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
B3GNTL1_chr17_82937149_83056770	83052606	T T	TGAGGTCC others(299): Show TGAGGTCCTCCAGGAGGAGGGGTGCCCAGGAGTGAGGCCCTCACCCCACC GTGAGGTCCCCCAGAAGGAGGGGTGCCCAGGAGTGAGACCCTGACCCCAC CAGGAGGTCCCCCAGGAGGAGGGGTGCCCAGGAGTGAGGCCCTGACCCCA CCGTGAGGTCCTCCAGGAGGAGGGGTGCCCAGGAGTGAGGCCCTGACCCC ACCGTGAGGTCCTCCAGGAGGAGGGGTGCCCAGGAGTGAGGCCCTCACCC CACCGTGAGGTCCCCCAGAAGGAGGGGTGCCCAGCAGTGAGACCCTGACC CCACCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02886.hp1 HG03225.hp2 others(1): Show HG02559.hp1 HG02886.hp1 HG03225.hp2 HG06807.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0010 a0001c0011t0017 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017	a0001c0011t0001g0144 a0001c0011t0010g0146 a0001c0011t0010g0147 others(1): Show a0001c0011t0001g0144 a0001c0011t0010g0146 a0001c0011t0010g0147 a0001c0011t0017g0145	4	266	0.0150	306	c.-85 others(315): Show c.-856_-855insCTGGTGGGGTCAGGGTCTCACTGCTGGGCACCCCTC CTTCTGGGGGACCTCACGGTGGGGTGAGGGCCTCACTCCTGGGCACCCCT CCTCCTGGAGGACCTCACGGTGGGGTCAGGGCCTCACTCCTGGGCACCCC TCCTCCTGGAGGACCTCACGGTGGGGTCAGGGCCTCACTCCTGGGCACCC CTCCTCCTGGGGGACCTCCTGGTGGGGTCAGGGTCTCACTCCTGGGCACC CCTCCTTCTGGGGGACCTCACGGTGGGGTGAGGGCCTCACTCCTGGGCAC CCCTCCTCCTGGAGGACCTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		837		chr17	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(299): Show TTATATATATTATATATATATTTTTATATATATATAATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATATTATATATATATATATATATTATATATATATATAT ATATTATATATATATTTATATATATATATATTATATATATATTTATATAT ATATATATTATATATATATTTATATATATATATATTATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATATTATATATATAT TTATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0179 a0001c0008t0002g0179	1	216	0.0046	306	c.-2- others(323): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATATAAATATATATATAAT ATATATATATATAAATATATATATAATATATATATATATATATAATATAT ATATATATATATAATATATATATATATATAAATATATATATAATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATTATATAT ATATAAAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BOK_chr2_241553745_241579131	241570418	C C	CGTACGGG others(299): Show CGTACGGGAGGGAGTGGCGGATGGGTGAGCGCCTGAGTGCCCATGTGGGT GGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGGTG GGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTAC AGACGTACGGGAGGGAGTGGCGGATGGGTGAGCGCCTGAGTGCCCATGTG GGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGG ATGGGTGACTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0186 a0001c0001t0012g0186	1	434	0.0023	306	c.513 others(321): Show c.513+158_513+159insCGCCTGAGTGCCCATGTGGGTGGGAGAGCT GGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGGTGGGTGAGCCT CTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACG GGAGGGAGTGGCGGATGGGTGAGCGCCTGAGTGCCCATGTGGGTGGGAGA GCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAC TGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGT ACGGGAGGGAGTGGCGGATGGGTGAG	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241570613	T T	TGGGGGTG others(299): Show TGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTG GCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGC GAGGGTACAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCG CCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGG AATGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGG TGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGA GCGCCTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18960.hp2 NA19056.hp2 others(3): Show HG01934.hp2 NA18960.hp2 NA19056.hp2 NA19067.hp2 NA19074.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0113 a0001c0001t0010g0006 a0001c0001t0010g0113	6	434	0.0138	306	c.513 others(321): Show c.513+363_513+364insGGGAGGGAGTGGCGGATGGGTGAGTGTCTG AGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGAGGTACGGG AGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGC TGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGGTGGGTGAGTG TCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTAC GGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGA GCTGGGGTGCGAGGGTGCAGAGGTAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241570830	C C	CTCTGAGC others(299): Show CTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTA CGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGA GAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTG AGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGA CGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGGGGGGTG GGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGG GTGAGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	434	0.0023	306	c.513 others(321): Show c.513+669_513+670insGGGAGGGAGTGGCGGATGGGTGAGTGTCTG AGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGG AGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCT GGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGT CTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACG GGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGA GCTGGGGTGCGAGGGTGCAGAGGTAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BPIFC_chr22_32408845_32469446	32423939	T T	TAAAACTC others(299): Show TAAAACTCCACAGCTTTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAAGAGGCGGAGCTTG CAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	422	0.0024	306	c.121 others(325): Show c.1218-4536_1218-4535insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTTCGCCCAAGC TGGACTGCAGTGGCGCTATCCCGGCTCACTGCAAGCTCCGCCTCTTGGGT TCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGC CCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAAAGCTGTGGAGTTTT	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BRF1_chr14_105204286_105306001	105229664	C C	CGTGGCAC others(299): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACA GCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGA CAGCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	72	0.0139	306	c.695 others(321): Show c.695-752_695-751insAGGGCTGTCAGGCTGTCCCCCGCCCCCAGC TGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGG TTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCC CAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105229963	G G	GCAGCCCT others(299): Show GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0001 a0001c0003t0009g0001	1	72	0.0139	306	c.695 others(323): Show c.695-1051_695-1050insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACAGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105232112	T T	CGTGGCAC others(299): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGC CCCGTGGCACCTTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCCGTGGCACCTTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGG CAGCCCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	72	0.0139	306	c.695 others(323): Show c.695-3199_695-3198insGGGCTGCCAGGCTGTCCCCCGCCCCCAG CTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAG GTTGTTGCTCCTGAAGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCC AGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCT AGGTTGTTGCTCCTGAAGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCC CCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAGATG CTAGGTTGTTGCTCCTGAGGGTGCCACG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105232207	G G	GCAGCCCC others(299): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	72	0.0139	306	c.695 others(323): Show c.695-3295_695-3294insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105232717	A A	ACAGCCCC others(299): Show ACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCTACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	72	0.0139	306	c.695 others(323): Show c.695-3805_695-3804insCCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTAGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105233125	G G	GCAGCCCC others(299): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	72	0.0139	306	c.695 others(323): Show c.695-4213_695-4212insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105233188	G G	GTCCGCGT others(299): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCC CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	72	0.0139	306	c.695 others(323): Show c.695-4276_695-4275insTAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTG AGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCC CCCGCCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105234616	G G	GTCCGCGT others(299): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCC CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	72	0.0139	306	c.695 others(323): Show c.695-5704_695-5703insTAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTG AGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCC CCCGCCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105234921	T T	GGTCCGCG others(299): Show GGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGT GGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACC ACGGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCC GTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACA CCACGGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCC CCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCA CACCACT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	72	0.0139	306	c.695 others(323): Show c.695-6008_695-6007insGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCC CCCAGCTGGGCGACTACGCGGACCGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACCGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGACC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105235063	G G	GCAGCCCC others(299): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	72	0.0139	306	c.695 others(323): Show c.695-6151_695-6150insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105235981	G G	GCAGCCCC others(299): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCTGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	72	0.0139	306	c.694 others(323): Show c.694+5283_694+5284insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCAGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105237879	A A	ATCCGCGT others(299): Show ATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCCG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCC CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	72	0.0139	306	c.694 others(323): Show c.694+3385_694+3386insCAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTG AGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCC CCCGCCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238435	T T	CGTGGCAC others(299): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGC CCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACA GCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGA CAGCCCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	72	0.0139	306	c.694 others(323): Show c.694+2830_694+2831insGGGCTGTCAGGCTGTCCCCCGCCCCCAG CTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAG GTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCC AGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCT AGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCC CCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATG CTAGGTTGTTGCTCCTGAGGGTGCCACG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105240021	G G	GTCCGCGT others(299): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCC TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	72	0.0139	306	c.694 others(323): Show c.694+1243_694+1244insTAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTG AGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCC CCCGCCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRINP3_chr1_190092658_190482864	190437073	C C	CTGGCTAC others(299): Show CTGGCTACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTCTCGATCTCCCGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	240	0.0042	306	c.236 others(325): Show c.236+17581_236+17582insCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCGGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGAAGTAGCCA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRIP1_chr17_61674139_61868528	61716776	C C	CCCATATT others(299): Show CCCATATTATTTCCACTACTGGAAATAATATGCTTCCATATTATTTCCAC TACTGGAAATAATATGCTTCCATATTATTTCCACTACTGGAAATAATATG CTTCCATATTATTTCCACTACTGGAAATAATATGCTTCCATATTATTTCC ACTACTGGAAATAATATGCTTCCATATTATTTCCACTACTGGAAATAATA TGCTTCCATATTATTTCCACTACTGGAAATAATATGCTTCCATATTATTT CCACTACTGGAAATAATATGCTTCCATATTATTTCCACTACTGGAAATAA TATGCTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0192 a0001c0001t0008g0192	1	266	0.0038	306	c.238 others(323): Show c.2380-714_2380-713insAAGCATATTATTTCCAGTAGTGGAAATA ATATGGAAGCATATTATTTCCAGTAGTGGAAATAATATGGAAGCATATTA TTTCCAGTAGTGGAAATAATATGGAAGCATATTATTTCCAGTAGTGGAAA TAATATGGAAGCATATTATTTCCAGTAGTGGAAATAATATGGAAGCATAT TATTTCCAGTAGTGGAAATAATATGGAAGCATATTATTTCCAGTAGTGGA AATAATATGGAAGCATATTATTTCCAGTAGTGGAAATAATATGGAAGCAT ATTATTTCCAGTAGTGGAAATAATATGG	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	16/19			chr17	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(299): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0042 a0001c0002t0003g0042	1	416	0.0024	306	c.-42 others(317): Show c.-4254_-4253insGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTA GCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
C1orf87_chr1_59985394_60078770	60004924	G G	GGCAGCTT others(299): Show GGCAGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTTTTGCCC AGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAG GTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTCAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	382	0.0026	306	c.119 others(325): Show c.1193-3769_1193-3768insTGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTGAAAATA CAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTC TGTCTCAAAAAAAAAAAAAAAAAAAGCTGC	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	9/11			chr1	TogoVar
C7orf50_chr7_992006_1143247	1128023	A A	ACAATCTC others(299): Show ACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAA TCTCGGCTCATCCCACTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTC GGCTCATCTCACCGTCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACTGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCTGGA GTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCCAGGCTGGAGTGC AGTGGCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0247 a0001c0001t0005g0247	1	326	0.0031	306	c.-1- others(319): Show c.-1-638_-1-637insCGCCACTGCACTCCAGCCTGGGTGACGGTGAG ATGAGCCGAGATGGCGCCACTGCACTCCAGACGGTGAGATGAGCCGAGAT GGCGCCACTGCACTCCAGCCCGGGTGACAGTGGGATGAGCCGAGATTGTG CCACTGCACTCCAGCCCGGGTGACGGTGGGATGAGCCGAGATGGCGCCAC TGCACTCCAGACGGTGAGATGAGCCGAGATGGCGCCACTGCACTCCAGCC CGGGTGACAGTGGGATGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGG TGACGGTGGGATGAGCCGAGATTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CACNA1C_chr12_2047987_2702950	2520301	C C	CCAATGGC others(299): Show CCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTG CCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGCCCAATGGCCATGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCA TTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTC ATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCT CATTGCA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02647.hp1 HG02896.hp1 others(3): Show HG01358.hp1 HG02647.hp1 HG02896.hp1 HG03471.hp1 HG03579.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0017 a0001c0001t0021 a0001c0001t0028 others(3): Show a0001c0001t0017 a0001c0001t0021 a0001c0001t0028 a0001c0003t0005 a0001c0003t0040 a0001c0007t0005	a0001c0001t0017g0004 a0001c0001t0021g0055 a0001c0001t0028g0081 others(3): Show a0001c0001t0017g0004 a0001c0001t0021g0055 a0001c0001t0028g0081 a0001c0003t0005g0031 a0001c0003t0040g0011 a0001c0007t0005g0002	6	104	0.0577	306	c.139 others(325): Show c.1390+7469_1390+7470insCCAATGGCCATGTGCTTCAGAGGAGG GAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCACAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520301	C C	CCAATGGC others(299): Show CCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTG CCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCA TTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTC ATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCT CATTGCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0036 a0001c0004t0036	a0001c0004t0036g0099 a0001c0004t0036g0099	1	104	0.0096	306	c.139 others(325): Show c.1390+7469_1390+7470insCCAATGGCCGTGTGCTTCAGAGGAGG GAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCACAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520621	C C	CTTCAGAG others(299): Show CTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGT GCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTG TGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGT GTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCG TGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCC GTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGC CGTGTGT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0069 a0001c0006t0003g0069	1	104	0.0096	306	c.139 others(325): Show c.1390+7672_1390+7673insCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGTTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520810	C C	CCCAATGG others(299): Show CCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGCCCAATGGCCGTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTCA TTGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTC ATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCT CATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTC TCATTGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0014 a0001c0022t0014	a0001c0022t0014g0050 a0001c0022t0014g0050	1	104	0.0096	306	c.139 others(325): Show c.1390+7876_1390+7877insCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCATAGGA GGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCATAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CAP1_chr1_40035729_40077648	40059014	T T	TTGCAAAT others(299): Show TTGCAAATTCTAACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACA GGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGG GGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC GCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG01175.hp2 others(29): Show HG00408.hp2 HG00597.hp2 HG01175.hp2 HG01255.hp2 HG02300.hp2 HG02559.hp2 HG02965.hp1 HG03017.hp1 HG03654.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18977.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19059.hp2 NA19060.hp1 NA19068.hp1 NA19087.hp2 NA19088.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0020 a0001c0001t0003 a0001c0001t0012 a0001c0001t0020	a0001c0001t0003g0006 a0001c0001t0003g0019 a0001c0001t0003g0042 others(19): Show a0001c0001t0003g0006 a0001c0001t0003g0019 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0185 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0225 a0001c0001t0012g0228 a0001c0001t0020g0194	32	378	0.0847	306	c.-10 others(321): Show c.-10-305_-10-304insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTAC AGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCG GGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTGCAAATTCTAACTTTCT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAP1_chr1_40035729_40077648	40059014	T T	TTGCAAAT others(299): Show TTGCAAATTCTAACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACG GGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGG GGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC GCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0187 a0001c0008t0001g0187	1	378	0.0027	306	c.-10 others(321): Show c.-10-305_-10-304insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTAC GGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCG GGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTGCAAATTCTAACTTTCT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN15_chr16_522712_559636	544746	T T	TCGCCTCC others(299): Show TCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	410	0.0024	306	c.-22 others(323): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGTCGTCTCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(299): Show CCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCC CCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGTCGT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	410	0.0024	306	c.-22 others(323): Show c.-22-1985_-22-1984insCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGTCGTCTCCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPZA3_chr12_18733119_18744188	18743242	T T	TAGAAAAT others(299): Show TAGAAAATGGGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGGTCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	392	0.0026	306	c.40 others(317): Show c.4074_*4075insAGAAAATGGGTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	CAPZA3	ENSG00000177938.5	transcript	ENST00000317658.5	protein_coding		4055		chr12	TogoVar
CBLB_chr3_105650461_105874012	105809492	T T	TGAGACTT others(299): Show TGAGACTTATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACTGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0037 a0001c0004t0037	a0001c0004t0037g0165 a0001c0004t0037g0165	1	380	0.0026	306	c.420 others(325): Show c.420-32951_420-32950insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGGCCATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAATAAGTCTC	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18			chr3	TogoVar
CCDC30_chr1_42458286_42662190	42535699	T T	TATATATA others(299): Show TATATATATATTATATATATATAATATATATATTATATATATATAATATA TATATTATATATATATAATATATATATTATATATATATAATATATATATT ATATATATATAATATATATATTATATATATATAATATATATATTATATAT ATATTATATATATATTATATATATATAATATATATATTATATATATATAA TATATATATAATATATATATAATATATATATAATATATATATAATATATA TATAATATATATATTATATATATTATATATATATAAAATATATATTATAT ATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp2 HG02055.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0072 a0001c0001t0001g0073	2	324	0.0062	306	c.457 others(321): Show c.457-757_457-756insTAATATATATATTATATATATATAATATAT ATATTATATATATATAATATATATATTATATATATATAATATATATATTA TATATATATAATATATATATTATATATATATAATATATATATTATATATA TATTATATATATATTATATATATATAATATATATATTATATATATATAAT ATATATATAATATATATATAATATATATATAATATATATATAATATATAT ATAATATATATATTATATATATTATATATATATAAAATATATATTATATA TATATAATATATATATTATATATATA	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATAC others(299): Show ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATAC GTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACAT ATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATAT ATACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGT GTATATATACATATATACGTATGTATGTGTATATATACATATATACGTAT GTATGTG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19088.hp2 NA18970.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0007 a0001c0008t0007 a0001c0001t0007 a0001c0008t0007	a0001c0001t0007g0220 a0001c0008t0007g0209 a0001c0001t0007g0220 a0001c0008t0007g0209	2	316	0.0063	306	c.273 others(323): Show c.273+4254_273+4255insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATATATGTATATATACACATACATA CGTATATATGTATATATACACATACATACGTATATATGTATATATACACA TACATACGTATATATGTATATATACACATACATACGTATATATGTATATA TACACATACATACGTATATATGTATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(299): Show TATATATATATATATATATATATATATATATATATACACTCATATATATA TATATACTCATATATATATATATATACTCATATATATATATATATATACT CATATATATATATACTCATATATATATATATATACTCATATATATATATA CTCATATATATATATATACTCATATATATATATACTCATATATATATATA CTCATATATATATATATACTCATATATATATATATACTCATATATATATA TACTCATATATATATATATATATATATACTCATATATATATATATATATA TATACTC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA20300.hp1 NA18991.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0136 a0002c0002t0003g0361 a0002c0002t0003g0136 a0002c0002t0003g0361	2	370	0.0054	306	c.232 others(327): Show c.2326-11590_2326-11589insTATATATATATATACACTCATATA TATATATATACTCATATATATATATATATACTCATATATATATATATATA TACTCATATATATATATACTCATATATATATATATATACTCATATATATA TATACTCATATATATATATATACTCATATATATATATACTCATATATATA TATACTCATATATATATATATACTCATATATATATATATACTCATATATA TATATACTCATATATATATATATATATATATACTCATATATATATATATA TATATATACTCATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(299): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0225 a0002c0003t0004g0225	1	424	0.0024	306	c.774 others(321): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCT TTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CD300E_chr17_74604885_74628738	74624067	T T	TAAAACAC others(299): Show TAAAACACCCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCG GGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGCCTCAAAAAAAA AAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0152 a0002c0004t0012g0152	1	450	0.0022	306	c.-44 others(315): Show c.-447_-446insTTTTTTTTTTTTTTTGAGGCGGAGTTTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACT ACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCGAGGGTGTTTT	CD300E	ENSG00000186407.7	transcript	ENST00000392619.2	protein_coding		330		chr17	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(299): Show TATATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 NA20805.hp1 HG01884.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	2	442	0.0045	306	c.27 others(317): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(299): Show TATATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01361.hp2 HG01433.hp2 HG00741.hp1 HG01361.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0001 a0001c0001t0001g0001 a0001c0001t0006g0001	3	442	0.0068	306	c.27 others(317): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATAC GCATACACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDH13_chr16_82621969_83805640	82794350	T T	TAAGAACA others(299): Show TAAGAACACTTTACACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01257.hp2 others(2): Show HG00738.hp1 HG01081.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0002t0021 a0001c0003t0032 others(1): Show a0001c0002t0001 a0001c0002t0021 a0001c0003t0032 a0001c0004t0003	a0001c0002t0001g0025 a0001c0002t0001g0097 a0001c0002t0021g0008 others(2): Show a0001c0002t0001g0025 a0001c0002t0001g0097 a0001c0002t0021g0008 a0001c0003t0032g0060 a0001c0004t0003g0096	5	110	0.0455	306	c.46- others(323): Show c.46-64000_46-63999insCACTTTGGGAGGCCGAGGCGGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAG CGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAACACTTTA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(299): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01257.hp1 HG01346.hp1 others(4): Show HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG02257.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0047 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0117 a0001c0001t0001g0146	7	388	0.0180	306	c.487 others(323): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(299): Show ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATAGAATATATATATATAGAATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	388	0.0026	306	c.487 others(323): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATAGAATATATATATATAGAATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(299): Show ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATAGAATATATATATAT AGAATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	388	0.0026	306	c.487 others(323): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATAGAATATATATATATAGAATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CFD_chr19_854664_868641	866617	G G	GCCAGCGC others(299): Show GCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCT CGCCAGCGCTCCCATCTCCTCCCTGTCCGCCCACCGCAGGCCCGCACCCC TCACCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCACACCC CTCACCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACC CCTCGCCAGCGCTCCCATCTCCTCCCTGTCCGCCCACCGCAGGCCCGCAC CCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCCACA CCCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	287	0.0035	306	c.33 others(317): Show c.3379_*3380insCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCG CGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCTGTCCGCCCACC GCAGGCCCGCACCCCTCACCAGCGCTCCCATGTCCTCCCCGTCCACCCGC CGCGGGCCCACACCCCTCACCAGCGCTCCCATGTCCTCCCCGTCCACCCG CCGCGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCTGTCCGCCC ACCGCAGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACC CGCCGCGGGCCCACACCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2977		chr19	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(299): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACACGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	372	0.0027	306	c.894 others(321): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACGTGTATATATAC ACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGTAT ATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(299): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATATA TACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	372	0.0027	306	c.894 others(321): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACGTGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(299): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACGTGTATATATACTCA TATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATATA TACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18971.hp1 NA18988.hp2 NA18950.hp2 NA18971.hp1 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0030 a0002c0002t0001g0119 a0002c0002t0001g0120	3	372	0.0081	306	c.894 others(321): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar

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Search Results (Total: 10000 hits)