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
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG01258.hp2 others(7): Show HG00738.hp1 HG01175.hp2 HG01258.hp2 HG01358.hp1 HG01516.hp2 HG02145.hp2 HG02818.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0231 a0001c0001t0005g0254 a0001c0001t0007g0016 others(7): Show a0001c0001t0001g0231 a0001c0001t0005g0254 a0001c0001t0007g0016 a0001c0001t0007g0020 a0001c0001t0007g0028 a0001c0001t0007g0112 a0001c0001t0015g0249 a0002c0002t0002g0029 a0002c0002t0002g0111 a0002c0002t0003g0250	10	268	0.0373	34	c.106 others(53): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATATATA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNT5_chr3_183248253_183278385	183269230	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	390	0.0026	34	c.-30 others(51): Show c.-301-250_-301-249insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	82946569	A A	AGTGTGTG others(27): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18960.hp1 NA18945.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0231 a0001c0001t0009g0232	2	266	0.0075	34	c.24 others(49): Show c.24+309_*24+310insACACACACACACACACACACACACACACAC ACAC		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	12/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82958796	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTATACTGTGTGGGGGTGTATG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02559.hp1 HG02976.hp2 others(2): Show HG01074.hp1 HG02559.hp1 HG02976.hp2 HG03195.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0011 a0003c0021 others(2): Show a0001c0001 a0001c0011 a0003c0021 a0003c0024 a0003c0025	a0001c0001t0017 a0001c0011t0017 a0003c0021t0035 others(2): Show a0001c0001t0017 a0001c0011t0017 a0003c0021t0035 a0003c0024t0010 a0003c0025t0011	a0001c0001t0017g0177 a0001c0011t0017g0145 a0003c0021t0035g0187 others(2): Show a0001c0001t0017g0177 a0001c0011t0017g0145 a0003c0021t0035g0187 a0003c0024t0010g0151 a0003c0025t0011g0054	5	266	0.0188	34	c.681 others(51): Show c.681-1336_681-1303dupCATACACCCCCACACAGTATACACACAC ACACAC		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972124	A A	ATGGGCCA others(27): Show ATGGGCCAGAAGGACCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0017 a0001c0006t0001g0017	1	266	0.0038	34	c.460 others(51): Show c.460-6379_460-6378insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972276	A A	AGGGGCTA others(27): Show AGGGGCTAGAAGGACCTGGTGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0015 a0001c0006t0018g0015	1	266	0.0038	34	c.460 others(51): Show c.460-6531_460-6530insGTGTGGTGTGTCGGCACCAGGTCCTTCT AGCCCC		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972315	A A	AGGGGCTA others(27): Show AGGGGCTAGAAGGACCTGGTGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0199 a0001c0003t0015g0199	1	266	0.0038	34	c.460 others(51): Show c.460-6570_460-6569insGTGTGGTGTGTCGGCACCAGGTCCTTCT AGCCCC		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B4GALNT3_chr12_454939_568509	511438	C C	CCTTCCAC others(27): Show CCTTCCACCTTCCACCTTCTTCCACCTTCCACCTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp2 HG02647.hp2 HG03139.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0015 a0001c0001 a0011c0015	a0001c0001t0074 a0011c0015t0039 a0001c0001t0074 a0011c0015t0039	a0001c0001t0074g0306 a0011c0015t0039g0303 a0001c0001t0074g0306 a0011c0015t0039g0303	2	394	0.0051	34	c.170 others(53): Show c.170-23716_170-23683dupCACCTTCTTCCACCTTCCACCTTCTT CCACCTTC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	545950	G G	GTGCGAGG others(27): Show GTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0383 a0001c0044t0001g0383	1	394	0.0025	34	c.639 others(49): Show c.639+484_639+517dupCGAGGAGTGGGGAGGTGAGAGGAGTGGGGA GATG		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374778	A A	AAGGGAGG others(27): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	184	0.0054	34	c.784 others(49): Show c.784-705_784-672dupGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375107	A A	AGGAAGGG others(27): Show AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0118 a0005c0009t0001g0118	1	184	0.0054	34	c.784 others(49): Show c.784-325_784-324insGAGGGGGAAGGGAGGGAGGAGGAAGGGAGG GAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33157063	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	366	0.0027	34	c.412 others(51): Show c.412+9661_412+9694dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT		B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5						chr9	TogoVar
BABAM2_chr2_27885729_28343901	28026967	T T	TAAATATA others(27): Show TAAATATATATATAAATATATATTAATATATATAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	158	0.0063	34	c.495 others(51): Show c.495+1548_495+1549insAATATATATATAAATATATATTAATATA TATAAA		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BAG6_chr6_31634028_31657661	31643721	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0233 a0001c0007t0001g0233	1	427	0.0023	34	c.175 others(51): Show c.1756+168_1756+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		BAG6	ENSG00000204463.14	transcript	ENST00000676615.2	protein_coding	14/25						chr6	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02165.hp2 HG01261.hp1 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0205 a0001c0002t0001g0137 a0001c0002t0001g0205	2	298	0.0067	34	c.128 others(51): Show c.128-1893_128-1892insATATATATATATATATATATATTTTTTT TTTTTT		BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13						chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0174 a0001c0002t0001g0174	1	298	0.0034	34	c.128 others(51): Show c.128-1893_128-1892insATATATATATATATATATATATATTTTT TTTTTT		BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13						chr7	TogoVar
BAMBI_chr10_28672521_28687932	28685609	T T	TGAAAAAA others(27): Show TGAAAAAATTGATCTGTGCATGGTTATGTCTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG01081.hp2 others(4): Show HG00140.hp2 HG00733.hp1 HG01081.hp2 HG01168.hp2 HG01361.hp2 HG02818.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0003g0005 a0001c0001t0003g0042 others(1): Show a0001c0001t0002g0003 a0001c0001t0003g0005 a0001c0001t0003g0042 a0001c0001t0003g0051	7	436	0.0161	34	c.32 others(45): Show c.3208_*3209insGAAAAAATTGATCTGTGCATGGTTATGTCTTTTA		BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding					2678		chr10	TogoVar
BANF2_chr20_17694966_17740871	17705048	T T	TTGGCCAG others(27): Show TTGGCCAGGCCTGGTCATGTGTGTTGTTACCTCAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02258.hp2 HG02280.hp2 others(4): Show HG02071.hp1 HG02258.hp2 HG02280.hp2 HG02895.hp2 HG03130.hp2 HG03579.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0002 a0001c0001t0002 a0003c0005t0002	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 others(3): Show a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0003c0005t0002g0023 a0003c0005t0002g0058	7	400	0.0175	34	c.-16 others(53): Show c.-167+5061_-167+5094dupCTGGCCAGGCCTGGTCATGTGTGTTG TTACCTCA		BANF2	ENSG00000125888.15	transcript	ENST00000246090.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
BANK1_chr4_101785730_102079812	101947309	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	284	0.0035	34	c.120 others(55): Show c.1206+29123_1206+29124insATATATATATATATATATATATAT ATATATGTAT		BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	102007092	A A	ATATATTT others(27): Show ATATATTTATATATATATATATATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	284	0.0035	34	c.120 others(55): Show c.1207-14422_1207-14421insTATATTTATATATATATATATATA TATATTATAT		BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16						chr4	TogoVar
BANK1_chr4_101785730_102079812	102007144	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0022 a0004c0005t0001g0022	1	284	0.0035	34	c.120 others(55): Show c.1207-14369_1207-14368insATATATATATATATATATATATAT ATATATATAT		BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	102007146	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0075 a0004c0005t0001g0075	1	284	0.0035	34	c.120 others(55): Show c.1207-14344_1207-14343insTATATATATATATATATATATATA TATATATATA		BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	88019628	G G	GCGGGATC others(27): Show GCGGGATCTCAGCGGTGCGGGGGGGCGGGGGCGTC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	352	0.0028	34	c.895 others(49): Show c.895+974_895+975insGTGCGGGGGGGCGGGGGCGTCCGGGATCTC AGCG		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
BASP1_chr5_17212631_17281834	17217071	T T	TGTGAGAG others(27): Show TGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 NA18950.hp2 HG02735.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0019 a0001c0001t0011g0020 a0001c0001t0005g0019 a0001c0001t0011g0020	2	370	0.0054	34	c.-74 others(43): Show c.-749_-748insGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA		BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding					559		chr5	TogoVar
BAZ1A_chr14_34747731_34880360	34832213	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0189 a0001c0002t0003g0189	1	380	0.0026	34	c.393 others(51): Show c.393-6058_393-6057insATATATATATATATATATATATATATAT ATATAT		BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26						chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(27): Show CACACACACACACACACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0134	1	380	0.0026	34	c.393 others(51): Show c.393-6060_393-6059insATATATATATGTGTGTGTGTGTGTGTGT GTGTGT		BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26						chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(27): Show CACACACACACACACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp2 NA19085.hp1 HG02723.hp2 HG03130.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0078 a0001c0002t0002g0097 a0001c0002t0002g0098	3	380	0.0079	34	c.393 others(51): Show c.393-6060_393-6059insATATATATATATGTGTGTGTGTGTGTGT GTGTGT		BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26						chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(27): Show CACACACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04228.hp2 HG04204.hp1 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0341 a0001c0004t0004g0358 a0001c0004t0004g0341 a0001c0004t0004g0358	2	380	0.0053	34	c.393 others(51): Show c.393-6060_393-6059insATATATATATATATATATATATATGTGT GTGTGT		BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26						chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(27): Show CACACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0356 a0001c0004t0004g0356	1	380	0.0026	34	c.393 others(51): Show c.393-6060_393-6059insATATATATATATATATATATATATATGT GTGTGT		BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26						chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(27): Show CACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03017.hp2 HG03831.hp2 HG01175.hp1 HG03017.hp2 HG03831.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0344 a0001c0004t0004g0346 a0001c0004t0004g0350 a0001c0004t0004g0344 a0001c0004t0004g0346 a0001c0004t0004g0350	3	380	0.0079	34	c.393 others(51): Show c.393-6060_393-6059insATATATATATATATATATATATATATAT GTGTGT		BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26						chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACATATA others(27): Show CACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03710.hp1 HG02630.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0004 a0002c0006t0002 a0001c0004t0004 a0002c0006t0002	a0001c0004t0004g0044 a0002c0006t0002g0054 a0001c0004t0004g0044 a0002c0006t0002g0054	2	380	0.0053	34	c.393 others(51): Show c.393-6060_393-6059insATATATATATATATATATATATATATAT ATATGT		BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26						chr14	TogoVar
BAZ2A_chr12_56590596_56635326	56597637	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0074 a0001c0002t0074	a0001c0002t0074g0213 a0001c0002t0074g0213	1	316	0.0032	34	c.94 others(43): Show c.947_*980dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT		BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29				980		chr12	TogoVar
BBS12_chr4_122727704_122749939	122742768	G G	GCAATATC others(27): Show GCAATATCAGAATGCTTGTGTGCAACAAGGCAACT	frameshift_variant frameshift_variant	HIGH	HG02922.hp1 HG02922.hp1	a0017 a0017	a0017c0015 a0017c0015	a0017c0015t0001 a0017c0015t0001	a0017c0015t0001g0086 a0017c0015t0001g0086	1	364	0.0028	34	c.877 others(41): Show c.877_910dupCAATATCAGAATGCTTGTGTGCAACAAGGCAACT	p.Cys others(5): Show p.Cys304fs	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	2/2	1102/3238	911/2133	304/710		INFO_REALIGN_3_PRIME	chr4	TogoVar
BBS4_chr15_72681207_72743473	72730734	G G	GATCTGAA others(27): Show GATCTGAAGAAACATTAGACTGTCCGCTCACATGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0379 a0001c0001t0001g0379	1	398	0.0025	34	c.712 others(49): Show c.712-571_712-570insATCTGAAGAAACATTAGACTGTCCGCTCAC ATGA		BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	10/15						chr15	TogoVar
BBS9_chr7_33124564_33611069	33236460	A A	ACATACAT others(27): Show ACATACATACTTTAAACAAAATGGGTTATACTGTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02132.hp2 HG00558.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0104 a0001c0001t0002g0105 a0001c0001t0001g0104 a0001c0001t0002g0105	2	268	0.0075	34	c.443 others(53): Show c.443-20772_443-20739dupACATACTTTAAACAAAATGGGTTATA CTGTCCAT		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18988.hp2 NA18962.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0019 a0001c0001t0013 a0001c0001t0019	a0001c0001t0013g0079 a0001c0001t0019g0092 a0001c0001t0013g0079 a0001c0001t0019g0092	2	222	0.0090	34	c.235 others(53): Show c.2354-1159_2354-1158insTATATATATATATATATATATATATA TATATATA		BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAP29_chr7_107575246_107625478	107591641	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG03225.hp1 others(5): Show HG00408.hp1 HG00639.hp1 HG03225.hp1 NA18983.hp1 NA19006.hp2 NA19082.hp1 NA19085.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0001 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0011 a0001c0001t0001g0087 a0001c0001t0001g0088 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0111 a0001c0001t0001g0336 a0001c0001t0004g0184 a0001c0001t0018g0089	8	398	0.0201	34	c.194 others(51): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACAC		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(27): Show ACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG01175.hp1 others(6): Show HG00642.hp1 HG01070.hp2 HG01175.hp1 HG02040.hp2 HG02145.hp1 HG03927.hp1 NA18964.hp1 NA18964.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0003g0202 others(6): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0003g0202 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0004g0185 a0001c0001t0019g0048	9	398	0.0226	34	c.194 others(51): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACCC		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(27): Show ACACACACACACACACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0189 a0001c0001t0004g0189	1	398	0.0025	34	c.194 others(51): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACCCCC		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(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0055 a0004c0009t0001g0055	1	74	0.0135	34	c.122 others(55): Show c.1222-16386_1222-16385insTATATATATATATATATATATATA TATATATATA		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23						chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045988	T T	TAAATATA others(27): Show TAAATATATATATTTATATATATATAATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	74	0.0135	34	c.202 others(53): Show c.2029+5096_2029+5097insAAATATATATATTTATATATATATAA TATATATA		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23						chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	74	0.0135	34	c.259 others(53): Show c.2593+6761_2593+6762insGTGTGTGTGCGCGCGCGCGCGCACAT GTGTGTGT		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24936712	A A	ATCTCTCT others(27): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01168.hp2 HG01361.hp2 others(7): Show HG00621.hp1 HG01168.hp2 HG01361.hp2 HG01934.hp2 HG02071.hp2 HG02135.hp1 HG02280.hp2 HG02602.hp1 HG03669.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0060 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0060 a0001c0001t0103 a0001c0002t0031	a0001c0001t0001g0037 a0001c0001t0001g0165 a0001c0001t0001g0218 others(7): Show a0001c0001t0001g0037 a0001c0001t0001g0165 a0001c0001t0001g0218 a0001c0001t0001g0248 a0001c0001t0003g0025 a0001c0001t0003g0048 a0001c0001t0060g0097 a0001c0001t0103g0049 a0001c0002t0031g0036 a0001c0002t0031g0241	10	322	0.0311	34	c.6+1 others(49): Show c.6+12214_6+12215insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA		BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10						chr12	TogoVar
BCL2L10_chr15_52104263_52117775	52111173	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	458	0.0022	34	c.489 others(51): Show c.489+1031_489+1064dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding	1/1						chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	458	0.0022	34	c.-43 others(45): Show c.-4377_-4376insAAAATATATATATATATATATATATATATATATA		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	458	0.0022	34	c.-43 others(45): Show c.-4377_-4376insAAAAAAAAAAAAAAAATATATATATATATATATA		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(27): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	458	0.0022	34	c.-43 others(45): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAAATATATATATATA		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111169212	A A	AGTGTGTG others(27): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG03486.hp2 HG03579.hp2 others(1): Show HG01175.hp2 HG03486.hp2 HG03579.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0153 a0001c0001t0015g0154 a0001c0001t0015g0155 others(1): Show a0001c0001t0015g0153 a0001c0001t0015g0154 a0001c0001t0015g0155 a0001c0001t0015g0156	4	398	0.0101	34	c.49 others(45): Show c.4981_*4982insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT		BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding					769		chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17717380	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0049 a0004c0006t0049	a0004c0006t0049g0091 a0004c0006t0049g0091	1	306	0.0033	34	c.601 others(51): Show c.601-9291_601-9290insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2_chr18_63118346_63324769	63207506	C C	CTCTGATT others(27): Show CTCTGATTGTTCCAGACTGCCTGGGAGCACCAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00639.hp1 others(22): Show HG00544.hp1 HG00597.hp2 HG00639.hp1 HG01255.hp1 HG01257.hp1 HG01433.hp2 HG01891.hp2 HG01978.hp2 HG01993.hp2 HG02293.hp2 HG02523.hp1 HG02615.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp1 NA18939.hp1 NA18962.hp2 NA18964.hp2 NA18971.hp2 NA18993.hp1 NA19060.hp1 NA19084.hp2 NA19240.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0052 a0001c0002t0002 a0001c0002t0034 a0001c0004t0006 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004	a0001c0001t0001g0112 a0001c0001t0001g0197 a0001c0001t0001g0199 others(22): Show a0001c0001t0001g0112 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0003g0105 a0001c0001t0003g0192 a0001c0001t0004g0203 a0001c0001t0005g0115 a0001c0001t0005g0130 a0001c0001t0007g0218 a0001c0001t0011g0033 a0001c0001t0014g0135 a0001c0001t0052g0230 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0053 a0001c0002t0002g0078 a0001c0002t0034g0072 a0001c0004t0006g0038 a0002c0003t0001g0094 a0002c0003t0003g0095 a0002c0003t0004g0097	25	264	0.0947	34	c.586 others(53): Show c.586-78781_586-78748dupCTCTGGTGCTCCCAGGCAGTCTGGAA CAATCAGA		BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2						chr18	TogoVar

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