Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BIRC2_chr11_102342214_102383670	102365743	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp1 HG03471.hp2 others(1): Show HG02970.hp1 HG03209.hp1 HG03471.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0025 a0001c0001t0002g0286 a0001c0001t0002g0287	4	344	0.0116	16	c.112 others(35): Show c.1123+2040_1123+2055dupGTGTGTGTGTGTGTGT	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342340	G G	GTGTATTT others(9): Show GTGTATTTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 NA18946.hp2 NA18971.hp2 others(2): Show HG04204.hp2 NA18946.hp2 NA18971.hp2 NA18998.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0034 a0001c0002t0001 a0001c0001t0034 a0001c0002t0001	a0001c0001t0034g0130 a0001c0002t0001g0003 a0001c0002t0001g0041 a0001c0001t0034g0130 a0001c0002t0001g0003 a0001c0002t0001g0041	5	384	0.0130	16	c.52 others(27): Show c.5238_*5239insTGTATTTATATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2938		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342340	G G	GTGTGTAT others(9): Show GTGTGTATTTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	384	0.0026	16	c.52 others(27): Show c.5238_*5239insTGTGTATTTATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2938		chr11	TogoVar
BIRC6_chr2_32352023_32623878	32397574	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03130.hp1 NA18522.hp2 HG02257.hp2 HG03130.hp1 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0007 a0001c0030 a0004c0019 a0001c0007 a0001c0030 a0004c0019	a0001c0007t0004 a0001c0030t0004 a0004c0019t0003 a0001c0007t0004 a0001c0030t0004 a0004c0019t0003	a0001c0007t0004g0018 a0001c0030t0004g0016 a0004c0019t0003g0142 a0001c0007t0004g0018 a0001c0030t0004g0016 a0004c0019t0003g0142	3	274	0.0110	16	c.103 others(35): Show c.1034+1997_1034+2012dupGTGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	6/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32431181	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18952.hp2 NA20805.hp2 HG02280.hp2 NA18952.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0023 a0001c0001 a0001c0005 a0001c0023	a0001c0001t0001 a0001c0005t0001 a0001c0023t0001 a0001c0001t0001 a0001c0005t0001 a0001c0023t0001	a0001c0001t0001g0190 a0001c0005t0001g0230 a0001c0023t0001g0229 a0001c0001t0001g0190 a0001c0005t0001g0230 a0001c0023t0001g0229	3	274	0.0110	16	c.324 others(33): Show c.3248+108_3248+123dupTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	12/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461343	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0038 a0001c0037t0001g0038	1	274	0.0037	16	c.475 others(35): Show c.4754-1826_4754-1811dupGTGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32480621	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA20905.hp1 HG02055.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0112 a0002c0002t0003g0042 a0002c0002t0002g0112 a0002c0002t0003g0042	2	274	0.0073	16	c.740 others(33): Show c.7409-677_7409-662dupTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32504034	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02293.hp2 HG01928.hp1 HG02293.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0003 a0001c0006t0003g0005 a0001c0006t0003g0003 a0001c0006t0003g0005	2	274	0.0073	16	c.949 others(33): Show c.9499+826_9499+841dupGTGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	49/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32508276	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	274	0.0037	16	c.998 others(31): Show c.9980+29_9980+44dupTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	51/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32532134	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01074.hp1 others(34): Show HG00280.hp2 HG00735.hp2 HG01074.hp1 HG01109.hp2 HG01361.hp1 HG01433.hp1 HG01975.hp2 HG02015.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02273.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03540.hp1 HG03704.hp1 HG04199.hp2 HG04228.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18964.hp2 NA19012.hp2 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19091.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(8): Show a0001c0001 a0001c0003 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0002c0002 a0002c0016 a0002c0034	a0001c0001t0001 a0001c0003t0003 a0001c0008t0003 others(9): Show a0001c0001t0001 a0001c0003t0003 a0001c0008t0003 a0001c0010t0002 a0001c0011t0001 a0001c0012t0003 a0001c0014t0003 a0001c0015t0001 a0002c0002t0002 a0002c0002t0003 a0002c0016t0002 a0002c0034t0001	a0001c0001t0001g0050 a0001c0001t0001g0101 a0001c0001t0001g0192 others(34): Show a0001c0001t0001g0050 a0001c0001t0001g0101 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0003t0003g0034 a0001c0003t0003g0037 a0001c0003t0003g0125 a0001c0003t0003g0128 a0001c0003t0003g0131 a0001c0003t0003g0137 a0001c0003t0003g0147 a0001c0008t0003g0060 a0001c0010t0002g0253 a0001c0011t0001g0209 a0001c0012t0003g0272 a0001c0012t0003g0273 a0001c0014t0003g0157 a0001c0015t0001g0097 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0072 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0016t0002g0090 a0002c0034t0001g0222	37	274	0.1350	16	c.122 others(35): Show c.12291+605_12291+620dupTGTGTGTGTGTGTGTG	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	61/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578989	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp1 HG03239.hp1 others(1): Show HG00280.hp1 HG01168.hp1 HG03239.hp1 NA20905.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0002 a0001c0006t0003g0008 a0001c0006t0003g0009 others(1): Show a0001c0006t0003g0002 a0001c0006t0003g0008 a0001c0006t0003g0009 a0001c0006t0003g0010	4	274	0.0146	16	c.133 others(37): Show c.13355+3624_13355+3625insTATATATATATATACA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG01168.hp2 others(40): Show HG00438.hp2 HG00673.hp1 HG01168.hp2 HG01433.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02523.hp1 HG02602.hp2 HG03017.hp2 HG04184.hp2 HG04228.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18949.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18985.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19060.hp1 NA19064.hp2 NA19072.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19088.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0034 a0001c0001t0035 a0002c0006t0002	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 others(27): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0137 a0001c0001t0004g0287 a0001c0001t0004g0301 a0001c0001t0014g0068 a0001c0001t0017g0061 a0001c0001t0018g0069 a0001c0001t0034g0006 a0001c0001t0035g0103 a0002c0006t0002g0025	43	404	0.1064	16	c.103 others(35): Show c.1035-1136_1035-1121dupTTTTTTTTTTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLK_chr8_11489387_11569599	11535261	G G	GAAGAAAG others(9): Show GAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp2 HG01358.hp2 others(6): Show HG00323.hp1 HG01109.hp2 HG01358.hp2 HG01981.hp2 HG02886.hp2 NA18964.hp1 NA18974.hp1 NA19056.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0001c0011t0001	a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0002g0045 others(6): Show a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0002g0045 a0001c0002t0001g0148 a0001c0002t0003g0265 a0001c0002t0003g0270 a0001c0002t0005g0279 a0001c0002t0012g0250 a0001c0011t0001g0223	9	308	0.0292	16	c.-1- others(31): Show c.-1-7914_-1-7899dupAAGAAAGAAAGAAAGA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLMH_chr17_30243203_30296944	30279447	T T	TAAACTAA others(9): Show TAAACTAACCTAAAACA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	298	0.0034	16	c.646 others(33): Show c.646-5266_646-5251dupTGTTTTAGGTTAGTTT	BLMH	ENSG00000108578.15	transcript	ENST00000261714.11	protein_coding	6/11			chr17	TogoVar
BLMH_chr17_30243203_30296944	30293828	G G	GTGTAAAA others(9): Show GTGTAAAAAAAGAAACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	298	0.0034	16	c.-20 others(27): Show c.-2010_-2009insAGTTTCTTTTTTTACA	BLMH	ENSG00000108578.15	transcript	ENST00000261714.11	protein_coding		1885		chr17	TogoVar
BLM_chr15_90712346_90821166	90735236	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03139.hp2 HG02717.hp1 HG03139.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0001 a0004c0012t0002 a0001c0001t0001 a0004c0012t0002	a0001c0001t0001g0271 a0004c0012t0002g0266 a0001c0001t0001g0271 a0004c0012t0002g0266	2	280	0.0071	16	c.-4- others(33): Show c.-4-12132_-4-12117dupATATATATATATATAT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90778889	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01243.hp2 HG01891.hp1 others(6): Show HG00597.hp1 HG01243.hp2 HG01891.hp1 HG01981.hp2 HG03579.hp1 HG03834.hp1 NA18906.hp1 NA19083.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0002c0004 a0004c0008	a0001c0001t0002 a0001c0002t0001 a0001c0010t0001 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0010t0001 a0002c0004t0001 a0004c0008t0002	a0001c0001t0002g0014 a0001c0002t0001g0057 a0001c0002t0001g0094 others(6): Show a0001c0001t0002g0014 a0001c0002t0001g0057 a0001c0002t0001g0094 a0001c0002t0001g0123 a0001c0002t0001g0193 a0001c0002t0001g0259 a0001c0010t0001g0041 a0002c0004t0001g0257 a0004c0008t0002g0073	9	280	0.0321	16	c.255 others(35): Show c.2556-3919_2556-3918insTTTTTTTTTTTTTTTT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90789987	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0034 a0004c0006t0002g0034	1	280	0.0036	16	c.282 others(33): Show c.2824-641_2824-626dupTTTTTTTTTTTTTTTT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLNK_chr10_96184171_96276569	96229654	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	322	0.0031	16	c.204 others(33): Show c.204+1124_204+1139dupCACACACACACACACA	BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	4/16			chr10	TogoVar
BLOC1S1_chr12_55711046_55724703	55714517	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02630.hp1 HG02886.hp1 others(3): Show HG02486.hp1 HG02630.hp1 HG02886.hp1 HG02970.hp1 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0023 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0002g0020	6	410	0.0146	16	c.-15 others(27): Show c.-1535_-1534insAAAAAAAAAAAAAAAA	BLOC1S1	ENSG00000135441.8	transcript	ENST00000548925.6	protein_coding		1528		chr12	TogoVar
BLOC1S2_chr10_100268293_100291680	100281711	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01168.hp2 HG01169.hp2 others(14): Show HG00408.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01346.hp1 HG01496.hp1 HG02040.hp1 NA18945.hp1 NA18948.hp1 NA18959.hp2 NA18960.hp2 NA18998.hp2 NA19000.hp1 NA19030.hp2 NA19067.hp1 NA19088.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0002c0002t0013 a0001c0001t0001 a0002c0002t0003 a0002c0002t0013	a0001c0001t0001g0017 a0001c0001t0001g0182 a0001c0001t0001g0183 others(10): Show a0001c0001t0001g0017 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0002c0002t0003g0020 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0249 a0002c0002t0013g0244	17	378	0.0450	16	c.173 others(31): Show c.173-674_173-659dupGTGTGTGTGTGTGTGT	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	2/4			chr10	TogoVar
BLOC1S5_chr6_8008567_8069389	8030865	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02622.hp1 HG02965.hp1 others(4): Show HG01099.hp2 HG02622.hp1 HG02965.hp1 HG03195.hp1 HG03688.hp2 HG03710.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 others(4): Show a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0280 a0001c0001t0005g0282 a0001c0001t0005g0287 a0001c0001t0005g0305	7	364	0.0192	16	c.326 others(33): Show c.326-4441_326-4440insTTTTTTTTTTTTTTTT	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	3/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(9): Show TCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0147 a0001c0001t0018g0147	1	364	0.0028	16	c.196 others(33): Show c.196-5893_196-5892insTGTGTGAGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(9): Show TCTCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01069.hp2 others(29): Show HG00639.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01261.hp2 HG01928.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp1 HG03491.hp2 HG03492.hp2 HG04204.hp1 NA18945.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA19003.hp2 NA19006.hp1 NA19060.hp1 NA19074.hp2 NA19086.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0005 others(21): Show a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0015 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248	32	364	0.0879	16	c.196 others(33): Show c.196-5893_196-5892insTGTGAGAGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(9): Show TCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0226 a0001c0001t0003g0226	1	364	0.0028	16	c.196 others(33): Show c.196-5893_196-5892insTGAGAGAGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLTP1_chr4_122147331_122367752	122262148	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG01099.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0037 a0001c0002t0001g0020 a0001c0002t0001g0037	2	336	0.0060	16	c.676 others(33): Show c.6763-592_6763-577dupGTGTGTGTGTGTGTGT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	42/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03927.hp2 HG02738.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0321 a0001c0001t0001g0311 a0001c0001t0001g0321	2	336	0.0060	16	c.749 others(33): Show c.7493+103_7493+118dupTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122321979	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01168.hp2 HG01169.hp1 others(7): Show HG00621.hp2 HG01168.hp2 HG01169.hp1 HG02165.hp2 NA18942.hp1 NA18964.hp2 NA18986.hp2 NA19004.hp1 NA19056.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 a0001c0001t0001 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0003t0001g0177 others(7): Show a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0003t0001g0177 a0002c0004t0001g0049 a0002c0004t0001g0129 a0002c0004t0001g0134 a0002c0004t0001g0136 a0002c0004t0001g0137 a0002c0004t0001g0149 a0002c0004t0001g0234	10	336	0.0298	16	c.109 others(37): Show c.10996-2427_10996-2412dupTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3B_chr12_100032072_100147874	100098919	C C	CAGATAGA others(9): Show CAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0009 a0009	a0009c0027 a0009c0027	a0009c0027t0001 a0009c0027t0001	a0009c0027t0001g0033 a0009c0027t0001g0033	1	188	0.0053	16	c.339 others(31): Show c.339-379_339-378insATCTATCTATCTATCT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	4/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100098931	T T	TAGATAGA others(9): Show TAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG03834.hp1 HG02572.hp2 HG03130.hp1 HG03834.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0039 a0003c0002t0001g0043 a0003c0002t0001g0045 a0003c0002t0001g0039 a0003c0002t0001g0043 a0003c0002t0001g0045	3	188	0.0160	16	c.339 others(31): Show c.339-391_339-390insGTCTATCTATCTATCT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	4/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100124936	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18987.hp1 HG01433.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0060 a0001c0001t0001g0072	2	188	0.0106	16	c.45- others(33): Show c.45-16404_45-16389dupTATATATATATATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRB_chr19_40442768_40470745	40460245	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03710.hp1 HG03491.hp2 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0175 a0001c0002t0001g0176	2	362	0.0055	16	c.80- others(31): Show c.80-1701_80-1700insATATATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLZF1_chr1_169363195_169393305	169375393	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 HG02976.hp2 HG02280.hp1 HG02809.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	3	366	0.0082	16	c.29- others(31): Show c.29-1124_29-1109dupATATATATATATATAT	BLZF1	ENSG00000117475.14	transcript	ENST00000367808.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
BMAL1_chr11_13272790_13392266	13314229	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18946.hp1 NA18969.hp1 others(12): Show HG02523.hp1 NA18946.hp1 NA18969.hp1 NA18970.hp1 NA18981.hp1 NA18983.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19057.hp2 NA19086.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0049 others(12): Show a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0187 a0001c0001t0001g0188	15	314	0.0478	16	c.-19 others(35): Show c.-190+4198_-190+4213dupACACACACACACACAC	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13325657	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19240.hp2 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0121 a0001c0001t0001g0008 a0001c0001t0001g0121	2	314	0.0064	16	c.-18 others(33): Show c.-189-733_-189-718dupTGTGTGTGTGTGTGTG	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13339430	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp1 HG03195.hp1 others(2): Show HG02717.hp1 HG02896.hp1 HG03195.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0212 others(2): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0304	5	314	0.0159	16	c.-13 others(37): Show c.-134-10503_-134-10488dupCACACACACACACACA	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL2_chr12_27327836_27430286	27360803	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01928.hp1 HG02258.hp1 others(6): Show HG01081.hp2 HG01928.hp1 HG02258.hp1 HG02572.hp2 HG02886.hp1 HG03540.hp1 HG03540.hp2 NA18977.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014	a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0173 others(6): Show a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0194 a0001c0001t0002g0211 a0001c0001t0005g0165 a0001c0001t0014g0217	9	310	0.0290	16	c.32- others(31): Show c.32-7452_32-7437dupAAAAAAAAAAAAAAAA	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMAL2_chr12_27327836_27430286	27420019	G G	GCGCACGC others(9): Show GCGCACGCGCACACACA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03017.hp1 HG02735.hp2 HG03017.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0024 a0003c0003t0043 a0003c0003t0024 a0003c0003t0043	a0003c0003t0024g0210 a0003c0003t0043g0013 a0003c0003t0024g0210 a0003c0003t0043g0013	2	310	0.0065	16	c.177 others(33): Show c.1775-376_1775-375insGCACGCGCACACACAC	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMAL2_chr12_27327836_27430286	27420019	G G	GCGCGCGC others(9): Show GCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02257.hp2 HG02572.hp2 others(3): Show HG01169.hp1 HG02257.hp2 HG02572.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0021 a0001c0001t0005 a0001c0001t0014 a0001c0001t0021	a0001c0001t0005g0091 a0001c0001t0014g0213 a0001c0001t0014g0216 others(3): Show a0001c0001t0005g0091 a0001c0001t0014g0213 a0001c0001t0014g0216 a0001c0001t0014g0217 a0001c0001t0021g0025 a0001c0001t0021g0096	6	310	0.0194	16	c.177 others(33): Show c.1775-376_1775-375insGCGCGCACACACACAC	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMAL2_chr12_27327836_27430286	27420019	G G	GCGCGCGC others(9): Show GCGCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02451.hp2 HG03225.hp1 others(6): Show HG00438.hp1 HG02451.hp2 HG03225.hp1 NA18968.hp1 NA18988.hp1 NA19004.hp2 NA19007.hp2 NA19078.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0023 a0001c0001t0036 others(1): Show a0001c0001t0004 a0001c0001t0023 a0001c0001t0036 a0001c0001t0042	a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0021 others(6): Show a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0021 a0001c0001t0004g0111 a0001c0001t0004g0192 a0001c0001t0023g0054 a0001c0001t0023g0057 a0001c0001t0036g0223 a0001c0001t0042g0254	9	310	0.0290	16	c.177 others(33): Show c.1775-376_1775-375insGCGCGCGCACACACAC	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTCTTTTT others(9): Show GTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	291	0.0034	16	c.106 others(33): Show c.106+9365_106+9366insCTTTTTTTTTTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG02622.hp2 others(6): Show HG01361.hp2 HG01884.hp1 HG02622.hp2 HG02897.hp2 HG04184.hp2 NA18968.hp2 NA18978.hp2 NA18990.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0002t0001 a0001c0002t0021	a0001c0001t0001g0129 a0001c0001t0002g0130 a0001c0001t0002g0168 others(6): Show a0001c0001t0001g0129 a0001c0001t0002g0130 a0001c0001t0002g0168 a0001c0001t0002g0194 a0001c0001t0003g0165 a0001c0001t0004g0195 a0001c0001t0012g0212 a0001c0002t0001g0154 a0001c0002t0021g0155	9	291	0.0309	16	c.106 others(33): Show c.106+9376_106+9391dupTTTTTTTTTTTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15452331	G G	GGAGAGAG others(9): Show GGAGAGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	291	0.0034	16	c.106 others(35): Show c.106+17579_106+17580insGGAGGGAGAGAGAGAG	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15519074	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18965.hp2 NA18966.hp1 NA18946.hp2 NA18965.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0146 a0001c0001t0003g0101 a0001c0001t0001g0014 a0001c0001t0001g0146 a0001c0001t0003g0101	3	291	0.0103	16	c.230 others(33): Show c.230+3665_230+3680dupACACACACACACACAC	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15529015	G G	GTGTTTGT others(9): Show GTGTTTGTTTGTTTGTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	291	0.0034	16	c.230 others(35): Show c.230+13602_230+13617dupTTTGTTTGTTTGTTTG	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591594	A A	AACACACA others(9): Show AACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01516.hp2 HG02818.hp1 HG01496.hp2 HG01516.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0010g0025 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0010g0025	3	291	0.0103	16	c.47 others(27): Show c.4765_*4766insACACACACACACACAC	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3336		chr16	TogoVar
BMF_chr15_40082890_40113879	40106517	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00597.hp2 others(65): Show HG00099.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp1 HG02273.hp1 HG02273.hp2 HG02559.hp2 HG02886.hp1 HG03491.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18951.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18973.hp2 NA18975.hp1 NA18988.hp1 NA18993.hp2 NA18997.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19054.hp1 NA19055.hp1 NA19060.hp2 NA19070.hp2 NA19077.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0049 a0001c0002t0001	a0001c0001t0001g0150 a0001c0001t0001g0167 a0001c0001t0001g0195 others(60): Show a0001c0001t0001g0150 a0001c0001t0001g0167 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0347 a0001c0001t0002g0015 a0001c0001t0002g0122 a0001c0001t0002g0166 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0283 a0001c0001t0002g0290 a0001c0001t0002g0331 a0001c0001t0003g0199 a0001c0001t0004g0016 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0346 a0001c0001t0005g0170 a0001c0001t0005g0232 a0001c0001t0005g0240 a0001c0001t0005g0329 a0001c0001t0005g0349 a0001c0001t0006g0168 a0001c0001t0006g0172 a0001c0001t0008g0126 a0001c0001t0009g0012 a0001c0001t0009g0169 a0001c0001t0009g0171 a0001c0001t0009g0373 a0001c0001t0010g0289 a0001c0001t0010g0292 a0001c0001t0011g0018 a0001c0001t0011g0280 a0001c0001t0011g0328 a0001c0001t0012g0376 a0001c0001t0014g0238 a0001c0001t0015g0230 a0001c0001t0016g0017 a0001c0001t0019g0287 a0001c0001t0019g0291 a0001c0001t0019g0343 a0001c0001t0024g0332 a0001c0001t0026g0231 a0001c0001t0027g0173 a0001c0001t0049g0286 a0001c0002t0001g0125	68	414	0.1643	16	c.-5- others(29): Show c.-5-442_-5-427dupGTGTGTGTGTGTGTGT	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	2/4			chr15	TogoVar
BMF_chr15_40082890_40113879	40108219	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18946.hp2 NA19082.hp1 HG02523.hp1 NA18946.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0001 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0024 a0001c0001t0005g0025 a0001c0001t0011g0026 a0001c0001t0001g0024 a0001c0001t0005g0025 a0001c0001t0011g0026	3	414	0.0073	16	c.-6+ others(27): Show c.-6+24_-6+39dupGTGTGTGTGTGTGTGT	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	2/4			chr15	TogoVar
BMP1_chr8_22160372_22206482	22165882	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01175.hp1 others(16): Show HG00642.hp1 HG00735.hp2 HG01175.hp1 HG01975.hp1 HG02071.hp2 HG02129.hp2 HG02148.hp1 HG03704.hp1 NA18941.hp2 NA18943.hp2 NA18953.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18972.hp2 NA19057.hp2 NA19060.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(16): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0004g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0064	19	418	0.0455	16	c.148 others(31): Show c.148+358_148+373dupGTGTGTGTGTGTGTGT	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22206482	22189433	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02647.hp1 HG02056.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0131 a0001c0002t0001g0400 a0001c0001t0001g0131 a0001c0002t0001g0400	2	418	0.0048	16	c.107 others(35): Show c.1078-2602_1078-2587dupCACACACACACACACA	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr8	TogoVar

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