Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

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
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(873): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGT CCTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAA GACCCCACACACCCTCGTAAAGACCCCCATCATACCATCCTAAAGACCCC CACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATA CCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACACTCG TAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGA CCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCG TCATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACAC CGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACCATCC TGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTAAAGA CCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCAC ACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACATACCC TCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCACACACCCTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCC CATCACACCATCCTGAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19067.hp1 HG02135.hp2 NA19067.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0181 a0003c0003t0001g0166 a0002c0002t0001g0181 a0003c0003t0001g0166	2	224	0.0089	880	c.225 others(899): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGGTCTT TACGAGGGTATGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAG GGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGT GGGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGT CTTCAGGATGGTGTGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGG TATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGT CTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTAC GAGGGTATGTGTGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGGTCTTTAGGATGGTATGATGGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGATGGTATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCT TCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGG ATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGT GATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGG TCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTA CGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(873): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCT CTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCCCCT CCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCT CCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCCTCCCTTCCCCTCTCCTCCCCTCC TCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCT CCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCT CCTCCACTCCTCTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCT CCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCC CCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCC CCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	202	0.0050	880	c.53 others(891): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGGAGAGGAGCGGAGGAGAGGGGAGGGG AGCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGG AGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGG AGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGG GGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGG GGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGG GGAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGA GGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGA GGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGA GGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGA GGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGA GGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(873): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCTCTCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCTCCTCCCTCCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCC CTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCCC CTCCCTTCCCCTCTCCTCCCCTCCCTCCCCTCCTCTCTCCTCCCCTCCCC TCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCC CTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCC TCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCC CCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCC TCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCT CCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCT CCTCCACTCCTCTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCT CCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCC CCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCC CCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	202	0.0050	880	c.53 others(891): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGAGGGGAGGAGAGGGGAAGGGAGGGG AGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGG AGCGGAGCGGAGGAGAGAGGGGAGGGGAGGAGGGAGGAGAGGGGAGGGGA GGGGAGGAGAGAGGAGGGGAGGGGAGGGAGAGAGAGAGGAGGGGAGGGGA GGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGA GGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGA GGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGA GGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CTCCTCTC others(873): Show CTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCC CTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCC CTCCCCTCCCCTCCTCTCTCCTCCCCTCCCTCCTCTCTCCTCCCCTCCCC TCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCC TCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCC TCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCC CCTCTCCTCCACTCCTCTCCCCTCCCTTCCCTCTCCTCCCCTCCTCTCCC CTCCCTTCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCC TCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCC CTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCC TCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCC CCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCC TCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCT CCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCT CCTCCACTCCTCTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCT CCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCC CCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCC CCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0020 a0001c0005t0008g0020	1	202	0.0050	880	c.53 others(891): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGAAGGGAGGGG AGAGGAGGGGAGGAGAGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGA GCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGG GAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGG AGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGG AGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGA	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
ACSF3_chr16_89088852_89161233	89137345	G G	GGGAGGAC others(874): Show GGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGG GTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGC CCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGA AGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGA GGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAG ATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTTGTGGG GAACGAGTGAGGGGAAGAGCCCCGGGTCCCGGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCTGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGA GGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCC TGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCA GGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAG CCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGG AAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTG AGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTTGTGGGGAAG GACTGAGGGGAAGAGCCCCAGGTCTTGGGAGGACCACCAGGAGCTCATGG GGAAGGATTGAGGGGAAGAGCCCCGGGTCTCA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0028 a0002c0003t0005g0028	1	368	0.0027	881	c.136 others(900): Show c.1366+4130_1366+4131insGGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTTGTGGGGAACGAGTGAGGGGAAGAGCCCCG GGTCCCGGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGA GCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGG GAAGAGCCCCAGGTCCTGGGAGGACCACCAGGAGCTCACGGGGAAGGATT GAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAA GGATTGAGGGGAAGAGCCCCAGGTCCTGGGAGGACCACCAGGAGCTCACG GGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGC TCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCA GGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGAC CACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGG AGGACCACCAGGAGCTTGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTC TTGGGAGGACCACCAGGAGCTCATGGGGAAGGATTGAGGGGAAGAGCCCC GGGTCTCAGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGA GCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACTN2_chr1_236681499_236769631	236714689	T T	TAACCACT others(874): Show TAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTG TGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAG CTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGA TATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACAC AGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACT GTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAG GGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATA CACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTC ACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGA CTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTG AAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGT ATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTC CTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAG AGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACC ACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTT ATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCA TTCCTCACTGTGTGTTTATGTATACACAGATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0135 a0001c0001t0006g0135	1	344	0.0029	881	c.127 others(898): Show c.127-3168_127-3167insACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGG GATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATAC ACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCA CTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGAC TGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGA AGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTA TACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCC TCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGA GACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCA CTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTA TGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCAT TCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCA AGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAA CCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGT TTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCT TCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATAT GCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGA TAA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(874): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTCCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCT CCCCCCCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAG CCTCCACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCA CCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCT TACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCC CTCTCGCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCC CCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTC CCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTAC ACCTCCCCCTCACCCTCCACCTCCCGCCCTCACCCTGCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCC CCTCATCCTGCACCTCCCCCCTCCACGCCCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0173 a0001c0001t0063g0173	1	268	0.0037	881	c.-37 others(892): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCCCCTC CACTCCCCCTCACCTCCCCCCCTTTCCACCTCCCCCCTCCACCTCCCCCC TCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACACCTC CCCCCTCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCC TGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCC TCACCCTGCACCTCCCTCTCGCCTGCACCTCCTCCCTCCCTCTCCCCCTC ACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACC TCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCC TCACCTCCCCCCTACACCTCCCCCTCACCCTCCACCTCCCGCCCTCACCC TGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTC CTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
ANXA2_chr15_60342151_60402986	60349841	A A	AGGGAGGC others(874): Show AGGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGA AGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAG GGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAG GGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAG GGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAG GCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGG GAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGG AGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGG AGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGC AGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGA AGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAG GGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAG GGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAG GGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAG GCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGG GAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG AGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGG AGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	334	0.0030	881	c.838 others(896): Show c.838-645_838-644insGCCTTCCCCTGCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCTCC C	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ARHGAP39_chr8_144524179_144690846	144687049	C C	CCCCTGTG others(874): Show CCCCTGTGACCACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCACTC ATTTACAGCGAGCACTTCTCACCCCCGTGACCACACACTGGCGGCGAGCA CTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAG CGAGCACTTCTCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCAC CCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACC ACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGA GCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCC CGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTG GCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCC CACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACA CACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGT GAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CGTGACCACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	246	0.0041	881	c.-14 others(892): Show c.-1446_-1445insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTG CTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTG TGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGG AAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCA GTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGT GGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCGCT GTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCA CGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTG CTCGCCGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCGCTGTAAATGA GTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACAGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1204		chr8	TogoVar
CCDC183_chr9_136791338_136812741	136803145	G G	GCCGGGGG others(874): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	398	0.0025	881	c.666 others(896): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAAGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC C	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803282	T T	TGGGGCCC others(874): Show TGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	398	0.0025	881	c.666 others(896): Show c.666+511_666+512insCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG C	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(874): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTC CCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCC TCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTC CTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCC CTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0245 a0001c0002t0002g0245	1	270	0.0037	881	c.162 others(902): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCC CCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCC TCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTC TTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTT CCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCC CCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTC CTCCCCT	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(874): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTC CCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCC TCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTC CTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCC CTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0230 a0001c0002t0044g0230	1	270	0.0037	881	c.162 others(902): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCC CCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCC TCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTC TTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTT CCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCC CCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTC CTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(874): Show GGTGGTGGTGATGATGATGATGATGATGGTGATGATGATGGTGATGATGG TGATGATGATGGTGATGATGAGGATGATGATGATGATGATGGTGATGATG ATGGTGATGATGATGGTGATGGTGATGATGACGGTGATGATGGTGATGGT GATGATGGTGGTGATGAGGATGATGATGGTGATGATGATGATGGTGATGA TGAGGATGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGATGATGGTGAT GATGATGATGGTGGTGATGATGATGGTGATGGTGATGATGGTGATGATGG TGATGATGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGATGGTGATGAGGATGATGATGATGGTGATGATGATGGTGGTGATGAT GGTGATGGTGATGGTGATGATGGTGATGATGATGATGATGGTGATGATGG TGATGATGATGATGGTGATGGTGATGATGGTGATGGTTATGATGGTGATG GTGATGATGGTGATGATGAGGATGATGATGGTGATGGTGATGATAAGGAT GATGATGATGATGAGGATGATGATGGTGATGACGATGATGGTGATGATGG TGATGACGATGATGGTGATTGTGATGATGGTGATGACGATGATGAGGATG GTGATGATGGTGATGATGATGGTGAGGATGGTGATGATGATGGTGATGAT GAGGATGGTGATGATGGTGATGATGATGGTGATGATGATGATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGATGATGGTGATTATGATGATG ATGATGATGGTGATGATGATGGTGATGATGAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0196 a0001c0001t0013g0196	1	320	0.0031	881	c.937 others(896): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGATGGTGA TGATGATGGTGATGATGGTGATGATGATGGTGATGATGAGGATGATGATG ATGATGATGGTGATGATGATGGTGATGATGATGGTGATGGTGATGATGAC GGTGATGATGGTGATGGTGATGATGGTGGTGATGAGGATGATGATGGTGA TGATGATGATGGTGATGATGAGGATGATGATGGTGATGATGGTGATGATG GTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGAT GGTGATGATGATGGTGATGATGATGATGGTGGTGATGATGATGGTGATGG TGATGATGGTGATGATGGTGATGATGATGATGGTGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGATGGTGATGAGGATGATGATGATGGTGAT GATGATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGA TGATGATGGTGATGATGGTGATGATGATGATGGTGATGGTGATGATGGTG ATGGTTATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGT GATGGTGATGATAAGGATGATGATGATGATGAGGATGATGATGGTGATGA CGATGATGGTGATGATGGTGATGACGATGATGGTGATTGTGATGATGGTG ATGACGATGATGAGGATGGTGATGATGGTGATGATGATGGTGAGGATGGT GATGATGATGGTGATGATGAGGATGGTGATGATGGTGATGATGATGGTGA TGATGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATG ATGGTGATTATGATGATGATGATGATGGTGATGATGATGGTGATGATGAT G	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTDP1_chr18_79674803_79759503	79726798	G G	GGGTGACG others(874): Show GGGTGACGCCGTTGCTGGTGGACTGCTGTCGGGGTGGGGTGACGCCGTTG CTGGTGGACGGCTGTGGGGGATGGGGGTGACACCATTGCTGGTGGACTGC TGTGGGGGAAGGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGG GGGTGACGCCATTGCTGGTGGACGGCTGTGGGGTGGGGTGACGCCGTTGC TGGTGGACGGCTGTGGGGGATGGGGGTGACGCCGTTGCTGGTGGACGGCT GTGGGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTGGGGGTGGGG TGACGCCGTTGCTGGTGGACGTCTGTGGGGGTGGGGTGACGCCGTTGCTG GTGGACTGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGATGGCTGTCA GGGTGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGAC GCCATTGCTGGTGGACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGG ACGGCTGTGGGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTGGGG GTGGGGTGACGCCGTTGCTGGTGGACTGCTGTGGGGGTGGGGTGACGCCG TTGCTGGTGGATGGCTGTCGGGGTGGGGTGACGCCGTTGCTGGTGGATGG CTGTGGGGGATGGGGGTGACGCCGTTGCTGGTGGATGGCTGTCGGGGTGG GGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCATT GCTGGTGGACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGATGGCT GTCGGGGTGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGG TGACGCCATTGCTGGTGGACGGCTGTGGGGGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0325 a0004c0004t0001g0325	1	378	0.0027	881	c.241 others(900): Show c.2418-2107_2418-2106insTGACGCCGTTGCTGGTGGACTGCTGT CGGGGTGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTG ACACCATTGCTGGTGGACTGCTGTGGGGGAAGGGGGTGACGCCGTTGCTG GTGGACGGCTGTGGGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGT GGGGTGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGA CGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCATTGCTGG TGGACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGACGTCTGTGGG GGTGGGGTGACGCCGTTGCTGGTGGACTGCTGTGGGGGTGGGGTGACGCC GTTGCTGGTGGATGGCTGTCAGGGTGGGGTGACGCCGTTGCTGGTGGACG GCTGTGGGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTGGGGGTG GGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCAT TGCTGGTGGACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGACTGC TGTGGGGGTGGGGTGACGCCGTTGCTGGTGGATGGCTGTCGGGGTGGGGT GACGCCGTTGCTGGTGGATGGCTGTGGGGGATGGGGGTGACGCCGTTGCT GGTGGATGGCTGTCGGGGTGGGGTGACGCCGTTGCTGGTGGACGGCTGTG GGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTGGGGGTGGGGTGA CGCCGTTGCTGGTGGATGGCTGTCGGGGTGGGGTGACGCCGTTGCTGGTG GACGGCTGTGGGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTGGG GGTGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(874): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGGAGTGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGGAGGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAAGGGGGAGGGGAG GGGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAG GGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGGAGGGGAAGGGGA AGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGAC AGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0164 a0002c0002t0013g0164	1	216	0.0046	881	c.923 others(900): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCC TCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCC CCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTC CCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCCCCTCCCCTCCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCACTCCCCCTCCCCCTCCCCATCCCTCCATTCCT CCATTCCTCCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC CTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DDX51_chr12_132131594_132149319	132149050	C C	CACCACAC others(874): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCACTCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	881	c.-47 others(892): Show c.-4755_-4754insTGTGAGTGAGGCGGCCGCACTCACCGAGGGGATT AGGGGTGTGGTGTGAGTGAGGCGGCCGCACTCACCGAGGGGATTAGGGGT GTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTG TGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTG AGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGG CCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCAC TCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCG AGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCCGCACTCACCGAGGGGA TTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGG GTGTGGTGTGAGTGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGG TGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAG TGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGC GGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCCGC ACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCAC CGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGG GATTAGGGGTGTGGTGTGAGTGAGGCGGCCGCACTCACCGAGGGGATTAG GGGTGTGGTGTGAGTGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGT GGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4732		chr12	TogoVar
DIP2C_chr10_269201_694668	516601	G G	GAGGGGGG others(874): Show GAGGGGGGAAGGGGCGAAGGGGAAGGGGGTAAGGTGGACAGTGGGACAGG GGAAGGGGGTAAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGG GTAGGGTGGGAGGGGGGGACAGGGGTAGGGTGGGAGGGGGGGACGGGGTA GGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTG GGAGGGGGGACGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGG GGGGGACGGGGTAGGGTGGGGGGGGGGACGGGGTAGGGTGGGAGGGGGGA CGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGT AGGGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGGT GGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGGTGGGA GGGGGGGACGGGGTAGGGTGGGGGGACACAGGGGGTAGGGTGGGGGGGGA CACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGACAGGGG GTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGAGGGGACAGGGGGTAGGG TGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGG GGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACA CGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGT AGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTG GGGGGGGACAGGGGGTAGGGTGGGGGGGACACGGGGTAGGGTGGGGGGGG ACACGGGGTAGGGTGGGGGGGGACAGGGGGTA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0011 a0001c0018t0003g0011	1	88	0.0114	881	c.86- others(898): Show c.86-30072_86-30071insTACCCCCTGTCCCCCCCCACCCTACCCC GTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCACCCTACCCCCTGTCCC CCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCA CCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTAC CCCGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTG TCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCCTGTCCCCC CCCACCCTACCCCCTGTCCCCTCCCACCCTACCCCCTGTCCCCCCCCACC CTACCCCCTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCC CGTGTCCCCCCCCACCCTACCCCCTGTGTCCCCCCACCCTACCCCGTCCC CCCCTCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCGTCCCCCCC TCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCGTCCCCCCTCCCA CCCTACCCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCTCCCACCCTAC CCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCCCCCACCCTACCCCGTC CCCCCCTCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCGTCCCCC CTCCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCCTCCC ACCCTACCCCGTCCCCCCCTCCCACCCTACCCCTGTCCCCCCCTCCCACC CTACCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTTACCCCC TTCCCCTGTCCCACTGTCCACCTTACCCCCTTCCCCTTCGCCCCTTCCCC CCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
FCMR_chr1_206898317_206926941	206924611	T T	TGAGTGTG others(874): Show TGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTTCTCTGTC TAGTGTGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTGGTGTGTGTCCA TGAGTGTGTGTGTGCTCTGTAGAGTGTGTAAGTGTGTGGCGTGTGGCTAT GAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTG TGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGT GTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGCT CTGTCTAGTGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGT GATGTGTGTCCATGAGTGTGTGTGTGCTCCGTGGAGTGTGTGAATGTGTG GTGTGTGGCTATGAGTGTGTGTGAATGTGTGGTGTGTGGCTATGTGTGTG TGCTATGTGTTGTGTGTGGTATGTAGTTATGAGTGTGTGTCACTGCGTGG TGTGTGGCTATGAGTGTGTGTGTGCGCACTCTATGCTCTGTCTAGTGTGT GTGTGGTTGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTT CTCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGT GGTGTGTGTCCATGAGTGTGTGTGCTCTGTAGAGTGTGTGAGTGTGTGGC GTGTGGCTATGAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTG GCTATGAGTGTGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTAC GAGTGTGTGTGTGCTCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTG GTGTGCATCCATGAGTGTGTGTATGCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02015.hp2 HG02040.hp1 others(10): Show HG00621.hp1 HG02015.hp2 HG02040.hp1 HG02132.hp2 HG02135.hp1 NA18964.hp2 NA18972.hp2 NA18973.hp1 NA18983.hp1 NA18984.hp2 NA18995.hp1 NA19056.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 others(6): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0003g0030 a0001c0001t0003g0064	13	380	0.0342	881	c.-27 others(892): Show c.-2758_-2757insCACAGAGCATACACACACTCATGGATGCACACCA CACACATAACCACACACCACACACACTAGACAGAGCACACACACACTCGT AGCCACACACCACACACACACTCCACAGAGCACACACACACTCATAGCCA CACACCACACACACACTCCACAGTGCACACACACACTCATAGCCACACGC CACACACTCACACACTCTACAGAGCACACACACTCATGGACACACACCAC ACACACAATCACACACACATAACCACACACCACACACACTAGACAGAGAA CACACACACTCATAACTACACACCACACACTCACACACTCAACCACACAC ACACTAGACAGAGCATAGAGTGCGCACACACACACTCATAGCCACACACC ACGCAGTGACACACACTCATAACTACATACCACACACAACACATAGCACA CACACATAGCCACACACCACACATTCACACACACTCATAGCCACACACCA CACATTCACACACTCCACGGAGCACACACACACTCATGGACACACATCAC ACACACAATCACACACACATAACCACACACCACACACACACTAGACAGAG CACACACACTCATAGCCACACACCACACACACACTCCACAGAGCACACAC ACACACTCATAGCCACACACCACACACACACTCCACAGAGCACACACACA CTCATAGCCACACACCACACACACACTCCACAGTGCACACACACACTCAT AGCCACACGCCACACACTTACACACTCTACAGAGCACACACACACTCATG GACACACACCACACACACAATCACACACACATAACCACACACACACTAGA CAGAGAACACACACACTCATAACTACACACCACACACTCACACACTC	FCMR	ENSG00000162894.12	transcript	ENST00000367091.8	protein_coding		2671		chr1	TogoVar
FOXK2_chr17_82514732_82609602	82586510	A A	AGGAGGAG others(874): Show AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTGAAAGGTGGGCGGGGGGGAAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0223 a0001c0001t0019g0223	1	308	0.0033	881	c.157 others(898): Show c.1576+337_1576+338insGAAAGGTGGGCGGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGA GGT	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GTPBP6_chrX_299759_323796	321751	C C	CAAAAAAA others(874): Show CAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGT GGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTT GAGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTAT CTACAAAAAAAAAAAAAAAAAGAAAACCGGGCGTGGTGGTGGGTGCCTGT GGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGA GTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAA AAAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTG TGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGG AGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAA AAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTACCTGTGGTCCCAG CTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACA CCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAA AAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGC TGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAA TATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAAAAGAA AGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCG GGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCAT GGGCAATATGGTAAGACCCCATTATCTACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0002 a0013c0016t0002	a0013c0016t0002g0009 a0013c0016t0002g0009	1	155	0.0065	881	c.-29 others(892): Show c.-2965_-2964insTTTGTAGATAATGGGGTCTTACCATATTGCCCAT GCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCG AGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTT CTTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATT GCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGC GTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTTT TTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTG TCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCT GGGACCACAGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTT TTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCC TGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACA GGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTTTTT TTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTC CTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCAC AGGCACCCACCACCACGCCCGGTTTTCTTTTTTTTTTTTTTTTTGTAGAT AATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAA GCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCAC CACCACGCCCGGCTAATTTTTCTTTTCTTTCTTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2956		chrX	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(874): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATAATATATATTTTATATATATTATATATTTTAT ATATAATATATATTTTATATATATTATATATTTTATATATAATATATATA TATTATATATAATATATATTATATATAATATATATATTATATAAAATATA TAATATATATCTTATATATATCATATATTTTATATATATCATATATTTTA TATATATCATATATTTTATATATAATATATATTATATATACATTATATAA TATATATTATATTATATATAATATATTATATAATATATATTATATATTAT ACGTAATATATAATGTATATTATATATAATATACATTATATAATGTATAT TATATATAATATACATTATATACAATGTATATTATATATAATATACATTG TATATAATGTATATTACATATAATATACATTATATAATGTATATTACATA TAATATACATTGTATATAATGTATATTACATATAATATACATTGTATATA ATGTATATTACATATAATATACATTATATATAATGTGTATATTACATGTA ATATACATTATATATAATGTATATTATATGTAATATATACATTATATAAT GTGTATATTATATGTAATATATACATTATATATAATGTATATATTACATG TAATATATACATTATATATAATGTATATATTACATGTAATATATACATTA TATATAATGTATATTATATGTAATATATACATTATATAATGTATATTATA TGTAATATATACATTATATATAATGTATATTATATGTAATATATACATTA TATAATGTATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	350	0.0029	881	c.94- others(894): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATAATATATATTTTATA TATATTATATATTTTATATATAATATATATTTTATATATATTATATATTT TATATATAATATATATATATTATATATAATATATATTATATATAATATAT ATATTATATAAAATATATAATATATATCTTATATATATCATATATTTTAT ATATATCATATATTTTATATATATCATATATTTTATATATAATATATATT ATATATACATTATATAATATATATTATATTATATATAATATATTATATAA TATATATTATATATTATACGTAATATATAATGTATATTATATATAATATA CATTATATAATGTATATTATATATAATATACATTATATACAATGTATATT ATATATAATATACATTGTATATAATGTATATTACATATAATATACATTAT ATAATGTATATTACATATAATATACATTGTATATAATGTATATTACATAT AATATACATTGTATATAATGTATATTACATATAATATACATTATATATAA TGTGTATATTACATGTAATATACATTATATATAATGTATATTATATGTAA TATATACATTATATAATGTGTATATTATATGTAATATATACATTATATAT AATGTATATATTACATGTAATATATACATTATATATAATGTATATATTAC ATGTAATATATACATTATATATAATGTATATTATATGTAATATATACATT ATATAATGTATATTATATGTAATATATACATTATATATAATGTATATTAT ATGTAATATATACATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
IQCB1_chr3_121764761_121840060	121786171	A A	AAAGAAAA others(874): Show AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGGAAAAGAAAAGAAAAG AAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAGAAAAGAAAAGA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAA AAGAAAAGAAAAGAAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAAAGAAGAAAAGA AAAGAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGGAAAGAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAGAACAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGA AAAGAAAAGAAAAGAAAGAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0116 a0002c0003t0001g0116	1	308	0.0033	881	c.127 others(900): Show c.1278+2112_1278+2113insCTTTTCTTTTCTTTCTTTCTTTTCTT TTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTGTTCTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TTCTTTTCTTTTCTTCTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTTCTTTTCT TTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTCTTTTCTTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTTTCTTTTCTTTTCTTTTCCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132173147	C C	CCTCTCTC others(874): Show CCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTC TCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTC CCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCT CCTTCCCTCTCTCTCTCCCCCTCCTTCCTCTCTCTCTCCCCTCCCTCCCC CTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCT CTCTCCCCCTCCCCCCTCTCTCTCCCCCCTCCCCCCTCCCCCTCTCTCCC CTCCCCCTCCCCTCTCTCCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCC CCTCCCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTCTCT CCCCCTTCCCTCCCCCCTCTCCCCCTCCTCTCCCCCCTCCCCCTCCCCCC ATCCCCCTCCCCCGTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCATCCCC ATCCCCCTCCTTCCCTCTCCCCCTCCCCCATCCCCATCCCCCTCCTTCCC TCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTC CCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCC CTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCC TCCTTCCCTCTGTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCC TTCCCCCTGTCTCTCTCTCCCCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0003 a0003c0018t0003	a0003c0018t0003g0101 a0003c0018t0003g0101	1	158	0.0063	881	c.11 others(902): Show c.1103+4125_*1103+4126insCCCCTCCTTCCCTCTCTCTCTCCC CCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCT TCCCTCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCT CTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCTCTCTCTC TCCCCTCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCC CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCC TCCCCCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCT CCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCCTCCCCCC TCCCCCTCTCTCCCCTCCCCCTCCCCTCTCTCCCCCCTCCCCCCCTCCCC CTCCCCCCTCCCCCCCTCCCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCT CTCCCCCTCTCTCTCCCCCTTCCCTCCCCCCTCTCCCCCTCCTCTCCCCC CTCCCCCTCCCCCCATCCCCCTCCCCCGTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCATCCCCA TCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCC TCCTTCCCTCTCTCCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCT CTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCT CTCTCTCCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTTCCCTCTCT CTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCCTCTCT CTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(874): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACC CCCCCACAGCCGCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGC CGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCAC AGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCC CACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0262 a0005c0010t0001g0262	1	312	0.0032	881	c.-41 others(896): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCAC CCCCCCACAGCCGCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAG CCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCC CCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCC C	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KLHDC4_chr16_87702812_87770986	87739065	C C	CCTCATCC others(874): Show CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCC ACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCAC CTCATCCACCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCA CACACCAGCATCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAG CACCTCATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACC TCATCCATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACA CACCAGCACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	380	0.0026	881	c.507 others(898): Show c.507-8422_507-8421insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGG ATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGA TGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGAT GAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739071	C C	CCATCCAC others(874): Show CCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCAT CCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATC CATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCACC CACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCA TCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCATCCATCC ACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCA TCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCA CACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	380	0.0026	881	c.507 others(898): Show c.507-8428_507-8427insAGATGCTGGTGTGTGGATGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGG TGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGT GTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGAT GAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTG TGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGG ATG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(874): Show CCTCCCCCTCTCCCTCTCCATCACCCCCTCTCCATCACCCTCCCTTCTCT CCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTTCCCACTGCCTCTCCAT CCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGTCCCCTCTCCCTCTCT TCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCCCTTCCCCTTTCCGC TCTCCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCCCTCCCTCTCCCC CTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCCC CTCCTTCTCCATCCCCCTCCCCATCCCCCGCTCCCCTCTCCCTCTCTCCC CTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCTT CTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTCCCCCTCTTCCCT CTCCCTCTCCATCCCCATCCCCATCCCCTCTCCCTCTCCATCCCCATCCC CCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCTCCATCCTCCTCCC CATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCCTCTTCCCTCTCCCTTCC CCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCCACTCTCCTCCCC CACTCCCCTCCCCATCTCCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCC TCCCCCTCTCCCCCTCCCCACTCTGCCTCCCCATCTCCCCCTCCTCCTCT CCCCCTCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCC ACCCCTCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCTCCCTTCTCCCCC ACCCCTCCCCCTCCCCCTCTCCCCTTCCCCCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0021 a0001c0005t0021	a0001c0005t0021g0108 a0001c0005t0021g0108	1	276	0.0036	881	c.100 others(900): Show c.1005+3279_1005+3280insTCCCTCTCCATCACCCCCTCTCCATC ACCCTCCCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTTCC CACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGTC CCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCC CTTCCCCTTTCCGCTCTCCCCCCTCCCTCTCTCCCACTTTGCTCACTCCC CCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCC TCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCCGCTCCCC TCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTC TTCCCCCTCCCCTTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCC TCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCATCCCCTCTCCCTC TCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTC TCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCCTCT TCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCC CCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCCCATCTCCCCC TCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTGCCTCCCCATCT CCCCCTCCTCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCCCTCTC CCCCCTTCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCCCCTCTC CTCCCTTCTCCCCCACCCCTCCCCCTCCCCCTCTCCCCTTCCCCCTCTCC CCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCTCCA others(874): Show CCTCTCCATCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCTCCATCC ACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTCCCACTG CCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGTCCCCTC TCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCCTTCCCTCTCCCCTTC CCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCCCCT CCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCCTTTCCCCCTCCT CCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCC CTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCC CCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTCCCC CTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCTCCA TCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCTCCA TCCTCCTCCCCATCCCCTCTCCTCTCTCCCCTTCTTTCCCCCCTTCCCTC TCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCCACTC TCCTCCCCCACTCCCATCCCCATCTCCCCCTCCCCATCTCCCCCTCCTCC TCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTGCCTCCCCATCTCCCCCT CCTCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCCC CCTCTCCCCCCTTCTCCCCCACCCCCTCCCCACTCTCCCTCCCCCTCTCC CCCTCTCCCCCTTCTCCCCCACCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	276	0.0036	881	c.100 others(900): Show c.1005+3273_1005+3274insTCCATCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCC ACTTTGCTCACTCCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCC CTCCCCCCTTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCC CCATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCC TTCCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCC CTCTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCC CCATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCC CCCATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCC CTTCTTTCCCCCCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCC CCCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCATCCCCATCTCCCCC TCCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACT CTGCCTCCCCATCTCCCCCTCCTCCTCTCCCCCTCCCCACTCTCCCTCCC CCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCCTCCC CACTCTCCCTCCCCCTCTCCCCCTCTCCCCCTTCTCCCCCACCCCTCCCC CTCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94348443	C C	CTCCCTCA others(874): Show CTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCTCCATCCACC TCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTCCCACTGCCT CTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGTCCCCTCTCC CTCTCTTCCCTTTCCCCTTTCCTCTCCCCTTCCCCTTTCCCCTCTCCCCC TCCCTCTCTCCCACTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCT CCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCC ATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTT CCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCCCTC TCTCTCCTTCCCCCTCTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCT CCATCCCCATCCCCCATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGC CTATCCCTTCTCCCCCATTCCCCTCCCTCTCATCCTCCTCCCCATCCCCT CTCCTCTCTCCCCCTCTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCT TCTCCCCCTCTCCCCCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCT CCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTC TCCCTCCCCCTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCTCCCCCTCTC CCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCC CTCCCCACTCTCCCTCCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCTTCT CCCCCACCCCTCCCCCTCCCCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0023 a0001c0010t0023	a0001c0010t0023g0266 a0001c0010t0023g0266	1	276	0.0036	881	c.100 others(900): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCTCTCC CCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCC CCCTCCCTCTCCCCCTTTCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCC CCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCC CTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCCT CTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCC CTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCC TCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCC TCTCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCT TCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCC CCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCC TCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCC CTCCCCCTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCC CTCTCCCCCCTTCTCCCCCACCCCTCCCCACTCTCCCTCCCCCCTCTCCC CCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCCCTCTCC CCCCT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22			chr15	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(874): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCGCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCT CCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCC CTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCCC CTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCC CTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTC CCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTC CTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTC CCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTC CTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTC TCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTC TCCTCCACTCCTCTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTC TCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTC CCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTC CCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0062 a0001c0003t0005g0062	1	318	0.0031	881	c.-49 others(892): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGG GAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGG GAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GCGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGG AGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGG AGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGG AGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(874): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGG AGGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGG GAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGG GAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGG AGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGC AGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGA GGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGG GAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGG GAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAG GAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGA GGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAG GGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0030 a0030	a0030c0056 a0030c0056	a0030c0056t0001 a0030c0056t0001	a0030c0056t0001g0045 a0030c0056t0001g0045	1	280	0.0036	881	c.641 others(896): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTC TCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCC CCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTA CTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTC CTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCC TCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTC TCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCC CTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTCACTCTT CTCTCCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCT TCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCC CTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACT C	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(874): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG GATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGG CAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGA CAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGTGGGCAGGGACAGTGGG GGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGC AGGGACAGTGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGCGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTG AGGGGGGGATGGGCAGGGACGGTGAGGGGGGGGATGGGCAGGGACGGTGA GGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGG CAGGGACAGTGGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGG GACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGG GGGGCGATGGGCAGGGACAGTGGGGGGGGGATGGGCAGGGACAGTGGGGG GGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGTGG GCAGGGACAGTGGGGGGTGGGCAGGGACAGTA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0212 a0001c0001t0007g0212	1	324	0.0031	881	c.141 others(898): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCA TCCCCCCCCACTGTCCCTGCCCATCCCCCCCCCACTGTCCCTGCCCATCG CCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCAC TGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCCACTGTC CCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATC CCCCTCACCGTCCCTGCCCATCCCCCCCCTCACCGTCCCTGCCCATCCCC CCCTCACCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCC CACTGTCCCTGCCCATCGCCCCACTGTCCTTGCCCATCCCCCTCACTGTC CCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGC CCACCCCCCACTGTCCTTGCCCATCCCCCCCACTGTCCCTGCCCATCCCC CCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCACTGT CCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ACCCCCCACTGTCCCTGCCCACCCCCCCACTGTCCCTGCCCATCCCCCCC ACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTC CCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCC CATCCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCC ATCCCCCCCGCACCGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACC CCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPSR1_chr7_34653218_34854978	34800834	A A	AAAAAAAG others(874): Show AAAAAAAGACTTTTACTGATTGCCATTCTAACTGGTGTGAGATGGTATCT CACTACAGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGGTGAGCATT TTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAAAAGTGTCTG TTCATGTCCTTCGCCCACTTTGCTGGAGAGGATGTGGAGAAATAGGAACA CTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCCTTGTGGAAGTC AGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAG CCATCCCATTACTGGGTATTTACCCAAAGGACTATAAATCATGCTGCTAT AAAGACACATGCACACATATGTTTATTGCGGCACTATTCACAATAGCAAA GACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAA TGTGGCATATATACACCATGGAATACTATGCAGCCATAAAAAAGGATGAG TTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAG TAAACTATCACAAGAACAAAAAATCAAACACCGCATATTCTCACTCATAG GTGGGAACTGAACAGTGAGAACACATGGACACAGGAAGGGGAACATCACA CTCTGGGGACTGTTGTGGGGTGGGCGGAGGGGGGAGGGATAGCTTTAGGA GATATACCTAATGCTAAATGATGAGTTAATGGGTGCAGCATCTAGCATGG TACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAA AACTTAAAGTATAATAATAATAAAATAAAAGAATTGCTTGTGGTTATAAA AATAATAAAAATGAGTTGTCTATAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00544.hp2 others(93): Show HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02080.hp2 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19070.hp1 NA19072.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0009 a0019	a0002c0001 a0004c0003 a0004c0020 others(3): Show a0002c0001 a0004c0003 a0004c0020 a0005c0004 a0009c0013 a0019c0018	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(16): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0006 a0002c0001t0007 a0002c0001t0009 a0004c0003t0002 a0004c0003t0004 a0004c0003t0005 a0004c0003t0010 a0004c0020t0004 a0005c0004t0001 a0005c0004t0003 a0005c0004t0005 a0005c0004t0006 a0009c0013t0002 a0009c0013t0004 a0019c0018t0001	a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0017 others(91): Show a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0017 a0002c0001t0001g0021 a0002c0001t0001g0022 a0002c0001t0001g0025 a0002c0001t0001g0027 a0002c0001t0001g0029 a0002c0001t0001g0032 a0002c0001t0001g0033 a0002c0001t0001g0036 a0002c0001t0001g0038 a0002c0001t0001g0043 a0002c0001t0001g0050 a0002c0001t0001g0055 a0002c0001t0001g0062 a0002c0001t0001g0076 a0002c0001t0001g0081 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0088 a0002c0001t0001g0089 a0002c0001t0001g0090 a0002c0001t0001g0100 a0002c0001t0001g0105 a0002c0001t0001g0107 a0002c0001t0001g0170 a0002c0001t0002g0174 a0002c0001t0002g0181 a0002c0001t0003g0144 a0002c0001t0003g0151 a0002c0001t0003g0162 a0002c0001t0003g0190 a0002c0001t0003g0193 a0002c0001t0003g0206 a0002c0001t0003g0240 a0002c0001t0003g0245 a0002c0001t0004g0028 a0002c0001t0006g0019 a0002c0001t0006g0079 a0002c0001t0006g0094 a0002c0001t0006g0096 a0002c0001t0007g0235 a0002c0001t0009g0080 a0004c0003t0002g0030 a0004c0003t0002g0123 a0004c0003t0002g0132 a0004c0003t0002g0146 a0004c0003t0002g0176 a0004c0003t0002g0178 a0004c0003t0002g0179 a0004c0003t0002g0198 a0004c0003t0002g0203 a0004c0003t0002g0204 a0004c0003t0002g0205 a0004c0003t0002g0227 a0004c0003t0002g0243 a0004c0003t0002g0249 a0004c0003t0004g0018 a0004c0003t0004g0024 a0004c0003t0004g0026 a0004c0003t0004g0034 a0004c0003t0004g0035 a0004c0003t0004g0037 a0004c0003t0004g0104 a0004c0003t0005g0097 a0004c0003t0010g0219 a0004c0020t0004g0092 a0005c0004t0001g0023 a0005c0004t0001g0098 a0005c0004t0001g0101 a0005c0004t0001g0108 a0005c0004t0001g0109 a0005c0004t0001g0201 a0005c0004t0003g0129 a0005c0004t0003g0180 a0005c0004t0003g0183 a0005c0004t0003g0184 a0005c0004t0003g0186 a0005c0004t0003g0191 a0005c0004t0003g0194 a0005c0004t0003g0196 a0005c0004t0003g0197 a0005c0004t0003g0199 a0005c0004t0003g0200 a0005c0004t0003g0212 a0005c0004t0005g0078 a0005c0004t0006g0185 a0009c0013t0002g0130 a0009c0013t0002g0241 a0009c0013t0004g0102 a0019c0018t0001g0099	96	260	0.3692	881	c.385 others(900): Show c.385-10935_385-10934insAAAAAGACTTTTACTGATTGCCATTC TAACTGGTGTGAGATGGTATCTCACTACAGTTTTGATTTGCATTTCTCTG ATGGCCAGTGATGGTGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAAT GTCTTCTTTTGAAAAGTGTCTGTTCATGTCCTTCGCCCACTTTGCTGGAG AGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAAC TAGTTCAACCCTTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAA CTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATTTACCCAAA GGACTATAAATCATGCTGCTATAAAGACACATGCACACATATGTTTATTG CGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACA ATGATAGACTGGATTAAGAAAATGTGGCATATATACACCATGGAATACTA TGCAGCCATAAAAAAGGATGAGTTCATGTCCTTTGTAGGGACATGGATGA AATTGGAAATCATCATTCTCAGTAAACTATCACAAGAACAAAAAATCAAA CACCGCATATTCTCACTCATAGGTGGGAACTGAACAGTGAGAACACATGG ACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGCGGA GGGGGGAGGGATAGCTTTAGGAGATATACCTAATGCTAAATGATGAGTTA ATGGGTGCAGCATCTAGCATGGTACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATAA AAGAATTGCTTGTGGTTATAAAAATAATAAAAATGAGTTGTCTATAAAAA AAAGA	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34800834	A A	AAAAAAAG others(874): Show AAAAAAAGACTTTTACTGATTGCCATTCTAACTGGTGTGAGATGGTATCT CACTACAGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGGTGAGCATT TTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAAAAGTGTCTG TTCATGTCCTTCGCCCACTTTGCTGGAGAGGATGTGGAGAAATAGGAACA CTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCCTTGTGGAAGTC AGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAG CCATCCCATTACTGGGTATTTACCCAAAGGACTATAAATCATGCTGCTAT AAAGACACATGCACACATATGTTTATTGCGGCACTATTCACAATAGCAAA GACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAA TGTGGCATATATACACCATGGAATACTATGCAGCCATAAAAAAGGATGAG TTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAG TAAACTATCACAAGAACAAAAAATCAAACACTGCATATTCTCACTCATAG GTGGGAACTGAACAGTGAGAACACATGGACACAGGAAGGGGAACATCACA CTCTGGGGACTGTTGTGGGGTGGGCGGAGGGGGGAGGGATAGCTTTAGGA GATATACCTAATGCTAAATGATGAGTTAATGGGTGCAGCATCTAGCATGG TACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAA AACTTAAAGTATAATAATAATAAAATAAAAGAATTGCTTGTGGTTATAAA AATAATAAAAATGAGTTGTCTATAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0208 a0004c0003t0002g0208	1	260	0.0039	881	c.385 others(900): Show c.385-10935_385-10934insAAAAAGACTTTTACTGATTGCCATTC TAACTGGTGTGAGATGGTATCTCACTACAGTTTTGATTTGCATTTCTCTG ATGGCCAGTGATGGTGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAAT GTCTTCTTTTGAAAAGTGTCTGTTCATGTCCTTCGCCCACTTTGCTGGAG AGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAAC TAGTTCAACCCTTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAA CTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATTTACCCAAA GGACTATAAATCATGCTGCTATAAAGACACATGCACACATATGTTTATTG CGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACA ATGATAGACTGGATTAAGAAAATGTGGCATATATACACCATGGAATACTA TGCAGCCATAAAAAAGGATGAGTTCATGTCCTTTGTAGGGACATGGATGA AATTGGAAATCATCATTCTCAGTAAACTATCACAAGAACAAAAAATCAAA CACTGCATATTCTCACTCATAGGTGGGAACTGAACAGTGAGAACACATGG ACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGCGGA GGGGGGAGGGATAGCTTTAGGAGATATACCTAATGCTAAATGATGAGTTA ATGGGTGCAGCATCTAGCATGGTACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATAA AAGAATTGCTTGTGGTTATAAAAATAATAAAAATGAGTTGTCTATAAAAA AAAGA	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34800834	A A	AAAAAAAG others(874): Show AAAAAAAGACTTTTACTGATTGCCATTCTAACTGGTGTGAGATGGTATCT CACTACAGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGGTGAGCATT TTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAAAAGTGTCTG TTCATGTCCTTCGCCCACTTTGCTGGAGAGGATGTGGAGAAATAGGAACA CTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCCTTGTGGAAGTC AGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAG CCATCCCATTACTGGGTATTTACCCAAAGGACTATAAATCATGCTGCTAT AAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAA GACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAA TGTGGCATATATACACCATGGAATACTATGCAGCCATAAAAAAGGATGAG TTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAG TAAACTATCACAAGAACAAAAAATCAAACACCGCATATTCTCACTCATAG GTGGGAACTGAACAGTGAGAACACATGGACACAGGAAGGGGAACATCACA CTCTGGGGACTGTTGTGGGGTGGGCGGAGGGGGGAGGGATAGCTTTAGGA GATATACCTAATGCTAAATGATGAGTTAATGGGTGCAGCATCTAGCATGG TACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAA AACTTAAAGTATAATAATAATAAAATAAAAGAATTGCTTGTGGTTATAAA AATAATAAAAATGAGTTGTCTATAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp2 HG02280.hp2 HG02976.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0192 a0005c0004t0003g0254 a0005c0004t0003g0192 a0005c0004t0003g0254	2	260	0.0077	881	c.385 others(900): Show c.385-10935_385-10934insAAAAAGACTTTTACTGATTGCCATTC TAACTGGTGTGAGATGGTATCTCACTACAGTTTTGATTTGCATTTCTCTG ATGGCCAGTGATGGTGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAAT GTCTTCTTTTGAAAAGTGTCTGTTCATGTCCTTCGCCCACTTTGCTGGAG AGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAAC TAGTTCAACCCTTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAA CTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATTTACCCAAA GGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTG CGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACA ATGATAGACTGGATTAAGAAAATGTGGCATATATACACCATGGAATACTA TGCAGCCATAAAAAAGGATGAGTTCATGTCCTTTGTAGGGACATGGATGA AATTGGAAATCATCATTCTCAGTAAACTATCACAAGAACAAAAAATCAAA CACCGCATATTCTCACTCATAGGTGGGAACTGAACAGTGAGAACACATGG ACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGCGGA GGGGGGAGGGATAGCTTTAGGAGATATACCTAATGCTAAATGATGAGTTA ATGGGTGCAGCATCTAGCATGGTACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATAA AAGAATTGCTTGTGGTTATAAAAATAATAAAAATGAGTTGTCTATAAAAA AAAGA	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34800834	A A	AAAAAAAG others(874): Show AAAAAAAGACTTTTACTGATTGCCATTCTAACTGGTGTGAGATGGTATCT CACTACAGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGGTGAGCATT TTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAAAAGTGTCTG TTCATGTCCTTCGCCCACTTTGCTGGAGAGGATGTGGAGAAATAGGAACA CTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCCTTGTGGAAGTC AGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAG CCATCCCATTACTGGGTATTTACCCAAAGGACTATAAATGATGCTGCTAT AAAGACACATGCACACATATGTTTATTGCGGCACTATTCACAATAGCAAA GACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAA TGTGGCATATATACACCATGGAATACTATGCAGCCATAAAAAAGGATGAG TTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAG TAAACTATCACAAGAACAAAAAATCAAACACCGCATATTCTCACTCATAG GTGGGAACTGAACAGTGAGAACACATGGACACAGGAAGGGGAACATCACA CTCTGGGGACTGTTGTGGGGTGGGCGGAGGGGGGAGGGATAGCTTTAGGA GATATACCTAATGCTAAATGATGAGTTAATGGGTGCAGCATCTAGCATGG TACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAA AACTTAAAGTATAATAATAATAAAATAAAAGAATTGCTTGTGGTTATAAA AATAATAAAAATGAGTTGTCTATAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0252 a0002c0001t0003g0252	1	260	0.0039	881	c.385 others(900): Show c.385-10935_385-10934insAAAAAGACTTTTACTGATTGCCATTC TAACTGGTGTGAGATGGTATCTCACTACAGTTTTGATTTGCATTTCTCTG ATGGCCAGTGATGGTGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAAT GTCTTCTTTTGAAAAGTGTCTGTTCATGTCCTTCGCCCACTTTGCTGGAG AGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAAC TAGTTCAACCCTTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAA CTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATTTACCCAAA GGACTATAAATGATGCTGCTATAAAGACACATGCACACATATGTTTATTG CGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACA ATGATAGACTGGATTAAGAAAATGTGGCATATATACACCATGGAATACTA TGCAGCCATAAAAAAGGATGAGTTCATGTCCTTTGTAGGGACATGGATGA AATTGGAAATCATCATTCTCAGTAAACTATCACAAGAACAAAAAATCAAA CACCGCATATTCTCACTCATAGGTGGGAACTGAACAGTGAGAACACATGG ACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGCGGA GGGGGGAGGGATAGCTTTAGGAGATATACCTAATGCTAAATGATGAGTTA ATGGGTGCAGCATCTAGCATGGTACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATAA AAGAATTGCTTGTGGTTATAAAAATAATAAAAATGAGTTGTCTATAAAAA AAAGA	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(874): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCCCCTCCCCCCCTCCCCT TCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCC TTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTC CCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCC TTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0219 a0001c0001t0024g0219	1	326	0.0031	881	c.433 others(898): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGG GGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAG GGGAAGGGGAGGGGGGGAGGGGGGGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(874): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATACATGTATTACATATATGTATTACATATATAACATACATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATACATGTATTACATATATGTATTACATATATAACATA CATGTATTACATATATGTATTACATATATAACATGTATTACATATATGTA TTACATATATGTAATACATATATAACATGTATTACATATATGTAATACAT ATATAACATGTATTACATATATGTATTACATATATGTAATACATATATAA CATGTATTACATATATGTAATACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	881	c.70 others(892): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATACATGTATTACATATATGTATTACAT ATATAACATACATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATACATGTATTACATATATGTAT TACATATATAACATACATGTATTACATATATGTATTACATATATAACATG TATTACATATATGTATTACATATATGTAATACATATATAACATGTATTAC ATATATGTAATACATATATAACATGTATTACATATATGTATTACATATAT GTAATACATATATAACATGTATTACATATATGTAATACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(874): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGCGGGGTGTGGG GATGCACTGAGTCGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCGGG GGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGCGGGGTGTGG GGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCGG GGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGCGGGGTGTG GGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGA GTCTGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGG GCGTGGGGATGCACTGAGTCGGGGGGAGGGCGGGGTGTGGGGATGCACTG AGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGCGG GGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACT GAGTCTGGGTGGGGGGGGGTGTGGGGATGCACTGAGTCTGGGAGGAGGGC GGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGTGGGGCGTGGGGATGCA CTGAGTCTGGGGGAGGGGGGGGCGTGGGGATGCACTGAGTCGGGGGGAGG GGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGC ACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGA GGGCGGGGTGTGGGGATGCACTGAGTCTGGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0021 a0021	a0021c0069 a0021c0069	a0021c0069t0001 a0021c0069t0001	a0021c0069t0001g0114 a0021c0069t0001g0114	1	282	0.0036	881	c.299 others(896): Show c.2992-13_2992-12insCCCCAGACTCAGTGCATCCCCACACCCCGC CCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCA GTGCATCCCCACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCTCCCCCCGACTCAGTGCATCCCCACGCCCCCCCCTCCCCCAGACTC AGTGCATCCCCACGCCCCACCCTCCCCCAGACTCAGTGCATCCCCACACC CCGCCCTCCTCCCAGACTCAGTGCATCCCCACACCCCCCCCCACCCAGAC TCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACA CCCCGCCCTCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGA CTCAGTGCATCCCCACACCCCGCCCTCCCCCCGACTCAGTGCATCCCCAC GCCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCAG ACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCA CACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCC CCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATC CCCACACCCCGCCCTCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCC CCCCGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCAT CCCCACACCCCGCCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC CCCCCGACTCAGTGCATCCCCACACCCCGCCCTCCCCCCGACTCAGTGCA TCCCCACACCCCGCCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCT C	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(874): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGG GGATGCACTGAGTCTGGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTG GGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGT GGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTC TGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGT GTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAG TCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGG GTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGCGTGGGGATGCACTG AGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCG GGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCAC TGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGATGGG CGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGC ACTGAGTCGGGGGGAGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAG GGGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGC ACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGA GGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGAT GCACTGAGTCTGGGGGAGGGGGGGGCGTGGGGATGCACTGAGTCTGGGGG GGGGGGGTGTGGGGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0026 a0026	a0026c0029 a0026c0029	a0026c0029t0016 a0026c0029t0016	a0026c0029t0016g0031 a0026c0029t0016g0031	1	282	0.0036	881	c.299 others(896): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCCCCCAGACTCAGTGCATCCCCACGCCCCCCCCTCCCCCAGACTCAGT GCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACGCCCCGC CCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCA GTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACGCCCC CCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCTCCCCCCGACTCA GTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCC CGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACT CAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACAC CCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGA CTCAGTGCATCCCCACGCCCCCCCCTCCCCCAGACTCAGTGCATCCCCAC ACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCA GACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCC ACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCC CAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCC CCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCC CCCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGCAT CCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACGCCCCGCCCT C	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PIGR_chr1_206923522_206951466	206924611	T T	TGAGTGTG others(874): Show TGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTTCTCTGTC TAGTGTGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTGGTGTGTGTCCA TGAGTGTGTGTGTGCTCTGTAGAGTGTGTAAGTGTGTGGCGTGTGGCTAT GAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTG TGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGT GTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGCT CTGTCTAGTGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGT GATGTGTGTCCATGAGTGTGTGTGTGCTCCGTGGAGTGTGTGAATGTGTG GTGTGTGGCTATGAGTGTGTGTGAATGTGTGGTGTGTGGCTATGTGTGTG TGCTATGTGTTGTGTGTGGTATGTAGTTATGAGTGTGTGTCACTGCGTGG TGTGTGGCTATGAGTGTGTGTGTGCGCACTCTATGCTCTGTCTAGTGTGT GTGTGGTTGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTT CTCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGT GGTGTGTGTCCATGAGTGTGTGTGCTCTGTAGAGTGTGTGAGTGTGTGGC GTGTGGCTATGAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTG GCTATGAGTGTGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTAC GAGTGTGTGTGTGCTCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTG GTGTGCATCCATGAGTGTGTGTATGCTCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02015.hp2 HG02132.hp2 others(13): Show HG00621.hp1 HG02015.hp2 HG02132.hp2 HG02135.hp2 NA18942.hp1 NA18964.hp1 NA18965.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18983.hp2 NA18984.hp1 NA18995.hp1 NA19056.hp2 NA19070.hp1 NA19086.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0007 a0003c0005t0004 a0003c0005t0007	a0003c0005t0004g0007 a0003c0005t0007g0010 a0003c0005t0007g0102 a0003c0005t0004g0007 a0003c0005t0007g0010 a0003c0005t0007g0102	16	402	0.0398	881	c.57 others(892): Show c.5706_*5707insCACAGAGCATACACACACTCATGGATGCACACCA CACACATAACCACACACCACACACACTAGACAGAGCACACACACACTCGT AGCCACACACCACACACACACTCCACAGAGCACACACACACTCATAGCCA CACACCACACACACACTCCACAGTGCACACACACACTCATAGCCACACGC CACACACTCACACACTCTACAGAGCACACACACTCATGGACACACACCAC ACACACAATCACACACACATAACCACACACCACACACACTAGACAGAGAA CACACACACTCATAACTACACACCACACACTCACACACTCAACCACACAC ACACTAGACAGAGCATAGAGTGCGCACACACACACTCATAGCCACACACC ACGCAGTGACACACACTCATAACTACATACCACACACAACACATAGCACA CACACATAGCCACACACCACACATTCACACACACTCATAGCCACACACCA CACATTCACACACTCCACGGAGCACACACACACTCATGGACACACATCAC ACACACAATCACACACACATAACCACACACCACACACACACTAGACAGAG CACACACACTCATAGCCACACACCACACACACACTCCACAGAGCACACAC ACACACTCATAGCCACACACCACACACACACTCCACAGAGCACACACACA CTCATAGCCACACACCACACACACACTCCACAGTGCACACACACACTCAT AGCCACACGCCACACACTTACACACTCTACAGAGCACACACACACTCATG GACACACACCACACACACAATCACACACACATAACCACACACACACTAGA CAGAGAACACACACACTCATAACTACACACCACACACTCACACACTC	PIGR	ENSG00000162896.6	transcript	ENST00000356495.5	protein_coding		3910		chr1	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(874): Show GGAGGGGAAGGCGTGGGGAGGAGGGGAAGGCATGGGGAGGAGGGGGCCAC ATGGGGAGGAGCGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGG GGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGGG GAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGCC ACATGGGGAGGAGGCGCCGCGTGGGGAGGAGGGGGCCGTGGGGAGGAGGG GGCCGTGAGGAGAGGGGGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGG GAGGAGGGGGGCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCACCG TGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAG GGGGCCGCATGGGGAGGAGGGGGGCCGCGAGGGGAGGAGGGGGCCGTGTG GGGAGGAGAGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGC CGTGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGG AGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGA GGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCG CCGTGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAG GAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCG TGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGG GGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGG AGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	67	0.0149	881	c.159 others(898): Show c.1590+407_1590+408insGCGGCCCCCTCCTCCCCACGCGGCCCCC TCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGC GGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTC CCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGGCCC CCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCAC ACGGCGCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCT CCCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCC CCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCA CACGGCGCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCTCTCC TCCCCACACGGCCCCCTCCTCCCCTCGCGGCCCCCCTCCTCCCCATGCGG CCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCC CACACGGTGCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGCCCCCCT CCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCCCCCCCCTCTCCTCAC GGCCCCCTCCTCCCCACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCC ATGTGGCCCCCTCCTCCCCACGCGGCTCCCTCCTCCCCTCGCGGCCCCCT CCTCCCCAAGCCTTCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACA GCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCGCTCCTCC CCATGTGGCCCCCTCCTCCCCATGCCTTCCCCTCCTCCCCACGCCTTCCC CTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
ROBO2_chr3_77035099_77654964	77322971	T T	TTATATTA others(874): Show TTATATTATATTATGGATAATATAATATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATCTAATATATTATATTATATTATGGAT AATCTAATATATTATATTATATTATGGATAATATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATATTATATTATGGATAATATATTATATTATGGTTAATATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATAT ATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATAT TATATTATGGATAATATAATATATTATATTATGGATAATATAGTATATTA TGGATAATATAATATATTATATTATGGATAATATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATAATATATTATATAATATATT ATATTATGGATAATATAATATATTATATAATATATTATATTATGGATAAT ATAATATATTATATAATATATTATATTATGGATAATATAATATATTATAT TATATTATGGATAATATAATATATTATATTATATTATGGATAATATAATA TATTATATTATATTATGGATAATATAATATAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	160	0.0063	881	c.389 others(902): Show c.389-154406_389-154405insGGATAATATAATATATTATATTAT ATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATAT TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA TTATATTATGGATAATATATTATATTATGGTTAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATAATATATTATATTATGGAT AATATAATATATTATATTATGGATAATATAGTATATTATGGATAATATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATAATATATTATATAATATATTATATTATGGATA ATATAATATATTATATAATATATTATATTATGGATAATATAATATATTAT ATAATATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATATTATATTATATTATGGATAATATAATATATTATATTATA TTATGGATAATATAATATAATATATTATATTATGGATAATATAATATATT ATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPIRE2_chr16_89823475_89876319	89852527	C C	CTCACCCC others(874): Show CTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCC GCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCC GCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GCATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCTCAAGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG ATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GCATCCCATGGCCCGTCTTCCGTCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0334 a0001c0001t0003g0334	1	356	0.0028	881	c.646 others(898): Show c.646-1759_646-1758insTCACCCCCCGGATCCCATGATCCGTCTT CCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTT CCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCATCCTCCC TCTCACCCTCAAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCC TCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(874): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	322	0.0031	881	c.597 others(898): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTC CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTTCC TTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCT CCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCC CTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTC CCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCT CTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
THEG_chr19_356747_381026	377502	C C	CCCCACCC others(874): Show CCCCACCCAGCCTCTCCCCCTGTGTGCCCCACCCAGCCTCTCCCCCTGTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTGTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTC CCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCT CTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0286 a0002c0002t0001g0286	1	370	0.0027	881	c.-15 others(892): Show c.-1533_-1532insCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAG GCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGA GAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA CAGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1477		chr19	TogoVar
TMEM114_chr16_8564500_8595511	8564781	G G	GTGAATTA others(874): Show GTGAATTAGTGAGTGAATGAATGAGTGAGTGAGGCAATGAGTGAGTGAAT GAGTAAGTGAATGGTGAGTAGTGAATGTGTGAGTGGTGGAGGGAGGAAGT GTGAGTGATGGTAGTGTGAGTGTGTAGTGATTGAGGTGAGGGAGGAATGA GTAAGTGAATGAGTGGTGTGTGTGAGTGTGTGATTGTGTAGGTGAGTGAG TGATGAGTGGGTGGTGAGTGTGTGAGTGAGTGAGTGATGGTGTGAGTGTG GTGATGTGAGTGATTGTGAGTGAGTGAATGAGTGAGTTGTGATGGTGAGT GAGTGATGGTGAGTGAGTGATGAGTGAGTGAGTGATGTGGGGATGGTGTT GAGTGAGTGATGGTGTGGGTGAGGGTGGGTGGTGGATGGTGGTGAGTGGT GAGTGTGTGGTGGTGGAATGGTGTGAGTGAGGGAATGAGTAATGAGTGAT GTGAGTGTAAGTGAGTGAGTGTGTGATGGTGAGTGTTGGTGTGGATGGAG TGGGTGGGAATGAGTGAGTGATGAGTTTGTGAATGAGTATGAGTGATGTG AGTGAGTGGGATGAGTGAGTGAGTGGTGGTGGTGGTTGAGTGGTGTGTGA TTGGTGAGGAAGTTGTGTGAGTGAGTTAGTGAATGAGTGGTGGTGAGTGT GATGGTGATGAGTGAGTGGTGTTGATGAGTGAGTGAGTGAATGAGTGAGG AAATAGTGAGTGAGGAATGTGTGAGTGAGGATGTGTGATGTGTGTGTGGG ATGGTGTGAGTGATGAGTAGTGAGTGATGGTGTGGTGGTGGGTGAGTGAG TGGTGGTGGGATGGTGAGTGAGTGAATGAGTGAGTAAATGAGTGAGTGAC AGAGGGAGGGAATGAGTGAATGAGTCAGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	416	0.0024	881	c.49 others(892): Show c.4991_*4992insTTCCCTGACTCATTCACTCATTCCCTCCCTCTGT CACTCACTCATTTACTCACTCATTCACTCACTCACCATCCCACCACCACT CACTCACCCACCACCACACCATCACTCACTACTCATCACTCACACCATCC CACACACACATCACACATCCTCACTCACACATTCCTCACTCACTATTTCC TCACTCATTCACTCACTCACTCATCAACACCACTCACTCATCACCATCAC ACTCACCACCACTCATTCACTAACTCACTCACACAACTTCCTCACCAATC ACACACCACTCAACCACCACCACCACTCACTCACTCATCCCACTCACTCA CATCACTCATACTCATTCACAAACTCATCACTCACTCATTCCCACCCACT CCATCCACACCAACACTCACCATCACACACTCACTCACTTACACTCACAT CACTCATTACTCATTCCCTCACTCACACCATTCCACCACCACACACTCAC CACTCACCACCATCCACCACCCACCCTCACCCACACCATCACTCACTCAA CACCATCCCCACATCACTCACTCACTCATCACTCACTCACCATCACTCAC TCACCATCACAACTCACTCATTCACTCACTCACAATCACTCACATCACCA CACTCACACCATCACTCACTCACTCACACACTCACCACCCACTCATCACT CACTCACCTACACAATCACACACTCACACACACCACTCATTCACTTACTC ATTCCTCCCTCACCTCAATCACTACACACTCACACTACCATCACTCACAC TTCCTCCCTCCACCACTCACACATTCACTACTCACCATTCACTTACTCAT TCACTCACTCATTGCCTCACTCACTCATTCATTCACTCACTAATTCA	TMEM114	ENSG00000232258.7	transcript	ENST00000620492.5	protein_coding		4718		chr16	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCACCATC others(874): Show TCACCATCATCACCACCACCACCACCACCACTACCACTACCACCATCATA ATTACCACCACCATCACCACCACCACCACCACTATCACCATCATCACCAT CACCACCATCACCACCACCACTACCACTACCACCAACACAATCACCACCA CTATCACCATCATCACCACCACCACCACCACCACTAGCACAACCACAACA CTACCACATCACCACCACCACTACCACTACTACCATCACCATCACCACCA CCATCACCACCACCACCACAATACTACCACATCACCACCACCACCATCAT CATCACCACCACTACCACCACCACCACCACCACCACCACCACGACCACCA CAACACTACCACATCACCACCACCACGACCACCACTGCCACCACCACTAC CACCATCGCCACCATCACCACCACATCACCACCACCACCACCACTACTAC CACCACCACCACCATCACCACTACTACCATCACCACTACTACCACCACCA CCATCACCACTACTACCACCACCACCACCATCACCACCATCACCACCACC ACCACCACCATCACAATCACCACCACCATCACCACCACCACTACCACCAC CACCATCACCATCATCACCACCACCACCAACACTACTGCCACCACCACTA TTACCATCACCACCACTACTACCACCACCACTACCATAACCACCATCATC ACCATCACCATCATTACTGCTATTATGACCACCATCACTACCACCATTAT CACCACCACCACTAAACTACCACCACTACCTCACTGCCATCATCACCATC ACCATTACTAACATCACCATTACTAACATCACCATTATAATACTACCACC ATCACTACCACCACCACCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	360	0.0028	881	c.24 others(892): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGTGATGATGGTGATGGTGGT GGTGGTAGTGGTGGTGGTGATGGTGGTGGTGATTGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTAGTAGTGGTGATGGTG GTGGTGGTAGTAGTGGTGATGGTAGTAGTGGTGATGGTGGTGGTGGTGGT AGTAGTGGTGGTGGTGGTGGTGATGTGGTGGTGATGGTGGCGATGGTGGT AGTGGTGGTGGCAGTGGTGGTCGTGGTGGTGGTGATGTGGTAGTGTTGTG GTGGTCGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGATGAT GATGGTGGTGGTGGTGATGTGGTAGTATTGTGGTGGTGGTGGTGATGGTG GTGGTGATGGTGATGGTAGTAGTGGTAGTGGTGGTGGTGATGTGGTAGTG TTGTGGTTGTGCTAGTGGTGGTGGTGGTGGTGGTGATGATGGTGATAGTG GTGGTGATTGTGTTGGTGGTAGTGGTAGTGGTGGTGGTGATGGTGGTGAT GGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGATGGTGGTGGTAATTA TGATGGTGGTAGTGGTAGTGGTGGTGGTGGTGGTGGTGATGATGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		1988		chr6	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(874): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATA TAATAATATAATATATATTATTATATGTTATTATATATAATAATATAATA TATATTATTATATGTTATTATATATAATAATATATATTATTATATGTTAT TATATATAATAATATATATTATTATATGTTATTATATATAATAATATAAT ATATATTATTATATGTTATTATATATAATAACATATTATATATTATATGT TATTATATATAATAACATAATATATATTATATGTTATTATATATAATAAC ATAATATATATTATATGTTATTATATATAATAACATAATATATATTATTA TATGTTATTATATATAATAACATAATATATATTATTATATGTTATTATAT ATAATAACATAATATATATTATTATATGTTATTATATATAATAACATAAT ATATATTATTATATGTTATTATATATAATAATATAATATATATTATTATA TGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATAT AATAATATATATTATATTATTATATGTTATTATATATAATAATATAATAT ATATTATTATATGTTATTATATATAATAAATAATATATATTATTATATAT TATTTATTATATATAATATATATATAATTATATATATTATATATTATTAT ATATAATATATATATAATTATATATATTATATATATTATATATAATAATA ATATATATAATTATATATATTATATATAATAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0007 a0002c0003t0002g0007	1	238	0.0042	881	c.392 others(898): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATAATTATATATATATT ATATATAATAATATATAATATATATAATTATATATATATTATATATAATA AATAATATATAATAATATATATTATTTATTATATATAATAACATATAATA ATATATATTATATTATTATATATAATAACATATAATAATATAATATATAT TATTATATATAATAACATATAATAATATATATTATATTATTATATATAAT AACATATAATAATATATATTATATTATTATATATAATAACATATAATAAT ATATATTATGTTATTATATATAATAACATATAATAATATATATTATGTTA TTATATATAATAACATATAATAATATATATTATGTTATTATATATAATAA CATATAATAATATATATTATGTTATTATATATAATAACATATAATATATA TTATGTTATTATATATAATAACATATAATATATATTATGTTATTATATAT AATAACATATAATATATAATATGTTATTATATATAATAACATATAATAAT ATATATTATATTATTATATATAATAACATATAATAATATATATTATTATA TATAATAACATATAATAATATATATTATTATATATAATAACATATAATAA TATATATTATATTATTATATATAATAACATATAATAATATATATTATATT ATTATATATAATAACATATAATAATATATATTATATTATTATATATAATA ACATATAATAATATATATTATATTATTATATATAATAACATATAATAATA TATATTATATTATTATATATAATAACATATAATAATATATATTATATTAT TAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar

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Search Results (Total: 7053 hits)