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
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(658): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AGGAGGAGGGGAGGAGGAGAGAAGAGGAAGGAGGGGAGGAGGAGAGAAGA GGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAG GGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGAGGAGGAGAGGAAAGAGT CCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAGG AGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0144 a0001c0001t0018g0144	1	386	0.0026	665	c.-46 others(676): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCTC CTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCC TCCTTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCT CCTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTC CCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTC TCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTC TCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCC CTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCC TTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCT CATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCC TCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTC CTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(658): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGG AGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02145.hp1 HG02717.hp2 others(2): Show HG00741.hp2 HG02145.hp1 HG02717.hp2 HG02818.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0069 a0001c0001t0001 a0001c0001t0022 a0001c0001t0069	a0001c0001t0001g0033 a0001c0001t0022g0018 a0001c0001t0069g0100 a0001c0001t0001g0033 a0001c0001t0022g0018 a0001c0001t0069g0100	5	386	0.0130	665	c.-46 others(676): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCGGACTCTTTCCTCTCCTCCTCC CCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCTCC TCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCT CCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTCCT CTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCCTC CCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTC TCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTC TCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCC CTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCC TTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCT CATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCC TCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTC CTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(658): Show CAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGC TCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGAT GGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTA AAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACA ATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGT TTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAAT TCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTG AGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCA GTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATC ATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGT AATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAA GGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGC AAGGCTCTGTCTAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	286	0.0035	665	c.52 others(676): Show c.5260_*5261insTTTTAGACAGAGCCTTGCTCTGGCTGGAATGCAG TGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATT CTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACC ATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTG GACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCT CCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACT TTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACC ATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGT GCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCT CTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCG GCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAG CACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTT CAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACC TCCATCATCCACTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(658): Show GGAAAAAGGAAGGAAGGGAGGGAGGGAGGGGAGGGAAGGAAGGGAGGGGA GGGAGGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGA AGGGAGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGA AGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAG GAGGGAAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGA AGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGG GAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAG GGAGGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGA GGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGG AAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAG AAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAA GAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGG AGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAG AAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0019 a0019	a0019c0033 a0019c0033	a0019c0033t0001 a0019c0033t0001	a0019c0033t0001g0015 a0019c0033t0001g0015	1	88	0.0114	665	c.507 others(684): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGGAGGGAGGGAG GGGAGGGAAGGAAGGGAGGGGAGGGAGGAAAAAGGAAGGAAGGAAGGAGG GTAAGGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGA AGGGAGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGA GGGAAGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAAA GAAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGA ACAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGG AAGAAAGAAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGGAAG AAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGA GGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGG AGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGAAGG AAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAG GAGGAAAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGA AGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(658): Show GGAAAAAGGAAGGAAGGGAGGGAGGGAGGGGAGGGAAGGAAGGGAGGGGA GGGAGGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGA AGGGAGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGA AGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAG GAGGGAAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGA AGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGG GAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAG GGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGA AGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGG AAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAG AAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGA GGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGG AGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAG AAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0013 a0013	a0013c0069 a0013c0069	a0013c0069t0004 a0013c0069t0004	a0013c0069t0004g0068 a0013c0069t0004g0068	1	88	0.0114	665	c.507 others(684): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGGAGGGAGGGAG GGGAGGGAAGGAAGGGAGGGGAGGGAGGAAAAAGGAAGGAAGGAAGGAGG GTAAGGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGA AGGGAGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGA GGGAAGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAAA GAAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGA ACAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGG AAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAG GGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGA GGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGA AGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGG AAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAG GAGGAAAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGA AGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LGR6_chr1_202188799_202324761	202204732	C C	CACACACC others(658): Show CACACACCTCCAAACACACACACCCCTCCTTCAAACACACACACACCTCC AAACACACACACACCCCTAACACACACCTCCTCCAAACACAAACCTCCAA ACACACACACACCTCCAAACACACACACACCTAACACACACCTCCTCCAA ACACACACACACTTCCAAACACACACACACCTCCAAACACACATACATCT CCAAACACACACACACCTAACACACGCACCTAACACACACTTCCTTCAAA CACACACACCTCCAAAGACACACACACACCTAACACACACCTCCTTCAAA CACACACACCTAACACACACCTCCTTCAAACACACACACACACCTCCAAA CACACACACACCTAACACACACCTCCTTCAAACACACACACACCTCCAAA CACACACACCTAACACACACCTCCTTCAAACACACACACACCTCTCCAAA CACACACACACACCTAACACACCCCCCTTCAAACACACACACCTCTCCAA AAACACACACACACCTAACACACACCTCCTTCAAACACACACACACCTCC AAACACAAACACACCTAACACACCCCTCCTTCAAACACACACACCTCAAA ACACACACACCTCAAAACACACACACCTCCAAAAACACACACATACCTAA CACACACCTCCTTCAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	262	0.0038	665	c.212 others(684): Show c.212+10537_212+10538insCTCCAAACACACACACCCCTCCTTCA AACACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTC CAAACACAAACCTCCAAACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTCCAAACACACACACACTTCCAAACACACACACACCTC CAAACACACATACATCTCCAAACACACACACACCTAACACACGCACCTAA CACACACTTCCTTCAAACACACACACCTCCAAAGACACACACACACCTAA CACACACCTCCTTCAAACACACACACCTAACACACACCTCCTTCAAACAC ACACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAAC ACACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACAC ACACACACCTCTCCAAACACACACACACACCTAACACACCCCCCTTCAAA CACACACACCTCTCCAAAAACACACACACACCTAACACACACCTCCTTCA AACACACACACACCTCCAAACACAAACACACCTAACACACCCCTCCTTCA AACACACACACCTCAAAACACACACACCTCAAAACACACACACCTCCAAA AACACACACATACCTAACACACACCTCCTTCAAACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(658): Show CCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGGGCCA CTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCC GGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACATAC CCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02132.hp2 HG02135.hp1 others(3): Show HG01255.hp2 HG02132.hp2 HG02135.hp1 NA18747.hp1 NA18960.hp2 NA19011.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0004 a0002c0003 a0003c0005 others(1): Show a0001c0004 a0002c0003 a0003c0005 a0009c0016	a0001c0004t0002 a0001c0004t0029 a0002c0003t0002 others(2): Show a0001c0004t0002 a0001c0004t0029 a0002c0003t0002 a0003c0005t0002 a0009c0016t0029	a0001c0004t0002g0176 a0001c0004t0029g0150 a0002c0003t0002g0059 others(3): Show a0001c0004t0002g0176 a0001c0004t0029g0150 a0002c0003t0002g0059 a0002c0003t0002g0060 a0003c0005t0002g0095 a0009c0016t0029g0056	6	296	0.0203	665	c.368 others(682): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAGG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATG TAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(658): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCC TGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA TATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCT TCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAG GCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAG GTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	448	0.0022	665	c.56 others(676): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTG TCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCCG CCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCTCGGCTAATATTTTTGTATTTTTAGTAG AGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGGGCGTG GTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGGAT CATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGAAACC CCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCC TGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(658): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCCGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCT TCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAG GCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAG GTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02970.hp2 HG02976.hp2 others(1): Show HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0310 a0001c0001t0001g0320 others(1): Show a0001c0001t0001g0253 a0001c0001t0001g0310 a0001c0001t0001g0320 a0001c0001t0001g0341	4	448	0.0089	665	c.56 others(676): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTG TCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCCG CCTCCCGGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGTAG AGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGGGCGTG GTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGGAT CATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGAAACC CCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCC TGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(658): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATTGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCT TCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAG GCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAG GTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02630.hp1 HG03486.hp2 HG02258.hp2 HG02630.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0351 a0001c0001t0001g0356 a0001c0001t0010g0429 a0001c0001t0001g0351 a0001c0001t0001g0356 a0001c0001t0010g0429	3	448	0.0067	665	c.56 others(676): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTG TCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCCG CCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGTAG AGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCAATCTCCTGACCTCGT GATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGGGCGTG GTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGGAT CATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGAAACC CCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCC TGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579243	C C	CCATCACC others(658): Show CCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	362	0.0028	665	c.391 others(680): Show c.391+746_391+747insATCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCATCACCACCACCACCACCACCACCAC	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCCCT others(658): Show CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCTCTCTCCTCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCC CTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTC TCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTC CCTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTACCCTCTCTCCTCCGCTCCCCT CCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCTCTCCTCCCCTCCTCTC TCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTC CCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTC CCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTC CCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTC CCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCTCC CCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCT CCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0115 a0001c0006t0002g0115	1	318	0.0031	665	c.-49 others(676): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGTGGGGAGGGGAG GAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGAG AGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGAG GGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAG CAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAG GGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAG GGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGA GGGTAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGA AGGGAGGGGAGAGGAGGGGAGGAGAGGGGAGGGAGGGGAAGGGAGGGGAG AGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGG AGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGG AGGGGAGGGGAGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGA GGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
NFILZ_chr19_8625633_8686151	8656420	C C	CTTCTCTC others(658): Show CTTCTCTCTGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCC CCCTTCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTACA GCCCACCTTGTGCACAAAGCCAGTGTTCTCCCTGCAGCCCACCTTCTCCC TGCAGCCCGCCTTCTCCCAGAAACCCTCCTGCCTTCTCCACGCAGCCCAT CTTCTCTCTGAAGCCCACCTTCTCCCCACAGCCCACCTCCTCCCGCAGCG CACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCCCTGAA GCCCACCTTCTCCCTGAAGCCCACCTCCTCCCACAGCCCACCTCCTCCCT GAAGCCCACCTTCTCTCTGAAGCCCACCTCCTCCCGCAGCGCACCTCCTC CCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTT CTCCCTACAGCCCACCTTGTGCACAAAGCCAGTGTTCTCCCTGCAGCCCA CCTTCTCCCAGAAACCCTCCTGCCTTCTCCACGCAGCCCATCTTCTCTCT GAAGCCCACCTTCTCCCCACAGCCCACCTCCTCCCGCAGCCCACCTCCTC CCTGAAGCCCACCTCCTCCCACAGCCCACCTCCTCCCTGAAGCCCACCTC CTCCCTGAAGCCCCCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0249 a0001c0001t0020g0249	1	366	0.0027	665	c.-16 others(686): Show c.-163-18130_-163-18129insTCTCTCTGAAGCCCACCTCCTCCC GCAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTC CCTGAAGCCCACCTTCTCCCTACAGCCCACCTTGTGCACAAAGCCAGTGT TCTCCCTGCAGCCCACCTTCTCCCTGCAGCCCGCCTTCTCCCAGAAACCC TCCTGCCTTCTCCACGCAGCCCATCTTCTCTCTGAAGCCCACCTTCTCCC CACAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCCCTTCTT CCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTGAAGCCCACCT CCTCCCACAGCCCACCTCCTCCCTGAAGCCCACCTTCTCTCTGAAGCCCA CCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCC CACCTCTTCCCTGAAGCCCACCTTCTCCCTACAGCCCACCTTGTGCACAA AGCCAGTGTTCTCCCTGCAGCCCACCTTCTCCCAGAAACCCTCCTGCCTT CTCCACGCAGCCCATCTTCTCTCTGAAGCCCACCTTCTCCCCACAGCCCA CCTCCTCCCGCAGCCCACCTCCTCCCTGAAGCCCACCTCCTCCCACAGCC CACCTCCTCCCTGAAGCCCACCTCCTCCCTGAAGCCCCCTT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(658): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTA TATATACACAGTATGTATACTGCATACAGTATGTATACTGTATACATACT GCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTA TATATACACTATACAGTATGTATACTGTATATATACACTATACAGTATGT ATACTGTATATATACACAATACAGTATGTATACTGTATATATACACAATA CAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATAT ACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATAT ATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTAT ATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGT ATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0005 a0002c0009t0005	a0002c0009t0005g0077 a0002c0009t0005g0077	1	362	0.0028	665	c.-75 others(684): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAG TATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTAT ATATACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTA TAGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGTATAC ATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATA CAGTATACATACTGTATGCAGTATACATACTGTGTATATATACACAGTAT ACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATAC ATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC ATACAGTATACATACATACAGTATACATACATACAGTATACATGCTGTAT ACAGTATACATGCTGTATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(658): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCG GCCGCCTCGCTCACAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	294	0.0034	665	c.902 others(680): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCGGCCGCCTCGCTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(658): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGA GCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCCAGTCCCTCCCCACAGAGCCGAGTCCGTCCCCACAGAGCCCCCCCAGT CCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCCTCC CCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCAC AGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGC CCGAGTCCGTCCCCACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCACTC CCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTCCC CACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCCTCCCCACAG AGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCC CACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0276 a0001c0031t0001g0276	1	324	0.0031	665	c.140 others(682): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGACGGACTCGGGCTCTGTGGGGA GGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGAC TCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGG GGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGGCT CTGTGGGGACGGACTCGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGG GAGGGACTGGGGGGCTCTGTGGGGAGGGACTGAGGGGCTCTGGGGAGGGA CTGGGGGGCTCTGTGGGGAGGGACTTGGGGGCTCTGTGGGGAGGGACTGG GGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
PCSK5_chr9_75885673_76367975	76305451	T T	TGTATCCA others(658): Show TGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTA GTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAG ACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCT ATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCT ATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATT CTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACA CGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATT TTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACT GTAGCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAG TCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGA CAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTAGCCATGTGCCCCTA TGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTA TAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTC TGAGAGTTTAATTACC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0011 a0011	a0011c0043 a0011c0043	a0011c0043t0024 a0011c0043t0024	a0011c0043t0024g0136 a0011c0043t0024g0136	1	166	0.0060	665	c.360 others(684): Show c.3605-2792_3605-2791insGCCATGTGCCCCTATGTTAAGCACTT GACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAAT TATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAAT TACTGTAGCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCAT TTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTA GAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACCGTATCCATGTGCC CCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAAT CCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGG ATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTG ACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATT ATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATT ACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATT TAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAG AGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	28/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDGFA_chr7_492258_524846	494645	G G	GGGGGACG others(658): Show GGGGGACGGGGGATCTGTGAGGGGGATGGAGGGGATCCGTGAGGGGGACG GGGGAATCCGTGAGGGGACGGGGGATCTGTGAGGGGGATGGGGGATCTGT GAGGGGGATGGGGGATCTGTGAGGGGGACAGGGGATCCGTGAGGGGACGG GGGATCTGTGAGGGGGATGGGGGATCCGTGAGGGGGATGGAGGGGATCTG TGAGGGGGATGGAGGGGATCCGTGAGGGGGACGGGGGATCTGTGAGGGGG ATGGGGGATCTCTGAGGGGGACGGGGGATCTGTGAGGGGACGGGGGATCT GTGAGGGGGATGGGGGATCCGTGAGGGGGATGGAGGGGATCTGTGAGGGG GATGGAGGGGATCTGTGAGGGGGACGGGGGATCTGTGAGGGGGACGGGGG ATCCGTGAGGGGGACGGGGGATCTGTGAGGGGGACAGGGGATCTGTGAGG GGGACAGGGGATCTGTGAGGGGACGGGGGATCTGTGAGGGGGATGGGGGA TCCGTGAGGGGGACGGGGGATCCGTGAGGGGGATGGGGGATCCGTGAGGG GACGGGGGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGACAGGGGAT CTGTGAGGGGGACGGGGGATCCGTGAGGGGGATGGGGGATCTGTGAGGGG GACGGGGGATCTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	302	0.0033	665	c.39 others(676): Show c.3918_*3919insTCACAGATCCCCCGTCCCCCTCACAGATCCCCCA TCCCCCTCACGGATCCCCCGTCCCCCTCACAGATCCCCTGTCCCCCTCAC AGATCCCCCATCCCCCTCACAGATCCCCCGTCCCCTCACGGATCCCCCAT CCCCCTCACGGATCCCCCGTCCCCCTCACGGATCCCCCATCCCCCTCACA GATCCCCCGTCCCCTCACAGATCCCCTGTCCCCCTCACAGATCCCCTGTC CCCCTCACAGATCCCCCGTCCCCCTCACGGATCCCCCGTCCCCCTCACAG ATCCCCCGTCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCTC CATCCCCCTCACGGATCCCCCATCCCCCTCACAGATCCCCCGTCCCCTCA CAGATCCCCCGTCCCCCTCAGAGATCCCCCATCCCCCTCACAGATCCCCC GTCCCCCTCACGGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCC CTCACGGATCCCCCATCCCCCTCACAGATCCCCCGTCCCCTCACGGATCC CCTGTCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCCCCATCCCCC TCACAGATCCCCCGTCCCCTCACGGATTCCCCCGTCCCCCTCACGGATCC CCTCCATCCCCCTCACAGATCCCCCGTCCCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding		2612		chr7	TogoVar
PKP3_chr11_389209_409908	398485	T T	TGCGTCAC others(658): Show TGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCG CACACACCTGCATCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCA TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC CTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCC GCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCC CTACCCCCGCACACAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03704.hp1 NA19088.hp1 HG02148.hp1 HG03704.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0015 a0001c0001t0001g0056 a0001c0001t0001g0057	3	216	0.0139	665	c.106 others(682): Show c.1069-507_1069-506insGCGTCACCTCCGTACCCCCGCACACACC TCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCG CACACACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC CTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCC GCACACACCTGCGTCACCTCCCTACCCCCGCACACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PKP3_chr11_389209_409908	398485	T T	TGCGTCAC others(658): Show TGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCG CACACACCTGCATCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCA TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CTGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC CTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCC GCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCC CTACCCCCGCACACAC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	216	0.0046	665	c.106 others(682): Show c.1069-507_1069-506insGCGTCACCTCCGTACCCCCGCACACACC TCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCG CACACACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCTGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC CTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCC GCACACACCTGCGTCACCTCCCTACCCCCGCACACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATAATTA others(658): Show TATAATTATATATAATTATATATAATTATATAATTATATATAATTGTATA TAATTATTTATTATATAATTATATATTATTTATTATATAATTATATAATT ATATATTATTTATTATATATTATATAATATATAATTATATATTATTTATT ATATAATATATAATTATATATTATTTATTATATAATTATATATTATTTAT TATATATATTATTTATTATATAATTATATATTATGTATTATATAATTATA TAATTATATATTATGTATTATATAATTATATATTATGTATTATATAATTA TATAATTATATATTATGTATTATATAATTATATATTATTTATTATATAAT TATATAATTATATATTATTTATTATATAATTATATAATTATATATTATTT ATTATATAATTATATAATTATATATTATTTATTATATAATTATATAATTA TATATTATTTATTATATAATTATATATTATTTATTATATAATTATATATT ATTTATTACATAAATATATATTATTTATTACATAAGTATATATCACTTAT TATATAATTGCATATAATTATTTATTATATAATTGCATATAATTATTTAT TATATAATTGTATATAGTTATTTATTATATAATTGTATATAGTTATTTAT TATATAATTCTATATA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0091 a0001c0003t0004g0091	1	106	0.0094	665	c.862 others(682): Show c.862+3417_862+3418insAATTATATATAATTATATATAATTATAT AATTATATATAATTGTATATAATTATTTATTATATAATTATATATTATTT ATTATATAATTATATAATTATATATTATTTATTATATATTATATAATATA TAATTATATATTATTTATTATATAATATATAATTATATATTATTTATTAT ATAATTATATATTATTTATTATATATATTATTTATTATATAATTATATAT TATGTATTATATAATTATATAATTATATATTATGTATTATATAATTATAT ATTATGTATTATATAATTATATAATTATATATTATGTATTATATAATTAT ATATTATTTATTATATAATTATATAATTATATATTATTTATTATATAATT ATATAATTATATATTATTTATTATATAATTATATAATTATATATTATTTA TTATATAATTATATAATTATATATTATTTATTATATAATTATATATTATT TATTATATAATTATATATTATTTATTACATAAATATATATTATTTATTAC ATAAGTATATATCACTTATTATATAATTGCATATAATTATTTATTATATA ATTGCATATAATTATTTATTATATAATTGTATATAGTTATTTATTATATA ATTGTATATAGTTATTTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(658): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0024 a0002c0007t0024	a0002c0007t0024g0070 a0002c0007t0024g0070	1	210	0.0048	665	c.387 others(684): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(658): Show GTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGG TGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGAT GGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATGAT GGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGT AATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGG TGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTG ATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGT GATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGG TGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTG ATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	374	0.0027	665	c.-46 others(676): Show c.-4663_-4662insTGATGATGGTGATGGTGATGGTGGTGGTGGTGAT AATGGTGATGGTGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGAT GGTGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTG ATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGGTGATGAT GGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGT GATGGGGGTGGTGGTAATGGTGATGATGGTGATGATGATGGTGGTGGTGG TGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAAT GATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGA TGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATG GTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(658): Show GTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGG TGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGAT GGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGT AGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGATGATGGTGG TGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGGTAATGG TGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTG ATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01070.hp2 HG01346.hp1 others(4): Show HG00099.hp2 HG01070.hp2 HG01346.hp1 HG01496.hp2 HG03017.hp2 NA20129.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0096 others(4): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0096 a0001c0001t0001g0098 a0004c0006t0001g0067 a0004c0006t0001g0068 a0004c0006t0001g0071	7	374	0.0187	665	c.-46 others(676): Show c.-4663_-4662insTGATGATGGTGATGGTGATGGTGGTGGTGGTGAT AATGGTGATGGTGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGAT GGTGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTG ATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGGTGATGAT GGTGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGG TGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTA ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGT GGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGGTGG TGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATG GTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RAC2_chr22_37220270_37249269	37227472	C C	CACCCCTC others(658): Show CACCCCTCCCACGCCATACACCCCCCTCCCACGCCTCCCACACACCATAC ACCCCTCCCCACACCATACACCCCTCCCACGCCTCCCACACCATACAAGC CCTCCCGTGCCATACACCCCTCCCACAGCATATAACCCCTCCCACGCCAT AAAACCCCTCTCACACCATAACACCCCCCTCCCCACACCTCCCACGCCAT ACAACCCCTCTCACACCATACACCGCTCCCATGCCATACACCCCTCCCAC GCCTCCCACGCCATACAACCCTCCCATGACATACAGCCCCTCCTACGCCA TACAACCCCTCCTGTGCCATACACCCCTCCCACGTCATACACCCCCTCCC ACGTCATACATCCCCTCCCATGCCTTCCACACCATACAACCCCCTCCCAC GCCATACACCCCTCCCACGCCATACACCCCTCCCACGCCATACACCCTCC CATGCCATACACCCCTCCCCATGCCATACACCCCTCCCACGCCATACACC CCTCCCACGCCATACACCCTCCATGCCATACACCCCTCCCATGCCATACA CCCCTCCCACGCCATACACCCTCCCACGCCATACACCCCTCCCACGCCAT ACACCCTCCCAAGCCATACACCCCTCCCATGTCTCCCACGCCATACAAGC CCTCCTGTGCCATACA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	448	0.0022	665	c.449 others(680): Show c.449-670_449-669insTGTATGGCACAGGAGGGCTTGTATGGCGTG GGAGACATGGGAGGGGTGTATGGCTTGGGAGGGTGTATGGCGTGGGAGGG GTGTATGGCGTGGGAGGGTGTATGGCGTGGGAGGGGTGTATGGCATGGGA GGGGTGTATGGCATGGAGGGTGTATGGCGTGGGAGGGGTGTATGGCGTGG GAGGGGTGTATGGCATGGGGAGGGGTGTATGGCATGGGAGGGTGTATGGC GTGGGAGGGGTGTATGGCGTGGGAGGGGTGTATGGCGTGGGAGGGGGTTG TATGGTGTGGAAGGCATGGGAGGGGATGTATGACGTGGGAGGGGGTGTAT GACGTGGGAGGGGTGTATGGCACAGGAGGGGTTGTATGGCGTAGGAGGGG CTGTATGTCATGGGAGGGTTGTATGGCGTGGGAGGCGTGGGAGGGGTGTA TGGCATGGGAGCGGTGTATGGTGTGAGAGGGGTTGTATGGCGTGGGAGGT GTGGGGAGGGGGGTGTTATGGTGTGAGAGGGGTTTTATGGCGTGGGAGGG GTTATATGCTGTGGGAGGGGTGTATGGCACGGGAGGGCTTGTATGGTGTG GGAGGCGTGGGAGGGGTGTATGGTGTGGGGAGGGGTGTATGGTGTGTGGG AGGCGTGGGAGGGGGGTGTATGGCGTGGGAGGGGT	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RASA3_chr13_113972783_114137623	114099760	C C	CCCCCCAC others(658): Show CCCCCCACAGCCCCCCACAGCCCCCCCACAGCAGCCCCCCCACAGCCCCC CCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCACAGCACCCCCCACA GCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCACAGCCCCCCACAGCCC CCCACATCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCC ACAGCACCCCCCACAGCCCCCACAGCAGCCCCCCGTAGCCCCCACCCCAC AGCCCCCCACAGCCCCCCACAGCCCCCACAGCAGCCCCCCCACATCAGCC CCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCAC AGCCCCCACAGCAGCCCCCCCACATCAGCCCCCCCACAGCCCCCCACAGC CCCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCACAGCAGCCCCCCCA CATCAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCCACAGCC CCCCACAGCCCCCACAGCAGCCCCCCCACATCAGCCCCCCCACAGCCCCC ACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCACAGCAG CCCCCCCACATCAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCCCCC CACAGCCCCCCCACAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	67	0.0149	665	c.56- others(682): Show c.56-25924_56-25923insCTGTGGGGGGGCTGTGGGGGGCTGTGGG GGCTGTGGGGGGGCTGTGGGGGGGCTGATGTGGGGGGGCTGCTGTGGGGG CTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGG GGGGCTGATGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGCTGTGGGGGG CTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGATGTGGGGGGGCTGC TGTGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGC TGTGGGGGGGCTGATGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGCTGT GGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGATGTGGG GGGGCTGCTGTGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGTGGGGG CTACGGGGGGCTGCTGTGGGGGCTGTGGGGGGTGCTGTGGGGGGCTGTGG GGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGATGTGGGGGGCTGTGGGGG GCTGTGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGGTGC TGTGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGGCTGTGGG GGGGCTGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RIMBP2_chr12_130391133_130721299	130393038	T T	TGTGTCTG others(658): Show TGTGTCTGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTCA CCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGATG ACCCGGTCACCGTCATCACGTGTGTCCGTCAGTTACCTGGTGAATATTGA ATGTTGTGATGACCTGGTCACCGTCATCACGTGTGTCCATCAGTTACCTG GTGAATATTGAACGTTGTGATGACCCGGTCACCGTCATCACGTGTGTCTG TCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTCATC ACGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTC ACCGTCATCACGTGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTG ATGACCTGGTCACCGTCATCACGTGTGTCCATCAGTTACCTGGTGAATAT TGAATGTTGTGATGACCTGGTCACCGTCATCACGTGTGTCCATCAGTTAC CTGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTCATCACGTGTGT CTGTCAGTTAACTGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTC ATCACGTGGGTGCGTCAGTTACCTGGCGAATATTGAGTGTTGTGATGACC CAGTCACCGTCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03540.hp2 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0095 a0001c0002t0001g0054 a0001c0002t0001g0095	2	180	0.0111	665	c.43 others(676): Show c.4322_*4323insGTGATGACGGTGACTGGGTCATCACAACACTCAA TATTCGCCAGGTAACTGACGCACCCACGTGATGACGGTGACCGGGTCATC ACAACATTCAATATTCACCAGTTAACTGACAGACACACGTGATGACGGTG ACCGGGTCATCACAACATTCAATATTCACCAGGTAACTGATGGACACACG TGATGACGGTGACCAGGTCATCACAACATTCAATATTCACCAGGTAACTG ATGGACACACGTGATGACGGTGACCAGGTCATCACAACATTCAATATTCA CCAGGTAACTGACGGACACACGTGATGACGGTGACCGGGTCATCACAACA TTCAATATTCACCAGGTAACTGACGGACACGTGATGACGGTGACCGGGTC ATCACAACATTCAATATTCACCAGGTAACTGACAGACACACGTGATGACG GTGACCGGGTCATCACAACGTTCAATATTCACCAGGTAACTGATGGACAC ACGTGATGACGGTGACCAGGTCATCACAACATTCAATATTCACCAGGTAA CTGACGGACACACGTGATGACGGTGACCGGGTCATCACAACATTCAATAT TCACCAGGTAACTGACGGACACGTGATGACGGTGACCGGGTCATCACAAC ATTCAATATTCACCAGGTAACTGACAGACAC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3094		chr12	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(658): Show AGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGGA CAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAG GGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGG GAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAG GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGG CGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGG GAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGGGAG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0005 a0001c0001t0012g0005	1	133	0.0075	665	c.351 others(684): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCC CTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCC CGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTC GCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGC CCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(658): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGAG GAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAGG ACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGA GGAGGAAGAGGAGGAGAAGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAA GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAG GAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGA GGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGAGG AGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAACAGGAG GAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	203	0.0049	665	c.-12 others(684): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCTTCTCCTCCTCTTCCTCCTCCTCCTCCT GTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCT GTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCTCCTCCT CCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SDK1_chr7_3296252_4274000	4264045	C C	CGTAGACC others(658): Show CGTAGACCTCTCCTGAGTGAGGGTGGCCGCGTAGAACTCTCCTGAGTGGG GGAGGCCGCGTAGACCTCTCCTGAGTGGGGGAGGCCGCGTAGACCTCTCC TGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGCCGCGTAGAC CTCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGAGGGAGGCCG CGTAGATCTCTCCTGAGTGAGGAGGCCGTGTGGATCTCTCCTGAGTGAGG GAGGCCGTGTGGACCTCTCCTGGGGTAAGGAACGCCGCGTGGACCTCTCC TGGGGTAAGGAAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTG GACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAG GCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAG TGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCT CTCCTGAGTGGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAAGCCGTG TGGACCTCTCCTGGGGTAAGGAAGGCCGTGTAGACCTCTCCTGAGTGAGG GAGGCTGCGTAGATCTCTCCTGAGTGGGGAGGCGGTGTGGACCTCTCCTG GGGTAAGGAAGGCCGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0084 a0001c0002t0040g0084	1	116	0.0086	665	c.638 others(684): Show c.6382-1061_6382-1060insAGGGTGGCCGCGTAGAACTCTCCTGA GTGGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGGAGGCCGCGTAGACC TCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGCCGCG TAGACCTCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGAGGGA GGCCGCGTAGATCTCTCCTGAGTGAGGAGGCCGTGTGGATCTCTCCTGAG TGAGGGAGGCCGTGTGGACCTCTCCTGGGGTAAGGAACGCCGCGTGGACC TCTCCTGGGGTAAGGAAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCC GCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGA GGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTC CTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTG GACCTCTCCTGAGTGGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAAG CCGTGTGGACCTCTCCTGGGGTAAGGAAGGCCGTGTAGACCTCTCCTGAG TGAGGGAGGCTGCGTAGATCTCTCCTGAGTGGGGAGGCGGTGTGGACCTC TCCTGGGGTAAGGAAGGCCGTGTAGACCTCTCCTGAGTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(658): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC CTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCACCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCC CCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp2 HG01169.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0104 a0001c0001t0002g0068 a0001c0001t0001g0104 a0001c0001t0002g0068	2	150	0.0133	665	c.77- others(682): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCACC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCC CCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	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(658): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC CTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCACCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCC CCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp2 HG01169.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0002g0040 a0001c0001t0001g0048 a0001c0001t0002g0040	2	158	0.0127	665	c.22+ others(682): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCACC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCC CCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA5_chr3_48462876_48509174	48499782	T T	TGAACCTG others(658): Show TGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACGATTGCACT CCAGTCTAGATGCCAGAGCAAGACTCTGTCTCAAAAAAAATAAAAATAAA AAAGAAATACAAGTTTTTTTGTTTTTTGTTTTTTTTTTTGAGACAGAGTC TCTTGCTCTGTCACCCAGCCAGGAGTGCAATGGTGCAATCTCGGCTCACT GCAATCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGGTTACAGAAACCCACCACCACGTCCGGCTAGTTTTTTGTGT TTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTC CCGACCTCAGGTGATCTGCCTGCCTGGACCTCCCAAAGTGCTGGCATTAC AGGCATGAGCCACCGCGCCCGGTTTTTAAATGTTTTTAAAGACATTTGTA AAATATAAAAATGCCAGGCTGGGTGCTATGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGTCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGA CCAGCCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATT AGCCGGGCGTAGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19030.hp2 HG02258.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0060 a0001c0001t0003g0097 a0001c0001t0001g0060 a0001c0001t0003g0097	2	290	0.0069	665	c.233 others(682): Show c.233+1354_233+1355insCAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCGTGCGCCACTACGCCCGGCTAATTTTGTATTT TTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCC GACCTCAGGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCATAGCACCCAGCCTGGCATTTTTATATTTTACAAATGTCTT TAAAAACATTTAAAAACCGGGCGCGGTGGCTCATGCCTGTAATGCCAGCA CTTTGGGAGGTCCAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACC AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAAACT AGCCGGACGTGGTGGTGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTGGAACCCGGGAGGCGGAGATTGCAGTGAGCCGAGA TTGCACCATTGCACTCCTGGCTGGGTGACAGAGCAAGAGACTCTGTCTCA AAAAAAAAAACAAAAAACAAAAAAACTTGTATTTCTTTTTTATTTTTATT TTTTTTGAGACAGAGTCTTGCTCTGGCATCTAGACTGGAGTGCAATCGTG CGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48499782	T T	TGAACCTG others(658): Show TGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACGATTGCACT CCAGTCTAGATGCCAGAGCAAGACTCTGTCTCAAAAAAAATAAAAATAAA AACGAAATACAAGTTTTTTTGTTTTTTGTTTTTTTTTTTGAGACAGAGTC TCTTGCTCTGTCACCCAGCCAGGAGTGCAATGGTGCAATCTCGGCTCACT GCAATCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGGTTACAGAAACCCACCACCACGTCCGGCTAGTTTTTTGTGT TTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTC CCGACCTCAGGTGATCTGCCTGCCTGGACCTCCCAAAGTGCTGGCATTAC AGGCATGAGCCACCGCGCCCGGTTTTTAAATGTTTTTAAAGACATTTGTA AAATATAAAAATGCCAGGCTGGGTGCTATGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGTCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGA CCAGCCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATT AGCCGGGCGTAGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	290	0.0035	665	c.233 others(682): Show c.233+1354_233+1355insCAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCGTGCGCCACTACGCCCGGCTAATTTTGTATTT TTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCC GACCTCAGGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCATAGCACCCAGCCTGGCATTTTTATATTTTACAAATGTCTT TAAAAACATTTAAAAACCGGGCGCGGTGGCTCATGCCTGTAATGCCAGCA CTTTGGGAGGTCCAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACC AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAAACT AGCCGGACGTGGTGGTGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTGGAACCCGGGAGGCGGAGATTGCAGTGAGCCGAGA TTGCACCATTGCACTCCTGGCTGGGTGACAGAGCAAGAGACTCTGTCTCA AAAAAAAAAACAAAAAACAAAAAAACTTGTATTTCGTTTTTATTTTTATT TTTTTTGAGACAGAGTCTTGCTCTGGCATCTAGACTGGAGTGCAATCGTG CGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(658): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAGAAGAGAAAGGAGGAGGGAAGG AGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGG AGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAG AGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGG GGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGT CCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAAG AGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0100 a0002c0003t0001g0100	1	350	0.0029	665	c.624 others(680): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTC CTCCTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCTC CTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCT TTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCT TTCTCTTCTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTC CCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTC CCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCC CTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTC CCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCC TCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(658): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AGGAGGAGGGGAGGAGGAGAGAAGAGGAAGGAGGGGAGGAGGAGAGAAGA GGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAG GGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGAGGAGGAGAGGAAAGAGT CCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAGG AGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	350	0.0029	665	c.624 others(680): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCT CCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCT CCCCTCCTTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCC TCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCT CCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCC TTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCC TTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCC TCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCC TCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTC CCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTC TCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTT CCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(658): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGG AGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02145.hp2 HG02717.hp1 others(2): Show HG00741.hp1 HG02145.hp2 HG02717.hp1 HG02818.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 others(2): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0283	5	350	0.0143	665	c.624 others(680): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCGGACTCTTTCCTCTCCTC CTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTC CTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTC CCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCC TCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCT CCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCC TTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCC TTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCC TCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCC TCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTC CCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTC TCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTT CCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC9A3_chr5_465456_529449	507739	A A	ACAGACGC others(658): Show ACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCGCAG ACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCTCACCCCGCAGACGC CCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCACAGACGCCCGA ATCTCCACCCCACAGACGCCCGAATCTCCACCCCACAGACGCCCGAATCC CCACCCCGCAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCAC CCCACAGACGCCCGAATCTCCACCCCACAGACGCCCGAATCTCCACCCCA CAGACGCCCGAATCTCCACCCCACAGACGCCCGAATCCCCACCCCACAGA CGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCC CGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAA TCCTCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCT CACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACC CCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCAC AGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCACACCCCACAGAC GCCCGAATCCCCACCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0025 a0002c0004t0025	a0002c0004t0025g0143 a0002c0004t0025g0143	1	218	0.0046	665	c.212 others(684): Show c.212-15669_212-15668insGGGTGGGGATTCGGGCGTCTGTGGGG TGTGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGG GATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATT CGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGAGGATTCGGG CGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGAGGATTCGGGCGTC TGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCG GGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGTGGGGT GGGGATTCGGGCGTCTGTGGGGTGGAGATTCGGGCGTCTGTGGGGTGGAG ATTCGGGCGTCTGTGGGGTGGAGATTCGGGCGTCTGTGGGGTGGGGATTC GGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGC GTCTGTGGGGTGGAGATTCGGGCGTCTGTGGGGTGGAGATTCGGGCGTCT GTGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGG GGTGAGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTG GGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(658): Show GGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGGAGGGT GGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAG GGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAA GGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGG GGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAG GGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAGGGG GAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGG AGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAA GGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGG GGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAAGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGG AGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGA GGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGGAGG GGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	665	c.12 others(676): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCCTCCTCTCCC CTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTT CCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTC CCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTTCCCCTT CCCCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCC CCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCC CTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTC TCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTC CCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCC TCCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTC CTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTC CCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCC CTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCCTCCCTT CCCCTTCCTTCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(658): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGACGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGAGGGGAGGGGGAGGGGAGGAGGGAGG GGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAG GGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGG AAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGG AGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGG GGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	665	c.12 others(676): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCC TCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCT CCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTC CCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCC CCTCCCCTCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCC TCTGCCGTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCCTC TCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCC TCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTC TCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCC TTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(658): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG AAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGG AGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGG GGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	352	0.0057	665	c.12 others(676): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCC TCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCTTCCCCTCCCCTC CCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCC CCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCC CTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCC TCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCCTC TCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCC TCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTC TCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCC TTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(658): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAAGGGGAAGGGGGAGGAGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGG AGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGG GGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	352	0.0028	665	c.12 others(676): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCC TCCCTCCTCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTC CCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCC CCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCC CTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCC TCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCCTC TCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCC TCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTC TCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCC TTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(658): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGG AGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGG GGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	665	c.12 others(676): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCC TCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTCCCCCCTTCCCCTCCCCTC CCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCC CCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCC CTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCC TCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCCTC TCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCC TCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTC TCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCC TTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SRSF9_chr12_120456672_120474748	120467991	A A	AGCTGAGG others(658): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATGT AGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAGA TTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCACC ACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTT GGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGCCTC CTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCCTC AATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGTGG CTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCACC TCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGTCT CTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTATAA TCCAGCTACTCAGGAC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	444	0.0023	665	c.188 others(682): Show c.188+1430_188+1431insGTCCTGAGTAGCTGGATTATAGGCATGC GCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTC TCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTGATCCGCCC GCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCTCACCCG GCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGGATTTAGAG TTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGGCGAGGCGG GCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAA CCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGTGGCGCGCGC CTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCC GGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTACATCCCAGCCT GGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAGAGAAAAAGTTCGA GGGATTTGTTTTTTTTATTTTTCTTTATTTTTTTGAGACGGAGTTTTGCT CTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCTCACTGCAACC TCGGCCTCCCAGGTTCAATCGATTCTTCTGCCTCAGC	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(658): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	422	0.0024	665	c.64 others(676): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(658): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTT GCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCA GCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCC AGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	422	0.0024	665	c.64 others(676): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGG CCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCACCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGAA others(658): Show GGAGAGAAAGGAAGGAGAGGGAGGAGGAGGGAGGAAAGGAGGGAGGGGAG GGAGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAAGGGAGGG AGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAA GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAG GGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAGG AAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAG GGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGG AGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAG GGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGG AGGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAG GGAGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0301 a0001c0001t0036g0301	1	322	0.0031	665	c.597 others(682): Show c.597+1546_597+1547insTCCCCCCCCCCCCTCCCTCCTTCCTTTC CTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTT CCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCC TTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCT CCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCC CTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTT TCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCC CCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCC CTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTTCCT TCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCTCCCTCCCCTCCCTC CTTTCCTCCCTCCTCCTCCCTCTCCTTCCTTTCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(658): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCTATCCACCCACCCACCATCCCCCATCGTATCC ACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCT ATCTACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCGTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCATCATCCA CCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCA TCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCC CACATCCATCCTATCCACCCACCAACCCACCATCTGCCATCCTATCCACC CACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCACTATCC ATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCACCATCC ACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCACCAT CCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCCATTC TGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATCCATCC TATCCATCCACCCATC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	258	0.0039	665	c.113 others(684): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCTATCCACCCA CCCACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCCA CCCACCCACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTA TCCACCCACCCACCATCCCCCATCGTATCCACCCACCCACCATCCCCCAT CCTATCCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCC CATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCAT CTCCCATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCAACCC ACCATCTGCCATCCTATCCACCCACCCACCCACCATCCACCATCCTATCC ACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCCTATCC ACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCAC CCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTT CTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCAT CCACCCACCTACCCATCCATCCTATCCATCCACCCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89908689	C C	CCTCCCTC others(658): Show CCTCCCTCCTCCCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCAC CTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACC TTCCAGCTCCCAGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCT CCCTCCTCCCACCTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCACCTC CCACCTCCCTCCTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGC CACCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCC ACCTCCCAGCTCCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCA GCTCCCTCCTCCCACCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCAC CTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCC TCCCTCCTCCCAGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACT CCCTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTC CCACCTCCCACCTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTC CAGTTCCCACCTCCTTCCTCGCAGTTCCCACCTCCCAGCTCCCACCTTCC AGCTCCCAGCTCCCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG00741.hp1 others(22): Show HG00099.hp1 HG00735.hp2 HG00741.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG01993.hp2 HG02071.hp2 HG02559.hp2 HG02602.hp1 HG02698.hp2 HG02723.hp2 HG02965.hp1 HG03688.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0057 a0001c0001t0001g0074 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0057 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0170	25	300	0.0833	665	c.179 others(684): Show c.1799+1372_1799+1373insTCCTCCCACCTCCCAGTTCCCGCCTC CCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCC CACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGCTCCC GGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTCCCA CCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCCAT CTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCAGT TCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTAGTT CCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCACCTCCCTCCTT TCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCC CACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACCTCCC AGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTCCCA GTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCCCAA CTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCCACC TCCCAGCTCCCACCTTCCAGCTCCCAGCTCCCAGCTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89908689	C C	CCTCCCTC others(658): Show CCTCCCTCCTCCCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCAC CTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACC TTCCAGCTCCCAGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCT CCCTCCTCCCACCTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCACCTC CCACCTCCCTCCTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGC CACCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCC ACCTCCCAGCTCCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCA GCTCCCTCCTCCCACCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCAC CTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCC TCCCTCCTCCCAGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACT CCCTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTC CCACCTCCCACCTCCCTCCTCCCACCTCCCCACTCTCTCCTCCCACCTTC CAGTTCCCACCTCCTTCCTCGCAGTTCCCACCTCCCAGCTCCCACCTTCC AGCTCCCAGCTCCCAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	300	0.0033	665	c.179 others(684): Show c.1799+1372_1799+1373insTCCTCCCACCTCCCAGTTCCCGCCTC CCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCC CACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGCTCCC GGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTCCCA CCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCCAT CTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCAGT TCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTAGTT CCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCACCTCCCTCCTT TCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCC CACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACCTCCC AGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTCCCA GTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCCCCA CTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCCACC TCCCAGCTCCCACCTTCCAGCTCCCAGCTCCCAGCTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar

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Search Results (Total: 10000 hits)