Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TBCD_chr17_82747065_82950914	82764973	C C	CTGTGTGC others(609): Show CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTC TGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTT ACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGG GTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGT GTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCAT AGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTT TCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTT GCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGT CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCT TTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTAC AAGCTTGTGGGTGTCTG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0270 a0001c0002t0001g0270	1	318	0.0031	616	c.333 others(631): Show c.333+915_333+916insTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCA TAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTT CTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAG CTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGG TGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTG CTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGC TTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTA CAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATA GTCTGCTTTTCTTACAAGCTTGTGGGTGTCTGTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
THEG_chr19_356747_381026	377282	C C	CCCCCTCT others(609): Show CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCC CACCCAGCCTCTCCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCGT GCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCTCCACCCAGCCT CTCCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCC AGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCCGTACC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	370	0.0027	616	c.-13 others(627): Show c.-1313_-1312insAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACGGGGGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGAGGCAC AGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCT GGGTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGGA GAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGAGAGGCTGGGTGGGGCACAGAGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1257		chr19	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(609): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCT CTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCT GTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0079 a0001c0001t0037g0079	1	256	0.0039	616	c.924 others(633): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(609): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCT TTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGT CTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCT CTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT GTCTCTCTCTCTGTCTC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	256	0.0039	616	c.924 others(633): Show c.924-2424_924-2423insGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACA GAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(609): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCT CTGTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGT CTCTTTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGT CTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGT CTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA20129.hp2 HG02895.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0084 a0001c0001t0015g0004 a0001c0001t0005g0084 a0001c0001t0015g0004	2	256	0.0078	616	c.924 others(633): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGA GAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACA GAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATATTTAT others(609): Show ATATTTATATTTTATTTTTATATTTATATTATATATATATTTTTATATTT ATATTTATATATTATTATATTATATTTATATATTATATAAAAATATATAT CATATATATTTATATATTATATAAAAATATATATCATATATATTTATATA TTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATAT ATCATATATATTTATATATTATATAAAAATATATATCATATATATTTATA TATTATATAAAAATATATATCATATATATTTATATATTAAAAATATATAT CATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAA AAATATATATCATATATATTTATATATTAAAAATATATATCATATATATT TATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATAT CATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAA AAATATATATCATATATATTTATATATTAAAAATATATATCATATATATT TATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATAT CATATATATTTATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0022 a0001c0002t0023g0022	1	128	0.0078	616	c.143 others(637): Show c.1437+28904_1437+28905insTTTATATTTTATTTTTATATTTAT ATTATATATATATTTTTATATTTATATTTATATATTATTATATTATATTT ATATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATAT TTATATATTATATAAAAATATATATCATATATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTA	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2418721	T T	TCCTTCCC others(609): Show TCCTTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCT TTCCTTTTCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCT CTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCC CTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTC CCTCCCTACGTCTCCTTTCCTTCCCTCCCTACGTCTCCTTCCCTTCCCTC CCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCA CCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCC ACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCC TCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCT CTCCTTCCCCTCCCTCCCTCCCTTTCCTTCCCCCCTCCCTTTCCTTCCCT CCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTT CCCTCCCTCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCC CTTTCCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0002 a0017c0018t0002	a0017c0018t0002g0001 a0017c0018t0002g0001	1	114	0.0088	616	c.215 others(633): Show c.2154+587_2154+588insCCCTTCTCTCCCTCCCTTTCCTTCCCTT CCCTTCCCTCCCTCCCTTTCCTTTTCTTCTCTCCTTCCCTTTCCTCCCTC CACTTCCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCC TTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCC TACCTCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTACG TCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTC CTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCT CCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTC TCCTTCCCTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTT CCCTTTCCTCCCTCTCTCTCCTTCCCCTCCCTCCCTCCCTTTCCTTCCCC CCTCCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTC CCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCTTCCCTCCCTCCC TTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(609): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC TCCTCCTCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTCT CTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCC TTCTCTTCCTCCTCCTCCCTCCCTCCTCTCCCTCCTCCTCCTCCCCTCCT CTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCT CCTCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCTCC TCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0274 a0001c0001t0007g0274	1	384	0.0026	616	c.424 others(633): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCTCCTCCTCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCCTC CTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCT CCTCCTCCCCTTCTCTTCCTCCTCCTCCCTCCCTCCTCTCCCTCCTCCTC CTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCCTCCTCCTCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCC TCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTC CTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TOLLIP_chr11_1269371_1314632	1287391	T T	TGCAGCCT others(609): Show TGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCG CAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCC CACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCC CCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCC GCCGCACCCTCCCCGCC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	348	0.0029	616	c.519 others(633): Show c.519+1232_519+1233insGGCGGGGAGGGTGCGGCGGGGAGGGTGC GGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGG GAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287391	T T	TGCAGCCT others(609): Show TGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCA GCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0116 a0001c0001t0008g0116	1	348	0.0029	616	c.519 others(633): Show c.519+1232_519+1233insGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGG CGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287391	T T	TGCAGCCT others(609): Show TGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCG CACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0118 a0001c0002t0008g0118	1	348	0.0029	616	c.519 others(633): Show c.519+1232_519+1233insGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGG GTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287675	C C	CCCTCCCC others(609): Show CCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CCCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCC CCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCCCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	348	0.0029	616	c.519 others(631): Show c.519+948_519+949insCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCG GGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CTGGGGTT others(609): Show CTGGGGTTAGGGAGCCCGGGGTTAGGGAGCCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGG GTTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTA GGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTTAGGGAGACCAAGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCCAGGGTTAAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	1	466	0.0022	616	c.49 others(627): Show c.4971_*4972insCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCT CCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCTCCCT AACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCT GGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCG GCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTC CTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAAC CCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCC CGGGCTCCCTAACCCCGGGCTCCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4750		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CTGGGGTT others(609): Show CTGGGGTTAGGGAGCCCGGGGTTAGGGAGCCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGG GTTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTA GGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCCAGGGTTAAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0047 a0003c0003t0001g0047	1	466	0.0022	616	c.49 others(627): Show c.4971_*4972insCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCT CCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCTCCCT AACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCT GGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCG GCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTC CTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAAC CCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCC CGGGCTCCCTAACCCCGGGCTCCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4750		chr11	TogoVar
TPSD1_chr16_1251069_1264008	1258684	C C	CCCCCTCC others(609): Show CCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCACTGCTCCAT CCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGCCCCTC ATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCCTGGGC CCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTT CTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTC CTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCCTCAGC CCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTC TTGAGTCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGCCCCCTCC CCCACCCTGAGCCCCCTCCCCTTTCTTGAGTCCCTCCTCCATCCTGAGCC CCCTCCCCTTTCTTGAGCCCTTCCTCCACCCTCAGCCCCCTCCCCTTTCT TGAGCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGCCCCCTCCC CCACCCTGAGCCCCCTCCCCTTTCTTGAGTCCCTCCTCCATCCTGAGCCC CTTCCCCTTTCTTGAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0001 a0001c0001t0059g0001	1	270	0.0037	616	c.31 others(625): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC ACTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCC CATCCTGGGCCCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTC CACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCC TTCCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTG AGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGAGTCCCTCCTCC ATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCCTCAGCCCCC TCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGA GCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGAGTCCCTCCTCCA TCCTGAGCCCCTTCCCCTTTCTTGAGTCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(609): Show TTATATATATATTATATATATAAAAATTATATATATTATATATATAAAAA TTATATATATATTATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATTATATATATA AAAATTATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATACATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0019 a0001c0008t0001g0019	1	272	0.0037	616	c.29 others(627): Show c.2994_*2995insTATATATATATTATATATATAAAAATTATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATTATATATATAAAAATTATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATACA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(609): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGT CCTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAA GACCCCACACACCCTCGTAAAGACCCCCATCATACCATCCTAAAGACCCC CACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATA CCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACACTCG TAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGA CCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCG TCATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACAC CGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCATCACACCATCCT GAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0120 a0003c0003t0001g0120	1	224	0.0045	616	c.225 others(635): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGACGGGGGTCT TTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGA GTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGT GTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGTGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTT AGGATGGTATGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATG GTATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGA TGGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGG TCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTAC GAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTG TGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(609): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGT CCTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAA GACCCCACACACCCTCGTAAAGACCCCCATCATACCATCCTAAAGACCCC CACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATA CCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACACTCG TAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGA CCCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCCA TCATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACAC CGTCCTGAAGACCCACACATACCCTCGTAAAGACCCCATCACACCATCCT GAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0093 a0003c0003t0001g0093	1	224	0.0045	616	c.225 others(635): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGTCTTTACGAGGGTATGTGTGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGATGGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGA GTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGT GTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGTGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTT AGGATGGTATGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATG GTATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGA TGGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGG TCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTAC GAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTG TGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028644	A A	ACCCCATC others(609): Show ACCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCC ATCACACCGTCCTGAAGACCCCCACACACACTCGTAAAGACCCCCATCAC ACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCATCACACCATC CTGAAGACCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAG ACCCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCC CACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCACACATA CCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGT AAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACC CCATCACACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCCATC ACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAG ACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCA CATACCCTCGTAAAGAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0002 a0013c0011t0002	a0013c0011t0002g0057 a0013c0011t0002g0057	1	224	0.0045	616	c.225 others(635): Show c.2251+1785_2251+1786insGTCTTTACGAGGGTATGTGGGGGTCT TCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGAC GGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGA TGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGT CTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTAC GAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTG TGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTATGTGTGG GTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTC AGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGAC GGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGATGGTGTG ATGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGG GTCTTTACGAGTGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGGTCTT TACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
VCX_chrX_7838171_7849143	7844304	G G	GGGGAGGG others(609): Show GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGAGG TGTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGG AGGTGTGTGGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0002 a0002c0006t0003g0002	1	341	0.0029	616	c.28 others(625): Show c.288_*289insGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG GAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGGAGAGGAGGTGTGTGGGGAGGGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		162		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(609): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	408	0.0025	616	c.53+ others(631): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(609): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATATTATATATAATAATATAATATATAATATACATT ATATAATAATATAATGTATATTATATAATAATAATGTAATATATAACATA TATTATATAATAATAATATAAGATATATTATATAATTAATATAATATATA ATATATATTATATAATAATAATATAAGATATATTATATAATTAATATAAT ATATAATATATATTATATAATTAATATAATATATAATATATATTATATAA TAATAATATAATATATATAATAATTATATAATATAGTATATAATATATAT TATATAATAATAATATAATATATATAATAATTATATAATATTAGAATATA TATTATACAATAATAATATAATATATATTATACAATAATAATATAATATA TATTATACAATAATAATATAATATATATATAATTATATAATATAATATAT ATAATAATAATATAATATAATATATAATATATATTATATAGTAATAATAT AATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	218	0.0046	616	c.55+ others(631): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTACTAT ATAATATATATTATATATTATATTATATTATTATTATATATATTATATTA TATAATTATATATATATTATATTATTATTGTATAATATATATTATATTAT TATTGTATAATATATATTATATTATTATTGTATAATATATATTCTAATAT TATATAATTATTATATATATTATATTATTATTATATAATATATATTATAT ACTATATTATATAATTATTATATATATTATATTATTATTATATAATATAT ATTATATATTATATTAATTATATAATATATATTATATATTATATTAATTA TATAATATATCTTATATTATTATTATATAATATATATTATATATTATATT AATTATATAATATATCTTATATTATTATTATATAATATATGTTATATATT ACATTATTATTATATAATATACATTATATTATTATATAATGTATATTATA TATTATATTATTATATATAATATATATTATATATTATATATTATATATAA TATATATTATATATTATATATTATATTATATAATTATTATATATTGCATT ATATTATATTATATATATTATATATATTATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GTGATATA others(609): Show GTGATATATATCATATATATCAAATATATGATATATATCATATATGTGAT ATATATCACATATGTGATATATATCATATCACATATCATATGACATATCA TATCACATATCACATATCACATATCACATATCACATATCATATGATATAT ATCACATGTGATATATAGCATATGTGATATATATCATATATATCACATGT GATATATAGCATATGTGATATATATCATATATATCACATATGATATATAG CATATGTGATATATATCATATATATCACATATGCTATATAGCATATGTGA TATATATCATATATATCACATATGCTATATAGCATACGTGATATATATCA TATATATCATATATGATGTATAGCATGATATATATGCTATATATCACATG TGATATATAGCATATATATCACATGTGATATATAGCATATATATCACATG TGATATATAGCATATATATCACATGTGATATATAGCATATATATCACATG TGATATATAGCATATATATCACATGTGATATATAGCATATGTGATATATA TGATATATGTGATATATATCATATGTGATATATATGATATATATCACATA TATATGATATATATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	350	0.0029	616	c.-35 others(627): Show c.-3503_-3502insTGATATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATCACATA TCATATGACATATCATATCACATATCACATATCACATATCACATATCACA TATCATATGATATATATCACATGTGATATATAGCATATGTGATATATATC ATATATATCACATGTGATATATAGCATATGTGATATATATCATATATATC ACATATGATATATAGCATATGTGATATATATCATATATATCACATATGCT ATATAGCATATGTGATATATATCATATATATCACATATGCTATATAGCAT ACGTGATATATATCATATATATCATATATGATGTATAGCATGATATATAT GCTATATATCACATGTGATATATAGCATATATATCACATGTGATATATAG CATATATATCACATGTGATATATAGCATATATATCACATGTGATATATAG CATATATATCACATGTGATATATAGCATATATATCACATGTGATATATAG CATATGTGATATATATGATATATGTGATATATATCATATGTGATATATAT GATATATATCACATATATATGATATATATCAC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(609): Show ATATATATCATATATGTGATATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATCACATA TCATATGACATATCATATCACATATCACATATCACATATCACATATCACA TATCATATGATATATATCACATGTGATATATAGCATATGTGATATATATC ATATATATCACATGTGATATATAGCATATGTGATATATATCATATATATC ACATATGATATATAGCATATGTGATATATATCATATATATCACATATGCT ATATAGCATATGTGATATATATCATATATATCACATATGCTATATAGCAT ACGTGATATATATCATATATATCATATATGATGTATAGCATGATATATAT GCTATATATCACATGTGATATATAGCATATATATCACATGTGATATATAG CATATATATCACATGTGATATATAGCATATATATCACATGTGATATATAG CATATGTGATATATATGATATATGTGATATATATCATATGTGATATATAT GATATATATCACATATATATGATATATATCACATATATATCATATATATC ATATATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA19090.hp1 NA18957.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0158 a0001c0001t0002g0159	2	350	0.0057	616	c.-34 others(627): Show c.-3475_-3474insTATATATCATATATGTGATATATATCATATATAT CAAATATATGATATATATCATATATGTGATATATATCACATATGTGATAT ATATCATATCACATATCATATGACATATCATATCACATATCACATATCAC ATATCACATATCACATATCATATGATATATATCACATGTGATATATAGCA TATGTGATATATATCATATATATCACATGTGATATATAGCATATGTGATA TATATCATATATATCACATATGATATATAGCATATGTGATATATATCATA TATATCACATATGCTATATAGCATATGTGATATATATCATATATATCACA TATGCTATATAGCATACGTGATATATATCATATATATCATATATGATGTA TAGCATGATATATATGCTATATATCACATGTGATATATAGCATATATATC ACATGTGATATATAGCATATATATCACATGTGATATATAGCATATATATC ACATGTGATATATAGCATATGTGATATATATGATATATGTGATATATATC ATATGTGATATATATGATATATATCACATATATATGATATATATCACATA TATATCATATATATCATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(610): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	249	0.0040	617	c.49- others(632): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(610): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCC TCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCC CCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGC CTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCC ACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCA CCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCAC CTCCCCCCTCCACACCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTC CACCTCCCCCCTCACCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0002 a0003c0004t0004g0002	2	268	0.0075	617	c.-37 others(628): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCTCACCCTGCACCTCCCTCTCGC CCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCA CGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCT CACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCG CACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTC CCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTC CCCCTCATCCTGCACCTCCCCCCTCCACACCCCCTCACCTCCCCCCACCT TCCACCTCCCCCCTCCACCTCCCCCCTCACCTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(610): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGGAGGGGGAGGAGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGA GGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGAGGGGGGGAG GAGGGGGAGGGGGAGGGGGAGGGGGGGAGGAGGGGGGGAGGAGGAGGGGG GAGGAGGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGG AGGAGGGGGGGGAGGAGGAGGGGGGGAGGAGGAGGGGGAGGAGGAGGAGG GGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAG GAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGAGGAGGAGG AGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGA GGGGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0300 a0001c0001t0022g0300	1	301	0.0033	617	c.125 others(638): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCT CCTCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCC CTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCC CCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCCCCCT CCTCCTCCCCCCCTCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCC CCCTCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCC TCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCTCC TCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCC TCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTC TCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(610): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGTTGGGGTGGGGTGG GGGAGGGGTGGGGTGGGGTGGGGGAAGGGTGTGGGTGGGGCTGGGGAGGG TTGGGGTGGGGGAAGGGTGTGTGTGGGGCTGGGGAGGGGTGGGGTGGAGT GGGGGAAGGGTATGGGTGGGGCTGGGGAGGGGTGGGGTGGGGTGGGAGGG GGAGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGAGGAGGG GTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGAGGAGGGGTGGAGGAGGGG TGGGGGAGGGAGGGGTGGGGTGGGGGAAGGGTGTGGGTGGGGGAGGGGTG GGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGG GGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGG GTGGGGTGGGGGAGGGGTGTGGGTGGGGTGGGGTGGGAGGGGGTGGGGTG GGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	284	0.0035	617	c.712 others(634): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCACCCCACCCACACCCCTCCCCCACCCCACCCACACCCTT CCCCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCCCCACCCCAC CCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCCACCCCTCCC CCACCCACACCCTTCCCCCACCCCACCCCTCCCTCCCCCACCCCTCCTCC ACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCTCCA CCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCCCCCTCCCACC CCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCCACTCCACCCC ACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCCAG CCCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCCCCCACCCCACC CCAACCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACCCT CCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACCC AGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CENPJ_chr13_24877279_24927861	24881816	C C	CTATATAG others(610): Show CTATATAGATGCATCTATATATCTATATAGATGCATCTATATATCTATAT ATAGATATATAGATGCATCTATATAGATATATAATCTATATAGATATATA GATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATA TATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGA TACATCTATATAGATATATATACATCTATATAGATATATAGATACATCTA TATAGATACATCTATATAGATACATCTATATAGATATATAGATACATCTA TATAGATATATAGATACATCTATATATATAGATACATCTATATATATAGA TACATCTATATAGATATATAGATACATCTATATAGATATATAGATACATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0006 a0001c0025t0006	a0001c0025t0006g0279 a0001c0025t0006g0279	1	440	0.0023	617	c.13 others(628): Show c.1360_*1361insTCTATATAGATGTATCTATATATCTATATAGATG TATCTATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTA TATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATC TATATAGATGTATCTATATATCTATATAGATGTATCTATATATATAGATG TATCTATATATATAGATGTATCTATATATCTATATAGATGTATCTATATA TCTATATAGATGTATCTATATAGATGTATCTATATAGATGTATCTATATA TCTATATAGATGTATATATATCTATATAGATGTATCTATATATCTATATA GATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATGTA TCTATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATA TATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTA TATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGA TTATATATCTATATAGATGCATCTATATATCTATATATAGATATATAGAT GCATCTATATAGATATATAGATGCATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		462		chr13	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(610): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	354	0.0028	617	c.69 others(628): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCC CTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCC CTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCC TCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCC TCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTC TTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTT CCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP46_chr10_132803392_132947570	132888446	A A	ACCTTCAC others(610): Show ACCTTCACCCCTGCCACCTGCACCCCTGCCGCCTGTACCCCTGCCACCTT CACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGTACCCCT GCCACCTTCACCCCTGCTGCCTGCACCCCGCCACCTTCACCCCTGCCACC TGCACCCCTGCCGCCTGTACCCCTGCCACCTTCACCCCTGCCGCCTGCAC CTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCCACCTTCACCCCTGCC GCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCACCTT CACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCATGCACCT GCCACCTTCACCCCTGCCGCCTGTACCCCTGCCACCTTCACCCCTGCCGC CTGCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCACCTTCA CCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCATGCACCTGC CACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCCCTGCCGCCT GCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTG CCACCTTCACCCCTGCCG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0046 a0046	a0046c0064 a0046c0064	a0046c0064t0001 a0046c0064t0001	a0046c0064t0001g0214 a0046c0064t0001g0214	1	246	0.0041	617	c.330 others(636): Show c.3305-2488_3305-2487insCGGCAGGGGTGAAGGTGGCAGGTGCA GGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGCAGGCGGCA GGGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGTGC ATGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTG GCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGG GGTGAAGGTGGCAGGGGTACAGGCGGCAGGGGTGAAGGTGGCAGGTGCAT GCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGC AGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGG TGAAGGTGGCAGGGGTACAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGC GGCAGGGGTGAAGGTGGCAGGGGTACAGGCGGCAGGGGTGCAGGTGGCAG GGGTGAAGGTGGCGGGGTGCAGGCAGCAGGGGTGAAGGTGGCAGGGGTAC AGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGC AGGGGTACAGGCGGCAGGGGTGCAGGTGGCAGGGGTGAAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(610): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCC TCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTC CTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCT CCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCC TCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0092 a0001c0001t0089g0092	1	270	0.0037	617	c.162 others(638): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCC CTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTT CCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCT TCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTC CTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNTN6_chr3_1088024_1409217	1245282	C C	CATATATA others(610): Show CATATATATAATATATATAATATATATATAACATATATATAATATATATA ATATATATATAACATATATATAATATATATATAATATATATAATATATAT ATAACATATATATAATATATATAACATATATATAATATATATAACATATA TATATAATATATATATAACATATATATATAATATATATATAACATATATA TATAATATATATATAACATATATATAATATATATATAACATATATATAAT ATATATAACATATATATAATATATATATAACATATATATATTATATATAT AACATATATATAATATATATATAACATTTATAATATATATATAACATATA TATAATATATATATAACATATATATATTATATATATAACATATATATATT ATATATATATAACATATATATAATATATATAACATATATATATAATATAT ATATAACATATATATATTATATATATATAACATATATATAATATATATAT AACATATATATATAATATATATATAACATATATATTATATATATAACATA TATATTATATATATAACATATATATAATATATATAACATATATATAATAT ATATAACATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	232	0.0043	617	c.358 others(636): Show c.358+17298_358+17299insATATATATAATATATATATAACATAT ATATAATATATATAATATATATATAACATATATATAATATATATATAATA TATATAATATATATATAACATATATATAATATATATAACATATATATAAT ATATATAACATATATATATAATATATATATAACATATATATATAATATAT ATATAACATATATATATAATATATATATAACATATATATAATATATATAT AACATATATATAATATATATAACATATATATAATATATATATAACATATA TATATTATATATATAACATATATATAATATATATATAACATTTATAATAT ATATATAACATATATATAATATATATATAACATATATATATTATATATAT AACATATATATATTATATATATATAACATATATATAATATATATAACATA TATATATAATATATATATAACATATATATATTATATATATATAACATATA TATAATATATATATAACATATATATATAATATATATATAACATATATATT ATATATATAACATATATATTATATATATAACATATATATAATATATATAA CATATATATAATATATATAACATATATATATAATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CGTCCACC others(610): Show CGTCCACCCATCCCCCCACCCACCCATCCGTCCATCCATCTGTCCACCCG TCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATC CATCCCCCCACCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCA CCCACCCATCCGTCCACCCATCTGTCCACCCGTCCGTCCATCCATCCCCC CGCCCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCA TCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTC CACCCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCA CCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCC CACCCACCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCCG TCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACC CACCCATCTATCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCA CCCATCCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATC TGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0322 a0001c0002t0001g0322	1	348	0.0029	617	c.13 others(628): Show c.1317_*1318insGTCCACCCATCCCCCCACCCACCCATCCGTCCAT CCATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCC ACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGT CCACCCATCCCCCCACCCACCCATCCGTCCACCCATCTGTCCACCCGTCC GTCCATCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCAT CCCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCC ACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCAT CCACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCC ATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCAT CCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCC ACCCATCCCCCCACCCACCCATCTATCCACCCATCTGTCCACCCATCCGT CCACCCATCCCCCCACCCATCCGTCCACCCATCCATCCACTCACCCATCC GTCCACTCACCCATCTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CRTC3_chr15_90524923_90650345	90647272	T T	TCAATCCT others(610): Show TCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCT CCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACA CCCCTCCTCCTCCACAATCCTCCTCCACAATCCTCCTCCACACCCCTCCT CCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACA CCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCT CCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACA ATCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCT CCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCC CTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACAC CCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTC CACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAA TCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTC CACACCCCTCCTCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0260 a0001c0001t0006g0260	1	276	0.0036	617	c.51 others(628): Show c.5132_*5133insCAATCCTCCTCCACACCCCTCCTCCTCCACAATC CTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCA CAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACAATCCTC CTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCA CAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTC CTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACAC CCCTCCTCCTCCACAATCCTCCTCCACAATCCTCCTCCACACCCCTCCTC CTCCACAATCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAA TCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTC AATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCC TCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACC CCTCCTCCTCCACAATCCTCCTCCACAATCCTCCTCCACACCCCTCCTCC TCCACAATCCTCCTCCACACCCCTCCTCCTCCA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1928		chr15	TogoVar
DIRAS1_chr19_2709567_2726372	2713650	T T	TCCTCACT others(610): Show TCCTCACTTCCTACACCCCACCACCTCCTCCACCCTTCATCCCATCCCTC ACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCC TACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACC CACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCAC CTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTC CACCCTTCACCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCT TCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCC CATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCC TCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTT CCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACA CCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACC ACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCC TCCACCCTTCATCCCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	617	c.35 others(628): Show c.3559_*3560insGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTA GGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGT GAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGA TGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGAT GAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGG TGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGG AGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGA CGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTG TAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAA GTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGG AATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGG ATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAG GGTGGAGGAGGTGGTGGGGTGTAGGAAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		916		chr19	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(610): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01255.hp2 HG01258.hp1 others(20): Show HG00423.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01952.hp2 HG02071.hp2 HG02602.hp1 HG02965.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18952.hp2 NA18957.hp1 NA18960.hp1 NA19001.hp2 NA19011.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp1 NA19082.hp2 NA19086.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0014 a0015	a0001c0001 a0001c0074 a0002c0019 others(7): Show a0001c0001 a0001c0074 a0002c0019 a0003c0015 a0004c0025 a0005c0006 a0006c0009 a0008c0014 a0014c0031 a0015c0038	a0001c0001t0002 a0001c0074t0002 a0002c0019t0001 others(7): Show a0001c0001t0002 a0001c0074t0002 a0002c0019t0001 a0003c0015t0014 a0004c0025t0003 a0005c0006t0001 a0006c0009t0005 a0008c0014t0001 a0014c0031t0001 a0015c0038t0005	a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0101 others(20): Show a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0129 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0074t0002g0120 a0002c0019t0001g0104 a0003c0015t0014g0085 a0004c0025t0003g0084 a0005c0006t0001g0122 a0005c0006t0001g0130 a0005c0006t0001g0131 a0006c0009t0005g0081 a0006c0009t0005g0082 a0006c0009t0005g0138 a0008c0014t0001g0018 a0014c0031t0001g0058 a0015c0038t0005g0142	23	306	0.0752	617	c.953 others(632): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTTTATTTATTTTT TTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGT CATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGA CCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA TCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTT TTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCAT GTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTC CATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGAC ATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAAC ATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTA TATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGAT CCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(610): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA21309.hp1 NA19240.hp1 NA21309.hp1	a0009 a0011 a0009 a0011	a0009c0016 a0011c0036 a0009c0016 a0011c0036	a0009c0016t0003 a0011c0036t0003 a0009c0016t0003 a0011c0036t0003	a0009c0016t0003g0043 a0011c0036t0003g0049 a0009c0016t0003g0043 a0011c0036t0003g0049	2	306	0.0065	617	c.953 others(632): Show c.953-287_953-286insTTTTTTTTTTTTTTTTATTTATTTATTTTT TTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGT CATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGA CCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA TCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTT TTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCAT GTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTC CATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGAC ATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAAC ATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTA TATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGAT CCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
FBN2_chr5_128252909_128543245	128539754	C C	CATATATA others(610): Show CATATATAACATGATATATATATCATATATATCATATATCATATATATTA TATCATATATATTATATCATATATATCATATATCATATATATGATATATA TGATAGATCATATATTATATCATATATATCATATATATGAGATCATATAT GATCTATCATATATATCATATCATATATATCATATCATTATCATATATCA CATATATCACATATATCACATATCACATATATCACATATATCATATATCA TATATCACATATATCATATATATCATATATCACATATATCATATATATCA TATATCACATATATCATATATATCATATATCACATATATCATATATATCA TATATATCATATATATCATATATATCATATATATCATATATATCATATAT ATCATATATATCATATATATCATATATATCATATATATCATATATATCAT ATATCATATATATCATATATATCATATATATCATATATCATATATATCAT ATATATCATATATCATATATATCATATATATCATATATCATATATATCAT ATATATCATATATATCATATATCTTATATATCATATATATCATATATTAT ATATCATATATATCATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0020 a0020	a0020c0043 a0020c0043	a0020c0043t0019 a0020c0043t0019	a0020c0043t0019g0018 a0020c0043t0019g0018	1	236	0.0042	617	c.-21 others(628): Show c.-2152_-2151insATATGATATATATGATATATAATATATGATATAT ATGATATATAAGATATATGATATATATGATATATATGATATATATGATAT ATGATATATATGATATATATGATATATGATATATATGATATATATGATAT ATGATATATATGATATATATGATATATATGATATATGATATATATGATAT ATATGATATATATGATATATATGATATATATGATATATATGATATATATG ATATATATGATATATATGATATATATGATATATATGATATATATGATATA TGTGATATATGATATATATGATATATGTGATATATGATATATATGATATA TGTGATATATGATATATATGATATATGTGATATATGATATATGATATATG TGATATATGTGATATGTGATATATGTGATATATGTGATATATGATAATGA TATGATATATATGATATGATATATATGATAGATCATATATGATCTCATAT ATATGATATATATGATATAATATATGATCTATCATATATATCATATATAT GATATATGATATATATGATATAATATATATGATATAATATATATGATATA TGATATATATGATATATATATCATGTTATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1510		chr5	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(610): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGAGGTGGGGAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGA GGTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGA GGTGGGGGGCTAAGAAGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGA GGTGGGGGCTGGGGAGGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAG GCTGGGGGTGCTGGGCAGGCTGAGGAGGTGGGGAGGCTGGGGGAGCAAGG GGTGGGGGAGGTAGGGAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGG AGGCTGGGGGGGTGGGGGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGG AGGCTGGGGGGGCTGGGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0153 a0001c0005t0002g0153	1	236	0.0042	617	c.148 others(634): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCTCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT TCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCT CCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCCCAGCCC CCACCTCCCCAGCCTCCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCC CCACCTCCCCAGCCTTCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCC CCACCTCCCCAGCCTCCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCC CAGCCTCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCC AGACTCCCAGCACCCCCAACCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
HSPA12A_chr10_116666192_116747566	116732323	A A	AAAAAAAC others(610): Show AAAAAAACAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAG AAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	320	0.0031	617	c.40+ others(634): Show c.40+10106_40+10107insCTTTCTTTCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTGTTTTTT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
INO80_chr15_40973880_41121280	41031614	G G	GAAGGGAG others(610): Show GAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG AGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAG GGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGG AGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAG GGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGA AGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAG GGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAG GGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGA AGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGGAG GAAAGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGAAAGGGAG GAAGGGAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19240.hp2 HG02630.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0258 a0001c0001t0004g0259	2	282	0.0071	617	c.290 others(636): Show c.2908-3879_2908-3878insTCCTCCCTTCCTCCCTTCCTCCCTTT CTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCTTTCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(610): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03516.hp2 NA18974.hp2 others(3): Show HG02572.hp1 HG03516.hp2 NA18974.hp2 NA18986.hp2 NA19059.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0032 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0032 a0001c0001t0052 a0001c0001t0053 a0001c0003t0003	a0001c0001t0001g0001 a0001c0001t0003g0002 a0001c0001t0032g0037 others(3): Show a0001c0001t0001g0001 a0001c0001t0003g0002 a0001c0001t0032g0037 a0001c0001t0052g0129 a0001c0001t0053g0130 a0001c0003t0003g0117	6	386	0.0155	617	c.-46 others(628): Show c.-4676_-4675insTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTT TCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTT TCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTC CCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTC CCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCC CTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTC CCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCC TCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
LMF1_chr16_848634_975984	922720	T T	TGGGTTTT others(610): Show TGGGTTTTCGTGTGTGATGTGGTGTTGGTGTCATGTGGTGTTGGTGTCGT GTTGTTGCGAAGGCCCTGTGTGAAGGTCGCCTCGGTTTTCGGGTGTGATG TGGTGTTGGCGTCGTGTTGTTGCGAAGGCCCTGTGTGAAGGTCGCCTGGG TTTTCGGGTGTGATGTGGTGTTGGTGTCATGTGGTGTTGGTGTCGTGTTG TTGCGAAGGCCCTGTGTGAAGGTCGCCTCGGTTTTCGGGTGTGATGTGGT GTTGGCGTCGTGTTGTTACGAAGGCCCTGTGTGAAAGTCGCCTGGGTTTT CGGGTGTGATGTGGTGTTGGTGTCGTGTTGTTGCGAAGGCCCTGTGTGAA GGTCGCCTCGGTTTTCGGGTGTGATGTGGTGTTGGCGTCGTGTTGTTGCG AAGGCCCTGTGTGAAGGTCGCCTGGGTTTTCGGGTGTGATGTGGTGTTGG CGTCGTGTTGTTGCGAAGGCCCTGTGTGAAGGTCGCCTGGGTTTTCGGGT GTGATGTGGTGTTGGCGTCGTGTTGTTGCGAAGGCCCTGTGTGAAGGTCG CCTGGGTTTTCGGGTGTGATGTGGTGTTGGCGTCGTGTTGTTGAGAAGGC CCTGTGTGAAGGTCGCCG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	294	0.0034	617	c.514 others(636): Show c.514+11523_514+11524insCGGCGACCTTCACACAGGGCCTTCTC AACAACACGACGCCAACACCACATCACACCCGAAAACCCAGGCGACCTTC ACACAGGGCCTTCGCAACAACACGACGCCAACACCACATCACACCCGAAA ACCCAGGCGACCTTCACACAGGGCCTTCGCAACAACACGACGCCAACACC ACATCACACCCGAAAACCCAGGCGACCTTCACACAGGGCCTTCGCAACAA CACGACGCCAACACCACATCACACCCGAAAACCGAGGCGACCTTCACACA GGGCCTTCGCAACAACACGACACCAACACCACATCACACCCGAAAACCCA GGCGACTTTCACACAGGGCCTTCGTAACAACACGACGCCAACACCACATC ACACCCGAAAACCGAGGCGACCTTCACACAGGGCCTTCGCAACAACACGA CACCAACACCACATGACACCAACACCACATCACACCCGAAAACCCAGGCG ACCTTCACACAGGGCCTTCGCAACAACACGACGCCAACACCACATCACAC CCGAAAACCGAGGCGACCTTCACACAGGGCCTTCGCAACAACACGACACC AACACCACATGACACCAACACCACATCACACACGAAAACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(610): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATAT AAATATATATGTTTTGTAAATATATATAAATATGTTTTGTAAATATATAA ATATATATTTTGTAAATATATATATATTTTGTAAATATATATTGTAAATA TATATAAATATATATTTTGTGAATTATATATATATTGTAAATTATATATA TATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATATGTATAT ATATTTTGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAA TATATACATTTTGTAAATATATAAATATATACATTTTGTAAATATATAAA AATATATACATTTTGTAACTATATAAAAATATATGTTGTAAATATATAAA AATATATATATTTTGTAAATATATAAATATATATATTTTGTAAATATATA TATATTTTGTAAATATATATAAATATATACATATTTTGTAAATATATAAA TATATACATATTTTGTAAATCTATATAAATATATACATATTTTGTAAATC TATATAAATATATACATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01361.hp1 HG02258.hp2 others(13): Show HG01261.hp2 HG01361.hp1 HG02258.hp2 HG02717.hp2 HG02818.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03516.hp1 HG03516.hp2 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2	a0001 a0004 a0007 others(3): Show a0001 a0004 a0007 a0010 a0018 a0019	a0001c0008 a0004c0005 a0004c0010 others(4): Show a0001c0008 a0004c0005 a0004c0010 a0007c0051 a0010c0014 a0018c0019 a0019c0020	a0001c0008t0001 a0004c0005t0001 a0004c0005t0006 others(5): Show a0001c0008t0001 a0004c0005t0001 a0004c0005t0006 a0004c0010t0001 a0007c0051t0002 a0010c0014t0002 a0018c0019t0005 a0019c0020t0001	a0001c0008t0001g0145 a0004c0005t0001g0141 a0004c0005t0001g0142 others(12): Show a0001c0008t0001g0145 a0004c0005t0001g0141 a0004c0005t0001g0142 a0004c0005t0001g0143 a0004c0005t0001g0146 a0004c0005t0001g0148 a0004c0005t0001g0215 a0004c0005t0006g0151 a0004c0010t0001g0133 a0007c0051t0002g0156 a0010c0014t0002g0134 a0018c0019t0005g0002 a0018c0019t0005g0007 a0019c0020t0001g0135 a0019c0020t0001g0245	16	330	0.0485	617	c.197 others(636): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATAGATTTACAAAATATGTATATATTTATATA TTTACAAAATATGTATATATTTATATATATTTACAAAATATATATATATT TACAAAATATATATATTTATATATTTACAAAATATATATATTTTTATATA TTTACAACATATATTTTTATATAGTTACAAAATGTATATATTTTTATATA TTTACAAAATGTATATATTTATATATTTACAAAATGTATATATTTACAAA ATATATATACATATTTACAAAATATATATATTTACAAAATATATATACAT ATTTACAAAATATATATATTTACTATATATATTTACAAAATATATATATA ATTTACAATATATATATAATTCACAAAATATATATTTATATATATTTACA ATATATATTTACAAAATATATATATATTTACAAAATATATATTTATATAT TTACAAAACATATTTATATATATTTACAAAACATATATATTTATATATAT TTACAAAACATATATATTTATATATATTTACAAAACATATATATTTATAT ATATTTACAAAACATATATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MAP3K15_chrX_19355059_19520508	19478090	G G	GGTGGGGG others(610): Show GGTGGGGGAGAGGGGGGAGAGAGGTGGGAGGGGGAGAGAGGGGGGAGGGG GAGAGAGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGAG AGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGG AGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGG GGGGAGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGG GGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGG GAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGAGGGGG GAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGG GGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGAGGGGGG AGGGGGGAGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGGGGGGAGGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGA GAGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGG GGGAGAGAGGGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0142 a0002c0003t0007g0142	1	163	0.0061	617	c.525 others(634): Show c.525+8391_525+8392insTCTCTCCCCCTCTCTCCCCCCTCTCCCC CCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCTCCC CCCTCTCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCCCTCCCCCCTC TCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTC CCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCC CTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCC CCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCTCCC CCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCC CTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCTCCCCCCTCCCCCCT CTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCC CCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCC TCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCTCTCTCCCCCTCCCCC CTCTCTCCCCCTCCCACCTCTCTCCCCCCTCTCCCCCAC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(610): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGGA GGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGG GGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGG GGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGG GGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGG AGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGG GAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0164 a0002c0002t0002g0164	1	272	0.0037	617	c.250 others(632): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTACCC TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTC ACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCG CCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCC CTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCC TTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(610): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGTGTGGAGGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGA GGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGG GTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGA GGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGG AGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGG GGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGT GGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGGGGCG CGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGAG GGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGGCGCGTGGAG GGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTG GGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAG GGGGGCGTGTGGGGGGGT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	388	0.0026	617	c.159 others(634): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGG GGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTG TGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGG GCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGG GGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGG GCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGA GGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGT GGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGAGGGG CGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGGCGCGTGGAGGGG GCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGG GGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGG GGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535607	G G	GGTGCAGG others(610): Show GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC AGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGA TCCCTCCCGGGGCAATGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0281 a0001c0006t0001g0281	1	324	0.0031	617	c.140 others(634): Show c.140+8416_140+8417insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	841603	C C	CGACCACG others(610): Show CGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCG GCGAGCAGGTCCACCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTC CACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCA CGGTGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCA CACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCA GGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCACCCTG ACCACGGCGCATCTCACACCCGCGAGCAGGTCCACCCTGACCACGGCGCA TCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCAC GGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCAC CCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGC GCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACG GGCGAGCAGGTCCCCCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	242	0.0041	617	c.361 others(636): Show c.361-15526_361-15525insAGGGGGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGT CGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCT GCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGT GAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGT GGTCAGGGTGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGTGG ACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCC CGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGC GCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCACCGTGGTCAGG GGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCT CGCCCGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCGGCATGA GATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar

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Search Results (Total: 10000 hits)