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
ATXN7L1_chr7_105599772_105881599	105733678	C C	CCATCCAC others(197): Show CCATCCACCCATCCACCCATCCATCCATTCATCCATCCACCCATCCATCC ATCCACCCATCCATCCACCCAACCACCCATCCATCCACCCCTCCATCCGT CCATCCATCCACCCATCCATCCATCCACCCATCCACCCATTCATCCATCC ACCCATCCATCCATCCATCCATCCATCCATTCATCCATCCACCCATCCAT CCATT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01358.hp1 HG03942.hp2 others(1): Show HG01175.hp1 HG01358.hp1 HG03942.hp2 NA18950.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0003c0003t0020	a0001c0001t0001g0085 a0001c0001t0010g0051 a0001c0001t0015g0060 others(1): Show a0001c0001t0001g0085 a0001c0001t0010g0051 a0001c0001t0015g0060 a0003c0003t0020g0199	4	252	0.0159	204	c.355 others(223): Show c.355+54925_355+54926insAATGGATGGATGGGTGGATGGATGAA TGGATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGGATG GGTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGA TGGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATG AATGGATGGATGGGTGGATGGGTGGATG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(197): Show AGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGG GCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGC GTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	391	0.0026	204	c.36 others(215): Show c.3611_*3612insGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACG CGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCG TCCGGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82938846	T T	TGAGATTG others(197): Show TGAGATTGCTTCTCTGGTGAGGGAGCAGGTTGGTTAATAGCAGGTGAGAT TGCTTCTCTGGTGAAAACAGAGCAGGCGAGATTGCTTCTCTGGTGAGGGA GCAGGTTGGTTAATGGAGAGCAGGTGAGATTACTTCTCTGATGAAAAGAG AGCAGGCGAGATTGCTTCTCTGGTGAGGGAGCAGGTTGGTTAATAGATAG CGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG00741.hp2 others(23): Show HG00280.hp1 HG00733.hp1 HG00741.hp2 HG01081.hp1 HG01109.hp1 HG01192.hp1 HG01496.hp2 HG01516.hp1 HG02135.hp2 HG02155.hp2 HG02273.hp1 HG02630.hp1 HG03017.hp2 HG03492.hp2 HG03579.hp1 HG04199.hp2 NA18612.hp1 NA18944.hp1 NA18945.hp2 NA18951.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18973.hp2 NA18999.hp1 NA19090.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0014 a0005c0026	a0001c0001t0006 a0001c0001t0009 a0001c0002t0006 others(6): Show a0001c0001t0006 a0001c0001t0009 a0001c0002t0006 a0001c0003t0009 a0001c0006t0006 a0001c0006t0018 a0001c0006t0023 a0001c0014t0018 a0005c0026t0006	a0001c0001t0006g0153 a0001c0001t0006g0157 a0001c0001t0006g0159 others(23): Show a0001c0001t0006g0153 a0001c0001t0006g0157 a0001c0001t0006g0159 a0001c0001t0006g0164 a0001c0001t0006g0182 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0246 a0001c0002t0006g0070 a0001c0002t0006g0071 a0001c0002t0006g0107 a0001c0002t0006g0127 a0001c0002t0006g0128 a0001c0003t0009g0202 a0001c0003t0009g0204 a0001c0003t0009g0209 a0001c0003t0009g0210 a0001c0003t0009g0211 a0001c0003t0009g0220 a0001c0006t0006g0006 a0001c0006t0006g0038 a0001c0006t0006g0047 a0001c0006t0018g0015 a0001c0006t0023g0030 a0001c0014t0018g0049 a0005c0026t0006g0176	26	266	0.0977	204	c.52 others(215): Show c.5227_*5228insGCCCGCTATCTATTAACCAACCTGCTCCCTCACC AGAGAAGCAATCTCGCCTGCTCTCTTTTCATCAGAGAAGTAATCTCACCT GCTCTCCATTAACCAACCTGCTCCCTCACCAGAGAAGCAATCTCGCCTGC TCTGTTTTCACCAGAGAAGCAATCTCACCTGCTATTAACCAACCTGCTCC CTCACCAGAGAAGCAATCTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		3302		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83052800	G G	GACCCCAC others(197): Show GACCCCACCGTGAGGTCCCCCAGAAGGAGGGGTGCCCAGGAGTGAGACCC TGACCCCACCAGGAGGTCCCCCAGGAGGAGGGGTGCCCAGGAGTGAGGCC CTGACCCCACCGTGAGGTCCTCCAGGAGGAGGGGTGCCCAGGAGTGAGGC CCTGACCCCACCGTGAGGTCCTCCAGGAGGAGGGGTGCCCAGGAGTGAGG CCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02080.hp1 NA18944.hp1 others(1): Show HG00597.hp2 HG02080.hp1 NA18944.hp1 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0008 a0001c0002t0006 a0001c0002t0008	a0001c0002t0006g0127 a0001c0002t0008g0100 a0001c0002t0008g0101 others(1): Show a0001c0002t0006g0127 a0001c0002t0008g0100 a0001c0002t0008g0101 a0001c0002t0008g0102	4	266	0.0150	204	c.-10 others(215): Show c.-1050_-1049insGAGGGCCTCACTCCTGGGCACCCCTCCTCCTGGA GGACCTCACGGTGGGGTCAGGGCCTCACTCCTGGGCACCCCTCCTCCTGG AGGACCTCACGGTGGGGTCAGGGCCTCACTCCTGGGCACCCCTCCTCCTG GGGGACCTCCTGGTGGGGTCAGGGTCTCACTCCTGGGCACCCCTCCTTCT GGGGGACCTCACGGTGGGGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1031		chr17	TogoVar
B4GALNT3_chr12_454939_568509	545902	T T	TGAGAGGA others(197): Show TGAGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAG GTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGAGAGAGGAGTGGGGA GGTGAGGAGTGGGGAGGAGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAG GTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGA GGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02922.hp1 HG01109.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0091 a0001c0001t0020 a0001c0001t0091	a0001c0001t0020g0130 a0001c0001t0091g0232 a0001c0001t0020g0130 a0001c0001t0091g0232	2	394	0.0051	204	c.639 others(219): Show c.639+436_639+437insAGGAGTGGGGAGATGAGAGGAGTGGGGAGG TGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAG GAGAGAGGAGTGGGGAGGTGAGGAGTGGGGAGGAGCGAGGAGTGGGGAGG TGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAG GTGCGAGGAGTGGGGAGGTGAGAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	364641	C C	CCACCTGG others(197): Show CCACCTGGGTGTGGGAGGCCAGGCCTGCACGACAGGTGCAAAGGCAGGTC CTCACCTGGGTGTGGGAGGCCAGGCCTGCACGACAGGTGCAAAGGCAGGT CCTCACCTGGGTGTGGGAGGCCAGGCCTGCACGACAGGTGCAAAGGCAGG TCCTCACCTGGGTGTGGGAGGCCAGGCCTGCACGACAGGTGCAAAGGCAG GTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0002 a0001c0023t0002	a0001c0023t0002g0041 a0001c0023t0002g0041	1	184	0.0054	204	c.-51 others(215): Show c.-5163_-5162insCACCTGGGTGTGGGAGGCCAGGCCTGCACGACAG GTGCAAAGGCAGGTCCTCACCTGGGTGTGGGAGGCCAGGCCTGCACGACA GGTGCAAAGGCAGGTCCTCACCTGGGTGTGGGAGGCCAGGCCTGCACGAC AGGTGCAAAGGCAGGTCCTCACCTGGGTGTGGGAGGCCAGGCCTGCACGA CAGGTGCAAAGGCAGGTCCT	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		4857		chr11	TogoVar
B4GALNT4_chr11_364499_387117	375125	A A	AAGGGAGG others(197): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0139	1	184	0.0054	204	c.784 others(219): Show c.784-325_784-324insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGA others(197): Show GAGGGGGAGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGGGGAGGGAGGG GGAGGGGGAGGGGGAGGGGGAAGGAGAGGGGGGATGGGGATGGGGGAGGG GGAGGGGGAGGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGG GAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACT GGGGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	298	0.0034	204	c.51+ others(217): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCATCCCCATCCCCCCTCTC CTTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCT CCCTCCCCCTCCCCCTCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(197): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGATGGGGATGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG GAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGAGGGAGAGGGGGAGG GAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACT GGGGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0009 a0001c0005t0005g0009	1	298	0.0034	204	c.51+ others(217): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCTCTCCCC CTCCCCTCCCCCCTCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCATCCCCATCCCCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCC TCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(197): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGATGGGGATGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGG GAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACT GGGGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp1 HG03453.hp1 others(1): Show HG02630.hp1 HG02922.hp1 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 others(1): Show a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022	4	298	0.0134	204	c.51+ others(217): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCATCCCCATCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCC TCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BICD1_chr12_32101847_32388633	32252117	A A	ATATATTT others(197): Show ATATATTTATAATAAATATTATATATTATATATTTATAATAAATATTATA TATTATATATTTATAATAAATATTATATATTATATATTTATTATAAATAT TATATATTATATATTTATAATAAATATTATATATTATATATTATATTTAT AATAAATATTATATATTATATATTATATTTATAATAAATATTATATATTA TATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02809.hp1 HG03225.hp1 others(2): Show HG01496.hp1 HG02809.hp1 HG03225.hp1 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0060 a0001c0002t0003 a0001c0002t0037 others(1): Show a0001c0001t0060 a0001c0002t0003 a0001c0002t0037 a0001c0002t0046	a0001c0001t0060g0244 a0001c0002t0003g0148 a0001c0002t0003g0168 others(2): Show a0001c0001t0060g0244 a0001c0002t0003g0148 a0001c0002t0003g0168 a0001c0002t0037g0095 a0001c0002t0046g0262	5	290	0.0172	204	c.426 others(223): Show c.426+35691_426+35692insTATAATAAATATTATATATTATATAT TTATAATAAATATTATATATTATATATTTATTATAAATATTATATATTAT ATATTTATAATAAATATTATATATTATATATTATATTTATAATAAATATT ATATATTATATATTATATTTATAATAAATATTATATATTATATATTATAT TTATAATAAATATTATATATTATATATT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRF1_chr14_105204286_105306001	105229625	C C	CAGTCGCC others(197): Show CAGTCGCCCAGCTGGGGACGGGGGACAGCCTGACAGCCCCGTGGCACCCT CAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTATCCG CGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCCGTGGCACC CTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTATC CGCGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	72	0.0139	204	c.695 others(219): Show c.695-713_695-712insACGCGGATAGTGGTGTGGCCTCTCTCTCCT GAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTC CCCCGCCCCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTC CTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTG TCCCCCGTCCCCAGCTGGGCGACT	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105229822	G G	GTCCGCGT others(197): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	72	0.0139	204	c.695 others(219): Show c.695-910_695-909insTAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCC CCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105230167	G G	GCAGCCCC others(197): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	72	0.0139	204	c.695 others(221): Show c.695-1255_695-1254insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105230779	G G	GCAGCCCC others(197): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	72	0.0139	204	c.695 others(221): Show c.695-1867_695-1866insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105231085	G G	GCAGCCCC others(197): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	72	0.0139	204	c.695 others(221): Show c.695-2173_695-2172insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105231187	G G	GCAGCCCC others(197): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	72	0.0139	204	c.695 others(221): Show c.695-2275_695-2274insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105231704	C C	CGTGGCAC others(197): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACA GCCCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0061 a0001c0002t0005g0061	1	72	0.0139	204	c.695 others(221): Show c.695-2792_695-2791insAGGGCTGTCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCC CAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105232149	A A	AGAGCAGC others(197): Show AGAGCAGCGGTGCTCACTGTGTGCGGGGGACAGCCTGAGCAGCCACGTGT CACCCTCAGGAGCAACAACCTACACAACGTCAGGAAGATGAGGCGGCCAC ACCTACTGTCCCCCCCCGTGCGTATACCCCTCTGTGTGCGGGGGACAGCC TGCGCCAGCCCCGTAGGCACCCTCAGGAGCTTACAAACCTAGCATTCTCA GGGAG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	72	0.0139	204	c.695 others(221): Show c.695-3237_695-3236insCTCCCTGAGAATGCTAGGTTTGTAAGCT CCTGAGGGTGCCTACGGGGCTGGCGCAGGCTGTCCCCCGCACACAGAGGG GTATACGCACGGGGGGGGACAGTAGGTGTGGCCGCCTCATCTTCCTGACG TTGTGTAGGTTGTTGCTCCTGAGGGTGACACGTGGCTGCTCAGGCTGTCC CCCGCACACAGTGAGCACCGCTGCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105233596	G G	GTCCGCGT others(197): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	72	0.0139	204	c.695 others(221): Show c.695-4684_695-4683insTAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105234553	G G	GCAGCCCC others(197): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0063 a0001c0001t0006g0063	1	72	0.0139	204	c.695 others(221): Show c.695-5641_695-5640insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105235165	G G	GCAGCCCC others(197): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	72	0.0139	204	c.694 others(221): Show c.694+6099_694+6100insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105235172	T T	TGTGGCAC others(197): Show TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGTGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGC CCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGTGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	72	0.0139	204	c.694 others(221): Show c.694+6092_694+6093insGGGGCTGCCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACACGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCC CAGCTGGGCGACTACACGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105235254	G G	GGGGGACA others(197): Show GGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCA TCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGG GCGGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTA GCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTG GGGGC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	72	0.0139	204	c.694 others(221): Show c.694+6010_694+6011insGCCCCCAGCTGGGCGACTACGCGGACAG TGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGC CACGGGGCTGCCAGGCTGTCCCCCCGCCCCCAGCTGGGCGACTACGCGGA CAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGG TGCCACGGGGCTGCCAGGCTGTCCCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105235942	G G	GTCCGCGT others(197): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	72	0.0139	204	c.694 others(221): Show c.694+5322_694+5323insTAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105236389	A A	ACAGCCCC others(197): Show ACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	72	0.0139	204	c.694 others(221): Show c.694+4875_694+4876insCCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105237075	G G	GCCCAGCT others(197): Show GCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGA GCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAG TCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAG GAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGT AGTCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	72	0.0139	204	c.694 others(221): Show c.694+4189_694+4190insTGACTACGCGGACAGTGGTGTGGCCTCT CTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCA GGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCT CTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGC CAGGCTGTCCCCCGCCCCCAGCTGGG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105237204	G G	GCAGCCCC others(197): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	72	0.0139	204	c.694 others(221): Show c.694+4060_694+4061insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238083	G G	GTCCGCGT others(197): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	72	0.0139	204	c.694 others(221): Show c.694+3181_694+3182insTAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238326	G G	GCAGCCCC others(197): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	72	0.0139	204	c.694 others(221): Show c.694+2938_694+2939insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239244	G G	GCAGCCCC others(197): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCAGGGGACAG CCTGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	72	0.0139	204	c.694 others(221): Show c.694+2020_694+2021insTCAGGCTGTCCCCTGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239409	G G	GTCCGCGT others(197): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	72	0.0139	204	c.694 others(221): Show c.694+1855_694+1856insTAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239455	T T	TGTGGCAC others(197): Show TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGC CCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	72	0.0139	204	c.694 others(221): Show c.694+1809_694+1810insGGGGCTGCCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCC CAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRIP1_chr17_61674139_61868528	61716776	C C	CCCATATT others(197): Show CCCATATTATTTCCACTACTGGAAATAATATGCTTCCATATTATTTCCAC TACTGGAAATAATATGCTTCCATATTATTTCCACTACTGGAAATAATATG CTTCCATATTATTTCCACTACTGGAAATAATATGCTTCCATATTATTTCC ACTACTGGAAATAATATGCTTCCATATTATTTCCACTACTGGAAATAATA TGCTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA21309.hp1 HG00639.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0034 a0001c0001t0002 a0001c0001t0034	a0001c0001t0002g0094 a0001c0001t0034g0084 a0001c0001t0002g0094 a0001c0001t0034g0084	2	266	0.0075	204	c.238 others(221): Show c.2380-714_2380-713insAAGCATATTATTTCCAGTAGTGGAAATA ATATGGAAGCATATTATTTCCAGTAGTGGAAATAATATGGAAGCATATTA TTTCCAGTAGTGGAAATAATATGGAAGCATATTATTTCCAGTAGTGGAAA TAATATGGAAGCATATTATTTCCAGTAGTGGAAATAATATGGAAGCATAT TATTTCCAGTAGTGGAAATAATATGG	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	16/19			chr17	TogoVar
C2orf80_chr2_208160347_208195030	208176905	C C	CTGTATAC others(197): Show CTGTATACATATCTGTATATACATATCTGTATACATATCTGTATATACAT ATCTGTATACATATGTATATACATATCTGTATACATATGTATACATATCT GTATACATATGTATATACATATCTGTATACATATGTATATACATATCTGT ATACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATAT ACATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00733.hp2 others(2): Show HG00099.hp1 HG00323.hp1 HG00733.hp2 HG03490.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0202 others(2): Show a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0202 a0001c0001t0002g0317 a0002c0002t0001g0319	5	342	0.0146	204	c.366 others(221): Show c.366+3839_366+3840insTATGTATATACAGATATGTATACACATA TGTATACAGATATGTATACATATGTATACAGATATGTATATACATATGTA TACAGATATGTATATACATATGTATACAGATATGTATACATATGTATACA GATATGTATATACATATGTATACAGATATGTATATACAGATATGTATACA GATATGTATATACAGATATGTATACA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CACNA1A_chr19_13201442_13511479	13331089	C C	CTAACTAT others(197): Show CTAACTATTAGGCGTATTTCCTTGGGGATAATTATAGGATCAAAGATATT AACAGCTTTTCAACTCATTATTCAAAGAGCCATTCTGAGTTTCAAAAACA TGGAACCCATTTATAAACCTGCCAAGTATGCATATGTTCATGGATTCCCC ACCCAGGCCATCGAATATTACCAATTTAATTTCCTTTCCCAGTTAAGTGG GTTTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0099 a0001c0099	a0001c0099t0012 a0001c0099t0012	a0001c0099t0012g0029 a0001c0099t0012g0029	1	218	0.0046	204	c.125 others(221): Show c.1256-757_1256-756insCAAACCCACTTAACTGGGAAAGGAAATT AAATTGGTAATATTCGATGGCCTGGGTGGGGAATCCATGAACATATGCAT ACTTGGCAGGTTTATAAATGGGTTCCATGTTTTTGAAACTCAGAATGGCT CTTTGAATAATGAGTTGAAAAGCTGTTAATATCTTTGATCCTATAATTAT CCCCAAGGAAATACGCCTAATAGTTA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	9/46			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2520198	A A	ACCAATGG others(197): Show ACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCA TTGACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTC ATTGC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0025 a0003c0035t0025	a0003c0035t0025g0078 a0003c0035t0025g0078	1	104	0.0096	204	c.139 others(223): Show c.1390+7264_1390+7265insACCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520198	A A	ACCAATGG others(197): Show ACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCA TTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTC ATTGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02257.hp1 others(11): Show HG01891.hp1 HG02145.hp2 HG02257.hp1 HG02451.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 NA18989.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0011 a0001c0032 a0001c0038	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0002t0029 a0001c0003t0001 a0001c0003t0009 a0001c0003t0037 a0001c0010t0003 a0001c0011t0014 a0001c0011t0030 a0001c0032t0031 a0001c0038t0041	a0001c0001t0001g0088 a0001c0001t0004g0005 a0001c0001t0005g0042 others(11): Show a0001c0001t0001g0088 a0001c0001t0004g0005 a0001c0001t0005g0042 a0001c0001t0005g0097 a0001c0001t0013g0024 a0001c0002t0029g0037 a0001c0003t0001g0009 a0001c0003t0009g0085 a0001c0003t0037g0003 a0001c0010t0003g0054 a0001c0011t0014g0007 a0001c0011t0030g0039 a0001c0032t0031g0103 a0001c0038t0041g0047	14	104	0.1346	204	c.139 others(223): Show c.1390+7264_1390+7265insACCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185867	C C	CGTAGGGG others(197): Show CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTG CGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATG TGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG CATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGGCGGGCGAGTAGACGG CATGT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0071 a0002c0007t0003g0071	1	338	0.0030	204	c.300 others(221): Show c.300-9074_300-9073insAGGTGAGTAGACGGCGTGCGTAGGGGCC GGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGG GCCGGGGGCGGGGTACGTGGGGGGGCGGGCGAGTAGACGGCATGTGTAGG GGCCGGAGGCGGGGTGTGTACGGGGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(197): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGGAG GGGAGTGGGGACGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAATGGGAG GAGGA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0126 a0001c0011t0006g0126	1	340	0.0029	204	c.104 others(223): Show c.1045+2187_1045+2188insTCCTCCTCCCATTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCGTCCCCACTCCCCTCCCCCACTCCCGTCCCCAC TCCCCTCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCC CACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTC CCCTTCCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP2_chr1_200733893_200865704	200816963	T T	TGTGTATG others(197): Show TGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACG CGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACA CGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACA CACGCGTGTGTATGTGTGCACACACACGCGTGTGTATGTGTGTACACACA CACGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	366	0.0027	204	c.645 others(221): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGCACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	6984090	G G	GTGAGTGG others(197): Show GTGAGTGGATAGGTGGATAGAGGGTTGGGTGGGTGGATGGATGAGTAGGT GGATGGGTGGATAGGTGGATGGATGAATGGATGATGGGTGGATGGATGGG TGGATAGATGGATGGGTGGGTAGATGGATGGGTAGGTGGATGTGTGGATA GATGGATGGATGAATGGATGGTTGGGTGGATGGATGGGTTGGATGAGTGA ACCGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00735.hp1 others(55): Show HG00558.hp1 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 NA18999.hp1 NA18999.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0015 a0001c0016 a0001c0017 a0002c0004 a0003c0012 a0004c0014 a0005c0013 a0006c0007 a0007c0008 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0003t0001 a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0001c0003t0023 a0001c0005t0005 a0001c0005t0009 a0001c0006t0001 a0001c0006t0005 a0001c0009t0019 a0001c0010t0004 a0001c0015t0006 a0001c0016t0024 a0001c0017t0026 a0002c0004t0011 a0002c0004t0017 a0002c0004t0018 a0003c0012t0022 a0004c0014t0001 a0005c0013t0009 a0006c0007t0014 a0007c0008t0007 a0008c0011t0016	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 others(55): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0036 a0001c0001t0002g0046 a0001c0001t0003g0022 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0004g0026 a0001c0001t0004g0034 a0001c0001t0005g0038 a0001c0001t0007g0021 a0001c0001t0008g0003 a0001c0001t0011g0058 a0001c0001t0012g0019 a0001c0001t0012g0051 a0001c0001t0013g0054 a0001c0001t0013g0056 a0001c0001t0015g0037 a0001c0001t0020g0049 a0001c0001t0021g0014 a0001c0001t0025g0052 a0001c0002t0001g0020 a0001c0002t0002g0016 a0001c0002t0003g0006 a0001c0002t0003g0025 a0001c0002t0004g0030 a0001c0002t0006g0008 a0001c0002t0010g0010 a0001c0003t0001g0004 a0001c0003t0001g0012 a0001c0003t0005g0028 a0001c0003t0008g0032 a0001c0003t0010g0035 a0001c0003t0023g0045 a0001c0005t0005g0044 a0001c0005t0009g0050 a0001c0006t0001g0055 a0001c0006t0005g0057 a0001c0009t0019g0039 a0001c0010t0004g0031 a0001c0015t0006g0043 a0001c0016t0024g0053 a0001c0017t0026g0027 a0002c0004t0011g0005 a0002c0004t0017g0042 a0002c0004t0018g0015 a0003c0012t0022g0017 a0004c0014t0001g0041 a0005c0013t0009g0033 a0006c0007t0014g0018 a0007c0008t0007g0023 a0008c0011t0016g0029	58	58	1.0000	204	c.235 others(225): Show c.235-107212_235-107211insAGTGGATAGGTGGATAGAGGGTTG GGTGGGTGGATGGATGAGTAGGTGGATGGGTGGATAGGTGGATGGATGAA TGGATGATGGGTGGATGGATGGGTGGATAGATGGATGGGTGGGTAGATGG ATGGGTAGGTGGATGTGTGGATAGATGGATGGATGAATGGATGGTTGGGT GGATGGATGGGTTGGATGAGTGAACCGATG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CANT1_chr17_78986716_79014764	79004652	G G	GGAGAGGA others(197): Show GGAGAGGACAGTTAGGGAGAGGAGTTAGGGAGGGGGGAGTTAGGGAGGGG AGTTAGGGAGAGGGGAGTTAGGGAGAGGGAGGTTAGGGAGGGGAGTTAGG GAGAGGGGGGTTAGGGAGAGGGGGGTTAGGGAGAAGGGAGTTAGGGAGGG GAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTAGGGAGAGGAGTTAA GGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0251 a0001c0001t0004g0251	1	394	0.0025	204	c.-14 others(223): Show c.-147+5011_-147+5012insTCTCCTTAACTCCTCTCCCTAACTCC CCCCTCCCTAACTCCCCTCTCCCTAACTCCCCTCCCTAACTCCCTTCTCC CTAACCCCCCTCTCCCTAACCCCCCTCTCCCTAACTCCCCTCCCTAACCT CCCTCTCCCTAACTCCCCTCTCCCTAACTCCCCTCCCTAACTCCCCCCTC CCTAACTCCTCTCCCTAACTGTCCTCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAGGAA others(197): Show AAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGGAGAAGGA GAAGG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	364	0.0028	204	c.234 others(221): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761464	G G	GGGAAGGG others(197): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAG GAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAA GGAGA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	364	0.0028	204	c.234 others(221): Show c.234+6843_234+6844insTCTCCTTCTCCTTCTCCTTCTCCTTCTT CTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761467	A A	AAGGGGAA others(197): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAGGAG AAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGA GAAGG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	364	0.0028	204	c.234 others(221): Show c.234+6840_234+6841insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761470	A A	AAGGGCAA others(197): Show AAGGGCAACAGAATAAGACTCAGTCAAAAAAAAAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAG GAAGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0007 a0002c0003t0010g0007	1	364	0.0028	204	c.234 others(221): Show c.234+6837_234+6838insCCTTCCTCTTCCTCTCCTTCTCCTTCTC CTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTTTTT TTGACTGAGTCTTATTCTGTTGCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC141_chr2_178824757_179055137	179015551	C C	CATATATC others(197): Show CATATATCTCATATATATGATATATATCTCATATATCTCATATATATGAT ATATATATCTCATATATCTCATATATATGATATATATATCTCATATATCT CATATATATAATATATATATCTCATATATCTCATATATATGATATATATC TCATATATCTCATATATATGATATATATCTCATATATATGATATATATAT CTCAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0015 a0009c0025t0015	a0009c0025t0015g0240 a0009c0025t0015g0240	1	274	0.0037	204	c.225 others(223): Show c.225+31732_225+31733insATGAGATATATATATCATATATATGA GATATATATCATATATATGAGATATATGAGATATATATCATATATATGAG ATATATGAGATATATATATTATATATATGAGATATATGAGATATATATAT CATATATATGAGATATATGAGATATATATATCATATATATGAGATATATG AGATATATATCATATATATGAGATATAT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC183_chr9_136791338_136812741	136802834	G G	GGATCTTC others(197): Show GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCC CTCTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	398	0.0025	204	c.666 others(217): Show c.666+88_666+89insCGGGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136802875	T T	TGGGGGCC others(197): Show TGGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0335 a0001c0001t0002g0335	1	398	0.0025	204	c.666 others(219): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar

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Search Results (Total: 10000 hits)