Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NEXN_chr1_77883624_77948895	77887911	C C	CCTTCTTC others(676): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	268	0.0037	683	c.-90 others(692): Show c.-901_-900insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		712		chr1	TogoVar
NOTCH1_chr9_136489433_136551048	136528378	A A	ATGGGCAG others(676): Show ATGGGCAGGACAGTGGGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATG GCAGGGACGGTGAGGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACA GTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGG GATGGGCAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCA GGACAGTGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGG ATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACAGTGGGGGGGGATG GGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGA CAGTGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACAGT GGGGGGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGG GGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGGACGTGGGGGGTGGGCA GGGACAGTGGGGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGG ACAGTGAGGGGGGATGGGCAGGGACAGTGGGGGG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0073 a0001c0011t0002g0073	1	324	0.0031	683	c.141 others(700): Show c.141-4400_141-4399insCCCCCCACTGTCCCTGCCCATCCCCCCT CACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCCCCAC TGTCCCTGCCCACCCCCCACGTCCCCTGCCCACCCCCCACTGTCCCTGCC CATCCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATC CCCCCCACTGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCC CCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGTC CCTGCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCGCACTGTCCCT GCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATC CCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCA CTGTCCTGCCCACCCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTG TCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCCTCACCGT CCCTGCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCCCACTGTCCT GCCCA	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NUP93_chr16_56725129_56855286	56739406	A A	AACCTCCC others(676): Show AACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp2 HG03486.hp1 HG02145.hp2 HG02886.hp2 HG03486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0345 a0001c0007t0012g0346 a0001c0007t0012g0347 a0001c0007t0012g0345 a0001c0007t0012g0346 a0001c0007t0012g0347	3	378	0.0079	683	c.-14 others(700): Show c.-14-8753_-14-8752insGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(676): Show CCCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCA GATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCAC TGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACAGACCCGGCCC ACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACC TGGCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATAC GGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCC CAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCCCCCCGCCCA CTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCC CCACCCACTGCCCAGATACGGACCCCCCCCCCCACCCACTGCCCAGATAC GGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCCACCCACTG CCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCC CACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGAC CCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGA TACGGACCCGGCCCACCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	292	0.0034	683	c.471 others(698): Show c.471+314_471+315insCACCCACTGCCCAGATACGGACCCGGCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATAC AGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCC AGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCCCCCCGCCCAC TGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCC CACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACC CCCCCCGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGAT ACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCCACCCAC TGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCC CCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGG ACCCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCC CAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACC CACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCC CCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH15_chr10_53797771_54806231	54332298	A A	ATATTATT others(676): Show ATATTATTATATATAATATATATATAATCTATATTATATATTATTATATA TAATATATATATAATCTATATTATATATTATTATATATAATATAATATAA TATATATTATATATTATTATATATAATATAATATAATCTATATTATATAT TATTATATATAATATTATATAATCTATATTATATAATATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATCTATATTATA TATTATATATAATATAATATAATCTATATTATATATTATATATAATATAA TATAATCTATATTATATATTATATATAATATAATATAATCTATATTATAT ATTATATATAATATAATATAATCTATATTATATATTATATATAATATAAT ATAATCTATATTATATATTATATATAATATAATATAATCTATATTATATA TTATATATAATATAATATAATCTATATTATATTATATATAATATAATATA ATCTATATTATATATTATATATAATATAATATAATCTATATTATATATTA CTATATATAATATAATATAATCTATATTATATATTATTATATATAATATA ATATAATCTATATTATATATTATATATAATATAATATAATCTATATTATA TATTATTATATATAATATAATCTATATTATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0029 a0029	a0029c0035 a0029c0035	a0029c0035t0005 a0029c0035t0005	a0029c0035t0005g0100 a0029c0035t0005g0100	1	102	0.0098	683	c.595 others(700): Show c.595-2593_595-2592insATATATAATATAGATTATATTATATATA ATAATATATAATATAGATTATATTATATTATATATAATATATAATATAGA TTATATTATATTATATATAATAATATATAATATAGATTATATTATATTAT ATATAGTAATATATAATATAGATTATATTATATTATATATAATATATAAT ATAGATTATATTATATTATATATAATATAATATAGATTATATTATATTAT ATATAATATATAATATAGATTATATTATATTATATATAATATATAATATA GATTATATTATATTATATATAATATATAATATAGATTATATTATATTATA TATAATATATAATATAGATTATATTATATTATATATAATATATAATATAG ATTATATTATATTATATATAATATATAATATAGATTATATTATATTATAT ATAATATATAATATAGATTATATTATATATAATAATATATAATATAGATT ATATTATATTATATATAATATTATATAATATAGATTATATAATATTATAT ATAATAATATATAATATAGATTATATTATATTATATATAATAATATATAA TATATATTATATTATATTATATATAATAATATATAATATAGATTATATAT ATATTATATATAATAATATATAATATAGATTATATATATATTATATATAA TAATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332298	A A	ATATTATT others(676): Show ATATTATTATATATAATATATATATAATCTATATTATATATTATTATATA TAATATATATATAATCTATATTATATATTATTATATATAATATAATATAA TATATATTATATATTATTATATATAATATAATATAATCTATATTATATAT TATTATATATAATATTATATAATCTATATTATATAATATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATCTATATTATA TATTATATATAATATAATATAATCTATATTATATATTATATATAATATAA TATAATCTATATTATATATTATATATAATATAATATAATCTATATTATAT ATTATATATAATATAATATAATCTATATTATATATTATATATAATATAAT ATAATCTATATTATATATTATATATAATATAATATAATCTATATTATATA TTATATATAATATAATATAATCTATATTATATATTATATATAATATAATA TAATCTATATTATATATTACTATATATAATATAATATAATCTATATTATA TATTATTATATATAATATAATATAATCTATATTATATATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATCTATATTATA TATTATTATATATAATATAATCTATATTATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0048 a0004c0004t0001g0048	1	94	0.0106	683	c.595 others(700): Show c.595-2593_595-2592insATATATAATATAGATTATATTATATATA ATAATATATAATATAGATTATATTATATATAATAATATATAATATAGATT ATATTATATTATATATAATATATAATATAGATTATATTATATTATATATA ATAATATATAATATAGATTATATTATATTATATATAGTAATATATAATAT AGATTATATTATATTATATATAATATATAATATAGATTATATTATATTAT ATATAATATATAATATAGATTATATTATATTATATATAATATATAATATA GATTATATTATATTATATATAATATATAATATAGATTATATTATATTATA TATAATATATAATATAGATTATATTATATTATATATAATATATAATATAG ATTATATTATATTATATATAATATATAATATAGATTATATTATATTATAT ATAATATATAATATAGATTATATTATATATAATAATATATAATATAGATT ATATTATATTATATATAATATTATATAATATAGATTATATAATATTATAT ATAATAATATATAATATAGATTATATTATATTATATATAATAATATATAA TATATATTATATTATATTATATATAATAATATATAATATAGATTATATAT ATATTATATATAATAATATATAATATAGATTATATATATATTATATATAA TAATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332298	A A	ATATTATT others(676): Show ATATTATTATATATAATATATATATAATCTATATTATATATTATTATATA TAATATATATATAATCTATATTATATATTATTATATATAATATAATATAA TATATATTATATATTATTATATATAATATAATATAATCTATATTATATAT TATTATATATAATATTATATAATCTATATTATATAATATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATCTATATTATA TATTATATATAATATAATATAATCTATATTATATATTATATATAATATAA TATAATCTATATTATATATTATATATAATATAATATAATCTATATTATAT ATTATATATAATATAATATAATCTATATTATATATTATATATAATATAAT ATAATCTATATTATATATTATATATAATATAATATAATCTATATTATATA TTATATATAATATAATATAATCTATATTATATTATATATAATATAATATA ATCTATATTATATATTATATATAATATAATATAATCTATATTATATATTA CTATATATAATATAATATAATCTATATTATATATTATTATATATAATATA ATATAATCTATATTATATATTATATATAATATAATATAATCTATATTATA TATTATTATATATAATATAATCTATATTATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0024 a0024	a0024c0040 a0024c0040	a0024c0040t0001 a0024c0040t0001	a0024c0040t0001g0092 a0024c0040t0001g0092	1	94	0.0106	683	c.595 others(700): Show c.595-2593_595-2592insATATATAATATAGATTATATTATATATA ATAATATATAATATAGATTATATTATATTATATATAATATATAATATAGA TTATATTATATTATATATAATAATATATAATATAGATTATATTATATTAT ATATAGTAATATATAATATAGATTATATTATATTATATATAATATATAAT ATAGATTATATTATATTATATATAATATAATATAGATTATATTATATTAT ATATAATATATAATATAGATTATATTATATTATATATAATATATAATATA GATTATATTATATTATATATAATATATAATATAGATTATATTATATTATA TATAATATATAATATAGATTATATTATATTATATATAATATATAATATAG ATTATATTATATTATATATAATATATAATATAGATTATATTATATTATAT ATAATATATAATATAGATTATATTATATATAATAATATATAATATAGATT ATATTATATTATATATAATATTATATAATATAGATTATATAATATTATAT ATAATAATATATAATATAGATTATATTATATTATATATAATAATATATAA TATATATTATATTATATTATATATAATAATATATAATATAGATTATATAT ATATTATATATAATAATATATAATATAGATTATATATATATTATATATAA TAATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(676): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCC CATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTC CTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCA CCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCC CCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCC TGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCAC CCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCC CCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTAC CTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	360	0.0028	683	c.35 others(694): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTA CCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCT CTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCC CTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCC CCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCC TTCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTT CACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCC CACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCT CCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(676): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCC TCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCCTCCACGCCCCCTCA CCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCC CCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCC TGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCAC CCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCC CCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTAC CTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	360	0.0028	683	c.35 others(694): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTC TCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCC CTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCC CCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCC TTCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTT CACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCC CACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCT CCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
PERM1_chr1_970198_987093	977727	G G	GCAACCCC others(676): Show GCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCT GCCCCCACCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCG GGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCACGACC CCCAATCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGA ACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACCACCCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0002 a0020c0023t0002	a0020c0023t0002g0052 a0020c0023t0002g0052	1	408	0.0025	683	c.215 others(702): Show c.2150-1104_2150-1103insGGGGTGGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGT GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGG GAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGTGGTGGGAGGCGGTTCCCG GGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGG GAGGCGGTTCCCGGGGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGGTTG CGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGG GAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCG GGATTGGGGGTCGTGGGAGGCGGTTCTCGGGGTTGGCGGGGTGGTGGGAG GCGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGGTCG GTGGGGGCAGGCGGTTCCCGGGGTTGCGGGGGGAGCGGGAGGCGGTTCCC GGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(676): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGGTGTG GGGATGCACTGAGTCTGGGGGGGGGGGGTGTGGGGATGCACTGAGTCTGG GGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGCGTGG GGATGCACTGAGTCGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTG GGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGCGTG GGGATGCACTGAGTCTGGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTC TGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGG TGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGGTGTGGGGATGCACTG AGTCTGGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGG GGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGC ACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGA GGGGGGGGTGTGGGGATGCACTGAGTCGGGGGGAGGGGGGTGTGGGGATG CACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGG GAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0002 a0003c0017t0002	a0003c0017t0002g0120 a0003c0017t0002g0120	1	282	0.0036	683	c.299 others(698): Show c.2992-13_2992-12insCCCCAGACTCAGTGCATCCCCACACCCCGC CCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCCAGACTC AGTGCATCCCCACACCCCCCTCCCCCCGACTCAGTGCATCCCCACACCCC CCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACT CAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACAC CCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCCA GACTCAGTGCATCCCCACACCCCCCCCTCCCCCCAGACTCAGTGCATCCC CACACCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCC CCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCCAGACTCAGTGCA TCCCCACGCCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCC TCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCCGACTCAGTGC ATCCCCACGCCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCC CTCCCCAGACTCAGTGCATCCCCACACCCCCCCCCCCCAGACTCAGTGCA TCCCCACACCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACGCCCCGCC CTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PLEKHN1_chr1_961482_980865	977727	G G	GCAACCCC others(676): Show GCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCT GCCCCCACCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCG GGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCACGACC CCCAATCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGA ACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0019 a0001c0011t0019	a0001c0011t0019g0163 a0001c0011t0019g0163	1	422	0.0024	683	c.31 others(694): Show c.3152_*3153insCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAA CCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTGCCCC CACCGACCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAA CCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACC CCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1863		chr1	TogoVar
PWWP2B_chr10_132392200_132422859	132419651	G G	GGGGGGCC others(676): Show GGGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGTC TCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGAGG AGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGG CCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGG GGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGT CTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGA GGAGGGGTCTCCTGGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGG GCCTGGAGGAGGGGTCTCCTGGGGGGGGCCTGGAGGAGGGGTCTCCTGGG GGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGT CTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGAG GAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGG CCTGGAGGAGGGGTCTCCTGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGG GGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTC CTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01169.hp2 others(1): Show HG00738.hp2 HG01167.hp1 HG01169.hp2 HG01258.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0027 a0003c0008t0001g0061 a0003c0008t0001g0027 a0003c0008t0001g0061	4	374	0.0107	683	c.26 others(694): Show c.2607_*2608insGGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGG CCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGG GGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGT CTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGA GGAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGG GCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTG GGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGGCCTGGAGGAGGG GTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGCCTGGAG GAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGG GCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGG GGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGT CTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGCCTGGAGG AGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCC TGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		1793		chr10	TogoVar
RABL6_chr9_136802948_136846187	136803147	T T	TGGGGCCC others(676): Show TGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGTGAGCTCAGGGCCCAGGGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0031 a0001c0024t0001g0031	1	330	0.0030	683	c.-50 others(694): Show c.-5050_-5049insGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC TGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGTGAGCTCAGGGCCCAGGGCCG	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4800		chr9	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(676): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATA TATTTAGTTTATAAGTACATATTTATATATTTAGTTTATAAGTACATATT TATATATTTAATTTATAAGTATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATT TATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	308	0.0033	683	c.-75 others(702): Show c.-758+6737_-758+6738insCTATAAATTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATACTTATAAATTA AATATATAAATATGTACTTATAAACTAAATATATAAATATGTACTTATAA ACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATATGTATTT ATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGT ATTTATAAACTAAATAAATATGTATTTATAAACTAAATATGTAAATATGT ATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACT AAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATA AACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATT TATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATA TATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(676): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATACATATTTATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATA TATTTAGTTTATAAGTACATATTTATATATTTAGTTTATAAGTACATATT TATATATTTAATTTATAAGTATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATT TATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18970.hp1 NA18971.hp1 others(1): Show HG02129.hp2 NA18970.hp1 NA18971.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0245 a0001c0001t0003g0274 a0001c0001t0003g0276 others(1): Show a0001c0001t0003g0245 a0001c0001t0003g0274 a0001c0001t0003g0276 a0001c0001t0011g0279	4	308	0.0130	683	c.-75 others(702): Show c.-758+6737_-758+6738insCTATAAATTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATACTTATAAATTA AATATATAAATATGTACTTATAAACTAAATATATAAATATGTACTTATAA ACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATATGTATTT ATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGT ATTTATAAACTAAATAAATATGTATTTATAAACTAAATATGTAAATATAT ATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACT AAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATA AACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATT TATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATA TATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	305014	G G	GGGGGACA others(676): Show GGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGGACAGGGCGGGAGGGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCAAGAGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGA GAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGGGCGAGAG GGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGA CAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACA GGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGGG CGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGACAGGGCGA GAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	133	0.0075	683	c.351 others(702): Show c.351+14405_351+14406insTCCCGCCCTGTCCCCCTCTCGCCCTG TCCCCCTCTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCC CCCTCTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTC TCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCC CTGTCCCCCTCTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTG TCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCC CTCTTGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCC CGCCCTGTCCCCCCTCCCGCCCTGTCCCCCCTCCCGCCCTGTCCCCCTCC CGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGC CCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(676): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC TCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	158	0.0063	683	c.22+ others(700): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCC CTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCT CCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC6A3_chr5_1387794_1450440	1414399	G G	GGGGGGCC others(676): Show GGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGA GGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC AGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC TGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGG GCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGG CCTGGAGGGGCAGGGTGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0148 a0001c0003t0001g0148	1	373	0.0027	683	c.115 others(700): Show c.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGCCCCTC CCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC CCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCACCCTGCCCC TCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCC ACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT CCCCGCCCTGACCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCC CCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCC CCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCC TTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG CCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGG CCCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SMYD3_chr1_245744347_246512279	246071871	G G	GCTGTGCT others(676): Show GCTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGT GCTTTCCGCTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGA TTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGG GGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCTGTTA GTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTT CCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACCGTG GATGCATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTC ACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCAC TGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGC TTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATT CGTGTGCTTTCCACTGTGCTCACTGTGGATGCATCGTGTTAGTTCTGGGG AGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTGCATCGTGTTAGT TCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTGCATCG TGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0134 a0002c0007t0004g0134	1	150	0.0067	683	c.532 others(704): Show c.532-141935_532-141934insTGGAAAGCACACGAATCCCTCCCC AGAACTAACACGATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAATC CCTCCCCAGAACTAACACGATGCAGCGACAGTGAGCACAGTGGAAAGCAC ACGAATCCCTCCCCAGAACTAACACGATGCATCCACAGTGAGCACAGTGG AAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGC ACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCAC AGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAG CATCCACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCCAGAACTAC ACGATGCATCCACGGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAG AACTAACAGGAAGCATCCACAGTGAGCACAGCGGAAAGCACACGAATCCC TCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGCGGAAAGCACAC GAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGCGGAA AGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCAC AGCGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAG TGAGCACAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
TCF3_chr19_1604292_1657615	1629082	C C	CGGGAAGG others(676): Show CGGGAAGGGGACAGTAGAGCTCGCAGGGGGTGAGGCGGAAAGGGGACAGC AGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAG CAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGT GAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGA CAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGG GGGTGGAGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACAGGGGGTGGAGCGTGAAGGGGACAGCAGAGCTCAC AGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGAGCGTGA AGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGG AAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGC GGGAAGGGGACAGCAGAGCTCATGGGGATGGGGT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0069 a0002c0001t0069	a0002c0001t0069g0082 a0002c0001t0069g0082	1	352	0.0028	683	c.299 others(700): Show c.299-1657_299-1656insACCCCATCCCCATGAGCTCTGCTGTCCC CTTCCCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCC CGTGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTGAGCTCTGCTGT CCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGCTG TCCCCTTCACGCTCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCCTGTGAGCTCTGCTGTCCCCTTCACGCTCCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCT CCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCT CTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTTCC CGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGA GCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTC CCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTG AGTTCTGCTGTCCCCTTTCCGCCTCACCCCCTGCGAGCTCTACTGTCCCC TTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1272907	G G	GACCGCCA others(676): Show GACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACAA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACATCAGACCCCACAACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACATCAGACCCCCACAACCGCCATCCACAGTCACCA CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCACATCAGACCCCCACA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	392	0.0026	683	c.228 others(700): Show c.2287-628_2287-627insTGTGGGGGTCTGATGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTTGTGGGGTCTGATGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGA TGGCGGTTGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATG GCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273640	G G	GACCGCCA others(676): Show GACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACA GTCACCACACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCAC CACACATCAGACCCTACGACCGCCATCCACAGTCACCACACATCAGACCC CACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCAC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	392	0.0026	683	c.228 others(702): Show c.2287-1361_2287-1360insTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGAC TGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCT GATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGT GTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THNSL2_chr2_88165346_88191627	88181113	T T	TCTCTCTC others(676): Show TCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCT CTCTCCTCCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCCTCTCCTCTCTCCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTC CTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTC TCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCT CTCTCTCCTCTCTCTCGTCCTCCTCCTCTCTCCTCTCTCTCCTCTCTCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCTCTCTCCTCCTCTCTCTCTCCTCTCTC TCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0030 a0001c0001t0010g0030	1	54	0.0185	683	c.803 others(700): Show c.803-1579_803-1578insCTCTCTCTCCTCTCTCTCTCCTCTCTCC TCTCTCTCCTCTCTCTCTCCTCCTCTCTCCTCTCTCCTCTCTCTCCTCTC TCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTC CTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCTCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTC TTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTC TCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCGTCCTCCTCCTCTCTCCTCT CTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTC TCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCCTCCTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCT CTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD4_chr15_71110471_71788383	71199705	T T	TGGGTGTG others(676): Show TGGGTGTGTGGTGTGTGTGTGTAGTGTGTGTGTAGTGTGTGTGGGTGTGT GTGATGTGTGTGGTGTGTGTGGTGTGTGGGTGTGTGCTGTGTGTGTGCTG TGTGTGTGCTGTGTGTGTGTGATGCACGTGTGGGGTGTGTGTGTGTGTGC TGTGTGTGATGCATGTGTGGGGTGTGTGTGTGTGTGTGGGGTGTGTGTGG GGTGTGTGGTGTGTGTATGTGTGGTGTGTGTATGTGGTGTGTGTGTAGTG TGTGTGTGTGGGTGTGTGTGATGTATGGTGTGTGTGGTGTGTGGGTGTGT GGTGTGTGTGGTGTGTGTGTGGTGTGTGTGTGTGATGCATGTGTGGAGGG TGTGTGTGTGTGGTGTGTGTGTGGTGCATGTGTGGTATGTGTGTGTGATG CATGTGTGTGTGGTGTGTGTGGGTGTGTGTGATGTGTGGTGTGTGTGTGG TGTGTGTGGTGTCTGGGTGTGTGGTGTGTGTGTGTAGTGTGTGTGTAGTG TGTGTGGGTGTGTGTGATGTGTGTGGTGTGTGTGGTGTGTGGGTGTGTGC TGTGTGTGTGCTGTGTGTGTGCTGTGTGTGTGTGATGCACGTGTGGGGTG TGTGTGTGTGTGCTGTGTGTGATGCATGTGTGGGGTGTGTGTGTGTGTGG TGCATGTGTGGTATGTGTGTGTGGTGCATGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0108 a0001c0003t0003g0108	1	116	0.0086	683	c.100 others(702): Show c.100-15223_100-15222insCTGTGTGTGTGTGATGCACGTGTGGG GTGTGTGTGTGTGTGCTGTGTGTGATGCATGTGTGGGGTGTGTGTGTGTG TGTGGGGTGTGTGTGGGGTGTGTGGTGTGTGTATGTGTGGTGTGTGTATG TGGTGTGTGTGTAGTGTGTGTGTGTGGGTGTGTGTGATGTATGGTGTGTG TGGTGTGTGGGTGTGTGGTGTGTGTGGTGTGTGTGTGGTGTGTGTGTGTG ATGCATGTGTGGAGGGTGTGTGTGTGTGGTGTGTGTGTGGTGCATGTGTG GTATGTGTGTGTGATGCATGTGTGTGTGGTGTGTGTGGGTGTGTGTGATG TGTGGTGTGTGTGTGGTGTGTGTGGTGTCTGGGTGTGTGGTGTGTGTGTG TAGTGTGTGTGTAGTGTGTGTGGGTGTGTGTGATGTGTGTGGTGTGTGTG GTGTGTGGGTGTGTGCTGTGTGTGTGCTGTGTGTGTGCTGTGTGTGTGTG ATGCACGTGTGGGGTGTGTGTGTGTGTGCTGTGTGTGATGCATGTGTGGG GTGTGTGTGTGTGTGGTGCATGTGTGGTATGTGTGTGTGGTGCATGTGTG GGGTGTGTGGTGTGTGTGTGTAGTGTGTGTGTAGTGTGTGTGGGTGTGTG TGATGTGTGTGGTGTGTGTGGTGTGTGGGTGTGTGCTGTGTGTGTGCTGT GTGTGTG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(676): Show GTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGT CTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCT CTGTCTCTTTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCCTCTCTCTC TCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTC TTTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTT TCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTC TCTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTC TCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTC TCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	256	0.0039	683	c.924 others(700): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGA GAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAAAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAGGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAG AGACAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGACAGAGAGAGAGAG AGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAC AGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAG AGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAG AGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAG AGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAG AGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAG AGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM255B_chr13_113754226_113821995	113817328	C C	CGGGACAC others(676): Show CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACG GGACACATCCCTCCTCCCCCCCACGGGACACATACCCCCTCCCTCCAGGG GACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCCTCCCCCCACGGG ACACATCCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCCCACGGG ACACATCCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCTCCTCGGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCCTCCCCCCACGGGACA CATCCCCCCTCCCCCCACGGGGACACATACCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACAT CCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATAC CCCCTCCCTCCAGGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCC CCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCTCCAGGGGACACATCCCCCCTCCCTCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0219 a0001c0002t0052g0219	1	260	0.0039	683	c.54 others(694): Show c.5425_*5426insGGGACACATCCCCCCTCCCCCCACGGGACACATA CCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCCACGGGACACATAC CCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCC CCCTCCCCCCACGGGACACATCCCCCCCTCCCTCCAGGGGACACATCCCC CCTCCCTCCAGGGGACACATCCCCCCCTCCCTCCTCGGGACACATCCCCC CTCCCCCCCCACGGGACACATCCCCCCCTCCCCCCACGGGACACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCC TCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCC CTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCC CCACGGGACACATACCCCCTCCCTCCAGGGGGACACATCCCCCCTCCCTC CTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCA CGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAT	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		334		chr13	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(676): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCCTCCCCCCTTCCCCCTCTCCTA CCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCC TCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCCTATCCCCTCT CCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCT CCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCCTCCCCTCCCCTC CCCTTCCCCTCCCCCCCTCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCC CCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	1	114	0.0088	683	c.-25 others(702): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCCTCCCCCCTTCCCCCTCTCCTAC CCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCT CCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCCTATCCCCTCTC CCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCCTCCCCTCCCCTCC CCTTCCCCTCCCCCCCTCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCTTCTCCCCTCCCCTCTCC CCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRAF6_chr11_36478769_36515272	36507129	C C	CATACGTA others(676): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAA TGTATAATGTATATATACATGTATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATAATGTATATATACATT ATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGT ATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATACA TTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAAT GTATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18978.hp1 NA19084.hp2 NA18970.hp1 NA18978.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0104 a0001c0001t0002g0021 a0001c0001t0001g0104 a0001c0001t0002g0021	3	388	0.0077	683	c.-23 others(700): Show c.-23+2918_-23+2919insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTATACATTTACGTATGTATAAT GTATATATACATTATACATTTACGTATGTATAATACATGTATATATACAT TATACATTTACGTATGTATAATACATGTATATATACATATATACATTTAC GTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAAT ACATGTATATATACATATATACATTTACGTATGTATAATACATGTATATA TACATATATACATTTACGTATGTATAATACATGTATATATACATATATAC ATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATG TATAATACATGTATATATACATATATACATTTACGTATGTATAATACATG TATATATACATATATACATTTACGTATGTATAATACATGTATATATACAT ATATACATTTACGTATGTATAATACATGTATATATACATATATACATTTA CGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507168	C C	CATACGTA others(676): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAA TGTATAATGTATATATACATGTATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATAATGTATATATACATT ATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGT ATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATACA TTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAAT GTATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp1 HG01192.hp1 others(11): Show HG00621.hp2 HG01074.hp1 HG01192.hp1 HG01255.hp1 HG01975.hp1 HG01978.hp2 HG02300.hp1 HG02809.hp2 NA18962.hp1 NA18983.hp2 NA19001.hp2 NA19003.hp2 NA19065.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0035 a0001c0001t0041	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0147 others(10): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0172 a0001c0001t0001g0214 a0001c0001t0002g0023 a0001c0001t0002g0111 a0001c0001t0002g0119 a0001c0001t0015g0089 a0001c0001t0035g0213 a0001c0001t0041g0103	14	388	0.0361	683	c.-23 others(700): Show c.-23+2879_-23+2880insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTATACATTTACGTATGTATAAT GTATATATACATTATACATTTACGTATGTATAATACATGTATATATACAT TATACATTTACGTATGTATAATACATGTATATATACATATATACATTTAC GTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAAT ACATGTATATATACATATATACATTTACGTATGTATAATACATGTATATA TACATATATACATTTACGTATGTATAATACATGTATATATACATATATAC ATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATG TATAATACATGTATATATACATATATACATTTACGTATGTATAATACATG TATATATACATATATACATTTACGTATGTATAATACATGTATATATACAT ATATACATTTACGTATGTATAATACATGTATATATACATATATACATTTA CGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(676): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATA TATTTAGTTTATAAGTACATATTTATATATTTAGTTTATAAGTACATATT TATATATTTAATTTATAAGTATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATT TATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	250	0.0040	683	c.82+ others(698): Show c.82+5644_82+5645insTATATATTTACATATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATA TTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTA CATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATA TTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTATATATTTAGTTTATAAGTACATATTTATATATTTAGTT TATAAGTACATATTTATATATTTAATTTATAAGTATATATTTATATATTT AATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATAT TTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTATAGAT AAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(676): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATACATATTTATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATA TATTTAGTTTATAAGTACATATTTATATATTTAGTTTATAAGTACATATT TATATATTTAATTTATAAGTATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATT TATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0201 a0001c0001t0017g0201	1	250	0.0040	683	c.82+ others(698): Show c.82+5644_82+5645insTATATATTTACATATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATA TTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTA CATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATA TTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATA CATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTATATATTTAGTTTATAAGTACATATTTATATATTTAGTT TATAAGTACATATTTATATATTTAATTTATAAGTATATATTTATATATTT AATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATAT TTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTATAGAT AAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS8_chr3_184807166_185057604	184895629	C C	CCCCCTCC others(676): Show CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCC TCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCC TCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	274	0.0037	683	c.200 others(700): Show c.2004+708_2004+709insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CTCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCT CCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCC TCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
WDR7_chr18_56646359_57034792	57024865	T T	TATCCCTA others(676): Show TATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGT CCCTTATAGAATTTCACAAATCCCTATTCTCAGACAGGAATAGGGATATG TGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCA GACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTT CACAAATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGT TATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAATAGGG ATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTA TTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATA GAATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAACTAT GATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGA ATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACAAAT CCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCC TTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGA CTATGATAGTTATGTCCCTTATAGAATTTCACAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0093 a0001c0003t0008g0093	1	144	0.0069	683	c.427 others(702): Show c.4270-2125_4270-2124insACAGGAATAGGGATATGTGACTATGA TAGTTATGTCCCTTATAGAATTTCACAAATCCCTATTCTCAGACAGGAAT AGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCC CTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTT ATAGAATTTCACAAATCCCTATTCTCAGACAGGAATAGGGATATGTGAGC TATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCA GGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCAC ATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATG TCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATAT GTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCT CAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAAT TTCACAAATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAG TTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGG GATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACAAATCCCTA TTCTCAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(676): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGG GAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGG GAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGC AGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGA AGGGGAGGGAGGGGTGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGCGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGG GGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGAGGGAAGTGAGGGGAGG GAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGA GGGAGGGAAGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAG GGAGGGAGGGAAGGGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTG GGATGAAGGAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0008 a0006c0011t0008	a0006c0011t0008g0283 a0006c0011t0008g0283	1	290	0.0035	683	c.205 others(702): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTTCCCTCCCTCCC CTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCGCT CCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCACCCCTC CCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCTC CCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCC CTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCC CTTCCCTCCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTT CCCTCCCTCCCCTCCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCC CTCCCTTCCCTTCCCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCC TCCCTCCTTCCTCTCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTT CCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(676): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGAAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGG GAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGG GAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGG GAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGA GGGAGGGAAGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAG GGAGGGAGGGAAGGGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTG GGATGAAGGAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(31): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG01081.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01891.hp2 HG01981.hp1 HG02027.hp1 HG02145.hp2 HG02155.hp2 HG02280.hp2 HG02717.hp2 HG02738.hp2 HG02886.hp1 HG02922.hp1 HG03225.hp1 HG03486.hp1 HG03834.hp1 HG03927.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18963.hp1 NA18984.hp1 NA19000.hp2 NA19043.hp1 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0046 a0002c0003 a0002c0006 a0002c0012 a0002c0017 a0002c0038	a0001c0001t0003 a0001c0002t0003 a0001c0004t0002 others(8): Show a0001c0001t0003 a0001c0002t0003 a0001c0004t0002 a0001c0046t0006 a0002c0003t0001 a0002c0003t0003 a0002c0003t0015 a0002c0006t0003 a0002c0012t0003 a0002c0017t0003 a0002c0038t0002	a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0013 others(31): Show a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0075 a0001c0001t0003g0084 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0157 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0268 a0001c0001t0003g0271 a0001c0002t0003g0065 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0004t0002g0019 a0001c0004t0002g0112 a0001c0004t0002g0171 a0001c0046t0006g0289 a0002c0003t0001g0046 a0002c0003t0003g0031 a0002c0003t0003g0034 a0002c0003t0003g0098 a0002c0003t0003g0143 a0002c0003t0003g0161 a0002c0003t0015g0281 a0002c0006t0003g0101 a0002c0006t0003g0136 a0002c0006t0003g0150 a0002c0006t0003g0235 a0002c0012t0003g0130 a0002c0012t0003g0151 a0002c0017t0003g0250 a0002c0038t0002g0225	34	290	0.1172	683	c.205 others(702): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCC CTCCCCTCCCTGCCTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCT CCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTG CCTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCC CTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCC CCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTTCCCTTCCCTCCCTC CCCTCCCTCCCCTCCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCC CTCCCTTCCCTTCCCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCC TCCCTCCTTCCTCTCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTT CCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(676): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGGAGGGAAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGG GAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGA GGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGA GGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGG GGAGCGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAAGGGGAGG GAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGG GAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGA GGGAGGGAAGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAG GGAGGGAGGGAAGGGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTG GGATGAAGGAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0013 a0013	a0013c0040 a0013c0040	a0013c0040t0002 a0013c0040t0002	a0013c0040t0002g0020 a0013c0040t0002g0020	1	290	0.0035	683	c.205 others(702): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCC CTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCT CCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCCTCCCT CCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTCCCTC CCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCC CCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCTC CCCTCCCTCCCCTCCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCC CTCCCTTCCCTTCCCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCC TCCCTCCTTCCTCTCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTT CCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(676): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC GTATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACATGTATATATACG TATATATACACATATATACATGTATATATACGTGTATATATACACATATA TACGTGTATATATACGTATATATACACATATACACGTGTATATATATACG TATATATACACATATATACGTATATATATACGTATATATACATGTATATA TACGTACGTATATATACATGTATATATACGTATATATATACGTATATATG TGTATATATACGTATATATATACACGTATATATACACATATATACATGTA TATATATACGTATATATACACATATATACATGTATATATATACGTATATA TACATATATACGTATATATATACGTATATATACATATATACATGTATATA TATATACGTATATATACATATATACATGTATATATATATACGTATATATA CATATATACATGTATATATATATACGTATATACACATATATATACATGTA TATATATGTGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02145.hp2 HG02280.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0005c0006t0002 a0001c0001t0002 a0005c0006t0002	a0001c0001t0002g0215 a0005c0006t0002g0219 a0001c0001t0002g0215 a0005c0006t0002g0219	2	383	0.0052	683	c.-42 others(694): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACGTATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACATGTATATATACGTATATATACACATATATACATGTATATATACGTGT ATATATACACATATATACGTGTATATATACGTATATATACACATATACAC GTGTATATATATACGTATATATACACATATATACGTATATATATACGTAT ATATACATGTATATATACGTACGTATATATACATGTATATATACGTATAT ATATACGTATATATGTGTATATATACGTATATATATACACGTATATATAC ACATATATACATGTATATATATACGTATATATACACATATATACATGTAT ATATATACGTATATATACATATATACGTATATATATACGTATATATACAT ATATACATGTATATATATATACGTATATATACATATATACATGTATATAT ATATACGTATATATACATATATACATGTATATATATATACGTATATACAC ATATATATACATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(676): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC GTATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACATGTATATATACG TATATATACACATATATACATGTATATATACGTGTATATATACACATATA TACGTGTATATATACGTATATATACACATATATACGTGTATATATATACG TATATATACACATATATACGTATATATATACGTATATATACATGTATATA TACGTACGTATATATACATGTATATATACGTATATATATACGTATATATG TGTATATATACGTATATATATACACGTATATATACACATATATACATGTA TATATATACGTATATATACACATATATACATGTATATATATACGTATATA TACATATATACGTATATATATACGTATATATACATATATACATGTATATA TATATACGTATATATACATATATACATGTATATATATATACGTATATATA CATATATACATGTATATATATATACGTATATACACATATATATACATGTA TATATATGTGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	383	0.0026	683	c.-42 others(694): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACGTATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACATGTATATATACGTATATATACACATATATACATGTATATATACGTGT ATATATACACATATATACGTGTATATATACGTATATATACACATATATAC GTGTATATATATACGTATATATACACATATATACGTATATATATACGTAT ATATACATGTATATATACGTACGTATATATACATGTATATATACGTATAT ATATACGTATATATGTGTATATATACGTATATATATACACGTATATATAC ACATATATACATGTATATATATACGTATATATACACATATATACATGTAT ATATATACGTATATATACATATATACGTATATATATACGTATATATACAT ATATACATGTATATATATATACGTATATATACATATATACATGTATATAT ATATACGTATATATACATATATACATGTATATATATATACGTATATACAC ATATATATACATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAC others(677): Show ACACCCACACACCCATACACACACACACCAGACCCCCACACCCCCACACC CATACACACACACCCACCCACCCACACCCACACCCACCACACACACCCAC ACCCCCACACACACCCTCCCACCCCCACACACACATACCCCCACCACACA CCCACACACCCCCTCACACACACACCCACACACCCATACACACACCCACC ACACACCCATACATACACACCCCCACACCCCCTCACACCCTCCCCCCACT CACCCATACACAACCCCCACCACACCCCCACACCCATACACACACACACC CCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCCTCCCCC CACACACCCATACACACACCCCCACCACACCCCCACACCCATACACACAC ACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCCT CCCCCCCCACACACCCATACACACACCCCCACACCCCCACCACACCCATA CACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCTATCCCCAC CACACACCCATACACACACACCCACACACACACCACACCCATACACACAC ATACCCCCACACCCCCACACACACCCTCCCTCACACACACCCCCCACCAC ACACCCATACACACCCCAACCCCCCCACACACACC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0022 a0001c0022t0022	a0001c0022t0022g0161 a0001c0022t0022g0161	1	248	0.0040	684	c.387 others(703): Show c.3871-3767_3871-3766insGGTGTGTGTGGGGGGGTTGGGGTGTG TATGGGTGTGTGGTGGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTG TGGGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTAT GGGTGTGTGGTGGGGATAGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGG GTGTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTG TGGGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGG TGGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTAT GGGTGTGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGG TGTGGTGGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGT GTATGGGTGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTA TGGGTGTGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGG GTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGGGGGTGGGAGGGTGTG TGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGGGTGGGTGGGTGT GTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTGTGTGTGTATGGGTG TGTGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ACER1_chr19_6301142_6338612	6318734	T T	TGAGATCG others(677): Show TGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATC TCAAAATAAATAAATAAATAAATAAAATGTTCATGCCTCCTGTAAATAAA ATCTAAACTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTCTCTCT GTTCCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGTGCCCGCCGCCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCAGCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGTGAGAGCCA CCGCGCCCGGCCAAAATCTAAACTCTTAAACTTGCCTTATAAAATTATTC CTGGCCGGGCGTCGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGTT GACGCAGGCGGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAACAC GGTGAAACGCCGTCTCTACTAAAAAATACAAAAAAAATTAGCCGGGCATG GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAATCCGGGAGGCGGAGGTTGCAGTGAGCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00544.hp2 others(32): Show HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00733.hp2 HG01109.hp2 HG01361.hp2 HG01884.hp1 HG01934.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02129.hp1 HG02132.hp1 HG02735.hp1 HG02809.hp2 HG03195.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 NA18747.hp2 NA18942.hp1 NA18953.hp2 NA18963.hp1 NA18970.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA19004.hp2 NA19057.hp1 NA19062.hp2 NA19064.hp2 NA19084.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0058 others(32): Show a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0202 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0264 a0001c0001t0001g0289 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0002g0008 a0001c0001t0007g0074 a0001c0003t0001g0357 a0001c0003t0001g0360 a0001c0003t0001g0365 a0001c0004t0001g0389	35	396	0.0884	684	c.94- others(699): Show c.94-6236_94-6235insGGCTCACTGCAACCTCCGCCTCCCGGATTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCATGCCCGGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGCGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCT GCGTCAACCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACGACGCCCG GCCAGGAATAATTTTATAAGGCAAGTTTAAGAGTTTAGATTTTGGCCGGG CGCGGTGGCTCTCACCTGTAATCCCAGCACTTGGGAGGCTGAGGCGGCTG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCGGCGGGCACCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGG GGAACAGAGAGAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGAGTT TAGATTTTATTTACAGGAGGCATGAACATTTTATTTATTTATTTATTTAT TTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGA TCTC	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ANXA2_chr15_60342151_60402986	60349939	C C	CAGGAGAA others(677): Show CAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAAG GAGGCAGGGGAAGGCAGGGAGGGAGGTGAAGGCAGGGAGGCAGGGGAAGG CAAGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAAGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	334	0.0030	684	c.838 others(699): Show c.838-743_838-742insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCTCCTT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCT CCTTGCCTTCCCCTGCCTCCCTGCCTTCACCTCCCTCCCTGCCTTCCCCT GCCTCCTTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC TCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349975	G G	GAGGGGAA others(677): Show GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	334	0.0030	684	c.838 others(699): Show c.838-779_838-778insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350101	G G	GAGGGGAA others(677): Show GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	334	0.0030	684	c.838 others(699): Show c.838-905_838-904insGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79309034	C C	CTGAGGAG others(677): Show CTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCC CCAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCTCCGCAGGTAGAAG GTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGG AGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCA GGTAGAAGGTCAGGGGCTGAGGAGTGATCCTCCGCAGGTAGAAGGTCAGG GGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGAT CCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGA GGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGATGGAGGAGTGATCCCCAGCAGGTAGAAGGTCA GGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGACTG ATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTA GAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTG GAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0001 a0001c0038t0001	a0001c0038t0001g0265 a0001c0038t0001g0265	1	298	0.0034	684	c.177 others(703): Show c.1773+1835_1773+1836insCTGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGGGGCTGAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGA GGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCTCCG CAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCA GGGGCTGAGGAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTG ATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCTCCGCAGGTA GAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTG GAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCC AGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGT CAGGGATGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTTGAGGAG TGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGACTGATCCCCAGCAGG TAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGG CGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCT CCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAG GTCAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309293	G G	GTGATCCC others(677): Show GTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAG GTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGG GCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATC CCCAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCTCCGCAGGTAGAA GGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAG GAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAG GGGCTGAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGA TCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAG AAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTG AGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCA GCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTC AGGGATGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGT GATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0190 a0002c0005t0001g0190	1	298	0.0034	684	c.177 others(703): Show c.1773+2094_1773+2095insGTGATCCCCAGCAGGTAGAAGGTCAG GGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGA TCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAG AAGGTCAGGGGCTGAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTG AGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCA GCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTC AGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGTAGT GATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGT AGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGT TGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCC CAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGATGGAGGA GTGATCCCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAG GTAGAAGGTCAGGGGCTGAGGACTGATCCCCAGCAGGTAGAAGGTCAGGG GCTGAGGA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(677): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0007 a0001c0004t0001g0007	1	391	0.0026	684	c.36 others(695): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
C20orf96_chr20_265863_295750	278978	G G	GGGCGGGA others(677): Show GGGCGGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGAAGGGCGGGACA GAGGGAGGGAGGGAGGGAGGAAGGGCGGGACAGAGGGAGGGAGGGAGGGA GGGAGGGCGGGACAGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGAAGGGCGGGAGGGAGGGA GGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGG GAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGC GGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACG GAGGGAGGGAGGGCGGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGAA GGGCGGGACAGAGGGAGGGAGGGAGGGAGGAAGGGCGGGACAGAGGGAGG GAGGGAGGGAGGGAGGGCGGGACAGAGGGAGGGAGGGAGGGAGGGCGGGA CGGAGGGAGGAAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGAGGGACG GAGGGAGGAAGGGCGGGACGGAGGGAGGGCGGGACGGAGGGAGGGAGGGA GGGAGGGAGGGACGGAGGGAGGAAGGGCGGGACGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGACGGAGGGAGGAAGGGCGGGAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0384 a0001c0001t0001g0224 a0001c0001t0001g0384	2	410	0.0049	684	c.465 others(699): Show c.465+193_465+194insGTCCCGCCCTTCCTCCCTCCGTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTTCCTCCCTCCGTCCCTCC CTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCGTCCCGCCCTTCCT CCCTCCGTCCCTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTTCCTCC CTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCTGTCCCGCCCTCCCTCCCT CCCTCCCTCCCTCTGTCCCGCCCTTCCTCCCTCCCTCCCTCCCTCTGTCC CGCCCTTCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCCGCCCTCCCT CCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCC CTCCCGCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCG CCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCGCCCTCC CTCCCTCCCTCCCTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCTGTCCCGCC CTCCCTCCCTCCCTCCCTCCCTCTGTCCCGCCCTTCCTCCCTCCCTCCCT CCCTCTGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCC CGCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(677): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACCACC ATCATCATCACCACCACCACCACCACCACCACCACCATCATCACCATCAC CACCAGCACCACCACCAACATCATCATCATCACCACCACCACCACCATCA CCACCACCATCATCATCACCACCACCACCATCACCACCATCACCACCAGC ACCACCACCAACATCATCATCATCACCACCACCACCACCATCAACACCAC CATCATCATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	376	0.0027	684	c.63+ others(697): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGATGATGATGTTGGTGGT GGTGCTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGATGATGGTGG TGGTGATGGTGGTGGTGGTGGTGATGATGATGATGTTGGTGGTGGTGCTG GTGGTGATGGTGATGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGAT GATGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGAT GGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGT GATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGT GGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTGA TGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTG GTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGT GATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGGT GATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGGT GGTGATGATGGTGATGATGATGGTGTTGATGATGGTGATGATGATGGTGG TG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CAPN11_chr6_44153820_44189401	44181720	C C	CACATACA others(677): Show CACATACAGACACAACCACACCACACACACACACACACACACTCACAGAC ACAACCACACCACACACACATACACACTCACATACAGACACAACCACACC ACACTCACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACATACACACTCACATACAGACACAACCACACCACACTCACACACAC ACACATACACACTCACAGACACAACCACACCACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACATACACACTCACATAC AGACAACCACACCACACTCACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACACATACACACTCACATACAGACACAACC ACACCACACACACACACACTCACATACAGACACAACCACACCACACTCAC ACATACACACATACAGACACAACCACACCACACTCACACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACACACATACAC ACTCACATACAGACACAACCACACCACACACACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACATACACACTCACATACAGAC ACAACCACACCACACACACACATACACACTCACAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	460	0.0022	684	c.193 others(701): Show c.1938+403_1938+404insTACAGACACAACCACACCACACACACAC ACACACACACTCACAGACACAACCACACCACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACATACACACTCACATACAGACAC AACCACACCACACTCACACACACATACACACTCACATACAGACACAACCA CACCACACTCACACACACACACATACACACTCACAGACACAACCACACCA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACATACACACTCACATACAGACAACCACACCACACTCACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACACATACACAC TCACATACAGACACAACCACACCACACACACACACACTCACATACAGACA CAACCACACCACACTCACACATACACACATACAGACACAACCACACCACA CTCACACACACACATACACACTCACATACAGACACAACCACACCACACTC ACACACACACACATACACACTCACATACAGACACAACCACACCACACACA CACATACACACTCACATACAGACACAACCACACCACACTCACACACACAT ACACACTCACATACAGACACAACCACACCACACACACACATACACACTCA CATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 10000 hits)