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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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
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(771): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGG GAGGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGA AGGGGGGAAGGGGAGGAGGAAGGGGAAGGGGGAGGAGGAAGGGGGAAGGG GGAGGAGGAAGGGGGGAAGGGGGAGGAGAGAAGGGGGAAGGGGGAGCGGG AGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGA GGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGGAGCGGGAGGAGGA AGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAG GGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGA AGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0002 a0003c0011t0001g0002	1	300	0.0033	778	c.-70 others(787): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGAAGGGGGAGGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGA AGGGGGAGGAGGAAGGGGGGAAGGGGAGGAGGAAGGGGAAGGGGGAGGAG GAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGAGAAGGGGG AAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAG GGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGG AGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
CAMK2B_chr7_44212154_44330594	44227579	G G	GGAGGGTG others(771): Show GGAGGGTGTGGGGGACACAGGAGGGTGTGGGGGACAGAGGAGGGTGTGGG GGACACAGGAGGGTGTGGGGGACAGAGGAGGGTGTGGGGGACAGAGGAGG GTGTGGGGGACACAGGAGGGTGTGGGGGACAGAGGAGGGTGTGGGGGACA CAGGAGGGTGTGGGGGACACAGGAGGGTGTGGGGGACAGAGGAGGGTGTG GGGGACACAGGAGGGTGTGGGGGACAGAGGAGGGTGTGGGGGACACAGGA GGGTGTGGGGGACACAGGAGGGTGTGGGGGACAGAGGAGGGTGTGGGGGA CACAGGAGGGTGTGGGGGACAGAGGAGGGTGTGGGGGACACAGGAGGGTG TGGGGGACAGAGGAGGGTGTGGGGGACAGAGGAGGGTGTGGGGGACACAG GAGGGTGTGGGGGACAGAGGAGGGTGTGGGGGACACAGGAGGGTGTGGGG GACAGAGGAGGGTGTGGGGGACAGAGGAGGGTGTGGGGGACACAGGAGGG TGTGGGGGACAGAGGAGGGTGTGGGGGACAGAGGAGGGTGTGGGGGACAG AGGAGGGTGTGGGGGACAGAGGAGGGTGTGGGGGACAGAGGAGGGTGTGG GGGACAGAGGAGGGTGTGGGGGACAGAGGAGGGTGTGGGGGACACAGGAG GGTGTGGGGGACAGAGGAGGGTGTGGGGGACACAGGAGGGTGTGGGGGAC AGAGGAGGGTGTGGGGGACACAGGAGGGTGTGGGGGACACAGGAGGGTGT GGGGGACAGAGGAGGGTGTGGGGGACACA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0121 a0002c0005t0004g0121	1	242	0.0041	778	c.146 others(795): Show c.1469-936_1469-935insTGTGTCCCCCACACCCTCCTCTGTCCCC CACACCCTCCTGTGTCCCCCACACCCTCCTGTGTCCCCCACACCCTCCTC TGTCCCCCACACCCTCCTGTGTCCCCCACACCCTCCTCTGTCCCCCACAC CCTCCTGTGTCCCCCACACCCTCCTCTGTCCCCCACACCCTCCTCTGTCC CCCACACCCTCCTCTGTCCCCCACACCCTCCTCTGTCCCCCACACCCTCC TCTGTCCCCCACACCCTCCTCTGTCCCCCACACCCTCCTCTGTCCCCCAC ACCCTCCTGTGTCCCCCACACCCTCCTCTGTCCCCCACACCCTCCTCTGT CCCCCACACCCTCCTGTGTCCCCCACACCCTCCTCTGTCCCCCACACCCT CCTGTGTCCCCCACACCCTCCTCTGTCCCCCACACCCTCCTCTGTCCCCC ACACCCTCCTGTGTCCCCCACACCCTCCTCTGTCCCCCACACCCTCCTGT GTCCCCCACACCCTCCTCTGTCCCCCACACCCTCCTGTGTCCCCCACACC CTCCTGTGTCCCCCACACCCTCCTCTGTCCCCCACACCCTCCTGTGTCCC CCACACCCTCCTCTGTCCCCCACACCCTCCTGTGTCCCCCACACCCTCCT GTGTCCCCCACACCCTCCTCTGTCCCCCACACCCTCCTGTGTCCCCCACA CCCTCCTCTGTCCCCCACACCCTCCTCTGTCCCCCACACCCTCCTGTGTC CCCCACACCCTCCTCTGTCCCCCACACCCTCCTGTGTCCCCCACACCCTC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(771): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	204	0.0049	778	c.223 others(799): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTCCAGATT TATGGTTTTTATTACATAAGGTAAAAATATTACAGATACGGAAAAATTAA TTCATTCAACAATAATTCAATTTACAGAATTACAGATTATGTTTCCAGTT TACTGCCTATTATAGTCTGGAATACAGTATTTGATGCTACCAGTCTTTGG CATCTTGTAACATTCTGTCAATTAATTGGCCAAATAATGCTAGGTCTCCA TTTTAACCTGATTATCTGGAATTAATATTTCTCCATATTTTCACTAATGA CTTTCAAACTAGTTGACTGATTTTTGCCTAAAGAAAATCACGATACTTCT TTAGTTTTACTTTTTGTTTGTAACTTAAAAAGGGAAGGACAATTGTCACA TTTTAAAGAATGTAATAAAATGTCATACCTGACGTAGCAAATTGTATTTT TCAAAAATAACTACAACAATATATCCCATCCCACATGCTCTTCCAAAACT TTGCCACTCACCCTCAAGAGGTGGGGGTTATGTCCCTTCCCCTTAATTTG TGTGTCATTAGACTGACACACGTGATAGACAACACTGTATAACTTCCAAG CCTGGGTCTTAAGAGGCAATACGGTCCTTGAGTCACTTTCCCTCAGCAGC CAGCCACCGTGCAGTGAGGAAGCCTGGGCTACATGAAGAGACCCACATGG AGAGGAATGAAGTTCCTATCTCTCAATCCAGGCTGAGCTCCCAGCCAATA ACCAGTGCCTGTGAGTGATCCCTCTTGGAGAGGGGTCGCTCTTTGGCATA TCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(771): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCC TCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTC CTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTT CCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0069 a0001c0002t0069	a0001c0002t0069g0206 a0001c0002t0069g0206	1	270	0.0037	778	c.162 others(799): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACC TCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCT CCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCT TTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC CCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(771): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCC TCTCCCTCCCCCTCCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCT CCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCT TCCTCTTCCTCCTCCTCCTCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0068 a0001c0002t0068	a0001c0002t0068g0219 a0001c0002t0068g0219	1	270	0.0037	778	c.162 others(799): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCCTCCTCCTCTTCC TCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCC TTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCTTCCTC CCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(771): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCC TCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTC CTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTT CCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0220 a0001c0002t0015g0220	1	270	0.0037	778	c.162 others(799): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCT CCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCT TTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC CCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COG3_chr13_45459939_45541701	45485402	G G	GGGGGGGC others(771): Show GGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCGGGGGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGACGGCTGGCC GGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGGC CATCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCAGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACC TCCCTCCCGGATGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0038 a0002c0004t0001g0038	1	342	0.0029	778	c.844 others(795): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGACGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGGCCATCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485402	G G	GGGGGGGC others(771): Show GGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCGGGGGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGACGGCTGGCC GGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGGC CATCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCAGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACC TCCCTCCCGGATGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0023 a0002c0004t0001g0023	1	342	0.0029	778	c.844 others(795): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGACGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGGCCATCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485402	G G	GGGGGGGC others(771): Show GGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCGGGGGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGACGGCTGGCC GGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGGC CATCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCAGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACC TCCCTCCCGGATGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0024 a0002c0004t0001g0024	1	342	0.0029	778	c.844 others(795): Show c.844-1075_844-1074insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCGGGGGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGACGGCTG GCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTG GCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GGCCATCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCC CACCTCCCTCCCAGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(771): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02572.hp1 HG02615.hp1 others(1): Show HG01975.hp1 HG02572.hp1 HG02615.hp1 NA20300.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0013 a0002c0005t0003 a0002c0005t0013	a0002c0005t0003g0151 a0002c0005t0003g0152 a0002c0005t0003g0153 others(1): Show a0002c0005t0003g0151 a0002c0005t0003g0152 a0002c0005t0003g0153 a0002c0005t0013g0154	4	342	0.0117	778	c.844 others(795): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL18A1_chr21_45400165_45518720	45500581	G G	GGTGTGTT others(771): Show GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0006 a0006	a0006c0072 a0006c0072	a0006c0072t0002 a0006c0072t0002	a0006c0072t0002g0082 a0006c0072t0002g0082	1	292	0.0034	778	c.268 others(797): Show c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGGGTGTGGTTTGGTGTGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
DPEP1_chr16_89608642_89643433	89619512	T T	TCCCTGCC others(771): Show TCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCC TCTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCC CCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCC CTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCTGCTCCCCTCTCTGCAGCC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	1	250	0.0040	778	c.-10 others(797): Show c.-107+5814_-107+5815insCCTGCAGCTCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCC CCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCTGCTCCCC TC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(771): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCCGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAATTGATGCAAAA CATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGTA TTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTAT ACCACAACCTCATGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAACA GAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATAA TGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGGT TTCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCAT GAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAAGTTCA GAACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATATA TATATATATATATGTCTATTTCCTGAGAATTGTTGGAAAGAAGAATTGTT TCAAAATCAATGTGAAATAGAATTTTCCATTACTTTTCTTGCCTCTGAAC TGGGTTTTGGATAAATCAGTTTTATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	374	0.0027	778	c.-51 others(789): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CCGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAAA GAAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAATA AGGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTT GCTATGGCACTGTATACCACAACCTCATGTGATGGGTATTGTCATTTCTT TTTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGA ACAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGT CAGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAA TGTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAG TGGTATCAAAGTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTAT ATATATATATATATATATATATATATATGTCTATTTCCTGAGAATTGTTG GAAAGAAGAATTGTTTCAAAATCAATGTGAAATAGAATTTTCCATTACTT TTCTTGCCTCTGAACTGGGTTTTGGATAAATCAGTTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(771): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCTGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAATTGATGCAAAA CATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGTA TTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTAT ACCACAACCTCGTGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAACA GAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATAA TGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGGT TTCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCAT GAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAACTTCA GAACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATATA TATATATATATATGTCTATTTCCTGAGAATTGTTGGAAAGAAGAATTGTT TCAAAATCAATGTGAAATAGAATTTTCCATTACTTTTCTTGCCTCTGAAC TGGGTTTTGGATAAATCAGTTTTATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	374	0.0027	778	c.-51 others(789): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CTGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAA GAAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAATA AGGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTT GCTATGGCACTGTATACCACAACCTCGTGTGATGGGTATTGTCATTTCTT TTTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGA ACAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGT CAGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAA TGTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAG TGGTATCAAACTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTAT ATATATATATATATATATATATATATATGTCTATTTCCTGAGAATTGTTG GAAAGAAGAATTGTTTCAAAATCAATGTGAAATAGAATTTTCCATTACTT TTCTTGCCTCTGAACTGGGTTTTGGATAAATCAGTTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(771): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCATGGCTGGCCGGGCGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	275	0.0036	778	c.278 others(797): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGTGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGCATGGCTGGCCGGGCGGGGGGGCTGACCCC CC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(771): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCATGGCTGGCCGGGCGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02630.hp2 others(11): Show HG01168.hp2 HG01169.hp1 HG02630.hp2 HG02818.hp2 HG02896.hp1 HG03041.hp2 HG03195.hp2 HG03834.hp2 HG04184.hp2 NA18992.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0060 a0001c0001t0001g0061 others(10): Show a0001c0001t0001g0022 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0092 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229	14	275	0.0509	778	c.278 others(797): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGTGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGCATGGCTGGCCGGGCGGGGGGGCTGACCCC CC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(771): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGCATGGCTGGCCGGGCGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03579.hp1 HG02809.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0219 a0002c0002t0001g0213 a0001c0001t0001g0219 a0002c0002t0001g0213	2	275	0.0073	778	c.278 others(797): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGTGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGCATGGCTGGCCGGGCGGGGGGGCTGACCCC CC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(771): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCATGGCTGGCCGGGCGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18989.hp1 NA18962.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0214 a0001c0001t0001g0215	2	275	0.0073	778	c.278 others(797): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGTGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGCATGGCTGGCCGGGCGGGGGGGCTGACCCC CC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(771): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGC GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCACGGCTGGCCGGGCGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	275	0.0036	778	c.278 others(797): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGCGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(771): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CTGCACGGCTGGCCGGGCGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18992.hp2 NA18966.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0053 a0001c0001t0001g0063	2	275	0.0073	778	c.278 others(797): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCAGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACTGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(771): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCACGGCTGGCCGGGCGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	275	0.0036	778	c.278 others(797): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(771): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CAGCACGGCTGGCCGGGCGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	275	0.0036	778	c.278 others(797): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACAGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(771): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCACGGCTGGCCGGGCGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01123.hp2 others(17): Show HG01069.hp1 HG01071.hp2 HG01123.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG06807.hp1 NA19081.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0004 a0001c0001 a0002c0002 a0000c0004 a0001c0001 a0002c0002	a0000c0004t0001 a0001c0001t0001 a0002c0002t0001 a0000c0004t0001 a0001c0001t0001 a0002c0002t0001	a0000c0004t0001g0196 a0001c0001t0001g0003 a0001c0001t0001g0021 others(12): Show a0000c0004t0001g0196 a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0150 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0002c0002t0001g0183 a0002c0002t0001g0191	20	275	0.0727	778	c.278 others(797): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(771): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CTGCACGGCTGGCCGGGCGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00609.hp1 others(46): Show HG00323.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG01099.hp1 HG01169.hp2 HG01433.hp1 HG01943.hp1 HG02027.hp1 HG02083.hp1 HG02148.hp1 HG02523.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG03710.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18954.hp1 NA18965.hp1 NA18970.hp1 NA18971.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19055.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19075.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(33): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234	49	275	0.1782	778	c.278 others(797): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACTGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(771): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CTGCACGGCTGGCCGGGCGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	275	0.0036	778	c.278 others(797): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGTGGGGGGCTGACCCC CCCACCTCCCTCCCGGACTGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(771): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CTGCACGGCTGGCCGGGCGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01975.hp2 NA18953.hp1 HG01074.hp1 HG01975.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0023 a0001c0001t0001g0093 a0001c0001t0001g0095	3	275	0.0109	778	c.278 others(797): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGATGGGGCGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACTGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(771): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACTTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CTGCACGGCTGGCCGGGCGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18998.hp2 NA18977.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0082 a0001c0001t0001g0083	2	275	0.0073	778	c.278 others(797): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACTTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACTGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(771): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGTGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCACGGCTGGCCGGGCGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 homoSapiens_chm13v2.hp1 HG01346.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0198 a0001c0001t0001g0199	2	275	0.0073	778	c.278 others(797): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGTGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FOXK2_chr17_82514732_82609602	82586547	G G	GCAGGGGG others(771): Show GCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGG CGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCGGAGGGGAA AGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCCGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGCCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGCCGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCGGAGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	308	0.0033	778	c.157 others(795): Show c.1576+348_1576+349insAGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAAGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTAGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTAGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCA AAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTA GGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
HNF4A_chr20_44350699_44437845	44404776	T T	TGTGTTTG others(771): Show TGTGTTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGT GTATGTGTGGACTGTGCGTGTGTTCATGTTCGGACTGTGTGTGTGTATGT AAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTGTGTGCCTGTGTGGAC TGCTGTGTGTGCATGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGAC TGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGT GCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGT GTGGTGTGTGTGTGCTTATGTTTGGCGTGTGTGTGTGTGTGTGTGTGTGG ACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACTCTGTGGTGTGTGC ATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGTGTGTGTCTGTGTG CACGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTGGACCGTGTGGTGT GTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCACGTGTGTGTGTGCTT GTGTGTGGACTGTGTGTGTGTGGACTGTAGTGTGTGTGCGTGACTGTGGT GTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGTGTGTGGATTGTGTGG TGTGTGTGGACTGTGGGTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGTGT GTGTGCGTGTGTGTGGACTGTGTGGTGCATGTGTGTGCTTGTGTGTGGAC TGTGGATTGTGTGGTGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0058 a0003c0004t0058	a0003c0004t0058g0082 a0003c0004t0058g0082	1	322	0.0031	778	c.50- others(793): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTG TGTGCCTGTGTGGACTGCTGTGTGTGCATGGACTGTGTGGTGTGGGTGTG TGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGT GTGGTGTGGGTGTGTGCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGT GCATGTGTGGGCTGTGTGGTGTGTGTGTGCTTATGTTTGGCGTGTGTGTG TGTGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGA CTCTGTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTG GTGTGTGTCTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTG TGGACCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCA CGTGTGTGTGTGCTTGTGTGTGGACTGTGTGTGTGTGGACTGTAGTGTGT GTGCGTGACTGTGGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGT GTGTGGATTGTGTGGTGTGTGTGGACTGTGGGTGTGTGGTGCGTGTGTGT GCTTGTGTGTGGTGTGTGTGCGTGTGTGTGGACTGTGTGGTGCATGTGTG TGCTTGTGTGTGGACTGTGGATTGTGTGGTGTGTGTGTGCGCACGTGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNF4A_chr20_44350699_44437845	44404776	T T	TGTGTTTG others(771): Show TGTGTTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGT GTATGTGTGGACTGTGCGTGTGTTCATGTTCGGACTGTGTGTGTGTATGT AAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTGTGTGCCTGTGTGGAC TGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGAC TGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGT GCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGT GTGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTGTGTGTGTGTGTGTGG ACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACTCTGTGGTGTGTGC ATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGTGTGTGTCTGTGTG CACGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTGGACCGTGTGGTGT GTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCACGTGTGTGTGTGCTT GTGTGTGGACTGTGTGTGTGTGGACTGTAGTGTGTGTGCGTGACTGTGGT GTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGTGTGTGGATTGTGTGG TGTGTGTGGACTGTGGGTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGTGT GTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGAC TGTGGATTGTGTGGTGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG01074.hp2 others(43): Show HG00099.hp1 HG00544.hp1 HG01074.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02572.hp1 HG02683.hp2 HG02698.hp2 HG02818.hp2 HG03098.hp2 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03669.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18947.hp1 NA18952.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18986.hp2 NA19005.hp1 NA19009.hp1 NA19056.hp1 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19088.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0014 a0006c0007 a0001c0001 a0001c0014 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0052 a0001c0001t0059 a0001c0001t0078 a0001c0001t0091 a0001c0001t0098 a0001c0001t0100 a0001c0001t0102 a0001c0014t0070 a0006c0007t0016	a0001c0001t0001g0017 a0001c0001t0001g0110 a0001c0001t0001g0124 others(43): Show a0001c0001t0001g0017 a0001c0001t0001g0110 a0001c0001t0001g0124 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0287 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0111 a0001c0001t0002g0156 a0001c0001t0002g0203 a0001c0001t0002g0234 a0001c0001t0003g0028 a0001c0001t0003g0074 a0001c0001t0003g0151 a0001c0001t0003g0235 a0001c0001t0004g0034 a0001c0001t0004g0046 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0138 a0001c0001t0004g0160 a0001c0001t0004g0224 a0001c0001t0007g0089 a0001c0001t0007g0148 a0001c0001t0009g0125 a0001c0001t0009g0171 a0001c0001t0013g0184 a0001c0001t0015g0261 a0001c0001t0022g0060 a0001c0001t0022g0088 a0001c0001t0035g0042 a0001c0001t0037g0225 a0001c0001t0038g0142 a0001c0001t0052g0158 a0001c0001t0059g0288 a0001c0001t0078g0162 a0001c0001t0091g0137 a0001c0001t0098g0061 a0001c0001t0100g0122 a0001c0001t0102g0136 a0001c0014t0070g0191 a0006c0007t0016g0123	46	322	0.1429	778	c.50- others(793): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTG TGTGCCTGTGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTG TGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGT GTGGTGTGGGTGTGTGCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGT GCATGTGTGGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTG TGTGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGA CTCTGTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTG GTGTGTGTCTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTG TGGACCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCA CGTGTGTGTGTGCTTGTGTGTGGACTGTGTGTGTGTGGACTGTAGTGTGT GTGCGTGACTGTGGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGT GTGTGGATTGTGTGGTGTGTGTGGACTGTGGGTGTGTGGTGCGTGTGTGT GCTTGTGTGTGGTGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTG TGCTTGTGTGTGGACTGTGGATTGTGTGGTGTGTGTGTGCGCACGTGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATGGA others(771): Show TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGCTGGATGGATGGATGGATGGA TGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0349 a0001c0001t0002g0349	1	376	0.0027	778	c.666 others(795): Show c.666-4733_666-4732insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCC ATCCATCCATCCATCCATCCAGCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(771): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGG AGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGG AGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGA GGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGC AGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGA GGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGA GGGAGAAAGGAAGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGA GGGAGAAAGGAAGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0048 a0001c0001t0072g0048	1	386	0.0026	778	c.-46 others(789): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTC TTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTC CTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTT CCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACT TCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCC TCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCC CTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCT CCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCT TCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(771): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCTTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCACTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	370	0.0027	778	c.-27 others(789): Show c.-2751_-2750insAGGGAGAGTGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAAGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(771): Show TATATATCCATATATATATATATATCCATATATATATATCCATATATATA TATATATCCATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATCCATATATATATATATCCATA TATATATCCATATATATATATATCCATATATACATATCCATATATATATA TATCCATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0214 a0002c0002t0002g0214	1	284	0.0035	778	c.126 others(795): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATGGAT ATATATATATATGGATATGTATATATGGATATATATATATATGGATATAT ATATGGATATATATATATATGGATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATATGGATATATAT ATATGGATATATATATATGGATATATATATGGATATATATATATATGGAT ATATATATATGGATATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATGGATATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATGGATATAT ATATATATATGGATATATATATATGGATATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LRRIQ1_chr12_85031351_85250105	85112497	T T	TAAGAGTT others(771): Show TAAGAGTTTTGCTTCTAAATCAAAACCACTATGAGATATCATCTCACACC AGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAG GATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTA GTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACT AGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATG AGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCG GCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAAT GATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATG CAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAA TTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACA CCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGAC ACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGG GGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGT GGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCA CAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAA AAGAAGTTAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	228	0.0044	778	c.337 others(797): Show c.3377+5897_3377+5898insAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAGAGTTTTGCTT CT	LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
MED16_chr19_862963_898187	871898	A A	AGGGGGGA others(771): Show AGGGGGGAGCGGGGAGGGGCGGGGAGGGGCGGGGGGAGCGAGGGGCGGGG GGAGCGGGGAGGGGCGGGGGGAGCGGGGAGGGGCGGGGGGAGCGGGGAGG GGCGGGGGAGCGGGGAGGGGCGGGGGAGCGGGGAGGGGCGGGGGGAGCGG GGAGGGGCGGGGAGGGGCAGGGGGGGCGGGGGGCGGGGGGGGGCGGGGGG GAGCGGGGAGGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGAGCGGGGAGG GGCGGGGGGGAGCGGGGAGGGGCGGGGAGCGGGGAGGGGCGGGGGGGAGC GGGGAGGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGGGAGCGGGGAGGGG CGGGGGGGAGCGGGGAGGGGCGGGGGGGGAGCGGGGAGGGGCGGGGGGGC GGGGAGGGGCGGGGGGGGGCCGGGGGGGGGCGGGGAGGGGCGGGGGGGGC GGGGAGGGGCGGGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGGGCG GGGGGGCGGGGGAGGGGCGGGGGGGCGGGGAGGGGCGGGGGGGGCGGGGA GGGGCGGGGGGGGCGGGGAGGGGCGGGGGGGGCGGGGAGGGGCGGGGGGG GCGGGGAGGGGCGGGGGGGGCGGGGAGGGGCGGGGGGGAGCGGGGAGGGG CGGGGGGAGCGGGGGGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGGAGCG GGGAGGGGCGGGGGGGGGCGGGGAGGGGCGGGGGGGGGCGGGGGGAGCGG GGGGGAGCGGGGAGGGGCGAGGGGGAGCG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0005	1	56	0.0179	778	c.209 others(793): Show c.2098+27_2098+28insCGCTCCCCCTCGCCCCTCCCCGCTCCCCCC CGCTCCCCCCGCCCCCCCCCGCCCCTCCCCGCCCCCCCCCGCCCCTCCCC GCTCCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCCCCCGCTCCCCCCGC CCCTCCCCGCTCCCCCCCGCCCCTCCCCGCCCCCCCCGCCCCTCCCCGCC CCCCCCGCCCCTCCCCGCCCCCCCCGCCCCTCCCCGCCCCCCCCGCCCCT CCCCGCCCCCCCCGCCCCTCCCCGCCCCCCCGCCCCTCCCCCGCCCCCCC GCCCCCCCCCGCCCCCCCCCGCCCCCCCCCGCCCCCCCCGCCCCTCCCCG CCCCCCCCGCCCCTCCCCGCCCCCCCCCGGCCCCCCCCCGCCCCTCCCCG CCCCCCCGCCCCTCCCCGCTCCCCCCCCGCCCCTCCCCGCTCCCCCCCGC CCCTCCCCGCTCCCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCTCCCCG CTCCCCCCCGCCCCTCCCCGCTCCCCGCCCCTCCCCGCTCCCCCCCGCCC CTCCCCGCTCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCTCCCCGCTCC CCCCCGCCCCCCCCCGCCCCCCGCCCCCCCTGCCCCTCCCCGCCCCTCCC CGCTCCCCCCGCCCCTCCCCGCTCCCCCGCCCCTCCCCGCTCCCCCGCCC CTCCCCGCTCCCCCCGCCCCTCCCCGCTCCCCCCGCCCCTCCCCGCTCCC CCCGCCCCTCGCTCCCCCCGCCCCTCCCCGCCCCTCCCCGCTCCCCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(771): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCT CCTCCCTCCCCCCCTCCCCTCCTCCCTCCCCCCCTCCCCTCCTCCCTCCC CTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCT TCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTCCCCTCC TCCCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTT CCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCC CTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTT CCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCC CCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCG CCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCT CCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCG CTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCC TCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCT CTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01433.hp2 others(4): Show HG00639.hp1 HG00735.hp1 HG01433.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02148.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0005 a0001c0001t0005 a0002c0002t0005	a0001c0001t0005g0054 a0001c0001t0005g0211 a0002c0002t0005g0038 others(4): Show a0001c0001t0005g0054 a0001c0001t0005g0211 a0002c0002t0005g0038 a0002c0002t0005g0082 a0002c0002t0005g0090 a0002c0002t0005g0096 a0002c0002t0005g0143	7	278	0.0252	778	c.115 others(795): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCC CCTCCTCCCTCCCCCCCTCCCCTCCTCCCTCCCCCCCTCCCCTCCTCCCT CCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTC CCTTCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTCCCC TCCTCCCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCC CTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCT CCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCC CTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCC TCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCC CCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTC CCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCT CCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTT CCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCT CCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(771): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCT CCTCCCTCCCCCCCTCCCCTCCTCCCTCCCCCCCTCCCCTCCTCCCTCCC CTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCT TCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTCCCCTCC TCCCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTT CCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCC CTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTT CCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCTCTCCCCTCC CCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCG CCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCT CCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCG CTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCC TCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCT CTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0126	1	278	0.0036	778	c.115 others(795): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCC CCTCCTCCCTCCCCCCCTCCCCTCCTCCCTCCCCCCCTCCCCTCCTCCCT CCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTC CCTTCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTCCCC TCCTCCCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCC CTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCT CCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCC CTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCTCTCCCC TCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCC CCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTC CCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCT CCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTT CCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCT CCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(771): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTC CTAACCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCC CTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCA CCCGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	394	0.0025	778	c.-8+ others(791): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(771): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACTCC CTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCA CCCGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	394	0.0025	778	c.-8+ others(791): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGGGA GTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGG TAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(771): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCT CTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC CGGCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACC CCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	394	0.0025	778	c.-8+ others(791): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(771): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0077 a0001c0016t0001g0077	1	394	0.0025	778	c.-8+ others(791): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGGCCGGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGG GTAGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(771): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	394	0.0025	778	c.-8+ others(791): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTAGC GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGG TAGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(771): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	394	0.0025	778	c.-8+ others(791): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTAG CGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGG TAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGG GTAGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGG GGGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(771): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	394	0.0025	778	c.-8+ others(791): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTAGC GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGG GTAGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCC GGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370393	A A	ACCCCTGC others(771): Show ACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTC CTACCCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCC GGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCGGC CCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC CGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGGCTCTCACTCCCTAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	394	0.0025	778	c.-8+ others(791): Show c.-8+105_-8+106insGTAGGGAGTGAGAGCCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGG GCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAG CCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
NXN_chr17_794310_984776	952366	T T	TGGGGGGG others(771): Show TGGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCA CGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAA CCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAG AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTG GGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACA CTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGGCTGGAGTCA GAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGG GGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACC CGGCAGGTACCACGGACGGTCACACTGTG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0192 a0001c0001t0008g0192	1	242	0.0041	778	c.360 others(797): Show c.360+26952_360+26953insCACAGTGTGACCGTCCGTGGTACCTG CCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCACAGTGTGACC GTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCC CCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCT CTCTGACTCCAGCCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGG GTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCA CAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGA CCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAAC CTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACC TGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCCCACAGTGT GACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAG CCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGG TCTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCC GGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGT CCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCC CC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGGG others(771): Show GGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCAC GGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAA CCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAC AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGG CAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCT GGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCAC ACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGT ACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGT TGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGT CAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGT GGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCAC GGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAAC CCGGCAGGTACCACGGACGGTCACACTGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0113 a0001c0001t0014g0113	1	242	0.0041	778	c.360 others(797): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCC CCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGT CTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTT CCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGT GGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCAC AGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGAC TCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAAC CTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTAC CTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGT GACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAG CCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGG TCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCC GGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCC CC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(771): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTC CTAACCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCC CTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCA CCCGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	376	0.0027	778	c.15 others(789): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar

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Search Results (Total: 8931 hits)