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
BLOC1S5_chr6_8008567_8069389	8047142	C C	CCTCTCT CCTCTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02922.hp1 HG03130.hp2 others(2): Show HG01109.hp1 HG02922.hp1 HG03130.hp2 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0134 a0001c0001t0004g0135 others(2): Show a0001c0001t0004g0025 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0289	5	364	0.0137	6	c.196 others(23): Show c.196-5880_196-5875dupAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLTP1_chr4_122147331_122367752	122151232	T T	TTAAGAA TTAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01361.hp2 HG01884.hp2 others(21): Show HG00738.hp2 HG01361.hp2 HG01884.hp2 HG02055.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0011	a0001c0007 a0003c0006 a0009c0011 others(2): Show a0001c0007 a0003c0006 a0009c0011 a0011c0040 a0011c0041	a0001c0007t0001 a0003c0006t0001 a0009c0011t0001 others(3): Show a0001c0007t0001 a0003c0006t0001 a0009c0011t0001 a0009c0011t0007 a0011c0040t0001 a0011c0041t0001	a0001c0007t0001g0157 a0001c0007t0001g0244 a0001c0007t0001g0245 others(21): Show a0001c0007t0001g0157 a0001c0007t0001g0244 a0001c0007t0001g0245 a0001c0007t0001g0283 a0001c0007t0001g0284 a0003c0006t0001g0009 a0003c0006t0001g0010 a0003c0006t0001g0011 a0003c0006t0001g0012 a0003c0006t0001g0013 a0003c0006t0001g0038 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0006t0001g0042 a0003c0006t0001g0043 a0003c0006t0001g0044 a0003c0006t0001g0046 a0003c0006t0001g0047 a0003c0006t0001g0048 a0009c0011t0001g0045 a0009c0011t0001g0112 a0009c0011t0007g0039 a0011c0040t0001g0248 a0011c0041t0001g0246	24	336	0.0714	6	c.-14 others(17): Show c.-1474_-1473insTAAGAA	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding		1098		chr4	TogoVar
BLTP1_chr4_122147331_122367752	122154162	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02615.hp2 others(3): Show HG02055.hp2 HG02559.hp1 HG02615.hp2 HG02809.hp1 HG02895.hp2 NA19030.hp2	a0003 a0007 a0009 a0003 a0007 a0009	a0003c0006 a0007c0012 a0009c0011 a0003c0006 a0007c0012 a0009c0011	a0003c0006t0001 a0007c0012t0001 a0009c0011t0001 a0003c0006t0001 a0007c0012t0001 a0009c0011t0001	a0003c0006t0001g0046 a0003c0006t0001g0047 a0003c0006t0001g0048 others(3): Show a0003c0006t0001g0046 a0003c0006t0001g0047 a0003c0006t0001g0048 a0007c0012t0001g0315 a0007c0012t0001g0316 a0009c0011t0001g0045	6	336	0.0179	6	c.-34 others(19): Show c.-34+76_-34+81dupTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	2/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122200578	C C	CAAAACA CAAAACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp2 HG03486.hp1 HG02559.hp2 HG02717.hp2 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0001 a0001c0005t0002g0006 a0001c0005t0002g0001 a0001c0005t0002g0006	3	336	0.0089	6	c.138 others(23): Show c.1381-426_1381-421dupCAAAAA	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	14/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122200583	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp2 HG01361.hp2 others(12): Show HG00558.hp2 HG01106.hp2 HG01361.hp2 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG04115.hp2 NA19003.hp2 NA19030.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0002 a0001c0005 a0001c0015 others(4): Show a0001c0002 a0001c0005 a0001c0015 a0001c0026 a0001c0033 a0003c0006 a0009c0011	a0001c0002t0001 a0001c0005t0001 a0001c0015t0001 others(5): Show a0001c0002t0001 a0001c0005t0001 a0001c0015t0001 a0001c0026t0001 a0001c0033t0001 a0003c0006t0001 a0009c0011t0001 a0009c0011t0007	a0001c0002t0001g0030 a0001c0005t0001g0106 a0001c0005t0001g0173 others(12): Show a0001c0002t0001g0030 a0001c0005t0001g0106 a0001c0005t0001g0173 a0001c0015t0001g0078 a0001c0015t0001g0079 a0001c0026t0001g0080 a0001c0033t0001g0052 a0003c0006t0001g0009 a0003c0006t0001g0010 a0003c0006t0001g0011 a0003c0006t0001g0012 a0003c0006t0001g0013 a0003c0006t0001g0046 a0009c0011t0001g0112 a0009c0011t0007g0039	15	336	0.0446	6	c.138 others(23): Show c.1381-412_1381-407dupAAAAAA	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	14/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122205785	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG01106.hp2 others(32): Show HG00621.hp1 HG00673.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01515.hp2 HG01517.hp1 HG02040.hp1 HG02074.hp2 HG02145.hp2 HG02165.hp2 HG02809.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG04115.hp2 HG04204.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA19007.hp1 NA19056.hp2 NA19057.hp2 NA19079.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA20805.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0002 a0001c0005 a0001c0019 others(5): Show a0001c0002 a0001c0005 a0001c0019 a0001c0024 a0001c0027 a0002c0004 a0006c0014 a0010c0020	a0001c0002t0001 a0001c0002t0008 a0001c0005t0001 others(6): Show a0001c0002t0001 a0001c0002t0008 a0001c0005t0001 a0001c0019t0001 a0001c0024t0001 a0001c0027t0001 a0002c0004t0001 a0006c0014t0001 a0010c0020t0001	a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 others(31): Show a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0071 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0100 a0001c0002t0008g0294 a0001c0005t0001g0105 a0001c0005t0001g0106 a0001c0005t0001g0109 a0001c0005t0001g0110 a0001c0005t0001g0111 a0001c0005t0001g0173 a0001c0019t0001g0003 a0001c0024t0001g0163 a0001c0027t0001g0072 a0002c0004t0001g0049 a0002c0004t0001g0129 a0002c0004t0001g0130 a0002c0004t0001g0131 a0002c0004t0001g0135 a0002c0004t0001g0136 a0002c0004t0001g0138 a0002c0004t0001g0149 a0002c0004t0001g0154 a0002c0004t0001g0158 a0002c0004t0001g0234 a0006c0014t0001g0144 a0010c0020t0001g0104 a0010c0020t0001g0180	35	336	0.1042	6	c.149 others(25): Show c.1499-1298_1499-1293dupACACAC	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	15/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122237981	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02280.hp2 HG02572.hp2 others(8): Show HG01361.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03098.hp2 HG03579.hp1 NA19240.hp2	a0003 a0009 a0003 a0009	a0003c0006 a0009c0011 a0003c0006 a0009c0011	a0003c0006t0001 a0009c0011t0001 a0009c0011t0007 a0003c0006t0001 a0009c0011t0001 a0009c0011t0007	a0003c0006t0001g0009 a0003c0006t0001g0010 a0003c0006t0001g0011 others(8): Show a0003c0006t0001g0009 a0003c0006t0001g0010 a0003c0006t0001g0011 a0003c0006t0001g0012 a0003c0006t0001g0013 a0003c0006t0001g0040 a0003c0006t0001g0042 a0003c0006t0001g0043 a0003c0006t0001g0047 a0009c0011t0001g0045 a0009c0011t0007g0039	11	336	0.0327	6	c.357 others(21): Show c.3575-96_3575-91dupAAAAAA	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	27/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122244188	A A	AAAAATG AAAAATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02572.hp2 others(9): Show HG01884.hp2 HG02055.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02895.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03579.hp1 NA19030.hp2 NA19240.hp2	a0003 a0009 a0003 a0009	a0003c0006 a0009c0011 a0003c0006 a0009c0011	a0003c0006t0001 a0009c0011t0001 a0009c0011t0007 a0003c0006t0001 a0009c0011t0001 a0009c0011t0007	a0003c0006t0001g0012 a0003c0006t0001g0038 a0003c0006t0001g0040 others(9): Show a0003c0006t0001g0012 a0003c0006t0001g0038 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0006t0001g0042 a0003c0006t0001g0043 a0003c0006t0001g0044 a0003c0006t0001g0046 a0003c0006t0001g0047 a0003c0006t0001g0048 a0009c0011t0001g0045 a0009c0011t0007g0039	12	336	0.0357	6	c.491 others(23): Show c.4916+167_4916+172dupGAAAAT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	31/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122262148	T T	TTGTGTG TTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG00741.hp1 others(47): Show HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02109.hp2 HG02148.hp1 HG02257.hp1 HG02622.hp2 HG03579.hp1 HG03942.hp2 HG04204.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18974.hp1 NA18975.hp2 NA18982.hp2 NA18986.hp1 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19004.hp1 NA19011.hp1 NA19058.hp1 NA19062.hp1 NA19065.hp1 NA19070.hp2 NA19077.hp2 NA19086.hp1 NA19086.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0018	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0034 a0001c0038 a0002c0004 a0003c0006 a0011c0041 a0018c0039	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0001c0034t0001 a0001c0038t0005 a0002c0004t0001 a0003c0006t0001 a0011c0041t0001 a0018c0039t0001	a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0222 others(47): Show a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0222 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0003g0260 a0001c0001t0003g0278 a0001c0002t0001g0023 a0001c0002t0001g0066 a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0001g0077 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0003t0001g0193 a0001c0003t0001g0206 a0001c0003t0001g0290 a0001c0005t0001g0111 a0001c0005t0001g0140 a0001c0007t0001g0157 a0001c0034t0001g0286 a0001c0038t0005g0285 a0002c0004t0001g0136 a0002c0004t0001g0148 a0003c0006t0001g0040 a0003c0006t0001g0042 a0011c0041t0001g0246 a0018c0039t0001g0233	50	336	0.1488	6	c.676 others(23): Show c.6763-582_6763-577dupGTGTGT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	42/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122290812	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02486.hp2 HG03130.hp2 others(5): Show HG02074.hp1 HG02486.hp2 HG03130.hp2 HG03471.hp1 HG04184.hp2 NA18985.hp2 NA19007.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0184 others(5): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0329	8	336	0.0238	6	c.938 others(25): Show c.9388+1652_9388+1657dupCACACA	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	54/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3A_chr6_34787083_34882514	34792126	T T	TGGCGGC TGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01099.hp1 HG01106.hp2 others(5): Show HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG02040.hp2 HG02602.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0009 a0003c0003t0043 a0004c0004t0044 a0003c0003t0009 a0003c0003t0043 a0004c0004t0044	a0003c0003t0009g0101 a0003c0003t0009g0114 a0003c0003t0009g0117 others(5): Show a0003c0003t0009g0101 a0003c0003t0009g0114 a0003c0003t0009g0117 a0003c0003t0009g0128 a0003c0003t0009g0135 a0003c0003t0009g0136 a0003c0003t0043g0138 a0004c0004t0044g0038	8	312	0.0256	6	c.-11 others(15): Show c.-115_-110dupGGCGGC	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/21	109	INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34798594	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG00738.hp2 others(44): Show HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02148.hp1 HG02257.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03209.hp2 HG03654.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG06807.hp1 NA18906.hp2 NA18952.hp2 NA18968.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp2 NA19063.hp2 NA19076.hp1 NA19089.hp1 NA20129.hp2 NA20805.hp2	a0003 a0005 a0007 others(3): Show a0003 a0005 a0007 a0012 a0020 a0024	a0003c0003 a0003c0022 a0003c0027 others(5): Show a0003c0003 a0003c0022 a0003c0027 a0005c0005 a0007c0007 a0012c0013 a0020c0029 a0024c0033	a0003c0003t0003 a0003c0003t0009 a0003c0003t0011 others(14): Show a0003c0003t0003 a0003c0003t0009 a0003c0003t0011 a0003c0003t0012 a0003c0003t0030 a0003c0003t0034 a0003c0003t0038 a0003c0003t0043 a0003c0003t0045 a0003c0022t0003 a0003c0027t0012 a0005c0005t0007 a0005c0005t0021 a0007c0007t0019 a0012c0013t0003 a0020c0029t0003 a0024c0033t0003	a0003c0003t0003g0102 a0003c0003t0003g0103 a0003c0003t0003g0104 others(44): Show a0003c0003t0003g0102 a0003c0003t0003g0103 a0003c0003t0003g0104 a0003c0003t0003g0118 a0003c0003t0003g0119 a0003c0003t0003g0120 a0003c0003t0003g0122 a0003c0003t0003g0123 a0003c0003t0003g0127 a0003c0003t0003g0129 a0003c0003t0003g0132 a0003c0003t0003g0133 a0003c0003t0003g0146 a0003c0003t0003g0147 a0003c0003t0003g0148 a0003c0003t0003g0151 a0003c0003t0003g0152 a0003c0003t0003g0164 a0003c0003t0009g0101 a0003c0003t0009g0114 a0003c0003t0009g0117 a0003c0003t0009g0128 a0003c0003t0009g0135 a0003c0003t0009g0136 a0003c0003t0011g0121 a0003c0003t0012g0113 a0003c0003t0012g0115 a0003c0003t0012g0139 a0003c0003t0030g0125 a0003c0003t0034g0126 a0003c0003t0038g0140 a0003c0003t0043g0138 a0003c0003t0045g0143 a0003c0022t0003g0166 a0003c0027t0012g0100 a0005c0005t0007g0124 a0005c0005t0007g0130 a0005c0005t0007g0131 a0005c0005t0007g0134 a0005c0005t0007g0137 a0005c0005t0007g0149 a0005c0005t0007g0150 a0005c0005t0021g0116 a0007c0007t0019g0308 a0012c0013t0003g0099 a0020c0029t0003g0165 a0024c0033t0003g0145	47	312	0.1506	6	c.44+ others(21): Show c.44+6314_44+6319dupTTTTTT	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34808346	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01891.hp2 HG02145.hp2 others(5): Show HG01361.hp2 HG01891.hp2 HG02145.hp2 HG02630.hp1 HG03225.hp1 HG03516.hp1 HG06807.hp1 NA20805.hp2	a0003 a0004 a0007 others(2): Show a0003 a0004 a0007 a0009 a0024	a0003c0003 a0004c0004 a0007c0007 others(2): Show a0003c0003 a0004c0004 a0007c0007 a0009c0011 a0024c0033	a0003c0003t0003 a0003c0003t0012 a0004c0004t0005 others(4): Show a0003c0003t0003 a0003c0003t0012 a0004c0004t0005 a0007c0007t0019 a0009c0011t0022 a0009c0011t0039 a0024c0033t0003	a0003c0003t0003g0164 a0003c0003t0012g0115 a0004c0004t0005g0026 others(5): Show a0003c0003t0003g0164 a0003c0003t0012g0115 a0004c0004t0005g0026 a0007c0007t0019g0307 a0007c0007t0019g0308 a0009c0011t0022g0160 a0009c0011t0039g0159 a0024c0033t0003g0145	8	312	0.0256	6	c.45- others(23): Show c.45-13288_45-13283dupAAAAAA	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34869640	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp2 HG02615.hp2 others(8): Show HG01123.hp1 HG02109.hp2 HG02615.hp2 HG02622.hp2 HG03098.hp2 HG03471.hp2 HG03579.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp1 NA19240.hp1	a0004 a0004	a0004c0004 a0004c0015 a0004c0024 a0004c0004 a0004c0015 a0004c0024	a0004c0004t0005 a0004c0004t0018 a0004c0004t0028 others(4): Show a0004c0004t0005 a0004c0004t0018 a0004c0004t0028 a0004c0004t0029 a0004c0004t0031 a0004c0015t0005 a0004c0024t0017	a0004c0004t0005g0014 a0004c0004t0005g0015 a0004c0004t0005g0017 others(8): Show a0004c0004t0005g0014 a0004c0004t0005g0015 a0004c0004t0005g0017 a0004c0004t0005g0027 a0004c0004t0005g0045 a0004c0004t0018g0031 a0004c0004t0028g0023 a0004c0004t0029g0025 a0004c0004t0031g0163 a0004c0015t0005g0024 a0004c0024t0017g0005	11	312	0.0353	6	c.371 others(25): Show c.3719-1191_3719-1186dupTTTTTT	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100048735	G G	GGGGAGA GGGGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01255.hp2 others(14): Show HG00099.hp2 HG00738.hp2 HG01255.hp2 HG01361.hp1 HG02004.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02922.hp1 HG03130.hp1 HG03834.hp1 HG03942.hp1 NA18987.hp2 NA19000.hp1 NA20752.hp1 NA20905.hp1	a0003 a0016 a0003 a0016	a0003c0002 a0016c0022 a0003c0002 a0016c0022	a0003c0002t0001 a0016c0022t0001 a0003c0002t0001 a0016c0022t0001	a0003c0002t0001g0030 a0003c0002t0001g0031 a0003c0002t0001g0034 others(14): Show a0003c0002t0001g0030 a0003c0002t0001g0031 a0003c0002t0001g0034 a0003c0002t0001g0036 a0003c0002t0001g0037 a0003c0002t0001g0038 a0003c0002t0001g0039 a0003c0002t0001g0043 a0003c0002t0001g0045 a0003c0002t0001g0048 a0003c0002t0001g0093 a0003c0002t0001g0094 a0003c0002t0001g0095 a0003c0002t0001g0096 a0003c0002t0001g0097 a0003c0002t0001g0160 a0016c0022t0001g0016	17	188	0.0904	6	c.371 others(23): Show c.3719-540_3719-539insTCTCCC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	17/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100048771	A A	AGTGTGT AGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02258.hp1 NA18960.hp1 others(1): Show HG00544.hp1 HG02258.hp1 NA18960.hp1 NA19078.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0004 a0012c0028 a0001c0001 a0001c0004 a0012c0028	a0001c0001t0001 a0001c0004t0001 a0012c0028t0001 a0001c0001t0001 a0001c0004t0001 a0012c0028t0001	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0004t0001g0044 others(1): Show a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0004t0001g0044 a0012c0028t0001g0087	4	188	0.0213	6	c.371 others(23): Show c.3719-581_3719-576dupACACAC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	17/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100098993	T T	TTTATTA TTTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00673.hp2 others(65): Show HG00099.hp2 HG00544.hp1 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01361.hp1 HG01928.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG06807.hp1 NA18942.hp2 NA18960.hp1 NA18987.hp2 NA19000.hp1 NA19030.hp1 NA19043.hp1 NA19078.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0007 a0009 a0011 a0012 a0015 a0016 a0017 a0020 a0021	a0001c0001 a0001c0004 a0001c0025 others(14): Show a0001c0001 a0001c0004 a0001c0025 a0002c0003 a0002c0010 a0003c0002 a0004c0005 a0007c0008 a0009c0021 a0009c0027 a0011c0011 a0012c0028 a0015c0024 a0016c0022 a0017c0020 a0020c0016 a0021c0026	a0001c0001t0001 a0001c0004t0001 a0001c0025t0001 others(14): Show a0001c0001t0001 a0001c0004t0001 a0001c0025t0001 a0002c0003t0001 a0002c0010t0001 a0003c0002t0001 a0004c0005t0001 a0007c0008t0001 a0009c0021t0001 a0009c0027t0001 a0011c0011t0001 a0012c0028t0001 a0015c0024t0001 a0016c0022t0001 a0017c0020t0001 a0020c0016t0001 a0021c0026t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(65): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0044 a0001c0004t0001g0047 a0001c0025t0001g0092 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0032 a0002c0010t0001g0023 a0002c0010t0001g0024 a0003c0002t0001g0030 a0003c0002t0001g0031 a0003c0002t0001g0034 a0003c0002t0001g0035 a0003c0002t0001g0036 a0003c0002t0001g0037 a0003c0002t0001g0038 a0003c0002t0001g0039 a0003c0002t0001g0043 a0003c0002t0001g0045 a0003c0002t0001g0048 a0003c0002t0001g0056 a0003c0002t0001g0093 a0003c0002t0001g0094 a0003c0002t0001g0095 a0003c0002t0001g0096 a0003c0002t0001g0097 a0004c0005t0001g0049 a0004c0005t0001g0050 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0053 a0004c0005t0001g0054 a0007c0008t0001g0183 a0007c0008t0001g0184 a0007c0008t0001g0185 a0007c0008t0001g0186 a0009c0021t0001g0046 a0009c0027t0001g0033 a0011c0011t0001g0004 a0011c0011t0001g0005 a0012c0028t0001g0087 a0015c0024t0001g0187 a0016c0022t0001g0016 a0017c0020t0001g0006 a0020c0016t0001g0055 a0021c0026t0001g0013	68	188	0.3617	6	c.339 others(21): Show c.339-458_339-453dupTAATAA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	4/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100124936	T T	TTATATA TTATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG01261.hp2 others(12): Show HG00423.hp1 HG00642.hp1 HG01261.hp2 HG02015.hp2 HG02080.hp1 HG02257.hp2 HG02523.hp2 HG02809.hp1 HG02895.hp2 HG03490.hp2 HG03942.hp1 NA18983.hp2 NA18990.hp1 NA18991.hp2 NA19000.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0003c0002 a0005c0006 others(1): Show a0001c0001 a0003c0002 a0005c0006 a0006c0015	a0001c0001t0001 a0003c0002t0001 a0005c0006t0001 others(1): Show a0001c0001t0001 a0003c0002t0001 a0005c0006t0001 a0006c0015t0001	a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0084 others(12): Show a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0141 a0001c0001t0001g0163 a0001c0001t0001g0188 a0003c0002t0001g0030 a0003c0002t0001g0037 a0003c0002t0001g0056 a0005c0006t0001g0179 a0006c0015t0001g0145	15	188	0.0798	6	c.45- others(23): Show c.45-16394_45-16389dupTATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100124974	A A	ATATATT ATATATT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02809.hp2 HG03486.hp2 HG01346.hp2 HG02809.hp2 HG03486.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0017c0020 a0001c0001 a0017c0020	a0001c0001t0001 a0017c0020t0001 a0001c0001t0001 a0017c0020t0001	a0001c0001t0001g0101 a0001c0001t0001g0109 a0017c0020t0001g0006 a0001c0001t0001g0101 a0001c0001t0001g0109 a0017c0020t0001g0006	3	188	0.0160	6	c.45- others(23): Show c.45-16432_45-16427dupAATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100130951	T T	TACATAC TACATAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02004.hp1 HG02015.hp2 others(10): Show HG01167.hp2 HG02004.hp1 HG02015.hp2 HG02572.hp2 HG02735.hp1 HG02922.hp1 HG03130.hp1 HG03516.hp2 HG03834.hp1 HG03942.hp1 NA18987.hp2 NA19000.hp1 NA19043.hp1	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0015	a0002c0003 a0003c0002 a0007c0008 others(1): Show a0002c0003 a0003c0002 a0007c0008 a0015c0024	a0002c0003t0001 a0003c0002t0001 a0007c0008t0001 others(1): Show a0002c0003t0001 a0003c0002t0001 a0007c0008t0001 a0015c0024t0001	a0002c0003t0001g0032 a0003c0002t0001g0030 a0003c0002t0001g0031 others(10): Show a0002c0003t0001g0032 a0003c0002t0001g0030 a0003c0002t0001g0031 a0003c0002t0001g0035 a0003c0002t0001g0037 a0003c0002t0001g0039 a0003c0002t0001g0043 a0003c0002t0001g0045 a0003c0002t0001g0048 a0003c0002t0001g0056 a0003c0002t0001g0096 a0007c0008t0001g0185 a0015c0024t0001g0187	13	188	0.0692	6	c.44+ others(23): Show c.44+11640_44+11641insGTATGT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100130982	G G	GGAGAGA GGAGAGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01981.hp1 HG02056.hp1 others(4): Show HG01934.hp1 HG01981.hp1 HG02056.hp1 HG02129.hp2 NA18990.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0064 a0001c0001t0001g0129 a0001c0001t0001g0135 others(4): Show a0001c0001t0001g0064 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0165 a0001c0001t0001g0172 a0006c0007t0001g0151	7	188	0.0372	6	c.44+ others(23): Show c.44+11604_44+11609dupTCTCTC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRB_chr19_40442768_40470745	40448603	C C	CAACAAT CAACAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00738.hp1 others(11): Show HG00140.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01516.hp1 HG01517.hp1 HG02071.hp2 HG02258.hp2 HG02683.hp2 HG03017.hp1 HG03654.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0151 others(11): Show a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0181	14	362	0.0387	6	c.464 others(21): Show c.464-558_464-557insATTGTT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	4/4			chr19	TogoVar
BLZF1_chr1_169363195_169393305	169375393	C C	CATATAT CATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00738.hp2 others(27): Show HG00140.hp1 HG00323.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01261.hp2 HG01496.hp1 HG01993.hp1 HG02165.hp1 HG03130.hp1 HG03139.hp2 HG03471.hp1 HG03490.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18988.hp2 NA18991.hp1 NA18997.hp1 NA19078.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 a0006c0006t0002	a0001c0001t0001g0027 a0001c0001t0001g0114 a0001c0001t0001g0115 others(11): Show a0001c0001t0001g0027 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0033 a0001c0001t0002g0052 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0084 a0001c0001t0006g0006 a0002c0002t0001g0090 a0006c0006t0002g0006	30	366	0.0820	6	c.29- others(21): Show c.29-1114_29-1109dupATATAT	BLZF1	ENSG00000117475.14	transcript	ENST00000367808.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
BMAL1_chr11_13272790_13392266	13290559	A A	ATATTAT ATATTAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp2 HG03209.hp1 HG02258.hp2 HG02809.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0001g0122 a0001c0001t0002g0125 a0001c0001t0002g0126	3	314	0.0096	6	c.-26 others(27): Show c.-263+12666_-263+12671dupTTATTA	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13290559	A A	ATGTTAT ATGTTAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01884.hp1 HG01884.hp2 others(20): Show HG00423.hp2 HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03834.hp2 HG04115.hp1 NA18973.hp2 NA19009.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0016 others(20): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0119 a0001c0001t0001g0153 a0001c0001t0001g0166 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0302	23	314	0.0733	6	c.-26 others(27): Show c.-263+12637_-263+12638insGTTATT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13314229	C C	CCACACA CCACACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp2 HG01069.hp1 others(21): Show HG00639.hp1 HG00673.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01175.hp2 HG01255.hp2 HG01496.hp1 HG01884.hp1 HG01952.hp1 HG01981.hp1 HG02055.hp2 HG02056.hp1 HG02135.hp2 HG02148.hp1 HG02622.hp2 HG02809.hp1 HG03041.hp2 HG03209.hp2 HG04228.hp1 NA18952.hp1 NA19005.hp2 NA19064.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 others(21): Show a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0181 a0001c0001t0001g0254 a0001c0001t0001g0296	24	314	0.0764	6	c.-19 others(25): Show c.-190+4208_-190+4213dupACACAC	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13325657	T T	TTGTGTG TTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(74): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG03239.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp1 NA18612.hp1 NA18939.hp1 NA18954.hp1 NA18964.hp1 NA18969.hp2 NA18992.hp1 NA18999.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19057.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19088.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0040 others(73): Show a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0001g0115 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0305 a0001c0001t0003g0238 a0001c0001t0003g0306 a0001c0002t0001g0039 a0001c0002t0001g0047 a0001c0002t0001g0293	77	314	0.2452	6	c.-18 others(23): Show c.-189-723_-189-718dupTGTGTG	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13339430	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02683.hp2 HG02809.hp1 others(7): Show HG02572.hp2 HG02683.hp2 HG02809.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03516.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0097 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0097 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0184 a0001c0001t0001g0211 a0001c0001t0001g0300	10	314	0.0319	6	c.-13 others(27): Show c.-134-10493_-134-10488dupCACACA	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13365282	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00558.hp1 others(33): Show HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG01258.hp2 HG01261.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp2 HG02630.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03239.hp2 HG03492.hp1 HG03540.hp2 HG03688.hp2 HG03710.hp2 NA18946.hp1 NA18949.hp2 NA18952.hp1 NA18957.hp2 NA18968.hp2 NA18971.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp2 NA19007.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0005t0001	a0001c0001t0001g0015 a0001c0001t0001g0054 a0001c0001t0001g0062 others(33): Show a0001c0001t0001g0015 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0190 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0281 a0001c0001t0001g0292 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0003g0306 a0001c0001t0007g0075 a0001c0005t0001g0137	36	314	0.1147	6	c.460 others(21): Show c.460-184_460-179dupCACACA	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL2_chr12_27327836_27430286	27360803	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01433.hp1 HG01433.hp2 others(15): Show HG00438.hp2 HG01433.hp1 HG01433.hp2 HG01981.hp1 HG02145.hp2 HG03471.hp2 HG03516.hp2 HG03942.hp2 HG04204.hp1 NA18957.hp1 NA18967.hp2 NA18981.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA19001.hp1 NA19002.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0021	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0043 others(15): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0227 a0001c0001t0001g0261 a0001c0001t0002g0012 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0145 a0001c0001t0006g0040 a0001c0001t0006g0262 a0001c0001t0021g0096	18	310	0.0581	6	c.32- others(21): Show c.32-7442_32-7437dupAAAAAA	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMAL2_chr12_27327836_27430286	27420019	G G	GCACACA GCACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00609.hp2 others(38): Show HG00140.hp1 HG00280.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01168.hp1 HG01192.hp2 HG01433.hp2 HG01517.hp1 HG02004.hp1 HG02257.hp1 HG02300.hp1 HG02523.hp2 HG02683.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03540.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 NA18955.hp1 NA18957.hp2 NA18973.hp1 NA18984.hp1 NA18990.hp1 NA19001.hp1 NA19011.hp2 NA19055.hp1 NA19081.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0041	a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0038 others(37): Show a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0112 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0228 a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0190 a0001c0001t0002g0203 a0001c0001t0012g0164 a0001c0001t0012g0237 a0001c0001t0012g0238 a0001c0001t0031g0276 a0001c0001t0033g0063 a0001c0001t0034g0281 a0001c0001t0035g0161 a0001c0001t0037g0067 a0001c0001t0041g0017	41	310	0.1323	6	c.177 others(23): Show c.1775-352_1775-347dupCACACA	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMERB1_chr16_15429588_15593259	15512012	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00597.hp1 others(49): Show HG00323.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01255.hp1 HG01257.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02056.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02523.hp2 HG03225.hp1 HG03654.hp1 HG03927.hp2 HG04184.hp2 NA18747.hp2 NA18948.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp1 NA18968.hp1 NA18975.hp1 NA18981.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19088.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0003 a0001c0002t0017 a0001c0002t0021 a0002c0003t0002	a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0107 others(49): Show a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0002g0046 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0103 a0001c0001t0002g0130 a0001c0001t0002g0142 a0001c0001t0003g0008 a0001c0001t0004g0148 a0001c0001t0008g0099 a0001c0001t0011g0006 a0001c0001t0011g0134 a0001c0001t0011g0187 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0029 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0051 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0092 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0133 a0001c0002t0001g0138 a0001c0002t0001g0143 a0001c0002t0001g0149 a0001c0002t0001g0152 a0001c0002t0001g0156 a0001c0002t0001g0178 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0003g0151 a0001c0002t0003g0153 a0001c0002t0017g0164 a0001c0002t0021g0155 a0002c0003t0002g0080	52	291	0.1787	6	c.107 others(23): Show c.107-3272_107-3267dupAAAAAA	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15519074	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG01074.hp2 others(72): Show HG00597.hp1 HG00639.hp2 HG01074.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03491.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp2 NA18948.hp1 NA18957.hp1 NA18966.hp2 NA18970.hp1 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp2 NA19000.hp2 NA19007.hp2 NA19043.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0002t0017 a0001c0002t0021 a0002c0003t0002 a0003c0007t0004	a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0044 others(72): Show a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0150 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0274 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0002g0053 a0001c0001t0002g0063 a0001c0001t0002g0072 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0104 a0001c0001t0002g0130 a0001c0001t0002g0142 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0199 a0001c0001t0002g0262 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0098 a0001c0001t0003g0268 a0001c0001t0007g0077 a0001c0001t0007g0084 a0001c0001t0007g0201 a0001c0001t0011g0006 a0001c0001t0011g0062 a0001c0001t0013g0264 a0001c0001t0013g0265 a0001c0002t0001g0012 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0050 a0001c0002t0001g0071 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0138 a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0238 a0001c0002t0003g0049 a0001c0002t0003g0054 a0001c0002t0003g0151 a0001c0002t0003g0153 a0001c0002t0011g0091 a0001c0002t0017g0164 a0001c0002t0021g0155 a0002c0003t0002g0080 a0003c0007t0004g0269	75	291	0.2577	6	c.230 others(23): Show c.230+3675_230+3680dupACACAC	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15580203	C C	CTTGGCT CTTGGCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02257.hp1 HG02258.hp1 others(15): Show HG01261.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 NA18522.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0019	a0001c0001t0001g0255 a0001c0001t0005g0005 a0001c0001t0005g0011 others(15): Show a0001c0001t0001g0255 a0001c0001t0005g0005 a0001c0001t0005g0011 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0119 a0001c0001t0005g0121 a0001c0001t0005g0124 a0001c0001t0005g0128 a0001c0001t0005g0131 a0001c0001t0005g0158 a0001c0001t0005g0289 a0001c0001t0009g0102 a0001c0001t0009g0123 a0001c0001t0009g0125 a0001c0001t0009g0126 a0001c0001t0009g0217 a0001c0001t0019g0127	18	291	0.0619	6	c.305 others(23): Show c.305-1014_305-1013insTTGGCT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	3/5			chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591594	A A	AAAACAC AAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02451.hp2 others(3): Show HG01109.hp1 HG01891.hp1 HG02451.hp2 HG02559.hp2 HG02970.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0114 a0001c0001t0006g0160 a0001c0001t0006g0161 others(3): Show a0001c0001t0006g0114 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0006g0216 a0001c0001t0006g0219 a0001c0001t0006g0220	6	291	0.0206	6	c.47 others(17): Show c.4765_*4766insAAACAC	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3336		chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591594	A A	AACACAC AACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00558.hp1 others(28): Show HG00280.hp1 HG00323.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG01069.hp2 HG01071.hp2 HG01993.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02155.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02698.hp2 HG02896.hp1 HG02922.hp1 HG03453.hp1 HG03831.hp1 NA18747.hp2 NA18964.hp2 NA18966.hp1 NA18981.hp2 NA18998.hp1 NA19009.hp2 NA19010.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 a0001c0002t0001 a0001c0002t0003 a0002c0003t0001	a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0055 others(28): Show a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0110 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0163 a0001c0001t0001g0202 a0001c0001t0001g0274 a0001c0001t0003g0007 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0141 a0001c0001t0003g0248 a0001c0001t0003g0285 a0001c0001t0008g0099 a0001c0001t0008g0270 a0001c0001t0008g0272 a0001c0001t0008g0280 a0001c0001t0014g0204 a0001c0001t0014g0206 a0001c0001t0018g0109 a0001c0002t0001g0071 a0001c0002t0003g0054 a0002c0003t0001g0083	31	291	0.1065	6	c.47 others(17): Show c.4765_*4766insACACAC	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3336		chr16	TogoVar
BMF_chr15_40082890_40113879	40083334	A A	AGTGTGT AGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp1 others(17): Show HG00099.hp1 HG00140.hp2 HG00639.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01255.hp2 HG01361.hp2 HG01515.hp2 HG01981.hp1 HG02074.hp2 HG02165.hp2 HG02622.hp2 HG03041.hp1 HG03139.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03942.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0001t0049 a0001c0001t0053	a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0314 others(17): Show a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0314 a0001c0001t0001g0344 a0001c0001t0001g0347 a0001c0001t0002g0096 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0183 a0001c0001t0002g0207 a0001c0001t0002g0331 a0001c0001t0002g0338 a0001c0001t0007g0342 a0001c0001t0007g0355 a0001c0001t0019g0343 a0001c0001t0020g0263 a0001c0001t0020g0264 a0001c0001t0020g0272 a0001c0001t0049g0286 a0001c0001t0053g0388	20	414	0.0483	6	c.84 others(17): Show c.8452_*8453insACACAC	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding		4555		chr15	TogoVar
BMF_chr15_40082890_40113879	40106517	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02717.hp2 others(4): Show HG02109.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02922.hp2 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018	a0001c0001t0001g0133 a0001c0001t0001g0348 a0001c0001t0002g0155 others(4): Show a0001c0001t0001g0133 a0001c0001t0001g0348 a0001c0001t0002g0155 a0001c0001t0002g0179 a0001c0001t0007g0037 a0001c0001t0014g0128 a0001c0001t0018g0038	7	414	0.0169	6	c.-5- others(19): Show c.-5-432_-5-427dupGTGTGT	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	2/4			chr15	TogoVar
BMF_chr15_40082890_40113879	40107533	A A	AGTGTGT AGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00597.hp2 others(55): Show HG00140.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01257.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02109.hp1 HG02132.hp1 HG02165.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02647.hp1 HG02895.hp1 HG02896.hp2 HG03041.hp1 HG03195.hp2 HG03471.hp2 HG03540.hp2 HG03654.hp2 HG04184.hp1 NA18939.hp1 NA18942.hp1 NA18947.hp1 NA18947.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp1 NA18986.hp1 NA18988.hp1 NA18997.hp1 NA18997.hp2 NA19006.hp2 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19083.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0021 a0001c0001t0027 a0001c0001t0029 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0048	a0001c0001t0001g0119 a0001c0001t0001g0138 a0001c0001t0001g0140 others(48): Show a0001c0001t0001g0119 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0002g0011 a0001c0001t0002g0139 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0003g0009 a0001c0001t0003g0120 a0001c0001t0003g0370 a0001c0001t0004g0010 a0001c0001t0004g0070 a0001c0001t0005g0170 a0001c0001t0006g0165 a0001c0001t0006g0168 a0001c0001t0006g0172 a0001c0001t0006g0177 a0001c0001t0007g0355 a0001c0001t0008g0002 a0001c0001t0008g0356 a0001c0001t0009g0012 a0001c0001t0009g0164 a0001c0001t0009g0169 a0001c0001t0009g0171 a0001c0001t0009g0176 a0001c0001t0009g0373 a0001c0001t0014g0354 a0001c0001t0021g0353 a0001c0001t0027g0173 a0001c0001t0029g0141 a0001c0001t0039g0352 a0001c0001t0040g0180 a0001c0001t0045g0135 a0001c0001t0048g0161	58	414	0.1401	6	c.-6+ others(19): Show c.-6+720_-6+725dupACACAC	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	2/4			chr15	TogoVar
BMF_chr15_40082890_40113879	40108219	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02145.hp2 others(22): Show HG01516.hp1 HG01517.hp1 HG02145.hp2 HG02257.hp2 HG02572.hp2 HG02630.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA18954.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0001t0052	a0001c0001t0001g0001 a0001c0001t0001g0100 a0001c0001t0001g0103 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0101 a0001c0001t0005g0104 a0001c0001t0007g0102 a0001c0001t0018g0113 a0001c0001t0018g0117 a0001c0001t0052g0109	25	414	0.0604	6	c.-6+ others(17): Show c.-6+34_-6+39dupGTGTGT	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	2/4			chr15	TogoVar
BMP1_chr8_22160372_22206482	22165882	C C	CGTGTGT CGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00597.hp1 others(50): Show HG00140.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01258.hp2 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG02055.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03453.hp2 HG03579.hp1 HG03688.hp1 HG03927.hp2 HG04115.hp2 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp2 NA18983.hp2 NA18986.hp2 NA19010.hp2 NA19011.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp2 NA19078.hp1 NA19083.hp2 NA19087.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0009 a0001c0001 a0001c0002 a0006c0009	a0001c0001t0001 a0001c0002t0001 a0006c0009t0001 a0001c0001t0001 a0001c0002t0001 a0006c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(46): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0211 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0237 a0006c0009t0001g0234	53	418	0.1268	6	c.148 others(21): Show c.148+368_148+373dupGTGTGT	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22206482	22183591	A A	AATTATT AATTATT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp1 HG02055.hp1 others(32): Show HG00621.hp2 HG00738.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03471.hp2 HG03669.hp1 NA18747.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18957.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18972.hp1 NA18983.hp1 NA18984.hp1 NA18998.hp2 NA19054.hp2 NA19060.hp1 NA19063.hp2 NA19079.hp2 NA20300.hp1 NA20805.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0010 a0001c0001 a0001c0002 a0009c0010	a0001c0001t0001 a0001c0002t0001 a0009c0010t0001 a0001c0001t0001 a0001c0002t0001 a0009c0010t0001	a0001c0001t0001g0019 a0001c0001t0001g0194 a0001c0001t0001g0219 others(32): Show a0001c0001t0001g0019 a0001c0001t0001g0194 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0236 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0329 a0001c0001t0001g0365 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0378 a0001c0001t0001g0381 a0001c0002t0001g0048 a0001c0002t0001g0054 a0001c0002t0001g0089 a0001c0002t0001g0123 a0001c0002t0001g0129 a0001c0002t0001g0143 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0165 a0001c0002t0001g0185 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0255 a0001c0002t0001g0258 a0001c0002t0001g0370 a0001c0002t0001g0385 a0001c0002t0001g0397 a0001c0002t0001g0398 a0001c0002t0001g0399 a0001c0002t0001g0400 a0009c0010t0001g0091	35	418	0.0837	6	c.107 others(25): Show c.1077+3136_1077+3141dupATTATT	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22206482	22189433	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00558.hp2 others(50): Show HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00733.hp2 HG00738.hp1 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03669.hp1 HG03834.hp1 NA18612.hp1 NA18747.hp2 NA18943.hp1 NA18961.hp2 NA18963.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA19002.hp2 NA19010.hp1 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19070.hp1 NA19081.hp2 NA19089.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0024 others(49): Show a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0001g0242 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0314 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0351 a0001c0001t0001g0365 a0001c0001t0001g0373 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0381 a0001c0001t0001g0384 a0001c0001t0002g0160 a0001c0002t0001g0048 a0001c0002t0001g0085 a0001c0002t0001g0101 a0001c0002t0001g0142 a0001c0002t0001g0152 a0001c0002t0001g0248 a0001c0002t0001g0284 a0001c0002t0001g0308 a0001c0002t0001g0348 a0003c0005t0001g0040	53	418	0.1268	6	c.107 others(25): Show c.1078-2592_1078-2587dupCACACA	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22165882	C C	CGTGTGT CGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00597.hp1 others(53): Show HG00140.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG02055.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03453.hp2 HG03579.hp1 HG03688.hp1 HG03927.hp2 HG04115.hp2 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp2 NA18983.hp2 NA18986.hp2 NA18997.hp1 NA18997.hp2 NA19010.hp2 NA19011.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp2 NA19078.hp1 NA19083.hp2 NA19087.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0015 a0001c0026 a0002c0004 a0002c0028 a0008c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0007t0001 a0001c0012t0001 a0001c0015t0001 a0001c0026t0001 a0002c0004t0001 a0002c0028t0001 a0008c0021t0001	a0001c0001t0001g0003 a0001c0001t0001g0182 a0001c0001t0001g0185 others(51): Show a0001c0001t0001g0003 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0002g0202 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0006g0205 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0199 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0228 a0001c0003t0001g0206 a0001c0005t0001g0001 a0001c0005t0001g0186 a0001c0005t0001g0212 a0001c0005t0002g0001 a0001c0006t0001g0181 a0001c0006t0001g0191 a0001c0006t0001g0223 a0001c0007t0001g0226 a0001c0007t0001g0227 a0001c0012t0001g0211 a0001c0015t0001g0187 a0001c0026t0001g0231 a0002c0004t0001g0198 a0002c0004t0001g0215 a0002c0004t0001g0229 a0002c0004t0001g0230 a0002c0028t0001g0213 a0008c0021t0001g0225	56	408	0.1373	6	c.148 others(21): Show c.148+368_148+373dupGTGTGT	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22183591	A A	AATTATT AATTATT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp1 HG02055.hp1 others(31): Show HG00621.hp2 HG00738.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03471.hp2 HG03669.hp1 NA18747.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18957.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18972.hp1 NA18983.hp1 NA18984.hp1 NA18998.hp2 NA19054.hp2 NA19060.hp1 NA19079.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0012 a0002c0010 a0011c0023	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0007t0001 a0001c0012t0001 a0002c0010t0001 a0011c0023t0001	a0001c0001t0001g0207 a0001c0001t0001g0371 a0001c0002t0001g0041 others(31): Show a0001c0001t0001g0207 a0001c0001t0001g0371 a0001c0002t0001g0041 a0001c0002t0001g0047 a0001c0002t0001g0081 a0001c0002t0001g0108 a0001c0002t0001g0128 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0152 a0001c0002t0001g0171 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0367 a0001c0002t0001g0382 a0001c0002t0001g0400 a0001c0002t0001g0401 a0001c0002t0001g0402 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0375 a0001c0003t0004g0180 a0001c0003t0004g0372 a0001c0003t0005g0325 a0001c0003t0005g0362 a0001c0003t0005g0378 a0001c0007t0001g0010 a0001c0007t0001g0227 a0001c0012t0001g0211 a0002c0010t0001g0399 a0011c0023t0001g0083	34	408	0.0833	6	c.107 others(25): Show c.1077+3136_1077+3141dupATTATT	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22189433	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00558.hp2 others(48): Show HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00733.hp2 HG00738.hp1 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03669.hp1 HG03834.hp1 NA18612.hp1 NA18747.hp2 NA18943.hp1 NA18963.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA19002.hp2 NA19010.hp1 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19070.hp1 NA19081.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0003c0008 a0005c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0005t0001 a0002c0004t0001 a0003c0008t0001 a0005c0017t0001	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 others(48): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0219 a0001c0001t0001g0283 a0001c0001t0001g0297 a0001c0001t0001g0306 a0001c0001t0001g0347 a0001c0001t0002g0272 a0001c0001t0010g0015 a0001c0002t0001g0041 a0001c0002t0001g0078 a0001c0002t0001g0090 a0001c0002t0001g0127 a0001c0002t0001g0137 a0001c0002t0001g0239 a0001c0002t0001g0274 a0001c0002t0001g0300 a0001c0002t0001g0344 a0001c0003t0001g0098 a0001c0003t0001g0145 a0001c0003t0001g0206 a0001c0003t0001g0267 a0001c0003t0001g0275 a0001c0003t0001g0293 a0001c0003t0001g0295 a0001c0003t0001g0327 a0001c0003t0001g0375 a0001c0003t0001g0376 a0001c0003t0004g0180 a0001c0003t0005g0325 a0001c0003t0005g0362 a0001c0003t0005g0378 a0001c0005t0001g0186 a0001c0005t0001g0319 a0002c0004t0001g0021 a0002c0004t0001g0024 a0002c0004t0001g0106 a0002c0004t0001g0233 a0003c0008t0001g0370 a0003c0008t0001g0381 a0005c0017t0001g0034	51	408	0.1250	6	c.107 others(25): Show c.1078-2592_1078-2587dupCACACA	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22214508	C C	CCCCCCA CCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02280.hp1 HG02280.hp2 others(9): Show HG01099.hp2 HG02280.hp1 HG02280.hp2 HG02630.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03225.hp1 NA20129.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0007 a0003c0011 a0001c0003 a0001c0007 a0003c0011	a0001c0003t0001 a0001c0003t0003 a0001c0007t0001 others(1): Show a0001c0003t0001 a0001c0003t0003 a0001c0007t0001 a0003c0011t0003	a0001c0003t0001g0280 a0001c0003t0001g0293 a0001c0003t0001g0294 others(9): Show a0001c0003t0001g0280 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0003g0242 a0001c0003t0003g0330 a0001c0003t0003g0380 a0001c0007t0001g0010 a0003c0011t0003g0142 a0003c0011t0003g0331 a0003c0011t0003g0338 a0003c0011t0003g0363	12	408	0.0294	6	c.27 others(17): Show c.2780_*2781insCCCCCA	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding		2183		chr8	TogoVar
BMP2K_chr4_78771350_78921365	78786405	A A	ATGTGTG ATGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02280.hp1 others(4): Show HG01243.hp2 HG01891.hp2 HG02280.hp1 HG02723.hp2 HG02970.hp2 HG02976.hp2 HG03516.hp1	a0001 a0008 a0011 others(1): Show a0001 a0008 a0011 a0013	a0001c0001 a0001c0006 a0008c0014 others(2): Show a0001c0001 a0001c0006 a0008c0014 a0011c0026 a0013c0023	a0001c0001t0006 a0001c0006t0004 a0008c0014t0024 others(2): Show a0001c0001t0006 a0001c0006t0004 a0008c0014t0024 a0011c0026t0025 a0013c0023t0005	a0001c0001t0006g0034 a0001c0006t0004g0142 a0001c0006t0004g0143 others(4): Show a0001c0001t0006g0034 a0001c0006t0004g0142 a0001c0006t0004g0143 a0001c0006t0004g0144 a0008c0014t0024g0110 a0011c0026t0025g0109 a0013c0023t0005g0035	7	204	0.0343	6	c.178 others(23): Show c.178+9726_178+9731dupGTGTGT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78829753	A A	ATCCTTT ATCCTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03139.hp2 HG03471.hp2 others(1): Show HG01891.hp1 HG03139.hp2 HG03471.hp2 NA19043.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0008 a0003c0005t0008	a0003c0005t0008g0021 a0003c0005t0008g0130 a0003c0005t0008g0132 others(1): Show a0003c0005t0008g0021 a0003c0005t0008g0130 a0003c0005t0008g0132 a0003c0005t0008g0133	4	204	0.0196	6	c.297 others(23): Show c.297+3600_297+3601insCTTTTC	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78874175	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02615.hp2 others(6): Show HG01243.hp2 HG01891.hp2 HG02615.hp2 HG02723.hp2 HG02970.hp1 HG06807.hp2 NA18939.hp1 NA19005.hp2 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0004 a0002c0002t0002 a0001c0006t0004 a0002c0002t0002	a0001c0006t0004g0045 a0001c0006t0004g0141 a0001c0006t0004g0142 others(6): Show a0001c0006t0004g0045 a0001c0006t0004g0141 a0001c0006t0004g0142 a0001c0006t0004g0143 a0001c0006t0004g0144 a0001c0006t0004g0145 a0002c0002t0002g0164 a0002c0002t0002g0178 a0002c0002t0002g0186	9	204	0.0441	6	c.179 others(25): Show c.1793+1398_1793+1403dupCACACA	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar

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