a0001c0006t0001g0219 a0001c0006t0019g0221 a0001c0009t0007g0002 a0001c0009t0007g0005 a0001c0009t0009g0006 a0001c0044t0007g0004 a0001c0046t0001g0220 a0002c0008t0003g0194 a0003c0013t0007g0007 a0003c0013t0009g0003 a0015c0034t0001g0173	30	318	0.0943	-376	c.-34 others(11): Show c.-3407_-3032del	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding		2853		chr12	TogoVar
CDC34_chr19_526760_547087	540443	GGCCGGGG others(369): Show GGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGC CAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGG GTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCG GAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTG GCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCC ACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTTTAGAATCC GGAGGCTGGGATGGCCAGGCCCCCGGGTTTAGAATCCAGAGGCTGGGATG GCCAGGCCCCCCGGTTTAGAATCCGGA	G G	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0073 a0001c0002t0003g0073	1	328	0.0031	-376	c.498 others(15): Show c.498-894_498-519del	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDH4_chr20_61247261_61945617	61783564	AAATGTAA others(369): Show AAATGTAAGCCCAGTTCCTCAGGACAGTTCTCGAGGCCCTCAGATGTCCT GTGCTCCCAGGAGAATATAAGCCTAGTTCCTCGGGACAGTTCTCGAGGCC CTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTTGGGAC AGTTCTCCGGGCCCTCAGATGTCCTGTGCCCCCGGGAGAAATGTAAGCCT AGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGA GAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTCC TGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCAAGG CCCTCCGATATCCTGTGCCCCCAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0065 a0001c0001t0017g0065	1	106	0.0094	-376	c.576 others(19): Show c.576+10402_576+10777del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61783771	CGGGACAG others(369): Show CGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGT AATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCC CCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCG ATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCT CGAGGCCCTCAGGTGTCTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCT TGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGT AATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCC CCAAGAGAAATGTAATCCCAGTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	106	0.0094	-376	c.576 others(19): Show c.576+10602_576+10977del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNST_chr1_246561456_246673595	246619878	CACACTCT others(369): Show CACACTCTACAGGGAGGACGGCTTCAGTCGTGCATACACACGATGGGCTC TGGGAACACTACAGGGAGGACGGCTTCAGTCGTGCATACACACGATGGGC TCTGGGAACACTCTACAGGGAGGACGGCTTCAGTCGTGCATACACACGAT GGGCTCTGGGCACACTCTACAGGGAGGACGGCTTCAGTCGTGCATACACA CGATGGGCTCTGGGAACACTACAGGGAGGACGGCTTCATCGTGGTGCATA CACACGATGGGCTCTGGGAACACTACAGGGAGGACGGCTTCATCGTGGTG CATACACACGATGGGCTCTGGGCACACTACAGGGAGGACGGCTTCATCGT GGTGCATACACACGATGGGCTCTGGGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01517.hp1 HG02486.hp1 others(7): Show HG00140.hp1 HG01517.hp1 HG02486.hp1 HG02615.hp1 HG03239.hp1 HG03239.hp2 HG03688.hp2 HG03834.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0002c0002t0001 a0002c0002t0006	a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 others(7): Show a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0128 a0001c0001t0001g0166 a0001c0001t0002g0077 a0001c0001t0003g0292 a0001c0001t0022g0085 a0002c0002t0001g0171 a0002c0002t0006g0030	10	320	0.0313	-376	c.380 others(16): Show c.380-1205_380-830del	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTNAP2_chr7_146111801_148425998	148365806	ATGCATGT others(369): Show ATGCATGTATACATGCATGTGTATGCATGTATACATGCATGTGTATGCAT GTATACATGTATGTGTATGCATGTATACATGTATGTGTATGCATGTATAC ATGCGTGTATGCATGTATACATGCGTGTATGCATGTATACATGCGTGTAT GCATGTATACATGTGTGTATGCATGTATACATGTGTGTATGCATGTATGC ATGTGTGTATGCATGTATGCATGTGTGTGTATGCATGTATGCATGTGTGT GTATGCATGTATGCATGTATGTGTGTGCATGTATACATGTATGTGTATGC ATGTATGCATGTATGTGTATGCATGTATGCATGTATGTGTATGCATGTAT GCATGTATGTGTGTGCATGTATACATG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp2 HG03139.hp2 others(1): Show HG02896.hp1 HG02922.hp2 HG03139.hp2 HG03239.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0004 a0001c0011 a0003c0007 others(1): Show a0001c0004 a0001c0011 a0003c0007 a0005c0020	a0001c0004t0005 a0001c0011t0016 a0003c0007t0017 others(1): Show a0001c0004t0005 a0001c0011t0016 a0003c0007t0017 a0005c0020t0005	a0001c0004t0005g0004 a0001c0011t0016g0019 a0003c0007t0017g0031 others(1): Show a0001c0004t0005g0004 a0001c0011t0016g0019 a0003c0007t0017g0031 a0005c0020t0005g0016	4	40	0.1000	-376	c.347 others(21): Show c.3476-17841_3476-17466del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COQ8A_chr1_226935294_226992544	226978542	ACCCTCCA others(369): Show ACCCTCCACACACCCCCCACAGCCACACACCACCTTACACACTCTCCACA CACTCTACCCTCTACACACCCGCCCACCTTACACTCCACACACCCGCCCA CCTCCTTACCCTCCACACACCTGCCCACCTCCTTACACACCCTCCACACA CCTGCACACCTCCTTACATCTTCCACACACCCACCTCATACCTGCACACC TCCTTACACACCCACCTCACACCCGCATACCTCCGTACACACCCACCTCT CACCCGCACAGCTCCTTACACACCCTCCATGCACACACCTCCTTACACAC CCACCTCATACCTGCACACCACCTTACACACCCTCCACACACCCACCAAT CACCCACTGAACACTGCACCTCCTTAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(85): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01257.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp2 HG02300.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18943.hp1 NA18957.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18977.hp1 NA18985.hp1 NA18985.hp2 NA18989.hp2 NA18995.hp2 NA19000.hp2 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19070.hp1 NA19070.hp2 NA19082.hp2 NA19083.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0005c0017 a0006c0015 a0007c0018	a0001c0001t0001 a0001c0002t0003 a0001c0006t0003 others(4): Show a0001c0001t0001 a0001c0002t0003 a0001c0006t0003 a0001c0008t0001 a0005c0017t0001 a0006c0015t0001 a0007c0018t0011	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(78): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0100 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0238 a0001c0001t0001g0262 a0001c0001t0001g0273 a0001c0001t0001g0296 a0001c0001t0001g0324 a0001c0001t0001g0378 a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0036 a0001c0002t0003g0101 a0001c0002t0003g0110 a0001c0002t0003g0207 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0236 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0252 a0001c0002t0003g0302 a0001c0002t0003g0312 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0003g0315 a0001c0006t0003g0075 a0001c0008t0001g0132 a0001c0008t0001g0133 a0001c0008t0001g0134 a0005c0017t0001g0004 a0006c0015t0001g0175 a0007c0018t0011g0148	88	412	0.2136	-376	c.730 others(17): Show c.730+1034_730+1409del	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
EHMT1_chr9_137614005_137841127	137818710	GCGCCGTG others(369): Show GCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC GAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAG AGGCCGACTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAG GGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTA CCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAG AGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTG AGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTG TACCGAGACCGTAGAGAGGCCGATTGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0153 a0001c0004t0001g0153	1	170	0.0059	-376	c.354 others(17): Show c.3540+573_3540+948del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26			chr9	TogoVar
GABRB3_chr15_26538552_26778066	26716752	AACAGCCC others(369): Show AACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAATGACAGCCCAGCTCTGGGGACATCCACCCAATGA CAGACAGCCCAGCTCTTGGGACCTCCACCCAGCGACAGTCCAGCTCTGGG GACCTCCCTCCGATGACAGCCCAGCTCTGCGGACATCCACCCAATGACAG CCCAGTTCTGGGGACATCCGCCCAATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01099.hp2 others(19): Show HG00280.hp2 HG00639.hp1 HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01258.hp2 HG01515.hp2 HG02055.hp1 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02895.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03654.hp2 HG03688.hp2 HG03927.hp2 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0024 a0001c0001t0028 a0001c0002t0007 a0001c0003t0002	a0001c0001t0001g0083 a0001c0001t0002g0021 a0001c0001t0002g0088 others(19): Show a0001c0001t0001g0083 a0001c0001t0002g0021 a0001c0001t0002g0088 a0001c0001t0002g0101 a0001c0001t0002g0118 a0001c0001t0003g0019 a0001c0001t0003g0103 a0001c0001t0003g0115 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0004g0114 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0008g0072 a0001c0001t0008g0095 a0001c0001t0024g0116 a0001c0001t0028g0017 a0001c0002t0007g0004 a0001c0002t0007g0020 a0001c0003t0002g0018	22	204	0.1078	-376	c.240 others(19): Show c.240+55274_240+55649del	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716779	AAATGACA others(369): Show AAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTG AGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCAC AGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCT CCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCAG CTCTGGGGACATCCACCCAATGACAGACAGCCCAGCTCTTGGGACCTCCA CCCAGCGACAGTCCAGCTCTGGGGACCTCCCTCCGATGACAGCCCAGCTC TGCGGACATCCACCCAATGACAGCCCAGTTCTGGGGACATCCGCCCAATG ACAGCCCAGCTCTGAGGACCTCCACCC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp2 HG03130.hp2 HG02723.hp1 HG02965.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0017 a0001c0001t0036 a0001c0001t0008 a0001c0001t0017 a0001c0001t0036	a0001c0001t0008g0081 a0001c0001t0017g0082 a0001c0001t0036g0204 a0001c0001t0008g0081 a0001c0001t0017g0082 a0001c0001t0036g0204	3	204	0.0147	-376	c.240 others(19): Show c.240+55247_240+55622del	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GPCPD1_chr20_5539439_5616006	5553899	AGCTGCAG others(369): Show AGCTGCAGTTAAGGTATCCAGAAGGTCTTGCTAAGATCACTTAACAAAGT GGCTACATTGAACAACAGATTTTCTTTTCTTTTTTTTTAAGACAGAGTCT CGCTCTGTCACCCAGGCTGCAGTGCAGTGGTGTGATCTCTGCTCACTGCA AGCTCCGACTCCTCGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTATTATTATTAT TATTATTTTGTATTTTTAGTAGAGACGGGTTTTCACCGTGTTAGCCAGGA TGGTCTCCATCTCCTGACCTTGTGATCCGCTCACCTCGGCCTCCCAGAGT GCTGGGATTACAGGCGTGAGCCATCAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(116): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01168.hp2 HG01243.hp2 HG01256.hp2 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18962.hp1 NA18973.hp1 NA18973.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19083.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0001c0010 a0004c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(16): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0025 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0049 a0001c0001t0050 a0001c0005t0010 a0001c0005t0035 a0001c0007t0034 a0001c0010t0003 a0004c0008t0003	a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0037 others(115): Show a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0037 a0001c0001t0003g0058 a0001c0001t0003g0111 a0001c0001t0003g0118 a0001c0001t0003g0140 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0200 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0232 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0274 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0304 a0001c0001t0003g0325 a0001c0001t0003g0329 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0004g0004 a0001c0001t0004g0139 a0001c0001t0004g0197 a0001c0001t0004g0205 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0234 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0372 a0001c0001t0010g0201 a0001c0001t0010g0207 a0001c0001t0011g0236 a0001c0001t0011g0302 a0001c0001t0011g0303 a0001c0001t0014g0209 a0001c0001t0014g0219 a0001c0001t0015g0305 a0001c0001t0015g0306 a0001c0001t0017g0231 a0001c0001t0017g0275 a0001c0001t0025g0273 a0001c0001t0030g0316 a0001c0001t0032g0321 a0001c0001t0033g0198 a0001c0001t0036g0281 a0001c0001t0049g0263 a0001c0001t0050g0379 a0001c0005t0010g0202 a0001c0005t0010g0290 a0001c0005t0035g0260 a0001c0007t0034g0286 a0001c0010t0003g0293 a0004c0008t0003g0269	119	386	0.3083	-376	c.182 others(19): Show c.1829+3670_1829+4045del	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding	19/19			chr20	TogoVar
GZMM_chr19_539053_554922	540443	GGCCGGGG others(369): Show GGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGC CAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGG GTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCG GAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTG GCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCC ACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTTTAGAATCC GGAGGCTGGGATGGCCAGGCCCCCGGGTTTAGAATCCAGAGGCTGGGATG GCCAGGCCCCCCGGTTTAGAATCCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	398	0.0025	-376	c.-36 others(11): Show c.-3628_-3253del	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3609		chr19	TogoVar
LMF1_chr16_848634_975984	960364	CACAGACT others(369): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAACACTGGATCACAACCCA GACACCATCTCATGGTGACAACACGGGATCACGACCCAGACACAGACTCA CGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAACAC GGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCA GACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCA CGGTGACAGCACGGGATCACGACCCAG	C C	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	294	0.0034	-376	c.194 others(17): Show c.194-6074_194-5699del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
MACROD2_chr20_13990516_16058197	15731365	TATTCTCT others(369): Show TATTCTCTGATGCCCTTGGGGGTTTGATTGTGGTATAAGGTGAGTTCAGT CAACTGGGTTGATTTCTGGAAGATTTTAAGGGGCCAAGGCTCAGCTCAGC ATTCCTGGTCTGAGTGCTTTAACTCTGGGGGGCTGGTACCAGGTCCCCAC ACTTGTTCTCTGGCACCTTGAGGTTAGAAACCAGCTGCACTAGAAAGGCC AACGTGTTTCCAGTCCACTGGCTACAACATTCCTGTGGGAGGTACTGACC AAAGCACTTCACTGGGGCAGTGGCAGTGGGATCCATGCTCACTTACACAT GCTAGGAGCCATGGCATTGCAGAGAGGTGCACATGCGTCGCCTGGGGCAG GATACTGGCAGAAACGAGTTTGCAGCA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18970.hp1 HG02257.hp1 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0002 a0002c0002t0002g0010 a0001c0001t0003g0002 a0002c0002t0002g0010	2	24	0.0833	-376	c.646 others(21): Show c.646-131379_646-131004del	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	8/17			chr20	TogoVar
MAPK10_chr4_86005405_86365053	86046153	TTGTATCC others(369): Show TTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTG GACTGAGATGATGGGGTTTTCTAAATATGCAATCATGTCATCTGCAAACA GGGACAATTTGACTTCCTGTCTTCCTATTTGAATACGCTTTATTTCTTTC TCTTGCCTGACTGCCCTGGCCAGAACTTCCAATACTATGTTGAATAGGAG TGGTGAGAGAGGGCATCCTTGTCTTGTGCTGGTTTTCAAAGGGAATGTTT CCAGCTTCTGCCCATTCAGTATGATATTTGCTATGGGTTTGTCATAAATA GCTGTTATTATTTTGAGATTTTGGGCTGAGACAATGGGGTTTTCTAGATA TACAATTGAAAATCTAGAAGAAATGGA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18962.hp1 HG00621.hp2 NA18962.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0057 a0001c0003t0051 a0001c0003t0057	a0001c0003t0051g0054 a0001c0003t0057g0061 a0001c0003t0051g0054 a0001c0003t0057g0061	2	170	0.0118	-376	c.111 others(21): Show c.1111-15098_1111-14723del	MAPK10	ENSG00000109339.24	transcript	ENST00000641462.2	protein_coding	11/13			chr4	TogoVar
PDCD6_chr5_266646_319974	317915	CACCCTGC others(369): Show CACCCTGCACCTCCCCCCATCCTGTACCTCCCCCCTTCACCCTCCACCTA CTCCCAACCCTGCATCTCCCCCCAACCCTGCACCTCCCCACATCCTTCAC CTCCCTCCTCACCTGGCACCTCCCCCCATCCTTTCCCTCCCCCAATCCTT CACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCC CTCCCACCCTGCATCTCCCCCCAACCCTGCACCTCCCCCCATCCTTTATT TCCCCCCACCCTGCATCTCCCCCCAACCCTGCACCTCCCCCCATCCTTTA CCTCCCCCCACCCTGCATCTCCCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0267 a0002c0004t0003g0267	1	360	0.0028	-376	c.34 others(11): Show c.3401_*3776del	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		2942		chr5	TogoVar
PXDN_chr2_1626887_1749515	1703802	GGCAACTC others(369): Show GGCAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGACAGCTC CAGGTGAAGGGGGGCAACTCCAGGTGAAGGGGGGGCAACTCCAGGTGAAG GAGGGCAACTCCAGGTGAAGGTGGGGGACAACTCCAGGTGAAGGGAGGGC AACTCCAGGTGAAGGTAGGGGACAACTCCAGGTGAAGGGGGGGCAACTCC AGGTGAAGGTAGGGGACAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAA GGGAGGGCAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGAGGGCA ACTCCAGGTGAAGGGGGGACAGCTCCAGGTGAAGGGGGGCAACTCCAGGT GAAGGGGGGGCAACTCCAGGTGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0063 a0001c0002t0023g0063	1	322	0.0031	-376	c.201 others(19): Show c.201-11044_201-10669del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
SLC12A7_chr5_1045384_1117063	1071973	GGGCATCA others(369): Show GGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGTATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCC CCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA GCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGT GAGCCCCCAGTGAGCCCCCAGCACACT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	118	0.0085	-376	c.224 others(19): Show c.2241+1284_2241+1659del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072512	GAGCCCCC others(369): Show GAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCA GTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGC CCCCAGTGAGCCCCCAGCACACTGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAG TGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCC CAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCC CCCAGCACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	118	0.0085	-376	c.224 others(18): Show c.2241+745_2241+1120del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC37A2_chr11_125058305_125095516	125059101	AGCCTCCC others(369): Show AGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTG TCTTTTTCATTAATGTATCCTCAGCACATAGCACTGTGCTTGGCACATAG TTGTCACTTAACAAATGTTTGTTTGTTTGTTTATTTATTTATTGAGACGG AGTCTTGCTGTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCA CTGAAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCT GAGTAGCTGGGATTACAGGCGTGTGCCAGCATGTCTGGCTAATTTTTGTA TTTTTAGAAGAGGAGGGTTTCATCTTGTTGGCCATGCTGGTTTTGAACTC CTGACCTCAGGTGATCCTCCCGCCTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	424	0.0024	-376	c.-42 others(11): Show c.-4266_-3891del	SLC37A2	ENSG00000134955.12	transcript	ENST00000403796.7	protein_coding		4203		chr11	TogoVar

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Search Results (Total: 10000 hits)