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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
B3GNTL1_chr17_82937149_83056770	82971578	C C	CCACAGGG others(31): Show CCACAGGGGCCAGAAGGACCCGGTGCCGACCACACCATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	266	0.0038	38	c.460 others(55): Show c.460-5833_460-5832insTATGGTGTGGTCGGCACCGGGTCCTTCT GGCCCCTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972234	C C	CCACAGGG others(31): Show CCACAGGGGATAGAAGGACCTGGTGCCGACCACAGCACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(70): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02886.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp1 HG04115.hp1 NA18522.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18971.hp1 NA18983.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp1 NA19062.hp2 NA19064.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0012 a0002c0005 a0002c0009 a0003c0023 a0007c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0022 a0001c0001t0036 a0001c0002t0002 a0001c0002t0008 a0001c0002t0028 a0001c0002t0029 a0001c0003t0004 a0001c0003t0021 a0001c0006t0002 a0001c0006t0008 a0001c0012t0001 a0002c0005t0003 a0002c0005t0007 a0002c0009t0003 a0002c0009t0013 a0003c0023t0011 a0007c0028t0002	a0001c0001t0001g0061 a0001c0001t0001g0179 a0001c0001t0002g0064 others(70): Show a0001c0001t0001g0061 a0001c0001t0001g0179 a0001c0001t0002g0064 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0004g0227 a0001c0001t0004g0237 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0006g0157 a0001c0001t0022g0230 a0001c0001t0036g0244 a0001c0002t0002g0065 a0001c0002t0002g0072 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0088 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0104 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0122 a0001c0002t0002g0125 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0008g0069 a0001c0002t0008g0091 a0001c0002t0008g0092 a0001c0002t0008g0099 a0001c0002t0008g0100 a0001c0002t0008g0101 a0001c0002t0008g0102 a0001c0002t0008g0108 a0001c0002t0008g0111 a0001c0002t0008g0123 a0001c0002t0028g0120 a0001c0002t0029g0073 a0001c0003t0004g0189 a0001c0003t0004g0190 a0001c0003t0004g0201 a0001c0003t0004g0217 a0001c0003t0004g0223 a0001c0003t0021g0219 a0001c0006t0002g0024 a0001c0006t0002g0031 a0001c0006t0002g0040 a0001c0006t0008g0020 a0001c0012t0001g0068 a0002c0005t0003g0052 a0002c0005t0003g0053 a0002c0005t0003g0059 a0002c0005t0003g0060 a0002c0005t0003g0062 a0002c0005t0003g0063 a0002c0005t0003g0180 a0002c0005t0007g0228 a0002c0009t0003g0078 a0002c0009t0003g0121 a0002c0009t0013g0066 a0003c0023t0011g0019 a0007c0028t0002g0106	73	266	0.2744	38	c.460 others(55): Show c.460-6489_460-6488insTGTGCTGTGGTCGGCACCAGGTCCTTCT ATCCCCTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972534	C C	CCACACCA others(31): Show CCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp2 HG02055.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0015 a0001c0001t0012 a0001c0001t0015	a0001c0001t0012g0148 a0001c0001t0015g0249 a0001c0001t0012g0148 a0001c0001t0015g0249	2	266	0.0075	38	c.460 others(55): Show c.460-6789_460-6788insTCGGCACCAGGTCCTTCTAGCCCCTGTG GTGTGGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	511704	T T	TCCACCTT others(31): Show TCCACCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0139 a0001c0002t0004g0139	1	394	0.0025	38	c.170 others(57): Show c.170-23460_170-23459insACCTTCCACCTTCCACCTTCGACCTT CCGCCTTCCGCC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374733	A A	AAGGGAGG others(31): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	184	0.0054	38	c.784 others(53): Show c.784-717_784-716insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374763	A A	AAGGGAGG others(31): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	184	0.0054	38	c.784 others(53): Show c.784-672_784-671insGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374774	G G	GGAGGAGG others(31): Show GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0153 a0002c0002t0006g0153	1	184	0.0054	38	c.784 others(53): Show c.784-687_784-686insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19			chr11	TogoVar
B4GALNT4_chr11_364499_387117	374778	A A	AAGGGAGG others(31): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0130	1	184	0.0054	38	c.784 others(53): Show c.784-657_784-656insGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374789	G G	GGAGGAGG others(31): Show GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0142	1	184	0.0054	38	c.784 others(53): Show c.784-672_784-671insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19			chr11	TogoVar
B4GALNT4_chr11_364499_387117	374804	G G	GGAGGAGG others(31): Show GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG04199.hp1 NA19057.hp2 others(1): Show HG00733.hp1 HG04199.hp1 NA19057.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0126 a0002c0002t0001g0146 others(1): Show a0002c0002t0001g0050 a0002c0002t0001g0126 a0002c0002t0001g0146 a0002c0002t0001g0155	4	184	0.0217	38	c.784 others(53): Show c.784-657_784-656insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19			chr11	TogoVar
B4GALNT4_chr11_364499_387117	374954	G G	GGAGGAGG others(31): Show GGAGGAGGAAGGGAGGGAGGAGGAAGGAGGGAGGAGGAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0001 a0017c0025t0001	a0017c0025t0001g0110 a0017c0025t0001g0110	1	184	0.0054	38	c.784 others(53): Show c.784-506_784-505insAGGAGGAAGGGAGGGAGGAGGAAGGAGGGA GGAGGAAG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375121	G G	GGAGGAGG others(31): Show GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0115 a0002c0002t0001g0115	1	184	0.0054	38	c.784 others(53): Show c.784-340_784-339insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19			chr11	TogoVar
B4GALNT4_chr11_364499_387117	375125	A A	AAGGGAGG others(31): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	184	0.0054	38	c.784 others(53): Show c.784-325_784-324insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375151	G G	GGAGGAGG others(31): Show GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp2 HG02976.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0032 a0002c0002 a0002c0032	a0002c0002t0001 a0002c0032t0001 a0002c0002t0001 a0002c0032t0001	a0002c0002t0001g0154 a0002c0032t0001g0121 a0002c0002t0001g0154 a0002c0032t0001g0121	2	184	0.0109	38	c.784 others(53): Show c.784-310_784-309insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19			chr11	TogoVar
B4GALNT4_chr11_364499_387117	384901	A A	ACACAGCC others(31): Show ACACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03516.hp2 HG03225.hp1 HG03516.hp2	a0004 a0005 a0004 a0005	a0004c0037 a0005c0009 a0004c0037 a0005c0009	a0004c0037t0001 a0005c0009t0001 a0004c0037t0001 a0005c0009t0001	a0004c0037t0001g0024 a0005c0009t0001g0118 a0004c0037t0001g0024 a0005c0009t0001g0118	2	184	0.0109	38	c.31 others(49): Show c.3109_*3110insCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAA CCCC	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		2785		chr11	TogoVar
B4GALNT4_chr11_364499_387117	385268	A A	AGGCCTGG others(31): Show AGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	184	0.0054	38	c.34 others(49): Show c.3476_*3477insGGCCTGGAACCCCCACAGCCGGGCAAGACCCACT CCCG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		3152		chr11	TogoVar
B4GALNT4_chr11_364499_387117	385512	C C	CAGCCGGG others(31): Show CAGCCGGGCAAGACCCACTCCCGGGCCTGGAACCCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0085 a0001c0005t0002g0085	1	184	0.0054	38	c.37 others(49): Show c.3720_*3721insAGCCGGGCAAGACCCACTCCCGGGCCTGGAACCC CCAT	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		3396		chr11	TogoVar
B4GALNT4_chr11_364499_387117	385668	C C	CGGGCAAG others(31): Show CGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG03486.hp1 HG03516.hp1 others(1): Show HG01243.hp1 HG03486.hp1 HG03516.hp1 NA18522.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0012 a0002c0004 a0004c0012	a0002c0004t0001 a0002c0004t0002 a0004c0012t0002 a0002c0004t0001 a0002c0004t0002 a0004c0012t0002	a0002c0004t0001g0168 a0002c0004t0002g0128 a0002c0004t0002g0129 others(1): Show a0002c0004t0001g0168 a0002c0004t0002g0128 a0002c0004t0002g0129 a0004c0012t0002g0109	4	184	0.0217	38	c.38 others(49): Show c.3876_*3877insGGGCAAGACCCACTCCCAGGCCTGGAACCCCCAC AGCT	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		3552		chr11	TogoVar
BABAM2_chr2_27885729_28343901	28026761	C C	CTATATAT others(31): Show CTATATATAAATATATATTTATATATAAATATATATCTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	158	0.0063	38	c.495 others(55): Show c.495+1347_495+1348insTAAATATATATTTATATATAAATATATA TCTATATATA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28026865	T T	TATATATT others(31): Show TATATATTTATATATATAGATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02735.hp1 HG03017.hp2 others(2): Show HG01109.hp1 HG02735.hp1 HG03017.hp2 HG03834.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0002g0026	5	158	0.0317	38	c.495 others(55): Show c.495+1451_495+1452insTTATATATATAGATATATATAAATATAT ATAAATATAT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0011 a0001c0001t0102g0011	1	194	0.0052	38	c.-16 others(57): Show c.-161-3183_-161-3182insATATATATATATATATATATTTTTTT TTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0052 a0001c0005t0018g0052	1	194	0.0052	38	c.-16 others(57): Show c.-161-3183_-161-3182insATATATATATATATATATATATTTTT TTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0120 a0001c0005t0010g0120	1	194	0.0052	38	c.-16 others(57): Show c.-161-3183_-161-3182insATATATATATATATATATATATATTT TTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BANK1_chr4_101785730_102079812	102007148	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0254 a0003c0004t0001g0254	1	284	0.0035	38	c.120 others(59): Show c.1207-14344_1207-14343insTATATATATATATATCTATATATA TATATATATATATA	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BASP1_chr5_17212631_17281834	17217071	T T	TGTGAGAG others(31): Show TGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0246 a0001c0001t0035g0246	1	370	0.0027	38	c.-74 others(47): Show c.-749_-748insGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding		559		chr5	TogoVar
BAZ1A_chr14_34747731_34880360	34832211	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0147 a0001c0002t0003g0147	1	380	0.0026	38	c.393 others(55): Show c.393-6056_393-6055insATATATATATATATATATATATATATAT ATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(31): Show CACACACACACACACACACACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	380	0.0026	38	c.393 others(55): Show c.393-6060_393-6059insATATATATATGTGTGTGTGTGTGTGTGT GTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(31): Show CACACACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 NA18947.hp2 HG02895.hp2 HG02897.hp1 NA18947.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0004g0349 a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0004g0349	3	380	0.0079	38	c.393 others(55): Show c.393-6060_393-6059insATATATATATATATATATATATATATAT GTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(31): Show CACACACACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0348 a0001c0004t0004g0348	1	380	0.0026	38	c.393 others(55): Show c.393-6060_393-6059insATATATATATATATATATATATATATAT ATGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(31): Show CACACACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18612.hp1 HG00408.hp1 NA18612.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0347 a0001c0004t0004g0359 a0001c0004t0004g0347 a0001c0004t0004g0359	2	380	0.0053	38	c.393 others(55): Show c.393-6060_393-6059insATATATATATATATATATATATATATAT ATATGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BBS5_chr2_169474494_169511655	169506101	G G	GCCAGCCC others(31): Show GCCAGCCCCCCTCCAAAGAGGTAGCGGTCACCCCCGCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0073 a0001c0001t0028g0073	1	398	0.0025	38	c.15 others(49): Show c.1519_*1520insCCAGCCCCCCTCCAAAGAGGTAGCGGTCACCCCC GCCC	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	12/12	1520		chr2	TogoVar
BBS9_chr7_33124564_33611069	33536681	T T	TCCCCCCG others(31): Show TCCCCCCGCCCCCTGCCTTCCCCCCGCCCCCCCGCCTAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	268	0.0037	38	c.252 others(57): Show c.2521+2517_2521+2518insTGCCTTCCCCCCGCCCCCCCGCCTAC CCCCCCGCCCCC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33536688	G G	GCCCCCCG others(31): Show GCCCCCCGCCTTCCCCCCGCCCCCCCGCCTCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0103 a0010c0014t0001g0103	1	268	0.0037	38	c.252 others(57): Show c.2521+2522_2521+2523insTCCCCCCGCCCCCCCGCCTCCCCCCC GCCCCCCCGCCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33569407	G G	GTGTGTGT others(31): Show GTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA20805.hp2 HG01261.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0245 a0001c0001t0001g0161 a0001c0001t0001g0245	2	268	0.0075	38	c.252 others(59): Show c.2521+35232_2521+35233insGTGTGTATATATATATATATATAT ATATATATATATAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591641	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02258.hp2 HG02897.hp1 HG02132.hp1 HG02258.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0044 a0001c0001t0001g0335 a0001c0001t0011g0182 a0001c0001t0001g0044 a0001c0001t0001g0335 a0001c0001t0011g0182	3	398	0.0075	38	c.194 others(55): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACACAC	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(31): Show ACACACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03453.hp1 HG03453.hp2 others(2): Show HG00544.hp1 HG03453.hp1 HG03453.hp2 NA18988.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0003g0206 others(2): Show a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0003g0206 a0001c0001t0003g0231 a0001c0001t0003g0232	5	398	0.0126	38	c.194 others(55): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACACCC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS3_chr17_60672851_61397831	60973585	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0030 a0002c0006t0002g0030	1	74	0.0135	38	c.122 others(59): Show c.1222-16386_1222-16385insTATATATATATATATATATATATA TATATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044461	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	74	0.0135	38	c.202 others(57): Show c.2029+3570_2029+3571insTATATATATATATATATATATATATA TATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0058 a0001c0004t0001g0058	1	74	0.0135	38	c.202 others(57): Show c.2029+3574_2029+3575insAAAAAAAAAATATATATATATATATA TATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61322812	G G	GAGAGAGA others(31): Show GAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03139.hp2 HG02615.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0002 a0001c0002t0001 a0001c0004t0002	a0001c0002t0001g0071 a0001c0004t0002g0050 a0001c0002t0001g0071 a0001c0004t0002g0050	2	74	0.0270	38	c.242 others(59): Show c.2426-45502_2426-45501insCAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61322836	G G	GAGAGAGA others(31): Show GAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	74	0.0135	38	c.242 others(59): Show c.2426-45476_2426-45475insCAGAGAGAGAGAGAGAGAGAGACA GAGAGAGAGAGAGA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24936712	A A	ATCTCTCT others(31): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02135.hp2 HG01081.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0025 a0001c0001t0006 a0001c0001t0025	a0001c0001t0006g0281 a0001c0001t0025g0282 a0001c0001t0006g0281 a0001c0001t0025g0282	2	322	0.0062	38	c.6+1 others(53): Show c.6+12214_6+12215insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCL2L10_chr15_52104263_52117775	52117089	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	458	0.0022	38	c.-43 others(49): Show c.-4364_-4363insATATATATATATATATATATATATATATATATAT ATAT	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4315		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	458	0.0022	38	c.-43 others(49): Show c.-4377_-4376insAATATATATATATATATATATATATATATATATA TATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	458	0.0022	38	c.-43 others(49): Show c.-4377_-4376insAAAATATATATATATATATATATATATATATATA TATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	458	0.0022	38	c.-43 others(49): Show c.-4377_-4376insAAAAAAAATATATATATATATATATATATATATA TATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(31): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	458	0.0022	38	c.-43 others(49): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCO1_chr16_81233689_81296142	81235195	T T	TATATATA others(31): Show TATATATAAATAAATAAATATATATATATATATAAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG02922.hp1 HG02109.hp1 HG02615.hp1 HG02922.hp1	a0001 a0010 a0001 a0010	a0001c0005 a0010c0015 a0001c0005 a0010c0015	a0001c0005t0001 a0010c0015t0001 a0001c0005t0001 a0010c0015t0001	a0001c0005t0001g0143 a0001c0005t0001g0153 a0010c0015t0001g0154 a0001c0005t0001g0143 a0001c0005t0001g0153 a0010c0015t0001g0154	3	402	0.0075	38	c.-37 others(49): Show c.-3714_-3713insATATATAAATAAATAAATATATATATATATATAA ATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3493		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235195	T T	TATATATA others(31): Show TATATATAAATAAATATATATATATATATATATAAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG02257.hp2 others(2): Show HG00597.hp1 HG00639.hp2 HG02257.hp2 HG03195.hp1 HG03831.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0004 a0003c0009 a0001c0005 a0002c0004 a0003c0009	a0001c0005t0001 a0002c0004t0001 a0003c0009t0001 a0001c0005t0001 a0002c0004t0001 a0003c0009t0001	a0001c0005t0001g0117 a0001c0005t0001g0118 a0002c0004t0001g0130 others(2): Show a0001c0005t0001g0117 a0001c0005t0001g0118 a0002c0004t0001g0130 a0002c0004t0001g0168 a0003c0009t0001g0171	5	402	0.0124	38	c.-37 others(49): Show c.-3714_-3713insATATATAAATAAATATATATATATATATATATAA ATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3493		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235201	A A	AATAAATA others(31): Show AATAAATATATATATATATATATATAAATAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01891.hp1 HG03453.hp2 HG01358.hp1 HG01891.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0001 a0001c0002t0001 a0002c0004t0001	a0001c0002t0001g0358 a0001c0002t0001g0359 a0002c0004t0001g0140 a0001c0002t0001g0358 a0001c0002t0001g0359 a0002c0004t0001g0140	3	402	0.0075	38	c.-37 others(49): Show c.-3708_-3707insATAAATATATATATATATATATATAAATAAATAT ATAT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3487		chr16	TogoVar

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