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
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA21309.hp1 HG02818.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0069 a0001c0002t0002g0070	2	74	0.0270	17	c.202 others(36): Show c.2029+3574_2029+3575insAAAAAAAAATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0018 a0002c0005t0001g0018	1	74	0.0135	17	c.202 others(36): Show c.2029+3574_2029+3575insAAAAATATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0004 a0002c0007t0001g0004	1	74	0.0135	17	c.202 others(36): Show c.2029+3574_2029+3575insAAATATATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61176164	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0074 a0002c0005t0002g0074	1	74	0.0135	17	c.242 others(38): Show c.2425+91603_2425+91604insAAAAAAAAAAAAGGAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61271424	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01952.hp1 HG02145.hp1 others(16): Show HG01891.hp2 HG01952.hp1 HG02145.hp1 HG02486.hp1 HG02818.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18951.hp2 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0003 others(3): Show a0001c0002 a0001c0004 a0002c0003 a0002c0005 a0002c0007 a0003c0001	a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0002c0003t0001 a0002c0003t0002 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001 a0003c0001t0001 a0003c0001t0002	a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0067 others(16): Show a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0002g0064 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0004t0002g0035 a0001c0004t0002g0072 a0002c0003t0001g0015 a0002c0003t0001g0040 a0002c0003t0001g0052 a0002c0003t0002g0036 a0002c0003t0002g0039 a0002c0003t0002g0048 a0002c0005t0001g0051 a0002c0005t0002g0074 a0002c0007t0001g0004 a0003c0001t0001g0002 a0003c0001t0002g0032	19	74	0.2568	17	c.242 others(38): Show c.2426-96890_2426-96889insTTTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24844894	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01361.hp1 others(2): Show HG01069.hp1 HG01069.hp2 HG01361.hp1 HG02723.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0033 a0001c0001t0008 a0001c0001t0011 a0001c0001t0033	a0001c0001t0008g0268 a0001c0001t0011g0039 a0001c0001t0011g0271 others(2): Show a0001c0001t0008g0268 a0001c0001t0011g0039 a0001c0001t0011g0271 a0001c0001t0011g0280 a0001c0001t0033g0243	5	322	0.0155	17	c.675 others(34): Show c.675-2687_675-2671dupTTTTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	6/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0022 a0001c0001t0090g0022	1	322	0.0031	17	c.280 others(34): Show c.280-5670_280-5669insATATTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24951590	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG04115.hp1 NA18940.hp2 others(1): Show HG02559.hp1 HG04115.hp1 NA18940.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0096 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0096 a0001c0003t0007	a0001c0001t0001g0135 a0001c0001t0003g0134 a0001c0001t0096g0124 others(1): Show a0001c0001t0001g0135 a0001c0001t0003g0134 a0001c0001t0096g0124 a0001c0003t0007g0101	4	322	0.0124	17	c.-26 others(28): Show c.-2659_-2658insTTTTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding		2490		chr12	TogoVar
BCAT2_chr19_48790064_48816029	48811494	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01257.hp1 HG01261.hp2 others(9): Show HG01069.hp2 HG01257.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG01975.hp1 HG02040.hp1 HG02132.hp1 HG02273.hp2 NA18946.hp1 NA18963.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0053 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0245	12	408	0.0294	17	c.-48 others(26): Show c.-488_-487insTTTTTTTTTTTTTTTTT	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding		466		chr19	TogoVar
BCL11B_chr14_99164287_99277197	99199689	C C	CGCGCGCG others(10): Show CGCGCGCGCGCGCGCGCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0190 a0001c0001t0014g0190	1	350	0.0029	17	c.641 others(36): Show c.641-23495_641-23494insAGCGCGCGCGCGCGCGC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL2A1_chr15_79955892_79976196	79959784	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0020 a0004c0004t0001g0020	1	436	0.0023	17	c.12 others(28): Show c.1282_*1283insTTTTTTTTTTTTTTTTT	BCL2A1	ENSG00000140379.9	transcript	ENST00000267953.4	protein_coding		1107		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111170699	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG02523.hp1 others(9): Show HG00544.hp1 HG00609.hp2 HG02523.hp1 HG02922.hp1 NA18956.hp1 NA18979.hp1 NA18985.hp1 NA19002.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0070 a0001c0001t0002 a0001c0001t0013 a0001c0001t0070	a0001c0001t0002g0016 a0001c0001t0002g0279 a0001c0001t0002g0280 others(9): Show a0001c0001t0002g0016 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0289 a0001c0001t0002g0301 a0001c0001t0013g0016 a0001c0001t0013g0222 a0001c0001t0070g0278	12	398	0.0302	17	c.64 others(28): Show c.6468_*6469insAAAAAAAAAAAAAAAAA	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding		2256		chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17711304	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0030 a0003c0004t0030	a0003c0004t0030g0101 a0003c0004t0030g0101	1	306	0.0033	17	c.600 others(34): Show c.600+8929_600+8930insTTTTTTTTTTTTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715170	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0259 a0001c0002t0001g0259	1	306	0.0033	17	c.601 others(36): Show c.601-11506_601-11505insATATATATATTTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17717380	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0015 a0003c0004t0015	a0003c0004t0015g0081 a0003c0004t0015g0081	1	306	0.0033	17	c.601 others(34): Show c.601-9291_601-9290insAAAAAAAAAAAAAAAAA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2_chr18_63118346_63324769	63218652	C C	CTCATCCC others(10): Show CTCATCCCCATCCTCCAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01978.hp1 others(6): Show HG00738.hp1 HG01069.hp2 HG01978.hp1 HG01993.hp1 HG02109.hp2 HG06807.hp2 NA18747.hp2 NA18944.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009	a0001c0001t0001g0103 a0001c0001t0001g0162 a0001c0001t0003g0171 others(6): Show a0001c0001t0001g0103 a0001c0001t0001g0162 a0001c0001t0003g0171 a0001c0001t0007g0131 a0001c0001t0007g0209 a0001c0001t0018g0185 a0001c0002t0002g0075 a0001c0002t0006g0057 a0001c0002t0009g0074	9	264	0.0341	17	c.586 others(36): Show c.586-89910_586-89894dupCTGGAGGATGGGGATGA	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63218751	C C	CACTCATC others(10): Show CACTCATCCCCATCCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(204): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0030 a0001c0001t0037 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0015 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0039 a0001c0002t0041 a0001c0004t0002 a0001c0004t0006 a0001c0004t0008 a0001c0004t0038 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0021	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(204): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0114 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0139 a0001c0001t0003g0144 a0001c0001t0003g0148 a0001c0001t0003g0170 a0001c0001t0003g0174 a0001c0001t0003g0179 a0001c0001t0003g0187 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0225 a0001c0001t0003g0236 a0001c0001t0003g0244 a0001c0001t0004g0151 a0001c0001t0004g0155 a0001c0001t0004g0188 a0001c0001t0004g0193 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0206 a0001c0001t0005g0130 a0001c0001t0005g0132 a0001c0001t0005g0161 a0001c0001t0005g0169 a0001c0001t0005g0176 a0001c0001t0005g0184 a0001c0001t0006g0001 a0001c0001t0006g0005 a0001c0001t0006g0022 a0001c0001t0006g0028 a0001c0001t0006g0030 a0001c0001t0007g0126 a0001c0001t0007g0131 a0001c0001t0007g0166 a0001c0001t0007g0209 a0001c0001t0007g0226 a0001c0001t0007g0231 a0001c0001t0010g0137 a0001c0001t0010g0138 a0001c0001t0010g0189 a0001c0001t0011g0033 a0001c0001t0012g0234 a0001c0001t0012g0239 a0001c0001t0012g0242 a0001c0001t0013g0116 a0001c0001t0013g0157 a0001c0001t0013g0229 a0001c0001t0014g0108 a0001c0001t0014g0135 a0001c0001t0014g0149 a0001c0001t0016g0010 a0001c0001t0017g0219 a0001c0001t0017g0245 a0001c0001t0018g0160 a0001c0001t0018g0185 a0001c0001t0019g0153 a0001c0001t0019g0237 a0001c0001t0020g0120 a0001c0001t0023g0258 a0001c0001t0023g0259 a0001c0001t0030g0031 a0001c0001t0037g0002 a0001c0001t0040g0154 a0001c0001t0042g0124 a0001c0001t0043g0125 a0001c0001t0044g0109 a0001c0001t0045g0147 a0001c0001t0047g0128 a0001c0001t0048g0140 a0001c0001t0049g0173 a0001c0001t0050g0152 a0001c0001t0052g0230 a0001c0001t0053g0251 a0001c0001t0056g0254 a0001c0001t0057g0253 a0001c0001t0058g0257 a0001c0001t0059g0256 a0001c0001t0060g0263 a0001c0001t0061g0262 a0001c0001t0062g0260 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0002g0046 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0086 a0001c0002t0003g0249 a0001c0002t0006g0057 a0001c0002t0006g0065 a0001c0002t0006g0069 a0001c0002t0008g0083 a0001c0002t0009g0048 a0001c0002t0009g0060 a0001c0002t0009g0074 a0001c0002t0009g0087 a0001c0002t0009g0088 a0001c0002t0009g0089 a0001c0002t0010g0250 a0001c0002t0011g0070 a0001c0002t0011g0071 a0001c0002t0015g0061 a0001c0002t0015g0062 a0001c0002t0025g0047 a0001c0002t0026g0055 a0001c0002t0027g0056 a0001c0002t0033g0077 a0001c0002t0034g0072 a0001c0002t0035g0079 a0001c0002t0039g0091 a0001c0002t0041g0246 a0001c0004t0002g0037 a0001c0004t0002g0041 a0001c0004t0002g0044 a0001c0004t0006g0038 a0001c0004t0008g0042 a0001c0004t0038g0040 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0098 a0002c0003t0003g0095 a0002c0003t0003g0099 a0002c0003t0004g0096 a0002c0003t0004g0097 a0002c0003t0021g0092	207	264	0.7841	17	c.586 others(36): Show c.586-89993_586-89992insAGAGGATGGGGATGAGT	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL9_chr1_147536501_147631216	147540231	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01346.hp2 HG01978.hp2 HG01258.hp1 HG01346.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0015 a0001c0001t0004g0150 a0001c0001t0005g0153 a0001c0001t0001g0015 a0001c0001t0004g0150 a0001c0001t0005g0153	3	316	0.0095	17	c.-19 others(28): Show c.-1921_-1920insCTCTCTCTCTCTCTCTC	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		1269		chr1	TogoVar
BCO1_chr16_81233689_81296142	81246850	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01433.hp1 HG02071.hp2 others(3): Show HG00438.hp1 HG01433.hp1 HG02071.hp2 NA18979.hp2 NA19005.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0001c0002t0002 a0002c0004t0001 a0001c0002t0001 a0001c0002t0002 a0002c0004t0001	a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 others(3): Show a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0002g0034 a0002c0004t0001g0033	6	402	0.0149	17	c.193 others(34): Show c.193+1249_193+1265dupAAAAAAAAAAAAAAAAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO1_chr16_81233689_81296142	81248405	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03516.hp1 NA19240.hp1 others(1): Show HG02559.hp2 HG03516.hp1 NA19240.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0005 a0006c0016 a0001c0002 a0001c0005 a0006c0016	a0001c0002t0001 a0001c0005t0001 a0006c0016t0001 a0001c0002t0001 a0001c0005t0001 a0006c0016t0001	a0001c0002t0001g0014 a0001c0005t0001g0012 a0001c0005t0001g0013 others(1): Show a0001c0002t0001g0014 a0001c0005t0001g0012 a0001c0005t0001g0013 a0006c0016t0001g0010	4	402	0.0100	17	c.193 others(34): Show c.193+2807_193+2823dupAAAAAAAAAAAAAAAAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCORL1_chrX_129977635_130063071	130043785	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18994.hp1 NA18953.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0112 a0001c0001t0001g0113	2	203	0.0099	17	c.484 others(36): Show c.4840+4503_4840+4504insATATATATATATATATA	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13			chrX	TogoVar
BCOR_chrX_40046251_40102958	40056281	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0146 a0001c0006t0003g0146	1	257	0.0039	17	c.459 others(34): Show c.4596-785_4596-769dupTTTTTTTTTTTTTTTTT	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	11/14			chrX	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGGTGTGT others(10): Show GGGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0108 a0001c0001t0093g0108	1	319	0.0031	17	c.12 others(28): Show c.1295_*1296insACACACACACACACACC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197510684	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0261 a0001c0001t0113g0261	1	319	0.0031	17	c.12 others(28): Show c.1210_*1211insACACACACACACACACA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1210		chr3	TogoVar
BEGAIN_chr14_100532147_100592417	100546339	A A	ACCCCGGC others(10): Show ACCCCGGCCCTCGCCCCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01517.hp1 HG01952.hp1 others(15): Show HG00558.hp2 HG01517.hp1 HG01952.hp1 HG02015.hp2 HG02523.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04204.hp2 NA18940.hp2 NA18979.hp1 NA18999.hp1 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0004 a0005c0011 a0001c0002 a0001c0004 a0005c0011	a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 others(3): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0012 a0001c0004t0003 a0005c0011t0009	a0001c0002t0001g0020 a0001c0002t0001g0030 a0001c0002t0001g0043 others(15): Show a0001c0002t0001g0020 a0001c0002t0001g0030 a0001c0002t0001g0043 a0001c0002t0001g0070 a0001c0002t0001g0087 a0001c0002t0001g0154 a0001c0002t0001g0158 a0001c0002t0001g0214 a0001c0002t0001g0223 a0001c0002t0001g0229 a0001c0002t0001g0245 a0001c0002t0001g0269 a0001c0002t0004g0161 a0001c0002t0004g0258 a0001c0002t0006g0302 a0001c0002t0012g0150 a0001c0004t0003g0028 a0005c0011t0009g0014	18	326	0.0552	17	c.233 others(32): Show c.233+145_233+161dupCGGGGCGAGGGCCGGGG	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	3/6			chr14	TogoVar
BEGAIN_chr14_100532147_100592417	100546476	C C	CCCCGGCC others(10): Show CCCCGGCCCTCGCCCCGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0159	1	326	0.0031	17	c.233 others(30): Show c.233+24_233+25insCCGGGGCGAGGGCCGGG	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	3/6			chr14	TogoVar
BEGAIN_chr14_100532147_100592417	100567498	T T	TGGGGGTG others(10): Show TGGGGGTGGGGTGGGGTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0064 a0001c0003t0001g0064	1	326	0.0031	17	c.71+ others(30): Show c.71+396_71+412dupGACCCCACCCCACCCCC	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	2/6			chr14	TogoVar
BEND3_chr6_107060182_107120515	107109442	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0163 a0001c0001t0022g0163	1	368	0.0027	17	c.-12 others(34): Show c.-12+5647_-12+5648insTTTTTTTTTTTTTTTTT	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	1/3			chr6	TogoVar
BEND4_chr4_42105853_42157655	42123701	A A	AAACAAAA others(10): Show AAACAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	226	0.0044	17	c.114 others(36): Show c.1146+1881_1146+1882insGTTTTTGTTTTTTTGTT	BEND4	ENSG00000188848.17	transcript	ENST00000502486.6	protein_coding	4/5			chr4	TogoVar
BEND7_chr10_13436088_13534014	13445504	C C	CCAGCTGT others(10): Show CCAGCTGTGAGGCCGTGG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04199.hp2 HG02738.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0259 a0001c0001t0002g0260	2	300	0.0067	17	c.123 others(36): Show c.1234+1745_1234+1761dupCCACGGCCTCACAGCTG	BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	8/8			chr10	TogoVar
BEST3_chr12_69648609_69704303	69680310	C C	CTTCTTTT others(10): Show CTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01243.hp1 HG01891.hp2 others(26): Show HG00438.hp2 HG01243.hp1 HG01891.hp2 HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp1 HG03540.hp2 NA18747.hp2 NA19043.hp2 NA19085.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0006t0006 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0198 a0001c0001t0001g0201 others(23): Show a0001c0001t0001g0011 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0002g0259 a0001c0001t0002g0292 a0001c0001t0010g0239 a0001c0001t0010g0314 a0001c0006t0006g0238 a0002c0002t0002g0252 a0003c0003t0001g0033 a0003c0003t0001g0220 a0003c0003t0001g0223 a0003c0003t0001g0226 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0234	29	366	0.0792	17	c.482 others(34): Show c.482-1418_482-1417insAAAAAAAAAAAAAAGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69686771	C C	CAAAAAAA others(10): Show CAAAAAAACAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02723.hp2 HG03491.hp1 others(9): Show HG00438.hp2 HG02723.hp2 HG03491.hp1 HG03831.hp2 HG04204.hp2 NA18947.hp1 NA18990.hp1 NA19065.hp2 NA19085.hp1 NA19091.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0002c0002 a0006c0012 others(1): Show a0001c0001 a0002c0002 a0006c0012 a0008c0011	a0001c0001t0002 a0002c0002t0002 a0006c0012t0002 others(1): Show a0001c0001t0002 a0002c0002t0002 a0006c0012t0002 a0008c0011t0002	a0001c0001t0002g0065 a0001c0001t0002g0259 a0001c0001t0002g0291 others(9): Show a0001c0001t0002g0065 a0001c0001t0002g0259 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0002c0002t0002g0240 a0002c0002t0002g0252 a0002c0002t0002g0254 a0006c0012t0002g0311 a0008c0011t0002g0258	12	366	0.0328	17	c.481 others(34): Show c.481+6886_481+6902dupTTTTTTTTTGTTTTTTT	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BFSP2_chr3_133395056_133480208	133466677	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG01928.hp2 others(6): Show HG00738.hp1 HG01243.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp2 HG02258.hp1 HG02523.hp1 HG03041.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0065 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0155 a0001c0001t0001g0234 a0001c0001t0001g0261 a0001c0002t0001g0128 a0001c0002t0001g0178	9	276	0.0326	17	c.892 others(32): Show c.892-147_892-131dupAAAAAAAAAAAAAAAAA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BICD1_chr12_32101847_32388633	32182278	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0270 a0001c0005t0009g0270	1	290	0.0035	17	c.214 others(36): Show c.214-33963_214-33947dupTTTTTTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384600	T T	TTCTTCTT others(10): Show TTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	290	0.0035	17	c.69 others(28): Show c.6973_*6974insTCTTCTTCTTCTTCTTC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		968		chr12	TogoVar
BICD2_chr9_92706363_92769833	92757312	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0198 a0001c0001t0005g0198	1	360	0.0028	17	c.240 others(34): Show c.240+7176_240+7192dupTTTTTTTTTTTTTTTTT	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/6			chr9	TogoVar
BICDL1_chr12_119984236_120099494	120033367	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp2 HG02451.hp1 others(5): Show HG00642.hp2 HG01175.hp2 HG02451.hp1 HG02486.hp1 HG02886.hp1 HG02897.hp1 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0235 others(5): Show a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0235 a0001c0002t0004g0236 a0001c0002t0004g0238 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0249	8	296	0.0270	17	c.646 others(36): Show c.646-28338_646-28322dupTTTTTTTTTTTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120057818	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	296	0.0034	17	c.646 others(34): Show c.646-3878_646-3862dupTTTTTTTTTTTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL2_chr16_3022682_3041944	3034710	C C	CCCCTTCC others(10): Show CCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	390	0.0026	17	c.282 others(32): Show c.282+504_282+505insAAGGAAGGAAGGAAGGG	BICDL2	ENSG00000162069.16	transcript	ENST00000572449.6	protein_coding	2/9			chr16	TogoVar
BICRAL_chr6_42777052_42873556	42814520	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	270	0.0037	17	c.-6+ others(32): Show c.-6+4119_-6+4120insATATATATATATATATA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12			chr6	TogoVar
BIRC5_chr17_78209253_78230635	78213359	G G	GAGAGGTG others(10): Show GAGAGGTGCCAACCTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG02622.hp1 others(10): Show HG02109.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03209.hp2 HG03486.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 others(1): Show a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0031	a0001c0001t0009g0017 a0001c0001t0009g0019 a0001c0001t0011g0017 others(3): Show a0001c0001t0009g0017 a0001c0001t0009g0019 a0001c0001t0011g0017 a0001c0001t0014g0034 a0001c0001t0014g0073 a0001c0001t0031g0074	13	432	0.0301	17	c.-95 others(26): Show c.-958_-957insAGAGGTGCCAACCTCTA	BIRC5	ENSG00000089685.15	transcript	ENST00000350051.8	protein_coding		893		chr17	TogoVar
BIRC6_chr2_32352023_32623878	32354354	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0002 a0011c0028t0002	a0011c0028t0002g0179 a0011c0028t0002g0179	1	274	0.0037	17	c.-28 others(28): Show c.-2808_-2807insAAAAAAAAAAAAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding		2668		chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0132 a0001c0003t0003g0132	1	274	0.0037	17	c.475 others(36): Show c.4754-2921_4754-2920insATATATATATATATTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19030.hp1 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0109 a0001c0008t0003g0145 a0001c0008t0003g0109 a0001c0008t0003g0145	2	274	0.0073	17	c.475 others(36): Show c.4754-2921_4754-2920insATATATATATTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02055.hp1 HG01175.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0003 a0001c0003t0003 a0001c0008t0003	a0001c0003t0003g0264 a0001c0008t0003g0108 a0001c0003t0003g0264 a0001c0008t0003g0108	2	274	0.0073	17	c.475 others(36): Show c.4754-2921_4754-2920insATATATATTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461147	C C	CCTCCCCT others(10): Show CCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01069.hp2 others(21): Show HG00280.hp2 HG00639.hp1 HG01069.hp2 HG01099.hp2 HG02083.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02970.hp1 HG03704.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18960.hp2 NA18963.hp1 NA18979.hp2 NA19003.hp1 NA19009.hp1 NA19057.hp1 NA19066.hp1 NA19084.hp2 NA19088.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0015 a0001c0023	a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 others(4): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001 a0001c0010t0002 a0001c0015t0001 a0001c0023t0001	a0001c0001t0001g0056 a0001c0001t0001g0100 a0001c0001t0001g0107 others(21): Show a0001c0001t0001g0056 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0001g0268 a0001c0003t0002g0130 a0001c0003t0003g0102 a0001c0003t0003g0124 a0001c0003t0003g0129 a0001c0003t0003g0131 a0001c0003t0003g0132 a0001c0003t0003g0139 a0001c0005t0001g0207 a0001c0005t0001g0227 a0001c0005t0001g0230 a0001c0005t0001g0270 a0001c0010t0002g0253 a0001c0015t0001g0191 a0001c0023t0001g0229	24	274	0.0876	17	c.475 others(36): Show c.4754-2034_4754-2033insCCCTCTCCCCTCCCCTC	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(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03486.hp1 HG00735.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0148 a0002c0002t0003g0043 a0002c0002t0002g0148 a0002c0002t0003g0043	2	274	0.0073	17	c.740 others(34): Show c.7409-678_7409-662dupTTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32508276	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0158 a0001c0014t0001g0158	1	274	0.0037	17	c.998 others(32): Show c.9980+28_9980+44dupTTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	51/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC7_chr20_63230905_63245495	63231941	T T	TGAAAGCA others(10): Show TGAAAGCAAGTTTCTTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	300	0.0033	17	c.-41 others(28): Show c.-4156_-4155insGAAAGCAAGTTTCTTAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		3963		chr20	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01169.hp2 HG02015.hp2 others(15): Show HG00621.hp2 HG01169.hp2 HG02015.hp2 HG03017.hp1 NA18939.hp1 NA18940.hp1 NA18954.hp1 NA18956.hp1 NA18961.hp2 NA18965.hp2 NA18967.hp1 NA18981.hp1 NA18986.hp2 NA18987.hp1 NA18995.hp2 NA19066.hp1 NA19086.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0024 a0001c0001t0002g0088 others(12): Show a0001c0001t0002g0012 a0001c0001t0002g0024 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0126 a0001c0001t0002g0134 a0001c0001t0002g0155 a0001c0001t0002g0198	18	404	0.0446	17	c.103 others(36): Show c.1035-1137_1035-1121dupTTTTTTTTTTTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar

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