Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
NAV2_chr11_19707837_20126601	19945153	C C	CTCCCTTC others(13): Show CTCCCTTCCCTTCCCTTCCCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03579.hp2 HG03516.hp2 HG03579.hp2	a0001 a0013 a0001 a0013	a0001c0058 a0013c0057 a0001c0058 a0013c0057	a0001c0058t0009 a0013c0057t0008 a0001c0058t0009 a0013c0057t0008	a0001c0058t0009g0068 a0013c0057t0008g0093 a0001c0058t0009g0068 a0013c0057t0008g0093	2	166	0.0121	20	c.214 others(39): Show c.2147-1216_2147-1197dupCCCTTCCCTTCCCTTCCCTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106175	A A	ATATATAT others(13): Show ATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp1 HG02572.hp2 HG00741.hp1 HG01361.hp1 HG02572.hp2	a0001 a0004 a0020 a0001 a0004 a0020	a0001c0033 a0004c0121 a0020c0123 a0001c0033 a0004c0121 a0020c0123	a0001c0033t0004 a0004c0121t0032 a0020c0123t0001 a0001c0033t0004 a0004c0121t0032 a0020c0123t0001	a0001c0033t0004g0058 a0004c0121t0032g0041 a0020c0123t0001g0003 a0001c0033t0004g0058 a0004c0121t0032g0041 a0020c0123t0001g0003	3	166	0.0181	20	c.684 others(37): Show c.6841+449_6841+450insATATATATATGTGTGTGTGT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106175	A A	ATATATAT others(13): Show ATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01109.hp1 others(4): Show HG00280.hp1 HG00639.hp2 HG01109.hp1 HG02809.hp2 HG03239.hp1 HG03831.hp2 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0016 a0017	a0001c0024 a0001c0032 a0002c0105 others(4): Show a0001c0024 a0001c0032 a0002c0105 a0002c0126 a0004c0001 a0016c0104 a0017c0094	a0001c0024t0001 a0001c0032t0001 a0002c0105t0020 others(4): Show a0001c0024t0001 a0001c0032t0001 a0002c0105t0020 a0002c0126t0004 a0004c0001t0001 a0016c0104t0001 a0017c0094t0001	a0001c0024t0001g0047 a0001c0032t0001g0078 a0002c0105t0020g0094 others(4): Show a0001c0024t0001g0047 a0001c0032t0001g0078 a0002c0105t0020g0094 a0002c0126t0004g0031 a0004c0001t0001g0098 a0016c0104t0001g0063 a0017c0094t0001g0111	7	166	0.0422	20	c.684 others(37): Show c.6841+449_6841+450insATATATATGTGTGTGTGTGT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106175	A A	ATATATAT others(13): Show ATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG03942.hp1 HG00639.hp1 HG00642.hp1 HG03942.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0106 a0002c0004 a0004c0106	a0002c0004t0001 a0004c0106t0001 a0002c0004t0001 a0004c0106t0001	a0002c0004t0001g0040 a0002c0004t0001g0095 a0004c0106t0001g0143 a0002c0004t0001g0040 a0002c0004t0001g0095 a0004c0106t0001g0143	3	166	0.0181	20	c.684 others(37): Show c.6841+449_6841+450insATATATGTGTGTGTGTGTGT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106175	A A	ATATATGT others(13): Show ATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0004 a0004	a0004c0001 a0004c0001	a0004c0001t0001 a0004c0001t0001	a0004c0001t0001g0065 a0004c0001t0001g0065	1	166	0.0060	20	c.684 others(37): Show c.6841+449_6841+450insATATGTGTGTGTGTGTGTGT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106183	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0009 a0009	a0009c0109 a0009c0109	a0009c0109t0004 a0009c0109t0004	a0009c0109t0004g0039 a0009c0109t0004g0039	1	166	0.0060	20	c.684 others(37): Show c.6841+457_6841+458insGTGTGTGTGTATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV3_chr12_77825894_78218010	77873744	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp1 HG01123.hp2 others(6): Show HG00099.hp1 HG01071.hp1 HG01123.hp2 HG03486.hp1 NA18959.hp2 NA18967.hp1 NA18993.hp2 NA19001.hp2 NA19085.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0055 a0002c0022 a0006c0036 a0010c0048	a0001c0001t0001 a0001c0001t0036 a0001c0002t0012 others(6): Show a0001c0001t0001 a0001c0001t0036 a0001c0002t0012 a0001c0004t0022 a0001c0006t0002 a0001c0055t0008 a0002c0022t0007 a0006c0036t0022 a0010c0048t0002	a0001c0001t0001g0017 a0001c0001t0036g0014 a0001c0002t0012g0020 others(6): Show a0001c0001t0001g0017 a0001c0001t0036g0014 a0001c0002t0012g0020 a0001c0004t0022g0132 a0001c0006t0002g0032 a0001c0055t0008g0090 a0002c0022t0007g0078 a0006c0036t0022g0127 a0010c0048t0002g0128	9	186	0.0484	20	c.243 others(39): Show c.243+42041_243+42042insGTGTATATATATATATATAT	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV3_chr12_77825894_78218010	77873744	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0031 a0012c0028t0031	a0012c0028t0031g0008 a0012c0028t0031g0008	1	186	0.0054	20	c.243 others(39): Show c.243+42041_243+42042insGTGTGTATATATATATATAT	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV3_chr12_77825894_78218010	77873744	G G	GTGTGTGT others(13): Show GTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03492.hp1 NA19074.hp1 HG00558.hp2 HG03492.hp1 NA19074.hp1	a0001 a0001	a0001c0011 a0001c0013 a0001c0021 a0001c0011 a0001c0013 a0001c0021	a0001c0011t0001 a0001c0013t0009 a0001c0021t0001 a0001c0011t0001 a0001c0013t0009 a0001c0021t0001	a0001c0011t0001g0109 a0001c0013t0009g0121 a0001c0021t0001g0110 a0001c0011t0001g0109 a0001c0013t0009g0121 a0001c0021t0001g0110	3	186	0.0161	20	c.243 others(39): Show c.243+42041_243+42042insGTGTGTGTATATATATATAT	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV3_chr12_77825894_78218010	78064426	T T	TCTGCCTG others(13): Show TCTGCCTGCCTGCCTGCCTGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0043 a0004c0043	a0004c0043t0061 a0004c0043t0061	a0004c0043t0061g0003 a0004c0043t0061g0003	1	186	0.0054	20	c.263 others(39): Show c.2636+5331_2636+5350dupCCTGCCTGCCTGCCTGCCTG	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV3_chr12_77825894_78218010	78064426	T T	TCTGTCTG others(13): Show TCTGTCTGTCTGCCTGCCTGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0062 a0001c0006t0062	a0001c0006t0062g0169 a0001c0006t0062g0169	1	186	0.0054	20	c.263 others(39): Show c.2636+5314_2636+5315insTCTGTCTGCCTGCCTGCCTG	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV3_chr12_77825894_78218010	78095045	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0029 a0003c0031t0029	a0003c0031t0029g0178 a0003c0031t0029g0178	1	186	0.0054	20	c.263 others(41): Show c.2637-21726_2637-21707dupTATATATATATATATATATA	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV3_chr12_77825894_78218010	78160406	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGCGTGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02132.hp2 NA18962.hp1 others(5): Show HG00438.hp2 HG02132.hp2 NA18962.hp1 NA18967.hp1 NA19001.hp2 NA19006.hp2 NA19079.hp1 NA19085.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0006c0036	a0001c0001t0005 a0001c0001t0016 a0001c0004t0001 others(4): Show a0001c0001t0005 a0001c0001t0016 a0001c0004t0001 a0001c0004t0022 a0001c0007t0010 a0001c0011t0001 a0006c0036t0022	a0001c0001t0005g0040 a0001c0001t0005g0072 a0001c0001t0016g0028 others(5): Show a0001c0001t0005g0040 a0001c0001t0005g0072 a0001c0001t0016g0028 a0001c0004t0001g0064 a0001c0004t0022g0132 a0001c0007t0010g0061 a0001c0011t0001g0171 a0006c0036t0022g0127	8	186	0.0430	20	c.486 others(39): Show c.4869+1135_4869+1136insCGTGCGTGTGTGTGTGTGTG	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	23/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV3_chr12_77825894_78218010	78164681	C C	CCAGGTTA others(13): Show CCAGGTTATTTCAGTAGAACA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0003 a0001c0045t0003	a0001c0045t0003g0136 a0001c0045t0003g0136	1	186	0.0054	20	c.487 others(39): Show c.4870-4073_4870-4054dupCAGGTTATTTCAGTAGAACA	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	23/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAXE_chr1_156586776_156599299	156591765	G G	GGGGTCGG others(13): Show GGGGTCGGGCCGGGCCGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	432	0.0023	20	c.-40 others(27): Show c.-40_-39insGGGTCGGGCCGGGCCGGGCC	NAXE	ENSG00000163382.13	transcript	ENST00000368235.8	protein_coding		10		chr1	TogoVar
NBAS_chr2_15161916_15566334	15528885	A A	ATATATAT others(13): Show ATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0030 a0030	a0030c0024 a0030c0024	a0030c0024t0001 a0030c0024t0001	a0030c0024t0001g0028 a0030c0024t0001g0028	1	224	0.0045	20	c.746 others(37): Show c.746+5657_746+5658insCACACATATATATATATATA	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	9/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15535551	T T	TAAATAAA others(13): Show TAAATAAATAAATAAATAAAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG03486.hp2 others(1): Show HG01884.hp1 HG02258.hp1 HG03486.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0036 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0003t0001g0030	4	224	0.0179	20	c.647 others(35): Show c.647+866_647+867insGTTTATTTATTTATTTATTT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	8/51			chr2	TogoVar
NBDY_chrX_56724243_56824179	56739236	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG04115.hp1 NA18995.hp1 HG02818.hp1 HG04115.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0009g0042 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0009g0042	3	160	0.0188	20	c.16 others(39): Show c.166+7038_*166+7039insATATATATATATATATATAT	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
NBEAL1_chr2_203009875_203230194	203039216	T T	TTTCCCTT others(13): Show TTTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0054 a0001c0001t0041g0054	1	292	0.0034	20	c.52- others(35): Show c.52-2501_52-2482dupCCCTTCCCTTCCCTTCCCTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	2/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203110674	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	292	0.0034	20	c.208 others(37): Show c.2082+414_2082+433dupAATAAATAAATAAATAAATA	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	15/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203119424	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18982.hp1 HG02486.hp2 NA18982.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0033 a0001c0001 a0009c0033	a0001c0001t0014 a0009c0033t0001 a0001c0001t0014 a0009c0033t0001	a0001c0001t0014g0260 a0009c0033t0001g0203 a0001c0001t0014g0260 a0009c0033t0001g0203	2	292	0.0069	20	c.259 others(39): Show c.2593-2829_2593-2810dupTTTTTTTTTTTTTTTTTTTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	18/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203180933	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0277 a0001c0001t0005g0277	1	292	0.0034	20	c.659 others(37): Show c.6595+424_6595+443dupTTTTTTTTTTTTTTTTTTTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	43/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203209713	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02976.hp1 NA19078.hp1 HG02451.hp1 HG02976.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0041 a0001c0009t0007 a0001c0001t0001 a0001c0001t0041 a0001c0009t0007	a0001c0001t0001g0248 a0001c0001t0041g0054 a0001c0009t0007g0055 a0001c0001t0001g0248 a0001c0001t0041g0054 a0001c0009t0007g0055	3	292	0.0103	20	c.778 others(37): Show c.7785+405_7785+424dupGTGTGTGTGTGTGTGTGTGT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	53/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEA_chr13_34937270_35677736	35150793	T T	TTAGAGTA others(13): Show TTAGAGTAGAGTAGAGTAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00642.hp2 others(3): Show HG00408.hp1 HG00597.hp1 HG00642.hp2 HG01496.hp1 HG04184.hp2 HG04199.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0019 a0007c0023 a0001c0001 a0002c0019 a0007c0023	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0002c0019t0001 a0007c0023t0004	a0001c0001t0002g0046 a0001c0001t0006g0040 a0001c0001t0007g0094 others(3): Show a0001c0001t0002g0046 a0001c0001t0006g0040 a0001c0001t0007g0094 a0001c0001t0012g0032 a0002c0019t0001g0059 a0007c0023t0004g0016	6	122	0.0492	20	c.244 others(39): Show c.2446-4962_2446-4943dupAGTAGAGTAGAGTAGAGTAG	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	18/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35389970	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	122	0.0082	20	c.617 others(41): Show c.6179+37662_6179+37681dupGTGTGTGTGTGTGTGTGTGT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	38/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBN_chr8_89928331_89989667	89931878	C C	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 NA18906.hp1 NA19009.hp1 others(1): Show HG02027.hp1 NA18906.hp1 NA19009.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0005 a0001c0002t0005 a0001c0003t0005	a0001c0002t0005g0217 a0001c0003t0005g0054 a0001c0003t0005g0171 others(1): Show a0001c0002t0005g0217 a0001c0003t0005g0054 a0001c0003t0005g0171 a0001c0003t0005g0173	4	390	0.0103	20	c.36 others(31): Show c.3684_*3703dupTATTTATTTATTTATTTATT	NBN	ENSG00000104320.15	transcript	ENST00000265433.8	protein_coding		1452		chr8	TogoVar
NBPF10_chr1_146059711_146149804	146109311	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0081 a0081	a0081c0095 a0081c0095	a0081c0095t0005 a0081c0095t0005	a0081c0095t0005g0160 a0081c0095t0005g0160	1	283	0.0035	20	c.450 others(37): Show c.4500-217_4500-198dupGTGTGTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	35/89			chr1	TogoVar
NBPF11_chr1_148097151_148157281	148112152	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0002 a0000c0008t0002	a0000c0008t0002g0316 a0000c0008t0002g0316	1	388	0.0026	20	c.163 others(39): Show c.1638-1612_1638-1611insTATATATATATATATATATA	NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	15/23			chr1	TogoVar
NBPF11_chr1_148097151_148157281	148145538	T T	TAAGCAGT others(13): Show TAAGCAGTAACCATAAAGGAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0002 a0000c0002t0002	a0000c0002t0002g0364 a0000c0002t0002g0364	1	388	0.0026	20	c.-54 others(39): Show c.-548-1872_-548-1853dupTTCCTTTATGGTTACTGCTT	NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	1/23			chr1	TogoVar
NBPF12_chr1_146933324_147001198	146992460	C C	CTCTCTCA others(13): Show CTCTCTCAGTGTGTGCGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0032 a0032	a0032c0020 a0032c0020	a0032c0020t0018 a0032c0020t0018	a0032c0020t0018g0088 a0032c0020t0018g0088	1	122	0.0082	20	c.384 others(37): Show c.3849-249_3849-248insCTCAGTGTGTGCGTGTGTCT	NBPF12	ENSG00000268043.9	transcript	ENST00000698835.1	protein_coding	34/36		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF14_chr1_148526385_148601011	148566554	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG01168.hp1 others(1): Show HG00099.hp1 HG01106.hp2 HG01168.hp1 HG02300.hp2	a0012 a0084 a0012 a0084	a0012c0010 a0084c0073 a0012c0010 a0084c0073	a0012c0010t0001 a0084c0073t0001 a0012c0010t0001 a0084c0073t0001	a0012c0010t0001g0110 a0012c0010t0001g0127 a0012c0010t0001g0137 others(1): Show a0012c0010t0001g0110 a0012c0010t0001g0127 a0012c0010t0001g0137 a0084c0073t0001g0136	4	222	0.0180	20	c.354 others(37): Show c.3543-240_3543-239insCTCTCTCTCTCTCTCTCTCT	NBPF14	ENSG00000270629.7	transcript	ENST00000619423.4	protein_coding	28/70			chr1	TogoVar
NBPF14_chr1_148526385_148601011	148566558	C C	CACAGAGA others(13): Show CACAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0005 a0002c0042t0005	a0002c0042t0005g0014 a0002c0042t0005g0014	1	222	0.0045	20	c.354 others(37): Show c.3543-244_3543-243insCTCTCTCTCTCTCTCTCTGT	NBPF14	ENSG00000270629.7	transcript	ENST00000619423.4	protein_coding	28/70			chr1	TogoVar
NBPF15_chr1_144416390_144466669	144416912	T T	TACACACA others(13): Show TACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0315 a0001c0002t0001g0315	1	394	0.0025	20	c.61 others(31): Show c.6100_*6101insGTGTGTGTGTGTGTGTGTGT	NBPF15	ENSG00000266338.7	transcript	ENST00000581897.7	protein_coding		4477		chr1	TogoVar
NBPF15_chr1_144416390_144466669	144455113	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03490.hp2 HG03492.hp1 HG03017.hp1 HG03490.hp2 HG03492.hp1	a0002 a0011 a0002 a0011	a0002c0014 a0011c0015 a0002c0014 a0011c0015	a0002c0014t0007 a0011c0015t0007 a0002c0014t0007 a0011c0015t0007	a0002c0014t0007g0018 a0011c0015t0007g0016 a0011c0015t0007g0017 a0002c0014t0007g0018 a0011c0015t0007g0016 a0011c0015t0007g0017	3	394	0.0076	20	c.-43 others(39): Show c.-432+1423_-432+1424insCCCTTCCTTCCTTCCTTCCT	NBPF15	ENSG00000266338.7	transcript	ENST00000581897.7	protein_coding	4/21			chr1	TogoVar
NBPF15_chr1_144416390_144466669	144463598	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01255.hp2 HG02970.hp2 others(1): Show HG00735.hp2 HG01255.hp2 HG02970.hp2 NA21309.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0002 a0002c0043 a0016c0038 a0001c0002 a0002c0043 a0016c0038	a0001c0002t0001 a0002c0043t0008 a0016c0038t0015 a0001c0002t0001 a0002c0043t0008 a0016c0038t0015	a0001c0002t0001g0194 a0001c0002t0001g0286 a0002c0043t0008g0035 others(1): Show a0001c0002t0001g0194 a0001c0002t0001g0286 a0002c0043t0008g0035 a0016c0038t0015g0036	4	394	0.0102	20	c.-31 others(31): Show c.-3156_-3155insTTTTTTTTTTTTTTTTTTTT	NBPF15	ENSG00000266338.7	transcript	ENST00000581897.7	protein_coding		1930		chr1	TogoVar
NBPF19_chr1_149470045_149561361	149524200	C C	CTCTGTGT others(13): Show CTCTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18983.hp2 HG02572.hp2 NA18983.hp2	a0022 a0118 a0022 a0118	a0022c0023 a0118c0151 a0022c0023 a0118c0151	a0022c0023t0001 a0118c0151t0001 a0022c0023t0001 a0118c0151t0001	a0022c0023t0001g0160 a0118c0151t0001g0053 a0022c0023t0001g0160 a0118c0151t0001g0053	2	276	0.0073	20	c.661 others(37): Show c.6615-244_6615-243insCTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	55/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149528945	C C	CTCTCTCT others(13): Show CTCTCTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02896.hp2 HG04115.hp1 others(3): Show HG01099.hp1 HG02896.hp2 HG04115.hp1 HG04115.hp2 NA19074.hp2 NA20129.hp1	a0088 a0110 a0168 others(3): Show a0088 a0110 a0168 a0169 a0170 a0176	a0088c0105 a0110c0133 a0168c0206 others(3): Show a0088c0105 a0110c0133 a0168c0206 a0169c0205 a0170c0208 a0176c0194	a0088c0105t0008 a0110c0133t0001 a0168c0206t0004 others(3): Show a0088c0105t0008 a0110c0133t0001 a0168c0206t0004 a0169c0205t0004 a0170c0208t0004 a0176c0194t0001	a0088c0105t0008g0100 a0110c0133t0001g0058 a0168c0206t0004g0203 others(3): Show a0088c0105t0008g0100 a0110c0133t0001g0058 a0168c0206t0004g0203 a0169c0205t0004g0209 a0170c0208t0004g0202 a0176c0194t0001g0129	6	276	0.0217	20	c.734 others(37): Show c.7347-228_7347-227insCTCTCTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	61/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149528945	C C	CTCTCTGT others(13): Show CTCTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0117 a0117	a0117c0152 a0117c0152	a0117c0152t0001 a0117c0152t0001	a0117c0152t0001g0087 a0117c0152t0001g0087	1	276	0.0036	20	c.734 others(37): Show c.7347-228_7347-227insCTCTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	61/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149528945	C C	CTCTGTGT others(13): Show CTCTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02040.hp2 HG02165.hp2 others(2): Show HG00621.hp1 HG02040.hp2 HG02165.hp2 NA18959.hp1 NA18981.hp1	a0039 a0041 a0191 others(2): Show a0039 a0041 a0191 a0193 a0194	a0039c0219 a0041c0217 a0191c0054 others(2): Show a0039c0219 a0041c0217 a0191c0054 a0193c0057 a0194c0058	a0039c0219t0002 a0041c0217t0003 a0191c0054t0002 others(2): Show a0039c0219t0002 a0041c0217t0003 a0191c0054t0002 a0193c0057t0002 a0194c0058t0002	a0039c0219t0002g0227 a0041c0217t0003g0185 a0191c0054t0002g0264 others(2): Show a0039c0219t0002g0227 a0041c0217t0003g0185 a0191c0054t0002g0264 a0193c0057t0002g0006 a0194c0058t0002g0235	5	276	0.0181	20	c.734 others(37): Show c.7347-228_7347-227insCTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	61/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149528945	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18982.hp1 HG03704.hp2 NA18982.hp1	a0035 a0212 a0035 a0212	a0035c0015 a0212c0069 a0035c0015 a0212c0069	a0035c0015t0002 a0212c0069t0002 a0035c0015t0002 a0212c0069t0002	a0035c0015t0002g0217 a0212c0069t0002g0245 a0035c0015t0002g0217 a0212c0069t0002g0245	2	276	0.0073	20	c.734 others(37): Show c.7347-217_7347-198dupGTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	61/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149543186	C C	CTCTCTGT others(13): Show CTCTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02135.hp1 HG02165.hp2 others(8): Show HG01891.hp2 HG02135.hp1 HG02165.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp2	a0004 a0028 a0029 others(4): Show a0004 a0028 a0029 a0041 a0081 a0082 a0132	a0004c0026 a0004c0027 a0028c0032 others(5): Show a0004c0026 a0004c0027 a0028c0032 a0029c0033 a0041c0217 a0081c0113 a0082c0117 a0132c0166	a0004c0026t0001 a0004c0027t0001 a0028c0032t0001 others(5): Show a0004c0026t0001 a0004c0027t0001 a0028c0032t0001 a0029c0033t0001 a0041c0217t0003 a0081c0113t0001 a0082c0117t0001 a0132c0166t0012	a0004c0026t0001g0007 a0004c0026t0001g0008 a0004c0027t0001g0001 others(7): Show a0004c0026t0001g0007 a0004c0026t0001g0008 a0004c0027t0001g0001 a0028c0032t0001g0161 a0029c0033t0001g0197 a0029c0033t0001g0198 a0041c0217t0003g0185 a0081c0113t0001g0148 a0082c0117t0001g0009 a0132c0166t0012g0179	11	276	0.0399	20	c.954 others(37): Show c.9543-226_9543-225insCTCTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	79/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149543186	C C	CTCTGTGT others(13): Show CTCTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01099.hp2 others(22): Show HG00099.hp2 HG00741.hp1 HG01099.hp2 HG01123.hp2 HG01346.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG02027.hp1 HG02040.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03471.hp2 NA18906.hp2 NA18954.hp1 NA19030.hp1 NA19066.hp1	a0001 a0008 a0009 others(14): Show a0001 a0008 a0009 a0022 a0030 a0038 a0054 a0070 a0073 a0074 a0075 a0078 a0092 a0121 a0134 a0139 a0144	a0001c0001 a0008c0037 a0008c0215 others(15): Show a0001c0001 a0008c0037 a0008c0215 a0009c0006 a0022c0023 a0030c0034 a0038c0038 a0054c0085 a0070c0101 a0073c0103 a0074c0112 a0075c0108 a0078c0111 a0092c0120 a0121c0154 a0134c0164 a0139c0172 a0144c0178	a0001c0001t0001 a0008c0037t0001 a0008c0215t0001 others(15): Show a0001c0001t0001 a0008c0037t0001 a0008c0215t0001 a0009c0006t0001 a0022c0023t0001 a0030c0034t0001 a0038c0038t0001 a0054c0085t0001 a0070c0101t0001 a0073c0103t0001 a0074c0112t0001 a0075c0108t0001 a0078c0111t0001 a0092c0120t0001 a0121c0154t0024 a0134c0164t0001 a0139c0172t0001 a0144c0178t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0077 others(22): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0121 a0001c0001t0001g0136 a0008c0037t0001g0075 a0008c0037t0001g0135 a0008c0215t0001g0067 a0009c0006t0001g0139 a0022c0023t0001g0160 a0030c0034t0001g0092 a0030c0034t0001g0093 a0038c0038t0001g0171 a0054c0085t0001g0150 a0070c0101t0001g0044 a0073c0103t0001g0018 a0074c0112t0001g0104 a0075c0108t0001g0163 a0078c0111t0001g0102 a0092c0120t0001g0141 a0121c0154t0024g0091 a0134c0164t0001g0039 a0139c0172t0001g0105 a0144c0178t0001g0119	25	276	0.0906	20	c.954 others(37): Show c.9543-226_9543-225insCTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	79/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149543186	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03017.hp2 HG03704.hp2 others(3): Show HG00621.hp1 HG03017.hp2 HG03704.hp2 NA18947.hp2 NA18963.hp2 NA20752.hp1	a0033 a0035 a0188 others(2): Show a0033 a0035 a0188 a0194 a0202	a0033c0011 a0035c0015 a0188c0051 others(2): Show a0033c0011 a0035c0015 a0188c0051 a0194c0058 a0202c0064	a0033c0011t0002 a0035c0015t0002 a0188c0051t0002 others(2): Show a0033c0011t0002 a0035c0015t0002 a0188c0051t0002 a0194c0058t0002 a0202c0064t0002	a0033c0011t0002g0254 a0035c0015t0002g0216 a0035c0015t0002g0217 others(3): Show a0033c0011t0002g0254 a0035c0015t0002g0216 a0035c0015t0002g0217 a0188c0051t0002g0252 a0194c0058t0002g0235 a0202c0064t0002g0262	6	276	0.0217	20	c.954 others(37): Show c.9543-216_9543-215insGTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	79/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149547923	C C	CTCTGTGT others(13): Show CTCTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01099.hp1 HG02027.hp2 others(4): Show HG00423.hp2 HG01099.hp1 HG02027.hp2 HG02083.hp2 HG02698.hp1 HG03516.hp2 NA19068.hp1	a0073 a0081 a0086 others(4): Show a0073 a0081 a0086 a0117 a0129 a0168 a0171	a0073c0103 a0081c0113 a0086c0119 others(4): Show a0073c0103 a0081c0113 a0086c0119 a0117c0152 a0129c0167 a0168c0206 a0171c0207	a0073c0103t0001 a0081c0113t0001 a0086c0119t0001 others(4): Show a0073c0103t0001 a0081c0113t0001 a0086c0119t0001 a0117c0152t0001 a0129c0167t0012 a0168c0206t0004 a0171c0207t0004	a0073c0103t0001g0018 a0081c0113t0001g0148 a0086c0119t0001g0085 others(4): Show a0073c0103t0001g0018 a0081c0113t0001g0148 a0086c0119t0001g0085 a0117c0152t0001g0087 a0129c0167t0012g0088 a0168c0206t0004g0203 a0171c0207t0004g0208	7	276	0.0254	20	c.102 others(39): Show c.10275-226_10275-225insCTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	85/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149547923	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0179 a0179	a0179c0071 a0179c0071	a0179c0071t0002 a0179c0071t0002	a0179c0071t0002g0260 a0179c0071t0002g0260	1	276	0.0036	20	c.102 others(39): Show c.10275-216_10275-215insGTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	85/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149552660	C C	CTCTCTGT others(13): Show CTCTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0163 a0163	a0163c0199 a0163c0199	a0163c0199t0005 a0163c0199t0005	a0163c0199t0005g0215 a0163c0199t0005g0215	1	276	0.0036	20	c.110 others(39): Show c.11007-226_11007-225insCTCTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	91/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149560806	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0212 a0006c0212	a0006c0212t0002 a0006c0212t0002	a0006c0212t0002g0223 a0006c0212t0002g0223	1	276	0.0036	20	c.60 others(31): Show c.6068_*6069insGTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding		4446		chr1	TogoVar
NBPF20_chr1_145285005_145430603	145357074	C C	CACACACA others(13): Show CACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0006 a0003c0004t0001g0006	1	6	0.1667	20	c.661 others(37): Show c.6615-224_6615-223insCTGTGTGTGTGTGTGTGTGT	NBPF20	ENSG00000162825.18	transcript	ENST00000698833.1	protein_coding	60/142			chr1	TogoVar
NBPF20_chr1_145285005_145430603	145357078	C C	CACACACA others(13): Show CACACACAGACACACACACAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0005 a0002c0005t0002g0005	1	6	0.1667	20	c.661 others(37): Show c.6615-228_6615-227insCTGTGTGTGTGTCTGTGTGT	NBPF20	ENSG00000162825.18	transcript	ENST00000698833.1	protein_coding	60/142			chr1	TogoVar
NBPF3_chr1_21435137_21489900	21446446	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03471.hp1 HG06807.hp1 others(3): Show HG03098.hp1 HG03471.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA21309.hp2	a0001 a0004 a0018 a0001 a0004 a0018	a0001c0001 a0004c0004 a0018c0029 a0001c0001 a0004c0004 a0018c0029	a0001c0001t0001 a0004c0004t0005 a0018c0029t0001 a0001c0001t0001 a0004c0004t0005 a0018c0029t0001	a0001c0001t0001g0195 a0001c0001t0001g0280 a0004c0004t0005g0022 others(2): Show a0001c0001t0001g0195 a0001c0001t0001g0280 a0004c0004t0005g0022 a0004c0004t0005g0064 a0018c0029t0001g0281	6	394	0.0152	20	c.133 others(37): Show c.133+1256_133+1275dupTTCCTTCCTTCCTTCCTTCC	NBPF3	ENSG00000142794.19	transcript	ENST00000318249.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar

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