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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Select column to sort.

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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
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(633): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATGTATAT ATATATATATGTGTATATATATATATGTATATATATATATATATTATATA TGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAA TTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTA TCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02257.hp1 others(4): Show HG01884.hp1 HG02145.hp1 HG02257.hp1 HG02896.hp1 HG03516.hp1 HG03579.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0244 a0001c0001t0003g0288 a0001c0001t0005g0235 others(4): Show a0001c0001t0001g0244 a0001c0001t0003g0288 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0238 a0001c0001t0008g0202 a0001c0001t0008g0234	7	320	0.0219	640	c.98- others(655): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTGTATATATATATATGTATATATATATATA TGTGTATATATATATATGTATATATATATATATATTATATATGCATATTA TGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATTCTGTTAG ACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCATGTTA GGAACTGTGGTCATTTTGTGGCCACTGAGGACAAAAAAAATGGGTGTCAC TGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRDM16_chr1_3064203_3443621	3181360	G G	GCAGTCTT others(633): Show GCAGTCTTACGGTCTTACACACGGTCTTACACACACGGTCTTACACACAG TCTTACACACGCAGTCTTACACACGCAGTCTTACACAAGCAGTCTTACAC ACGCGGTCTTACACAAGCAGTCTTACGGTCTTACACACAGTCTTACACAT GGCCTTACGCATGGTCTTACACACGCAGTCTTACACAAGCGGTCTTACAC AAGCGGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACACAT GCAGTCTTACACACGGTCTTACATATGGTCTTACACATGCAGTCTTACAC ACGGTCTTACACATGCAGTCTTACACACGGTCTTACACACGGTCTTACAC AGTCTTACACGCGCAGTCTTACACACGGTCTTACACACGGTCTTACACAC GCAGTCTTACACACGGTCTTACACACGGAGTCTTACACACGGAGTCTTAC ACACAGTCTTACACATGCAGTCTTACACACGCAGTCTTACACACGCAGTC TTACACGCGGCCTTACACACGCAGTCTTACACGCGGTCTTACACACGCAG TCTTACACGCGGTCTTACGGTCTTACACACGCAGTCTTATGGTCTTACAC ACGGTCTTACACACGCAGTCTTACACACGGTCTTACACACA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0185 a0003c0011t0001g0185	1	210	0.0048	640	c.38- others(655): Show c.38-4765_38-4764insCAGTCTTACGGTCTTACACACGGTCTTACA CACACGGTCTTACACACAGTCTTACACACGCAGTCTTACACACGCAGTCT TACACAAGCAGTCTTACACACGCGGTCTTACACAAGCAGTCTTACGGTCT TACACACAGTCTTACACATGGCCTTACGCATGGTCTTACACACGCAGTCT TACACAAGCGGTCTTACACAAGCGGTCTTACACACGGTCTTACACACGGT CTTACACAGTCTTACACATGCAGTCTTACACACGGTCTTACATATGGTCT TACACATGCAGTCTTACACACGGTCTTACACATGCAGTCTTACACACGGT CTTACACACGGTCTTACACAGTCTTACACGCGCAGTCTTACACACGGTCT TACACACGGTCTTACACACGCAGTCTTACACACGGTCTTACACACGGAGT CTTACACACGGAGTCTTACACACAGTCTTACACATGCAGTCTTACACACG CAGTCTTACACACGCAGTCTTACACGCGGCCTTACACACGCAGTCTTACA CGCGGTCTTACACACGCAGTCTTACACGCGGTCTTACGGTCTTACACACG CAGTCTTATGGTCTTACACACGGTCTTACACACGCAGTCTTACACACGGT CTTACACACA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16			chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(633): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCT CTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCT CCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCT CCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCC CTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCC TCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTC TCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCT CTCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCC CTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCC CTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCT CTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0172 a0003c0005t0001g0172	1	210	0.0048	640	c.439 others(659): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCCCCTCTCTCCCCCTCCCTCTCTCCCC CACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCT CCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTC CCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCT TCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTC CCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCT TCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCT CATCCCCTTCCTCTTTCTCTCCTCTCTCTTCCCCTCCCTCCCTCTCTCCT CCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTC TCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCT CCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTC TCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(633): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCT CTCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTC CCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTC CCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCC TCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCT CCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCT CTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTC TCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCC CTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCC CTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCT CTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0152 a0001c0002t0005g0152	1	210	0.0048	640	c.439 others(659): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCCCCTCTCTCCCCCTCCCTCTCTCCCC CACCTCCCCCCTCCCTCTCTCCCCTCCTTCTCTCTTCCCCTCCTTCTCTC CCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCC CCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTT CCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCC CTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTT CTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTC ATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCT CCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTC TCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCT CCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTC TCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(633): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTC TCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTC CCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTC CCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCC TCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCT CCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCT CTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTC TCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCC CTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCC CTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCT CTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02970.hp1 HG01123.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0007 a0002c0003t0004 a0001c0004t0007 a0002c0003t0004	a0001c0004t0007g0038 a0002c0003t0004g0068 a0001c0004t0007g0038 a0002c0003t0004g0068	2	210	0.0095	640	c.439 others(659): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCCCTCTCTCCCCCTCCCTCTCTCCCCC ACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTC CCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCC CCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTT CCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCC CTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTT CTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTC ATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCT CCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTC TCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCT CCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTC TCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(633): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTC TCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCC TCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCC TCCCTCTCTGTCCCCCTCCCCTCTCATCCCCTTCCTCTTTCTCTCCCTCC CTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCC TCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTC TCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCTTCCTCTTTCTC TCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCC CTCTCTCCCCCTCCCTCTGTCCCATCCCTCTCTCCCCCTCCCTCTCTCCC CTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCT CTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0015 a0009c0028t0015	a0009c0028t0015g0209 a0009c0028t0015g0209	1	210	0.0048	640	c.439 others(659): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCC CCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTC TCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCT CCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCCTCTCATCCCCT TCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTC CCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCT TCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCT CATCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCC CCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCATCCCTCTC TCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCT CCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTC TCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTDSS2_chr11_445279_496399	459097	G G	GACACTCC others(633): Show GACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGGACCTGGGTTA GACGTGAGGGGACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGAATGTAGGACCTGGGTTAGACGTGAGGGGACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGAATGTAGGACCTGGGTTAGACGTGAGGGGACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGAATGTAGGACCTGGGTTAGACGTGAGGG GACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	346	0.0029	640	c.183 others(655): Show c.183-959_183-958insAATGTAGGACCTGGGTTAGACGTGAGGGGA CACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTG GATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGGAC CTGGGTTAGACGTGAGGGGACACTCCGGTGGATGTCGGACCTGGGTTAGA CGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACA CACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTG GATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGGAC CTGGGTTAGACGTGAGGGGACACTCCGGTGGATGTCGGACCTGGGTTAGA CGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACA CACTCCGGTGAATGTAGGACCTGGGTTAGACGTGAGGGGACACTCCGGTG GATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGAC CTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGA CGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACA CACTCCGGTG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
RASA3_chr13_113972783_114137623	114080987	T T	TCGGCAGA others(633): Show TCGGCAGAGGGCCGTACACCTAGAACACCAAGAGTGCCCCACGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACC TAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCA ATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCC ACGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCACGGCAGAGGGCCGTCCACC TAGAACACCAAGAGTGCCCCACGGCAGAGGGCCGTCCACCTAGAACACCA AGAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCC ACGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACC TAGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCA ATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCC ACGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0010 a0002c0004t0009g0010	1	67	0.0149	640	c.56- others(655): Show c.56-7151_56-7150insTGGGGCACTCTTGGTGTTCTAGGTGGACGG CCCTCTGCCGTGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCG AGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTA TTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCT AGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACGG CCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCG AGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACTC TTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACTCTTGGTGTTCT AGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACGG CCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCG AGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTC TTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCT AGGTGGACGGCCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGTACGG CCCTCTGCCG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(633): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCGGGCCAGCCGCCCCGTCCCGGAGGGAGGCGCGGGGGGGGGTCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp2 HG02257.hp1 others(1): Show HG01167.hp1 HG02109.hp2 HG02257.hp1 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0005 a0001c0004t0010 a0001c0004t0022 a0001c0002t0005 a0001c0004t0010 a0001c0004t0022	a0001c0002t0005g0132 a0001c0002t0005g0134 a0001c0004t0010g0120 others(1): Show a0001c0002t0005g0132 a0001c0002t0005g0134 a0001c0004t0010g0120 a0001c0004t0022g0121	4	204	0.0196	640	c.880 others(657): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCGGGACGGGG CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTC ACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(633): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGTCAGCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGTCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0127 a0001c0005t0026g0127	1	204	0.0049	640	c.880 others(657): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTC ACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(633): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	276	0.0036	640	c.132 others(657): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RPA3_chr7_7631518_7723607	7678884	T T	TATATTTA others(633): Show TATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATT TAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	308	0.0033	640	c.-75 others(659): Show c.-758+6945_-758+6946insGTATTTATAAACTAAATATGTAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTA AATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATA TGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTA AATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAA ACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTT ATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATAT ATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACT AAATATGTAAATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(633): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACA TATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATA AACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTT AGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTT AGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATAT ATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	308	0.0033	640	c.-75 others(659): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGT AAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGT AAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAAT ATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACT AAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATA AACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTT TATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATA TGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAA TATATGTTTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(633): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACA TATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATA AACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTT TATAAATATATATTTATATATTTAGTTTATAAATATATATTTACTTATTT AGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTT AGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTT AGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATAT ATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	308	0.0033	640	c.-75 others(659): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGT AAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATAAGTAAATATATATTTATAAACTAAATATAT AAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAAT ATATAAATATATGTTTATAAACTAAATATATAAATATATATTTATAAACT AAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATA AACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTT TATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATA TGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAA TATATGTTTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(633): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCTGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCAT CCATCCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCAC CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG03486.hp2 HG02257.hp1 HG02717.hp1 HG03486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0033 a0001c0008t0001g0179 a0001c0008t0001g0181 a0001c0008t0001g0033 a0001c0008t0001g0179 a0001c0008t0001g0181	3	378	0.0079	640	c.937 others(657): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCTGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCC ATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCC ATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCAT CCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SATL1_chrX_85087284_85248779	85088046	G G	GTATTTAT others(633): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATGTATAA ATACGTACATATTTATACATATATGTATAAATACATATACATATTTATAC ATATATGTATAAATACATATACATATTTATACATATATGTATAAATACAT ATACATATTTATACATATATGTATAAATACATATACATATATGTATAAAT ACATATACATATTTATACATATATGTATAAATACATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	232	0.0043	640	c.43 others(651): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATATGTATTTATACATATATGTATAAA TATGTATATGTATTTATACATATATGTATAAATATGTATATGTATTTATA CATATATGTATAAATATGTATATGTATTTATACATATATGTATAAATATG TACGTATTTATACATATATGTATAAATATGTACGTATTTATACATATATA TGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTA TTTATACATATATATGTATAAATATGTACGTATTTATACATATATATGTA TAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTA TACATATATATGTATAAATATGTACGTATTTATACATATATATGTATAAA TATGTATGTATTTATACATATATATGTATAAATATGTATGTATTTATACA TATATATGTATAAATATGTATGTATTTATACATATATATGTATAAATATG TATGTATACATATATGTATAAATATGTATGTATTTATACATATATGTATT AATACGTATTTATACATATATGTATTAATACGTATTTATACATATATGTA TAAATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4237		chrX	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(633): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGC TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTG TTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTT CAATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCT GGCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCG GCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGG CTGGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	454	0.0022	640	c.684 others(655): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCG CGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCT GCCTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTG GCTAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAG GCTGGCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCA AAGTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTT TTAATATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCA CTTGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(633): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG CTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTG TTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTT CAATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCT GGCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCG GCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGG CTGGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02630.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0347 a0001c0001t0002g0086 a0001c0001t0001g0347 a0001c0001t0002g0086	2	454	0.0044	640	c.684 others(655): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGG CTAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGG CTGGCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAA AGTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTT TTAATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCA CTTGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(633): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG TTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTG TTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTT CAATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCT GGCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCG GCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGG CTGGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0003 a0014c0023t0003	a0014c0023t0003g0366 a0014c0023t0003g0366	1	454	0.0022	640	c.684 others(655): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGG CTAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGG CTGGCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAA AGTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTT TTAATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCA CTTGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SENP7_chr3_101319205_101518212	101439968	C C	CGGCCAGC others(633): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTTGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTCGGGGGGGTCAGCCCCCCCGCCCAGCCAGCTGCCCTGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGTCA GCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01071.hp1 others(9): Show HG00140.hp2 HG00280.hp2 HG01071.hp1 HG01106.hp1 HG01516.hp1 HG01517.hp1 HG02886.hp2 HG02970.hp1 HG03098.hp1 HG03669.hp2 HG03710.hp1 NA20805.hp1	a0003 a0007 a0003 a0007	a0003c0004 a0007c0010 a0003c0004 a0007c0010	a0003c0004t0002 a0007c0010t0002 a0003c0004t0002 a0007c0010t0002	a0003c0004t0002g0092 a0003c0004t0002g0105 a0003c0004t0002g0106 others(9): Show a0003c0004t0002g0092 a0003c0004t0002g0105 a0003c0004t0002g0106 a0003c0004t0002g0107 a0003c0004t0002g0108 a0003c0004t0002g0110 a0003c0004t0002g0111 a0003c0004t0002g0113 a0003c0004t0002g0115 a0003c0004t0002g0116 a0007c0010t0002g0103 a0007c0010t0002g0104	12	370	0.0324	640	c.284 others(659): Show c.284+18986_284+18987insAGGCAGGGGGGCCGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTG GCTGGGCGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACAGGGCAGCTGGCTGGGCGGGGGGGCTG ACCCCCCCGACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCAA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439968	C C	CGGCCAGC others(633): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGTTTGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTCGGGGGGGTCAGCCCCCCCGCCCAGCCAGCTGCCCTGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGTCA GCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0098 a0003c0004t0002g0098	1	370	0.0027	640	c.284 others(659): Show c.284+18986_284+18987insAGGCAGGGGGGCCGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTG GCTGGGCGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACAGGGCAGCTGGCTGGGCGGGGGGGCTG ACCCCCCCGACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCAA ACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(633): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCC CCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCC CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	150	0.0067	640	c.77- others(657): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCC CCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCC CTCCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCC CTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(633): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCT CCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCA TCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCTTCCC CCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0022 a0001c0001t0008g0022	1	150	0.0067	640	c.77- others(657): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCAC CCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCC CTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCC CTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(633): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCC CCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCC CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	158	0.0063	640	c.22+ others(657): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCC CCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCC CTCCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCC CTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(633): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCT CCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCA TCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCTTCCC CCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0158 a0001c0001t0021g0158	1	158	0.0063	640	c.22+ others(657): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCAC CCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCC CTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCC CTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(633): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 NA18998.hp2 HG03490.hp2 HG03492.hp1 NA18998.hp2	a0001 a0001	a0001c0013 a0001c0153 a0001c0013 a0001c0153	a0001c0013t0002 a0001c0153t0048 a0001c0013t0002 a0001c0153t0048	a0001c0013t0002g0008 a0001c0153t0048g0052 a0001c0013t0002g0008 a0001c0153t0048g0052	3	380	0.0079	640	c.-32 others(657): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(633): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGAGAGGAGGGAGAATAGAGGAGGA GAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAGAAGAGAAAGGAGGAGGGAAGGAG GAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAG GGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGG AGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAG AGAAGAGGAGGTGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGA GGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAG GGGAGGAGGAGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGT CCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0242	1	350	0.0029	640	c.624 others(655): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTC TCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCA CCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCC TCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTT TCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTCTCCCACTTCTC CCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCT CCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTC CCCTCCTCCTTTCTCCCTCCCCCTCCCTCATCTTTTCTCCCTCCTCCTCC TCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCTTCTCCCCCTTCAC TTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTCTTTTCTCCCTCC ACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(633): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGA GAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGG GGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGT CCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18940.hp2 NA18952.hp1 HG02074.hp2 NA18940.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0080 a0001c0001t0002g0136 a0001c0001t0002g0053 a0001c0001t0002g0080 a0001c0001t0002g0136	3	350	0.0086	640	c.624 others(655): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCC TCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTT CTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTC CCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCT CCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTC CCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTC CTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTC ACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCC ACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(633): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TAATATAAATATATTATATATAATATATATAATATATATATTATATATAA TATATATAATATATATATTATATATATTATATATATTATATATAATATAA ATATATTATATATAATATATATAATATAAATATATTATATATAATATATA TAATATAAATATATTATATATATTATATATAATATAAATATATTATATAT ATTATATATAATATAAATATATTATATATATTATATATAATATAAATATA TTATATATATTATATATAATATAAATATATTATATATATTATATATAATA TAAATATATTATATATATTATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTATATATATTATATATAATATAAATATATTATA TATAATATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0182 a0003c0006t0003g0182	1	346	0.0029	640	c.-70 others(657): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATATTATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATAATATATATAATATATATAATATA TATATTATATATATTATATATAATATATATATTATATATATTATATATAA TATATTTATATTATATATTATATATAATATATTTATATTATATATTATAT ATAATATATTTATATTTATATAATATATAATATATTTATATTTATATATA ATATATATAATATATTTATATTTATGTATAATATATATAATATATTTATA TTTATGTATAATATATATAATATATTTATATTTATGTATAATATATATAA TATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(633): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TAATATAAATATATTATATATAATATATATAATATATATATTATATATAA TATATATAATATATATATTATATATATTATATATATTATATATAATATAA ATATATTATATATAATATATATAATATAAATATATTATATATAATATATA TAATATAAATATATTATATATATTATATATAATATAAATATATTATATAT ATTATATATAATATAAATATATTATATATATTATATATAATATAAATATA TTATATATATTATATATAATATAAATATATTATATATATTATATATAATA TAAATATATTATATATATTATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTATATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG02056.hp2 others(7): Show HG01192.hp1 HG01891.hp1 HG02056.hp2 HG02165.hp1 HG02523.hp2 HG02602.hp2 HG02723.hp2 NA18747.hp1 NA18968.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0003t0004	a0001c0001t0003g0006 a0001c0001t0003g0175 a0001c0001t0004g0176 others(7): Show a0001c0001t0003g0006 a0001c0001t0003g0175 a0001c0001t0004g0176 a0001c0001t0004g0185 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0203 a0001c0001t0004g0223 a0001c0001t0016g0202 a0001c0003t0004g0201	10	346	0.0289	640	c.-70 others(657): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATAATATATATAATATATATAATATA TATATTATATATATTATATATAATATATATATTATATATATTATATATAA TATATTTATATTATATATTATATATAATATATTTATATTATATATTATAT ATAATATATTTATATTTATATAATATATAATATATTTATATTTATATATA ATATATATAATATATTTATATTTATGTATAATATATATAATATATTTATA TTTATGTATAATATATATAATATATTTATATTTATGTATAATATATATAA TATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(633): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TAATATAAATATATTATATATAATATATATAATATATATATTATATATAT TATATATAATATATATATTATATATATTATATATAATATATATAATATAA ATATATTATATATAATATATATAATATAAATATATTATATATATTATATA TAATATAAATATATTATATATATTATATATAATATAAATATATTATATAT ATTATATATAATATAAATATATTATATATATTATATATAATATAAATATA TTATATATATTATATATAATATAAATATATTATATATATTATATATAATA TAAATATATTATATATATTATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTATATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0009	1	346	0.0029	640	c.-70 others(657): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATATTATATATAATATATATAATATA TATATTATATATAATATATATAATATATATATTATATATATTATATATAA TATATTTATATTATATATTATATATAATATATTTATATTATATATTATAT ATAATATATTTATATTTATATAATATATAATATATTTATATTTATATATA ATATATATAATATATTTATATTTATGTATAATATATATAATATATTTATA TTTATGTATAATATATATAATATATTTATATTTATGTATAATATATATAA TATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLIT3_chr5_168656740_169306139	168726528	G G	GAGAGGGA others(633): Show GAGAGGGAGGCAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGG GAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGA GGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGG GAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGTGG GAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGG GAGGGAGGGAGAGAGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGT GGGAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGG GTGGGAGGGAGGGAGAGGGAGGGTGGGAGAGGGGGAGGCAGGGAGGGAGG GAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGA GGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGA GGCAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGG GAGAGGGAGGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp2 HG03209.hp2 others(1): Show HG02486.hp2 HG03139.hp2 HG03209.hp2 NA19030.hp1	a0004 a0008 a0011 a0004 a0008 a0011	a0004c0025 a0004c0039 a0008c0027 others(1): Show a0004c0025 a0004c0039 a0008c0027 a0011c0028	a0004c0025t0006 a0004c0039t0006 a0008c0027t0010 others(1): Show a0004c0025t0006 a0004c0039t0006 a0008c0027t0010 a0011c0028t0006	a0004c0025t0006g0013 a0004c0039t0006g0087 a0008c0027t0010g0125 others(1): Show a0004c0025t0006g0013 a0004c0039t0006g0087 a0008c0027t0010g0125 a0011c0028t0006g0014	4	132	0.0303	640	c.227 others(659): Show c.2271-2045_2271-2044insACCTCTCCCCCTGCGTCCCTCTCCCT CCCTGCCTCCCTCTCCCTCCCTCTCTCCCTGCCTCCCTCTCCCTCCCTCT CCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCC CTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCT CCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCTCCCACCCTCCCT CTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCC CTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCT CTCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCC CTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCCCTCCCTCCCTCTCCCT CCCTCTCCCTCCCTCCCACCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCC CTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCT CGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCC CTCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCT CCCTGCCTCCCTCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(633): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGGCAGA GGAGGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGG AGGGGGAAGGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAG GGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGA GGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGA GGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGG GAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGG GAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGG AGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGA GGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAGGGGGGGAGG GGGAGAGGGGAGAGGAGGGGGAGGGGAGGGTGGCGGGAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	640	c.12 others(651): Show c.1218_*1219insATCTCCCGCCACCCTCCCCTCCCCCTCCTCTCCC CTCTCCCCCTCCCCCCCTCCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCC TTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCC TCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCT CCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCC TCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCC CCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCCT TCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTC CCCCTCCTCTGCCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCC TCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCA CCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(633): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAGCTGGTCTCAGTGGCTCATGCCTGTAATCCTTGCATATCTTGGG ATGGCAAGGAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGG GCAACACACTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATG GTGCATGCCTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGC TTGAGCCCAGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCAC TCCAGCCAAGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAA GGCCAACCAATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCT GTCATTTTTAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCA AATTTATAACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGAC AGATTTTGCCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	150	0.0067	640	c.531 others(659): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTG GTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTTG ACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGGG ACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGGA ATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGATG CTCCCTCCTTGCCATCCCAAGATATGCAAGGATTACAGGCATGAGCCACT GAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGGGTAAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACT GTGGTATGATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGAT CCTCCTGCTTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1221592	C C	CTCTGCCT others(633): Show CTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCT CTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCT GCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTCT CTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCT CTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCC CTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGT CTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTGTGTCC CTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCATCTGCCT CTCTCTGTCTCTGTCTCTGCTTCTCTCTGTCTCTCTCTTTGTCCCTCTCT GTCTCTGTCTCTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGT CTCTCCCTGTCTCTGTCTCTCTGTCACTGTCTCTGCCTCTGTCTCTGCCT CTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTTTCAGT CTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG01169.hp1 others(6): Show HG01074.hp1 HG01109.hp1 HG01169.hp1 HG01175.hp2 HG02071.hp2 HG02132.hp1 HG02165.hp1 HG03927.hp2 NA18961.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0124 a0001c0002t0001g0029 a0001c0002t0001g0031 others(6): Show a0001c0001t0001g0124 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0126 a0001c0002t0001g0145 a0002c0003t0001g0021 a0002c0003t0001g0061 a0002c0003t0001g0129 a0002c0003t0001g0185	9	190	0.0474	640	c.719 others(659): Show c.719+12362_719+12363insTCTGCCTCTGTCTCTGCCTCTCTGTG TCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTT TGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTC TGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTC TCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTC TCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCC CCTCCCTCTGTCTCTCTGTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTC TCTCTCTGTCTCTGCATCTGCCTCTCTCTGTCTCTGTCTCTGCTTCTCTC TGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTAGCTC TGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCAC TGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTC TGTCTCTCTCTGTCCCTTTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTG TCTCTGTCTCTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(633): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATAT AATATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	302	0.0033	640	c.12+ others(655): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA AATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAAT ATATAAAATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(633): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAATATATATTATAGT TTATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATAT TATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02683.hp1 HG01071.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0195 a0001c0001t0001g0196	2	302	0.0066	640	c.12+ others(655): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAATATATATTATAGTTTATATAATATATAAAATATATTATAGTTTA TATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(633): Show CATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAA TATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTT ATATAATATATAAAATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	302	0.0033	640	c.12+ others(655): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAATA TATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATAT ATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SPIRE2_chr16_89823475_89876319	89852655	G G	GATCCCAT others(633): Show GATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCATACGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCC ATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCTGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGCCCTCCCTCTCACCCCCCG GATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0027	1	356	0.0028	640	c.646 others(657): Show c.646-1623_646-1622insATCCATCTTCCATCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCATACGTCTTCTCTCTCACCCCCCGGATCCCA TGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCTGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGCCCTCC CTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCC CCGCATCCCATG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852655	G G	GATCCCAT others(633): Show GATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCATACGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCC ATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCTGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGCCCTCCCTC TCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG02040.hp2 others(8): Show HG00438.hp2 HG00621.hp1 HG02040.hp2 HG02056.hp1 HG02129.hp1 NA18940.hp1 NA18954.hp2 NA18960.hp1 NA18990.hp1 NA19070.hp1 NA19074.hp1	a0002 a0005 a0016 a0002 a0005 a0016	a0002c0002 a0005c0007 a0005c0014 others(1): Show a0002c0002 a0005c0007 a0005c0014 a0016c0015	a0002c0002t0002 a0002c0002t0014 a0005c0007t0002 others(2): Show a0002c0002t0002 a0002c0002t0014 a0005c0007t0002 a0005c0014t0002 a0016c0015t0002	a0002c0002t0002g0022 a0002c0002t0002g0028 a0002c0002t0002g0034 others(8): Show a0002c0002t0002g0022 a0002c0002t0002g0028 a0002c0002t0002g0034 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0047 a0002c0002t0014g0044 a0005c0007t0002g0041 a0005c0014t0002g0021 a0016c0015t0002g0049	11	356	0.0309	640	c.646 others(657): Show c.646-1623_646-1622insATCCATCTTCCATCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCATACGTCTTCTCTCTCACCCCCCGGATCCCA TGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CTGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGCCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCC CTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGCATCCCATG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(633): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCC AGCGGGGGGTGGGGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTG GAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	422	0.0024	640	c.64 others(651): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAAC TCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACCCCACC CCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCTCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCA ACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(633): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGGCC CAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGG AGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	422	0.0024	640	c.64 others(651): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAA CTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCA ACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(633): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGGGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTG GAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	422	0.0024	640	c.64 others(651): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAA CCCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(633): Show TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGG GGGAGGCCCAGCGGGGGGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTG GAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	640	c.64 others(651): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTG GGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCTCCCCCCCCCCAGGCAACTCCACCCCCCGCTGG GCCTCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAA CCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
STK38L_chr12_27239286_27330959	27311587	T T	TATAAAAT others(633): Show TATAAAATTTTCCAGTCTATAACATTTTCACATGATAGTATCTCTAGTAA TTATGTGTCCGAGAAATCAGTGGCAAAATCCCCAAAAGTTACACAAATTT GCTTTAGCTAACATTTATAGATATGGTAGAGGTTTTATATTATAACAATA ATATAACATAAAGTTACTATAATTGTTACTATTTCTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTTTTTTTT TTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGT CATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGATTATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	374	0.0027	640	c.394 others(655): Show c.394-775_394-774insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTCCTTTCTTTTTTTTTTTTATTATACTCTAAGT TTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGT GCCATGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATA TCTCCCAATGCTATCCCTCCCCCCTCCCCCCGACCCCACCACAGTCCCCA GAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCC CACCTATGAGTGAGATTATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGT TTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATAT GAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCC ACATTTTCTTAATCCAGTCTATCATAAAATTTTCCAGTCTATAACATTTT CACATGATAGTATCTCTAGTAATTATGTGTCCGAGAAATCAGTGGCAAAA TCCCCAAAAGTTACACAAATTTGCTTTAGCTAACATTTATAGATATGGTA GAGGTTTTATATTATAACAATAATATAACATAAAGTTACTATAATTGTTA CTATTTCTTT	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SUFU_chr10_102498972_102638535	102637512	A A	ATATTATA others(633): Show ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTTTATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTTTATATTATATAACT ATATATAATATATAATATATATATTTTATATTATATAACTATATATTATA TATAATATATAACTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	268	0.0037	640	c.73 others(651): Show c.7357_*7358insTATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTTTATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT TTATATTATATAACTATATATAATATATAATATATATATTTTATATTATA TAACTATATATTATATATAATATATAACTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3978		chr10	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(633): Show ACCATCCCCCATCGTATCCACCCACCCATCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCC ACCCACCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTA TCCACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCAT CCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTC CCATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACC ATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCC CACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCA TCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACC TACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACC CACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACC CATCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACC CACCCATCCACCCACCCACCTATCCTATTCATCCATCCACC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02965.hp1 HG02109.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0161 a0001c0001t0007g0031 a0001c0001t0002g0161 a0001c0001t0007g0031	2	258	0.0078	640	c.113 others(659): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA TCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCA CCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCA CCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTAT CCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATC CTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCAT CCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCA TCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCA TCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATC CACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTAC CTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTAC CCATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCAC CCACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTAT TCATCCATCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46772220	T T	TACACATA others(633): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACATACACATATATATGTA TACACACACACATATATATGTATACACACACATATATATGTATACACACA CATATATATGTATACACACACATATATATGTATACACACACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACACATACATATATATGTATACACACATA CATATATATGTATACACACATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	112	0.0089	640	c.62+ others(655): Show c.62+9373_62+9374insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACATACACATATATATGTA TACACACATACACATATATATGTATACACACATACACATATATATGTATA CACACATACACATATATATGTATACACACATACACATATATATGTATACA CACATACACATATATATGTATACACACATACACATATATATGTATACACA CATACACATATATATGTATACACACACACATATATATGTATACACACACA TATATATGTATACACACACATATATATGTATACACACACATATATATGTA TACACACACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACACATACATATATATGTATACACACATACATA TATATGTATACACACATACATATATATGTATACACACATACATATATATG TATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46772609	T T	TATATATG others(633): Show TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	112	0.0089	640	c.62+ others(655): Show c.62+9766_62+9767insTGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(633): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCT CTGTCTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCT CTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCT CTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCT GTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCT TTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTGT CTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCT CTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03579.hp2 HG02965.hp2 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0010 a0003c0006t0040 a0001c0001t0010 a0003c0006t0040	a0001c0001t0010g0252 a0003c0006t0040g0251 a0001c0001t0010g0252 a0003c0006t0040g0251	2	256	0.0078	640	c.924 others(657): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGA GAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGACAGAGAGAGA GAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGA GAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGA GACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar

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