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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATP2B1_chr12_89583049_89713838	89677954	T T	TTATATAT others(35): Show TTATATATATATATGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	332	0.0030	42	c.-22 others(63): Show c.-221-21848_-221-21847insCATATATATATATATATATATATA TATACATATATATATATA		ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20						chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737114	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03225.hp2 HG03453.hp2 others(1): Show HG02896.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0013 a0002c0012 others(1): Show a0001c0005 a0001c0013 a0002c0012 a0002c0049	a0001c0005t0005 a0001c0013t0001 a0002c0012t0004 others(1): Show a0001c0005t0005 a0001c0013t0001 a0002c0012t0004 a0002c0049t0006	a0001c0005t0005g0067 a0001c0013t0001g0181 a0002c0012t0004g0346 others(1): Show a0001c0005t0005g0067 a0001c0013t0001g0181 a0002c0012t0004g0346 a0002c0049t0006g0044	4	376	0.0106	42	c.157 others(61): Show c.1572+2425_1572+2426insTATATATATATATATATATATATATA TATATATATATATATA		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21						chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737115	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02074.hp1 HG02630.hp1 others(3): Show HG02027.hp1 HG02074.hp1 HG02630.hp1 HG02818.hp2 HG02886.hp1 NA19082.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0007 a0001c0008 a0003c0004 others(2): Show a0001c0007 a0001c0008 a0003c0004 a0004c0011 a0007c0026	a0001c0007t0001 a0001c0008t0002 a0003c0004t0002 others(3): Show a0001c0007t0001 a0001c0008t0002 a0003c0004t0002 a0003c0004t0008 a0004c0011t0001 a0007c0026t0001	a0001c0007t0001g0055 a0001c0008t0002g0100 a0003c0004t0002g0354 others(3): Show a0001c0007t0001g0055 a0001c0008t0002g0100 a0003c0004t0002g0354 a0003c0004t0008g0068 a0004c0011t0001g0273 a0007c0026t0001g0003	6	376	0.0160	42	c.157 others(61): Show c.1572+2424_1572+2425insATATATATATATATATATATATATAT ATATATATATATATAT		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21						chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86148034	T T	TCCCTCTT others(35): Show TCCCTCTTCTGGCCTGGACTCTGCTGTTTGCCAGTCTGCAATG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	360	0.0028	42	c.640 others(59): Show c.640-2076_640-2035dupCCTCTTCTGGCCTGGACTCTGCTGTTTG CCAGTCTGCAATGC		ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(35): Show CCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0010 a0001c0003t0008g0010	1	122	0.0082	42	c.77- others(57): Show c.77-3226_77-3225insCCTCCCTCCCTCCCTCTCTCTCTCTCTCTC TCTCTCTTTCTC		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57712048	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	314	0.0032	42	c.182 others(59): Show c.182-5462_182-5461insATATATATATATATATATATATATATAT ATATATATATATAT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27						chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50085960	T T	TATATATG others(35): Show TATATATGATATATATCATATATATATATATATGATATATATC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	254	0.0039	42	c.29- others(59): Show c.29-11776_29-11775insGATATATATCATATATATATATATATGA TATATATCATATAT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50085960	T T	TATATATG others(35): Show TATATATGATATATATCATATATATTTATATATGATATATATC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0150 a0001c0001t0030g0150	1	254	0.0039	42	c.29- others(59): Show c.29-11776_29-11775insGATATATATCATATATAAATATATATGA TATATATCATATAT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
ATP9A_chr20_51591514_51773390	51636654	T T	TCCCCTCA others(35): Show TCCCCTCAATTCCAGCTGTGTGAACTTGGACAGGTTTCCCAGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG03486.hp2 others(3): Show HG02258.hp1 HG02630.hp1 HG03486.hp2 NA18522.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0039 a0001c0001t0066 a0001c0003t0015 others(1): Show a0001c0001t0039 a0001c0001t0066 a0001c0003t0015 a0001c0003t0031	a0001c0001t0039g0122 a0001c0001t0066g0117 a0001c0003t0015g0121 others(3): Show a0001c0001t0039g0122 a0001c0001t0066g0117 a0001c0003t0015g0121 a0001c0003t0015g0138 a0001c0003t0015g0151 a0001c0003t0031g0120	6	312	0.0192	42	c.166 others(61): Show c.1668+2688_1668+2689insGCTGGGAAACCTGTCCAAGTTCACAC AGCTGGAATTGAGGGG		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27						chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	298	0.0034	42	c.119 others(59): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(35): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0039 a0001c0002t0004g0039	1	128	0.0078	42	c.317 others(63): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(35): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00544.hp2 HG00673.hp2 HG03942.hp2 others(15): Show HG00544.hp2 HG00673.hp2 HG03942.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18968.hp2 NA18970.hp1 NA18979.hp2 NA18984.hp2 NA18986.hp2 NA18995.hp2 NA18998.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1	a0006 a0006	a0006c0005 a0006c0051 a0006c0005 a0006c0051	a0006c0005t0001 a0006c0005t0002 a0006c0005t0004 others(3): Show a0006c0005t0001 a0006c0005t0002 a0006c0005t0004 a0006c0005t0016 a0006c0005t0060 a0006c0051t0073	a0006c0005t0001g0003 a0006c0005t0001g0063 a0006c0005t0001g0069 others(13): Show a0006c0005t0001g0003 a0006c0005t0001g0063 a0006c0005t0001g0069 a0006c0005t0001g0075 a0006c0005t0001g0217 a0006c0005t0002g0065 a0006c0005t0002g0073 a0006c0005t0002g0078 a0006c0005t0004g0002 a0006c0005t0004g0051 a0006c0005t0004g0052 a0006c0005t0004g0057 a0006c0005t0004g0084 a0006c0005t0016g0070 a0006c0005t0060g0088 a0006c0051t0073g0116	18	402	0.0448	42	c.916 others(49): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGC	p.Gly others(54): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361			chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(35): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp1 HG00639.hp2 HG00741.hp1 others(13): Show HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp1 HG02572.hp2 HG02818.hp1 HG03491.hp1 HG03540.hp1 HG03927.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0007 a0042 a0007 a0042	a0007c0010 a0007c0017 a0042c0052 a0007c0010 a0007c0017 a0042c0052	a0007c0010t0006 a0007c0010t0007 a0007c0010t0019 others(8): Show a0007c0010t0006 a0007c0010t0007 a0007c0010t0019 a0007c0010t0024 a0007c0010t0051 a0007c0010t0052 a0007c0010t0053 a0007c0017t0003 a0007c0017t0017 a0007c0017t0110 a0042c0052t0014	a0007c0010t0006g0377 a0007c0010t0006g0381 a0007c0010t0007g0331 others(13): Show a0007c0010t0006g0377 a0007c0010t0006g0381 a0007c0010t0007g0331 a0007c0010t0019g0151 a0007c0010t0024g0124 a0007c0010t0024g0126 a0007c0010t0024g0127 a0007c0010t0051g0125 a0007c0010t0052g0207 a0007c0010t0053g0123 a0007c0017t0003g0135 a0007c0017t0003g0362 a0007c0017t0003g0370 a0007c0017t0017g0138 a0007c0017t0110g0140 a0042c0052t0014g0112	16	402	0.0398	42	c.915 others(49): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAG	p.Gln others(55): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTGT others(35): Show GTGTGTGTATGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0219	1	252	0.0040	42	c.578 others(57): Show c.578+490_578+491insTATATATATATATATATATATATATATACA CACATACACACA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTGT others(35): Show GTGTGTGTATGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02027.hp1 HG02056.hp2 others(3): Show HG01358.hp1 HG02027.hp1 HG02056.hp2 HG02280.hp1 NA18948.hp1 NA19074.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0023 a0001c0001t0037 a0003c0003t0020	a0001c0001t0002g0177 a0001c0001t0006g0001 a0001c0001t0009g0141 others(3): Show a0001c0001t0002g0177 a0001c0001t0006g0001 a0001c0001t0009g0141 a0001c0001t0023g0183 a0001c0001t0037g0065 a0003c0003t0020g0199	6	252	0.0238	42	c.578 others(57): Show c.578+490_578+491insTATATATATATATATATATATATATACACA CACATACACACA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	252	0.0040	42	c.578 others(57): Show c.578+490_578+491insTATATATATATATATATATATATATATATA TACACACACACA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(35): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02129.hp2 HG02818.hp2 others(13): Show HG02027.hp2 HG02129.hp2 HG02818.hp2 HG03098.hp1 HG03491.hp1 NA18522.hp2 NA18971.hp2 NA18995.hp2 NA19000.hp2 NA19009.hp1 NA19010.hp2 NA19056.hp1 NA19079.hp2 NA19087.hp1 NA19091.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0018 a0001c0001t0039 a0001c0001t0054 a0001c0001t0062 a0002c0002t0032	a0001c0001t0001g0163 a0001c0001t0001g0225 a0001c0001t0002g0049 others(13): Show a0001c0001t0001g0163 a0001c0001t0001g0225 a0001c0001t0002g0049 a0001c0001t0002g0153 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0030 a0001c0001t0003g0238 a0001c0001t0004g0023 a0001c0001t0004g0135 a0001c0001t0011g0143 a0001c0001t0018g0046 a0001c0001t0039g0180 a0001c0001t0054g0087 a0001c0001t0062g0007 a0002c0002t0032g0149	16	252	0.0635	42	c.355 others(61): Show c.355+56855_355+56856insCTTTTCTTTTCTTTTCTCTTTTCTTT TCTTTTCTTTTCTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
AURKB_chr17_8199734_8215575	8214581	G G	GATATATA others(35): Show GATATATATATATATATATATACATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	428	0.0023	42	c.-40 others(53): Show c.-4078_-4077insATATATATATATATATATATGTATATATATATAT ATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4007		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03669.hp1 HG03195.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	428	0.0047	42	c.-41 others(53): Show c.-4104_-4103insGTGTGTGTGTGTGTATATATATATATATATATAT ATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG01109.hp1 others(5): Show HG00323.hp1 HG00597.hp2 HG01109.hp1 HG01981.hp2 HG02897.hp1 NA18959.hp2 NA18960.hp1 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0086 a0002c0002t0001g0014	8	428	0.0187	42	c.-41 others(53): Show c.-4104_-4103insGTGTGTGTGTGTATATATATATATATATATATAT ATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01106.hp1 HG01255.hp2 others(4): Show HG00280.hp2 HG01106.hp1 HG01255.hp2 HG02083.hp2 HG02280.hp2 HG03669.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0074	7	428	0.0164	42	c.-41 others(53): Show c.-4104_-4103insGTGTGTGTGTATATATATATATATATATATATAT ATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AUTS2_chr7_69593475_70798506	70426881	T T	TATTTTAA others(35): Show TATTTTAACCCATAACATACTTTTCCTTTTTACTCATCAGCAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19240.hp1 HG01884.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0062 a0001c0001t0010g0065 a0001c0001t0002g0062 a0001c0001t0010g0065	2	76	0.0263	42	c.661 others(59): Show c.661-8866_661-8825dupTAACCCATAACATACTTTTCCTTTTTAC TCATCAGCAAATTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
B3GALT5_chr21_39607940_39678137	39639446	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0131 a0001c0004t0002g0131	1	336	0.0030	42	c.-39 others(61): Show c.-391-6937_-391-6936insCTTTCTTTCTTTTTTTCTTTCTCTCT CTCTCTCTCTTTCTTT		B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GLCT_chr13_31194975_31337276	31196186	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0015 a0001c0001t0007g0015	1	268	0.0037	42	c.-38 others(53): Show c.-3899_-3898insATATATATATATATATATATATATATATATATAT ATATATAT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3788		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0028 a0001c0001t0007g0028	1	268	0.0037	42	c.-38 others(53): Show c.-3878_-3877insTATATATATATATATATATATATATATATATATA TATATTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03927.hp2 HG03098.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0115 a0001c0001t0001g0069 a0001c0001t0001g0115	2	268	0.0075	42	c.106 others(61): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATATATATATATATA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B4GALNT3_chr12_454939_568509	459904	C C	CGGGGCGG others(35): Show CGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA19066.hp1 NA18947.hp1 NA19066.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0007 a0002c0003t0001 a0002c0003t0007	a0002c0003t0001g0159 a0002c0003t0007g0156 a0002c0003t0001g0159 a0002c0003t0007g0156	2	394	0.0051	42	c.-47 others(51): Show c.-473_-472insGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCG GGGGCG		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding					34		chr12	TogoVar
B4GALNT3_chr12_454939_568509	459920	G G	GCGGGGGC others(35): Show GCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0282 a0001c0001t0016g0282	1	394	0.0025	42	c.-45 others(51): Show c.-457_-456insCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGG CGGGGC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding					18		chr12	TogoVar
B4GALNT3_chr12_454939_568509	511717	C C	CACCTTCG others(35): Show CACCTTCGACCTTCCGCCTTCCGCCTTCCGCCTTCCACCTTCT	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA19056.hp2 HG01516.hp1 NA19056.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0005 a0003c0004t0003 a0001c0002t0005 a0003c0004t0003	a0001c0002t0005g0075 a0003c0004t0003g0134 a0001c0002t0005g0075 a0003c0004t0003g0134	2	394	0.0051	42	c.170 others(61): Show c.170-23449_170-23448insACCTTCGACCTTCCGCCTTCCGCCTT CCGCCTTCCACCTTCT		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19						chr12	TogoVar
B4GALNT3_chr12_454939_568509	543299	C C	CCTCCCGG others(35): Show CCTCCCGGAGCTGAGGAGCTGGGATGGGCATGGGGTGGTCACG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18994.hp2 NA18982.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0105 a0001c0001t0004g0106	2	394	0.0051	42	c.352 others(58): Show c.352-1017_352-976dupATGGGCATGGGGTGGTCACGCTCCCGGAG CTGAGGAGCTGGG		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	543598	T T	TGGAGCTG others(35): Show TGGAGCTGAGGAGCTGGGGCGGGCATGGGGTGCTCATCTTCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01081.hp2 others(30): Show HG00408.hp2 HG00639.hp1 HG01081.hp2 HG01168.hp2 HG01175.hp1 HG01361.hp1 HG01891.hp1 HG01928.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03710.hp1 HG04115.hp2 NA18522.hp2 NA18612.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18962.hp1 NA18967.hp2 NA18993.hp1 NA18997.hp2 NA19043.hp2 NA19054.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0004 a0005 a0009 others(2): Show a0004 a0005 a0009 a0026 a0027	a0004c0005 a0004c0027 a0004c0028 others(5): Show a0004c0005 a0004c0027 a0004c0028 a0005c0006 a0005c0017 a0009c0009 a0026c0024 a0027c0026	a0004c0005t0002 a0004c0005t0003 a0004c0005t0004 others(25): Show a0004c0005t0002 a0004c0005t0003 a0004c0005t0004 a0004c0005t0009 a0004c0005t0011 a0004c0005t0017 a0004c0005t0043 a0004c0027t0078 a0004c0028t0004 a0005c0006t0001 a0005c0006t0002 a0005c0006t0003 a0005c0006t0004 a0005c0006t0007 a0005c0006t0008 a0005c0006t0011 a0005c0006t0033 a0005c0006t0035 a0005c0006t0063 a0005c0006t0093 a0005c0017t0001 a0005c0017t0002 a0009c0009t0003 a0009c0009t0004 a0009c0009t0006 a0009c0009t0082 a0026c0024t0002 a0027c0026t0003	a0004c0005t0002g0202 a0004c0005t0003g0163 a0004c0005t0004g0281 others(30): Show a0004c0005t0002g0202 a0004c0005t0003g0163 a0004c0005t0004g0281 a0004c0005t0004g0354 a0004c0005t0009g0087 a0004c0005t0011g0057 a0004c0005t0017g0184 a0004c0005t0017g0196 a0004c0005t0043g0219 a0004c0027t0078g0276 a0004c0028t0004g0207 a0005c0006t0001g0304 a0005c0006t0002g0195 a0005c0006t0002g0198 a0005c0006t0003g0160 a0005c0006t0003g0238 a0005c0006t0004g0020 a0005c0006t0007g0146 a0005c0006t0008g0216 a0005c0006t0011g0022 a0005c0006t0033g0127 a0005c0006t0035g0356 a0005c0006t0063g0183 a0005c0006t0093g0233 a0005c0017t0001g0267 a0005c0017t0002g0259 a0009c0009t0003g0041 a0009c0009t0004g0097 a0009c0009t0006g0045 a0009c0009t0006g0133 a0009c0009t0082g0039 a0026c0024t0002g0090 a0027c0026t0003g0059	33	394	0.0838	42	c.352 others(57): Show c.352-699_352-658dupCGGAGCTGAGGAGCTGGGGCGGGCATGGGG TGCTCATCTTCC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	543676	T T	TCTTCCCG others(35): Show TCTTCCCGGAGCTGAGGAGCTGGGGCGGGCATGGGGTGCTCAC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0161 a0005c0006t0001g0161	1	394	0.0025	42	c.352 others(57): Show c.352-658_352-657insCGGAGCTGAGGAGCTGGGGCGGGCATGGGG TGCTCACCTTCC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	544173	A A	ATGCTCAT others(35): Show ATGCTCATCCTCCTGGAGCTGAGGCTCTGGGGAGGGCATGGGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0036 a0001c0001t0022g0037 a0001c0001t0022g0036 a0001c0001t0022g0037	2	394	0.0051	42	c.352 others(57): Show c.352-142_352-101dupCTCTGGGGAGGGCATGGGGTGCTCATCCTC CTGGAGCTGAGG		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374793	A A	AAGGGAGG others(35): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	184	0.0054	42	c.784 others(57): Show c.784-657_784-656insGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374804	G G	GGAGGAGG others(35): Show GGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19007.hp2 NA18747.hp1 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0127 a0002c0002t0001g0111 a0002c0002t0001g0127	2	184	0.0109	42	c.784 others(57): Show c.784-657_784-656insGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGA		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19						chr11	TogoVar
B4GALNT4_chr11_364499_387117	374861	G G	GAGGGAGG others(35): Show GAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0134 a0002c0002t0001g0134	1	184	0.0054	42	c.784 others(57): Show c.784-593_784-592insAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BABAM2_chr2_27885729_28343901	28026963	T T	TATATATA others(35): Show TATATATAAATATATATATATAAATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	158	0.0063	42	c.495 others(59): Show c.495+1558_495+1559insTATATAAATATATATATATATATAAAAA TATATAAATATATA		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(35): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0043 a0001c0004t0043	a0001c0004t0043g0169 a0001c0004t0043g0169	1	194	0.0052	42	c.-16 others(63): Show c.-161-13921_-161-13920insAAAAAAAAAAAAAAAAAAAATATA TATATATATATATATATA		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8						chr6	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(35): Show AAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	298	0.0034	42	c.128 others(59): Show c.128-1893_128-1892insATATATATATATATATATATATATATAT ATATATTTTTTTTT		BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13						chr7	TogoVar
BAK1_chr6_33567552_33585276	33583018	C C	CATCTCTA others(35): Show CATCTCTACTAAAAATACAAAAAATTAGCTGGGCGCCGTAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	434	0.0023	42	c.-30 others(53): Show c.-3026_-3025insTGCTACGGCGCCCAGCTAATTTTTTGTATTTTTA GTAGAGAT		BAK1	ENSG00000030110.14	transcript	ENST00000374467.4	protein_coding					2743		chr6	TogoVar
BATF_chr14_75517469_75551992	75547205	C C	CCTTCTCC others(35): Show CCTTCTCCTTCTCCTCCTCCTTCTCCTCCTTCTCCTTCTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG02080.hp1 others(9): Show HG01074.hp1 HG01243.hp2 HG02080.hp1 HG02622.hp1 HG02897.hp1 HG02976.hp2 HG03195.hp1 HG03669.hp2 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0065 a0001c0001t0001g0106 a0001c0001t0001g0107 others(7): Show a0001c0001t0001g0065 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0004g0258 a0001c0002t0001g0012 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0118 a0001c0002t0001g0135	12	376	0.0319	42	c.53 others(51): Show c.534_*535insCTTCTCCTTCTCCTCCTCCTTCTCCTCCTTCTCCTT CTCCTT		BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding					214		chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(35): Show CACACACACACACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0046 a0001c0013t0004g0046	1	380	0.0026	42	c.393 others(59): Show c.393-6060_393-6059insATATATATATATATATATATATGTGTGT GTGTGTGTGTGTGT		BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26						chr14	TogoVar
BBS1_chr11_66505635_66538598	66512020	G G	GTGTATAT others(35): Show GTGTATATATATGTATATATATGTATATATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03579.hp1 HG02622.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0002 a0001c0001t0002 a0001c0013t0002	a0001c0001t0002g0252 a0001c0013t0002g0251 a0001c0001t0002g0252 a0001c0013t0002g0251	2	386	0.0052	42	c.159 others(57): Show c.159+793_159+834dupGTATATATATGTATATATATGTGTATATAT ATGTATATATAT		BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr11	TogoVar
BCAP29_chr7_107575246_107625478	107591641	T T	TACACACA others(35): Show TACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp2 HG02970.hp2 others(8): Show HG02886.hp1 HG02922.hp2 HG02970.hp2 HG04184.hp1 NA18956.hp2 NA18965.hp2 NA18989.hp1 NA18998.hp1 NA19043.hp2 NA19075.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0031 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0345 a0001c0001t0006g0086	11	398	0.0276	42	c.194 others(59): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACACACACAC		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(35): Show ACACACACACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	398	0.0025	42	c.194 others(59): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACACACACCC		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS2_chr1_114562557_114586615	114583288	T T	TACCTGAA others(35): Show TACCTGAATGGGTTGTAATGACAATACTGTACAAGTCAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	414	0.0024	42	c.-17 others(53): Show c.-1739_-1698dupTTTATTGACTTGTACAGTATTGTCATTACAACCC ATTCAGGT		BCAS2	ENSG00000116752.6	transcript	ENST00000369541.4	protein_coding					1674		chr1	TogoVar
BCAS3_chr17_60672851_61397831	61322810	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGGAGACGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0062 a0001c0008t0002g0062	1	74	0.0135	42	c.242 others(63): Show c.2426-45505_2426-45504insGAGACGAGAGAGAGAGAGAGAGAG AGAGACAGAGAGAGAGAG		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61322832	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19043.hp2 HG03195.hp1 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0037 a0002c0003t0002g0036 a0002c0003t0001g0037 a0002c0003t0002g0036	2	74	0.0270	42	c.242 others(63): Show c.2426-45476_2426-45475insCAGAGAGAGAGAGAGAGAGAGACA GAGAGAGAGAGAGAGAGA		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61322832	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0051 a0002c0005t0001g0051	1	74	0.0135	42	c.242 others(63): Show c.2426-45454_2426-45453insCAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGA		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61322858	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0004 a0002c0007t0001g0004	1	74	0.0135	42	c.242 others(63): Show c.2426-45450_2426-45449insCAGAGAGAGAGAGAGAGAGAGACA GAGAGAGAGAGAGAGAGA		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23					INFO_REALIGN_3_PRIME	chr17	TogoVar

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Search Results (Total: 5093 hits)