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
BHMT_chr5_79106809_79137288	79137270	A A	AATACATA others(7): Show AATACATATACGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	432	0.0023	14	c.61 others(25): Show c.6154_*6155insATACATATACGAAT	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4983		chr5	TogoVar
BICC1_chr10_58507872_58836435	58601140	T T	TAATATAT others(7): Show TAATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02257.hp1 HG02965.hp1 others(3): Show HG01081.hp2 HG02257.hp1 HG02965.hp1 HG02976.hp1 HG03239.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0046 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0046 a0002c0002t0020 a0002c0003t0043 a0003c0004t0047	a0001c0001t0001g0100 a0001c0001t0007g0095 a0001c0001t0046g0090 others(3): Show a0001c0001t0001g0100 a0001c0001t0007g0095 a0001c0001t0046g0090 a0002c0002t0020g0101 a0002c0003t0043g0114 a0003c0004t0047g0120	6	132	0.0455	14	c.191 others(33): Show c.191-19715_191-19714insAATATATATATATA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20			chr10	TogoVar
BICC1_chr10_58507872_58836435	58769398	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	132	0.0076	14	c.308 others(33): Show c.308-15602_308-15601insATATATATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58769400	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0039 a0002c0006t0039	a0002c0006t0039g0110 a0002c0006t0039g0110	1	132	0.0076	14	c.308 others(33): Show c.308-15600_308-15599insATATATATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58769402	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0102 a0002c0002t0006g0102	1	132	0.0076	14	c.308 others(33): Show c.308-15598_308-15597insATATATATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32116498	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0121	1	290	0.0035	14	c.213 others(31): Show c.213+8955_213+8956insATATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32116510	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0138 a0001c0002t0005g0138	1	290	0.0035	14	c.213 others(31): Show c.213+8972_213+8985dupATATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32117695	T T	TACACAAA others(7): Show TACACAAATACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG04204.hp2 NA18960.hp1 others(8): Show HG02818.hp1 HG04204.hp2 NA18960.hp1 NA18971.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA19007.hp2 NA19011.hp1 NA19080.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0034 others(4): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0034 a0001c0002t0001 a0001c0002t0005 a0001c0002t0021 a0001c0002t0029	a0001c0001t0004g0114 a0001c0001t0007g0251 a0001c0001t0034g0128 others(8): Show a0001c0001t0004g0114 a0001c0001t0007g0251 a0001c0001t0034g0128 a0001c0002t0001g0082 a0001c0002t0005g0112 a0001c0002t0005g0118 a0001c0002t0005g0127 a0001c0002t0005g0141 a0001c0002t0005g0252 a0001c0002t0021g0249 a0001c0002t0029g0109	11	290	0.0379	14	c.213 others(33): Show c.213+10152_213+10153insCACAAATACACACA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32117711	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0090 a0001c0001t0036g0090	1	290	0.0035	14	c.213 others(33): Show c.213+10179_213+10192dupCACACACACACACA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32148142	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00558.hp2 others(58): Show HG00280.hp1 HG00408.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01081.hp1 HG01175.hp2 HG01358.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02080.hp1 HG02300.hp1 HG02559.hp1 HG02602.hp1 HG02630.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG03017.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp2 NA18947.hp1 NA18947.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18977.hp1 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19057.hp2 NA19064.hp2 NA19082.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0038 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0020 a0001c0002t0025 a0001c0002t0029 a0001c0003t0002 a0001c0003t0013 a0001c0003t0054 a0001c0004t0062 a0001c0006t0001 a0001c0009t0001	a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0003g0050 others(58): Show a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0003g0050 a0001c0001t0003g0067 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0147 a0001c0001t0003g0205 a0001c0001t0004g0136 a0001c0001t0004g0149 a0001c0001t0006g0021 a0001c0001t0008g0119 a0001c0001t0008g0129 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0060 a0001c0001t0009g0068 a0001c0001t0009g0070 a0001c0001t0009g0183 a0001c0001t0010g0014 a0001c0001t0011g0044 a0001c0001t0011g0057 a0001c0001t0011g0080 a0001c0001t0014g0031 a0001c0001t0016g0037 a0001c0001t0018g0268 a0001c0001t0019g0185 a0001c0001t0038g0098 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0077 a0001c0002t0001g0200 a0001c0002t0001g0283 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0053 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0282 a0001c0002t0003g0148 a0001c0002t0003g0168 a0001c0002t0004g0009 a0001c0002t0004g0016 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0020g0052 a0001c0002t0025g0065 a0001c0002t0025g0078 a0001c0002t0029g0109 a0001c0003t0002g0240 a0001c0003t0013g0051 a0001c0003t0054g0079 a0001c0004t0062g0040 a0001c0006t0001g0058 a0001c0009t0001g0056	61	290	0.2103	14	c.213 others(33): Show c.213+40608_213+40609insAAAAAAAAAAAAAA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32148152	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	290	0.0035	14	c.213 others(33): Show c.213+40608_213+40609insAAAAAAAAAAAAAG	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9			chr12	TogoVar
BICD1_chr12_32101847_32388633	32168007	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0133 a0001c0001t0010g0133	1	290	0.0035	14	c.214 others(33): Show c.214-48223_214-48210dupGTGTGTGTGTGTGT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32198323	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG01109.hp1 others(36): Show HG00597.hp1 HG00639.hp2 HG01109.hp1 HG01169.hp1 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG02027.hp1 HG02055.hp1 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02559.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03688.hp1 HG03831.hp2 HG04204.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18980.hp1 NA18989.hp1 NA18999.hp1 NA19011.hp2 NA19030.hp2 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0024 a0001c0001t0060 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0031 a0001c0002t0045 a0001c0003t0042 a0001c0003t0054 a0001c0004t0001 a0001c0005t0012	a0001c0001t0001g0059 a0001c0001t0001g0197 a0001c0001t0001g0202 others(36): Show a0001c0001t0001g0059 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0280 a0001c0001t0003g0067 a0001c0001t0003g0205 a0001c0001t0003g0225 a0001c0001t0003g0230 a0001c0001t0003g0273 a0001c0001t0003g0284 a0001c0001t0004g0019 a0001c0001t0006g0023 a0001c0001t0010g0018 a0001c0001t0011g0254 a0001c0001t0012g0237 a0001c0001t0012g0265 a0001c0001t0019g0173 a0001c0001t0024g0209 a0001c0001t0060g0244 a0001c0002t0001g0066 a0001c0002t0001g0069 a0001c0002t0001g0074 a0001c0002t0002g0047 a0001c0002t0002g0075 a0001c0002t0002g0172 a0001c0002t0002g0207 a0001c0002t0002g0228 a0001c0002t0002g0243 a0001c0002t0003g0168 a0001c0002t0003g0238 a0001c0002t0004g0009 a0001c0002t0005g0011 a0001c0002t0007g0028 a0001c0002t0031g0024 a0001c0002t0045g0201 a0001c0003t0042g0274 a0001c0003t0054g0079 a0001c0004t0001g0196 a0001c0005t0012g0271	39	290	0.1345	14	c.214 others(33): Show c.214-17922_214-17921insATATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32225621	G G	GTTTTTGT others(7): Show GTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18977.hp1 NA18994.hp2 others(2): Show NA18946.hp1 NA18977.hp1 NA18994.hp2 NA19010.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0002t0002 a0001c0002t0005	a0001c0001t0003g0177 a0001c0001t0007g0107 a0001c0001t0010g0014 others(2): Show a0001c0001t0003g0177 a0001c0001t0007g0107 a0001c0001t0010g0014 a0001c0002t0002g0062 a0001c0002t0005g0138	5	290	0.0172	14	c.426 others(31): Show c.426+9167_426+9168insGTTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32225621	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03831.hp2 NA18968.hp2 others(3): Show HG00609.hp1 HG03831.hp2 NA18968.hp2 NA18986.hp2 NA19090.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0010 a0001c0002 a0001c0003 a0002c0010	a0001c0002t0001 a0001c0002t0002 a0001c0002t0020 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0020 a0001c0003t0054 a0002c0010t0008	a0001c0002t0001g0072 a0001c0002t0001g0231 a0001c0002t0002g0053 others(3): Show a0001c0002t0001g0072 a0001c0002t0001g0231 a0001c0002t0002g0053 a0001c0002t0020g0052 a0001c0003t0054g0079 a0002c0010t0008g0256	6	290	0.0207	14	c.426 others(31): Show c.426+9169_426+9182dupTTTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32309150	G G	GTAAATAA others(7): Show GTAAATAAACACATT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02109.hp1 HG02145.hp1 others(23): Show HG01346.hp1 HG02109.hp1 HG02145.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 NA19030.hp1 NA19083.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0030 a0001c0002t0003 a0001c0002t0007 a0001c0002t0037 a0001c0002t0046 a0001c0003t0002 a0001c0003t0013 a0001c0003t0033 a0001c0003t0042 a0001c0003t0052 a0001c0003t0053 a0001c0003t0054	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0004g0287 others(23): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0004g0287 a0001c0001t0006g0162 a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0001t0018g0219 a0001c0001t0018g0227 a0001c0001t0022g0102 a0001c0001t0030g0029 a0001c0002t0003g0148 a0001c0002t0003g0168 a0001c0002t0007g0022 a0001c0002t0007g0028 a0001c0002t0007g0150 a0001c0002t0037g0095 a0001c0002t0046g0262 a0001c0003t0002g0240 a0001c0003t0013g0051 a0001c0003t0013g0189 a0001c0003t0013g0277 a0001c0003t0033g0122 a0001c0003t0042g0274 a0001c0003t0052g0286 a0001c0003t0053g0285 a0001c0003t0054g0079	26	290	0.0897	14	c.100 others(33): Show c.1005+3029_1005+3042dupTAAATAAACACATT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32342128	A A	ATATATAT others(7): Show ATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00558.hp2 others(77): Show HG00280.hp1 HG00408.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18959.hp2 NA18966.hp1 NA18975.hp1 NA19010.hp2 NA19030.hp2 NA19057.hp1 NA19080.hp2 NA19083.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0043 a0001c0001t0060 a0001c0001t0061 a0001c0003t0013 a0001c0003t0042 a0001c0003t0052 a0001c0003t0053 a0001c0003t0054 a0001c0005t0009 a0001c0005t0012 a0001c0007t0050 a0002c0010t0008	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0276 others(77): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0276 a0001c0001t0002g0199 a0001c0001t0004g0134 a0001c0001t0006g0021 a0001c0001t0006g0023 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0105 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0008g0108 a0001c0001t0008g0113 a0001c0001t0008g0125 a0001c0001t0008g0129 a0001c0001t0008g0137 a0001c0001t0008g0140 a0001c0001t0008g0144 a0001c0001t0009g0068 a0001c0001t0009g0070 a0001c0001t0009g0081 a0001c0001t0009g0084 a0001c0001t0009g0086 a0001c0001t0009g0159 a0001c0001t0009g0288 a0001c0001t0010g0003 a0001c0001t0010g0014 a0001c0001t0010g0018 a0001c0001t0010g0103 a0001c0001t0010g0143 a0001c0001t0010g0158 a0001c0001t0010g0161 a0001c0001t0011g0057 a0001c0001t0011g0080 a0001c0001t0011g0254 a0001c0001t0011g0259 a0001c0001t0011g0269 a0001c0001t0012g0211 a0001c0001t0012g0237 a0001c0001t0012g0265 a0001c0001t0015g0042 a0001c0001t0016g0037 a0001c0001t0016g0041 a0001c0001t0016g0154 a0001c0001t0017g0092 a0001c0001t0017g0093 a0001c0001t0017g0094 a0001c0001t0019g0173 a0001c0001t0019g0185 a0001c0001t0019g0191 a0001c0001t0020g0217 a0001c0001t0022g0101 a0001c0001t0022g0102 a0001c0001t0030g0029 a0001c0001t0032g0033 a0001c0001t0035g0097 a0001c0001t0036g0090 a0001c0001t0039g0100 a0001c0001t0043g0236 a0001c0001t0060g0244 a0001c0001t0061g0226 a0001c0003t0013g0189 a0001c0003t0013g0277 a0001c0003t0042g0274 a0001c0003t0052g0286 a0001c0003t0053g0285 a0001c0003t0054g0079 a0001c0005t0009g0270 a0001c0005t0012g0271 a0001c0007t0050g0186 a0002c0010t0008g0256	80	290	0.2759	14	c.276 others(33): Show c.2764+3175_2764+3188dupGTGTATATATATGT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346560	A A	ATATATAT others(7): Show ATATATATACGTGTG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	290	0.0035	14	c.276 others(33): Show c.2764+7589_2764+7590insCGTGTGTATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346568	A A	ATATATAT others(7): Show ATATATATACGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02300.hp1 HG02738.hp2 others(1): Show HG02280.hp2 HG02300.hp1 HG02738.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0280 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0280 a0001c0001t0004g0130	4	290	0.0138	14	c.276 others(33): Show c.2764+7597_2764+7598insCGTGTGTATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346570	A A	ATATATAT others(7): Show ATATATATACGTGTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	290	0.0035	14	c.276 others(33): Show c.2764+7599_2764+7600insCGTGTGTATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32348723	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02015.hp2 NA18960.hp2 others(3): Show HG00408.hp2 HG02015.hp2 NA18960.hp2 NA18983.hp2 NA19011.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0029 a0001c0002t0045	a0001c0001t0001g0255 a0001c0002t0001g0061 a0001c0002t0001g0220 others(3): Show a0001c0001t0001g0255 a0001c0002t0001g0061 a0001c0002t0001g0220 a0001c0002t0004g0106 a0001c0002t0029g0109 a0001c0002t0045g0201	6	290	0.0207	14	c.276 others(33): Show c.2764+9787_2764+9800dupATATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384695	T T	TCTTCTTC others(7): Show TCTTCTTCCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02257.hp1 others(4): Show HG01891.hp2 HG02055.hp1 HG02257.hp1 HG02717.hp1 HG02895.hp2 HG03195.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0019 a0001c0001t0039 a0001c0001t0016 a0001c0001t0019 a0001c0001t0039	a0001c0001t0016g0037 a0001c0001t0016g0041 a0001c0001t0016g0154 others(4): Show a0001c0001t0016g0037 a0001c0001t0016g0041 a0001c0001t0016g0154 a0001c0001t0019g0173 a0001c0001t0019g0185 a0001c0001t0019g0191 a0001c0001t0039g0100	7	290	0.0241	14	c.70 others(25): Show c.7068_*7069insCTTCTTCCTTCTTC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		1063		chr12	TogoVar
BICD2_chr9_92706363_92769833	92757312	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02165.hp2 NA19091.hp2 HG02015.hp1 HG02165.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196	3	360	0.0083	14	c.240 others(31): Show c.240+7179_240+7192dupTTTTTTTTTTTTTT	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/6			chr9	TogoVar
BICDL1_chr12_119984236_120099494	120013439	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02723.hp1 HG04228.hp1 others(4): Show HG00423.hp1 HG02723.hp1 HG04228.hp1 NA18961.hp2 NA18971.hp2 NA18978.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0019	a0001c0001t0002g0145 a0001c0001t0002g0194 a0001c0001t0005g0141 others(4): Show a0001c0001t0002g0145 a0001c0001t0002g0194 a0001c0001t0005g0141 a0001c0001t0005g0198 a0001c0001t0005g0255 a0001c0001t0011g0288 a0001c0001t0019g0179	7	296	0.0237	14	c.645 others(33): Show c.645+14734_645+14747dupGTGTGTGTGTGTGT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120033367	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp1 NA18949.hp2 others(2): Show HG02572.hp2 HG02647.hp1 NA18949.hp2 NA18978.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0003t0009 a0001c0001t0002 a0001c0001t0005 a0001c0003t0009	a0001c0001t0002g0160 a0001c0001t0005g0177 a0001c0001t0005g0255 others(2): Show a0001c0001t0002g0160 a0001c0001t0005g0177 a0001c0001t0005g0255 a0001c0003t0009g0218 a0001c0003t0009g0219	5	296	0.0169	14	c.646 others(33): Show c.646-28335_646-28322dupTTTTTTTTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL2_chr16_3022682_3041944	3034693	C C	CTTCCTTC others(7): Show CTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03516.hp2 HG03579.hp1 HG02257.hp2 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0004 a0001c0005t0001 a0001c0005t0004	a0001c0005t0001g0126 a0001c0005t0004g0054 a0001c0005t0004g0125 a0001c0005t0001g0126 a0001c0005t0004g0054 a0001c0005t0004g0125	3	390	0.0077	14	c.282 others(29): Show c.282+521_282+522insAAGGAAGGAAGGAA	BICDL2	ENSG00000162069.16	transcript	ENST00000572449.6	protein_coding	2/9			chr16	TogoVar
BICRAL_chr6_42777052_42873556	42793122	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	270	0.0037	14	c.-10 others(35): Show c.-102+11047_-102+11060dupTTTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42793296	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	270	0.0037	14	c.-10 others(35): Show c.-102+11211_-102+11224dupTTTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42814499	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	270	0.0037	14	c.-6+ others(29): Show c.-6+4099_-6+4100insGTATATATATATAT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42814499	G G	GTGTGTAT others(7): Show GTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03516.hp1 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0004 a0001c0001t0027	a0001c0001t0004g0133 a0001c0001t0027g0064 a0001c0001t0004g0133 a0001c0001t0027g0064	2	270	0.0074	14	c.-6+ others(29): Show c.-6+4099_-6+4100insGTGTATATATATAT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42818322	G G	GATTAAAT others(7): Show GATTAAATCTTTGAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01884.hp1 others(8): Show HG00642.hp2 HG00741.hp2 HG01884.hp1 HG02615.hp2 HG02886.hp1 HG02976.hp2 HG03098.hp2 HG03486.hp2 HG03491.hp1 HG03831.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0012 a0001c0001t0001g0229 a0001c0001t0001g0230 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0002g0066 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0254 a0001c0001t0005g0065 a0001c0001t0006g0067	11	270	0.0407	14	c.-5- others(29): Show c.-5-3692_-5-3679dupAAATCTTTGATATT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47609023	G G	GGCCCGGC others(7): Show GGCCCGGCAGCGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0269 a0002c0019t0001g0269	1	312	0.0032	14	c.-25 others(23): Show c.-253_-252insGCCCGGCAGCGGCT	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding		110		chr19	TogoVar
BICRA_chr19_47604134_47708277	47656069	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02615.hp1 HG03540.hp2 others(1): Show HG01175.hp2 HG02615.hp1 HG03540.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0180 a0001c0001t0001g0283 a0001c0003t0003g0044 others(1): Show a0001c0001t0001g0180 a0001c0001t0001g0283 a0001c0003t0003g0044 a0001c0003t0003g0219	4	312	0.0128	14	c.-10 others(35): Show c.-107-14345_-107-14332dupACACACACACACAC	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47685741	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02559.hp2 HG03516.hp1 others(1): Show HG00140.hp2 HG02559.hp2 HG03516.hp1 HG03579.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0027 a0001c0001 a0001c0003 a0006c0027	a0001c0001t0001 a0001c0003t0003 a0006c0027t0013 a0001c0001t0001 a0001c0003t0003 a0006c0027t0013	a0001c0001t0001g0278 a0001c0003t0003g0013 a0001c0003t0003g0169 others(1): Show a0001c0001t0001g0278 a0001c0003t0003g0013 a0001c0003t0003g0169 a0006c0027t0013g0203	4	312	0.0128	14	c.228 others(33): Show c.2283+3622_2283+3635dupTGTGTGTGTGTGTG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47685784	T T	TGCGCGCG others(7): Show TGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	312	0.0032	14	c.228 others(33): Show c.2283+3633_2283+3634insCGCGCGCGCGCGCG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47685786	T T	TGCGCGCG others(7): Show TGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03688.hp2 HG00621.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0264 a0001c0001t0001g0195 a0001c0001t0001g0264	2	312	0.0064	14	c.228 others(33): Show c.2283+3635_2283+3648dupGCGCGCGCGCGCGC	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47685786	T T	TGTGTGCG others(7): Show TGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03453.hp2 HG02145.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0009 a0001c0003t0004g0011 a0001c0003t0004g0009 a0001c0003t0004g0011	2	312	0.0064	14	c.228 others(33): Show c.2283+3635_2283+3636insTGTGCGCGCGCGCG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47685786	T T	TGTGTGTG others(7): Show TGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA20129.hp2 HG03486.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0004 a0002c0005t0002 a0001c0003t0004 a0002c0005t0002	a0001c0003t0004g0008 a0002c0005t0002g0207 a0001c0003t0004g0008 a0002c0005t0002g0207	2	312	0.0064	14	c.228 others(33): Show c.2283+3635_2283+3636insTGTGTGTGCGCGCG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BID_chr22_17729138_17779469	17759241	C C	CAAAACAA others(7): Show CAAAACAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp1 HG02809.hp2 others(6): Show HG02145.hp2 HG02622.hp1 HG02809.hp2 HG03453.hp2 HG03710.hp1 HG04228.hp2 NA18941.hp1 NA18955.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0002c0002t0002 a0001c0001t0001 a0001c0001t0009 a0002c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0096 a0001c0001t0001g0122 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0211 a0001c0001t0001g0312 a0001c0001t0009g0333 a0002c0002t0002g0136	9	362	0.0249	14	c.-58 others(31): Show c.-58-9081_-58-9068dupTTTTTTTTTGTTTT	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BID_chr22_17729138_17779469	17759241	C C	CAAAACAA others(7): Show CAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01433.hp2 HG03492.hp2 HG01346.hp1 HG01433.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0334 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0334	3	362	0.0083	14	c.-58 others(31): Show c.-58-9068_-58-9067insTTTTGTTTTGTTTT	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BID_chr22_17729138_17779469	17759245	A A	ACAAAAAA others(7): Show ACAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	362	0.0028	14	c.-58 others(31): Show c.-58-9072_-58-9071insGTTTTTTTTTTTTG	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BID_chr22_17729138_17779469	17759246	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp2 HG01192.hp2 others(4): Show HG00140.hp2 HG00738.hp2 HG01192.hp2 HG01261.hp1 HG02109.hp1 HG02723.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0011 a0001c0001t0001 a0001c0006t0011	a0001c0001t0001g0163 a0001c0001t0001g0196 a0001c0001t0001g0212 others(4): Show a0001c0001t0001g0163 a0001c0001t0001g0196 a0001c0001t0001g0212 a0001c0001t0001g0335 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0006t0011g0197	7	362	0.0193	14	c.-58 others(31): Show c.-58-9073_-58-9072insTGTTTTTTTTTTTT	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BIK_chr22_43105750_43134712	43126188	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp2 HG03195.hp2 others(2): Show HG02809.hp1 HG03041.hp2 HG03195.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0067 a0001c0001t0003g0084 others(1): Show a0001c0001t0003g0034 a0001c0001t0003g0067 a0001c0001t0003g0084 a0001c0001t0003g0157	5	386	0.0130	14	c.162 others(31): Show c.162-1507_162-1494dupTTTTTTTTTTTTTT	BIK	ENSG00000100290.3	transcript	ENST00000216115.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
BIN1_chr2_127043032_127112154	127089272	G G	GGCCCTTA others(7): Show GGCCCTTAAAACCCA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	344	0.0029	14	c.85- others(31): Show c.85-12580_85-12567dupTGGGTTTTAAGGGC	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BIN2_chr12_51276038_51329174	51319955	C C	CTCTCCTT others(7): Show CTCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18988.hp2 NA18995.hp2 others(1): Show NA18978.hp2 NA18988.hp2 NA18995.hp2 NA19011.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0027 a0002c0007t0001g0028 a0002c0007t0001g0031 others(1): Show a0002c0007t0001g0027 a0002c0007t0001g0028 a0002c0007t0001g0031 a0002c0007t0001g0062	4	400	0.0100	14	c.81+ others(29): Show c.81+4066_81+4067insAGGAAGGAAGGAGA	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51320934	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp2 HG01123.hp2 others(18): Show HG00099.hp1 HG01071.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01243.hp2 HG01261.hp1 HG01515.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp2 HG02683.hp1 HG03710.hp2 HG03834.hp2 HG04228.hp2 NA18906.hp1 NA18948.hp1 NA18957.hp2 NA18973.hp1 NA18990.hp1 NA19240.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0004 a0003c0003 others(1): Show a0001c0001 a0001c0004 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 a0004c0005t0001	a0001c0001t0001g0163 a0001c0001t0001g0235 a0001c0001t0001g0258 others(18): Show a0001c0001t0001g0163 a0001c0001t0001g0235 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0004t0001g0260 a0001c0004t0001g0261 a0001c0004t0001g0341 a0001c0004t0001g0342 a0001c0004t0001g0347 a0001c0004t0001g0348 a0003c0003t0001g0234 a0003c0003t0001g0346 a0004c0005t0001g0050 a0004c0005t0001g0051	21	400	0.0525	14	c.81+ others(29): Show c.81+3087_81+3088insGTGTGTGTGTGTGT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIN3_chr8_22615418_22674121	22649850	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02257.hp2 HG02698.hp2 others(3): Show HG02135.hp1 HG02257.hp2 HG02698.hp2 HG03688.hp1 NA19058.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0332 a0001c0001t0002g0031 a0001c0001t0002g0052 others(3): Show a0001c0001t0001g0332 a0001c0001t0002g0031 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0083 a0001c0001t0002g0329	6	386	0.0155	14	c.9-5 others(27): Show c.9-5048_9-5047insATGTGTGTGTGTGT	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	1/8			chr8	TogoVar
BIRC2_chr11_102342214_102383670	102342340	G G	GTGTATTT others(7): Show GTGTATTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01981.hp2 NA18955.hp1 others(1): Show HG00280.hp2 HG01981.hp2 NA18955.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0051 a0001c0001t0001g0208 a0001c0001t0001g0276 others(1): Show a0001c0001t0001g0051 a0001c0001t0001g0208 a0001c0001t0001g0276 a0001c0004t0001g0038	4	344	0.0116	14	c.-62 others(25): Show c.-6294_-6293insTGTATTTATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4873		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102342344	G G	GTATATGT others(7): Show GTATATGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	344	0.0029	14	c.-62 others(25): Show c.-6290_-6289insTATATGTATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4869		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102342344	G G	GTATATGT others(7): Show GTATATGTATGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01943.hp1 HG01167.hp2 HG01169.hp2 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0014 a0001c0001t0001g0015	3	344	0.0087	14	c.-62 others(25): Show c.-6290_-6289insTATATGTATGTATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4869		chr11	TogoVar

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