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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BHLHE40_chr3_4974437_4990323	4983829	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0039	a0001c0003t0039g0009 a0001c0003t0039g0009	1	436	0.0023	13	c.13 others(22): Show c.137_*138insTGTGTGTGTGTGT		BHLHE40	ENSG00000134107.5	transcript	ENST00000256495.4	protein_coding	5/5				138		chr3	TogoVar
BICC1_chr10_58507872_58836435	58571370	A A	ATGCATAG others(6): Show ATGCATAGGTTTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03098.hp1 HG00639.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0004 a0001c0001t0005 a0002c0002t0004	a0001c0001t0005g0014 a0002c0002t0004g0015 a0001c0001t0005g0014 a0002c0002t0004g0015	2	132	0.0152	13	c.191 others(32): Show c.191-49481_191-49480insTAGGTTTGTTGCA		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58601140	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0086 a0001c0001t0048g0086	1	132	0.0076	13	c.191 others(32): Show c.191-19715_191-19714insATATATATATATA		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20						chr10	TogoVar
BICD1_chr12_32101847_32388633	32142444	C C	CCTATCCA others(6): Show CCTATCCATCCTAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0290 a0001c0002t0005g0290	1	290	0.0035	13	c.213 others(32): Show c.213+34905_213+34906insCATCCTATCTATC		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32142444	C C	CCTATCTA others(6): Show CCTATCTATCCTAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02004.hp2 HG02027.hp2 others(20): Show HG01081.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02129.hp2 HG02132.hp2 HG02523.hp1 HG02683.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18961.hp1 NA18969.hp2 NA18980.hp2 NA18999.hp1 NA19007.hp1 NA19060.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 others(13): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0028 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0026 a0001c0002t0041 a0001c0002t0051	a0001c0001t0003g0246 a0001c0001t0003g0257 a0001c0001t0008g0144 others(20): Show a0001c0001t0003g0246 a0001c0001t0003g0257 a0001c0001t0008g0144 a0001c0001t0015g0042 a0001c0001t0016g0041 a0001c0001t0028g0006 a0001c0001t0058g0221 a0001c0001t0059g0223 a0001c0001t0061g0226 a0001c0002t0001g0179 a0001c0002t0001g0222 a0001c0002t0002g0263 a0001c0002t0004g0002 a0001c0002t0004g0007 a0001c0002t0004g0009 a0001c0002t0004g0015 a0001c0002t0004g0017 a0001c0002t0005g0001 a0001c0002t0005g0008 a0001c0002t0007g0010 a0001c0002t0026g0013 a0001c0002t0041g0176 a0001c0002t0051g0266	23	290	0.0793	13	c.213 others(32): Show c.213+34910_213+34922dupCTATCTATCTATC		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(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(151): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0039 a0001c0001t0049 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0021 a0001c0002t0026 a0001c0002t0031 a0001c0002t0037 a0001c0002t0041 a0001c0002t0045 a0001c0002t0046 a0001c0002t0051 a0001c0003t0033 a0001c0004t0014 a0001c0005t0009 a0001c0005t0012 a0001c0008t0003 a0002c0010t0008	a0001c0001t0001g0049 a0001c0001t0001g0174 a0001c0001t0001g0181 others(151): Show a0001c0001t0001g0049 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0289 a0001c0001t0002g0199 a0001c0001t0003g0198 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0225 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0246 a0001c0001t0003g0257 a0001c0001t0003g0261 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0284 a0001c0001t0004g0019 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0142 a0001c0001t0004g0170 a0001c0001t0006g0023 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0105 a0001c0001t0007g0005 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0107 a0001c0001t0007g0139 a0001c0001t0007g0146 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0008g0108 a0001c0001t0008g0113 a0001c0001t0008g0123 a0001c0001t0008g0125 a0001c0001t0008g0137 a0001c0001t0008g0140 a0001c0001t0008g0144 a0001c0001t0010g0003 a0001c0001t0010g0018 a0001c0001t0010g0103 a0001c0001t0010g0133 a0001c0001t0010g0143 a0001c0001t0010g0158 a0001c0001t0010g0161 a0001c0001t0011g0235 a0001c0001t0011g0254 a0001c0001t0011g0259 a0001c0001t0012g0237 a0001c0001t0012g0265 a0001c0001t0015g0020 a0001c0001t0015g0025 a0001c0001t0015g0042 a0001c0001t0016g0041 a0001c0001t0017g0093 a0001c0001t0017g0094 a0001c0001t0018g0219 a0001c0001t0018g0227 a0001c0001t0019g0173 a0001c0001t0020g0217 a0001c0001t0022g0101 a0001c0001t0022g0102 a0001c0001t0023g0096 a0001c0001t0023g0099 a0001c0001t0024g0209 a0001c0001t0028g0006 a0001c0001t0030g0029 a0001c0001t0032g0033 a0001c0001t0034g0128 a0001c0001t0035g0097 a0001c0001t0039g0100 a0001c0001t0049g0242 a0001c0001t0055g0039 a0001c0001t0057g0245 a0001c0001t0058g0221 a0001c0001t0059g0223 a0001c0001t0060g0244 a0001c0002t0001g0175 a0001c0002t0001g0179 a0001c0002t0001g0220 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0231 a0001c0002t0001g0267 a0001c0002t0002g0121 a0001c0002t0002g0131 a0001c0002t0002g0172 a0001c0002t0002g0192 a0001c0002t0002g0207 a0001c0002t0002g0228 a0001c0002t0002g0241 a0001c0002t0002g0243 a0001c0002t0002g0253 a0001c0002t0002g0263 a0001c0002t0003g0238 a0001c0002t0004g0002 a0001c0002t0004g0007 a0001c0002t0004g0015 a0001c0002t0004g0017 a0001c0002t0004g0106 a0001c0002t0004g0117 a0001c0002t0004g0171 a0001c0002t0005g0001 a0001c0002t0005g0008 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0005g0104 a0001c0002t0005g0112 a0001c0002t0005g0116 a0001c0002t0005g0118 a0001c0002t0005g0124 a0001c0002t0005g0126 a0001c0002t0005g0127 a0001c0002t0005g0135 a0001c0002t0005g0138 a0001c0002t0005g0141 a0001c0002t0005g0151 a0001c0002t0005g0248 a0001c0002t0005g0252 a0001c0002t0005g0290 a0001c0002t0007g0010 a0001c0002t0007g0022 a0001c0002t0007g0028 a0001c0002t0007g0150 a0001c0002t0008g0115 a0001c0002t0008g0145 a0001c0002t0021g0169 a0001c0002t0021g0249 a0001c0002t0026g0013 a0001c0002t0031g0024 a0001c0002t0037g0095 a0001c0002t0041g0176 a0001c0002t0045g0201 a0001c0002t0046g0262 a0001c0002t0051g0266 a0001c0003t0033g0122 a0001c0004t0014g0004 a0001c0005t0009g0270 a0001c0005t0012g0271 a0001c0008t0003g0206 a0002c0010t0008g0256	154	290	0.5310	13	c.213 others(32): Show c.213+40608_213+40609insAAAAAAAAAAAAA		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32182278	C C	CTTTCTTT others(6): Show CTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0138 a0001c0002t0005g0138	1	290	0.0035	13	c.214 others(32): Show c.214-33966_214-33965insCTTTTTTTTTTTT		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(6): Show GTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG01106.hp2 others(31): Show HG00438.hp1 HG00642.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01358.hp2 HG01884.hp2 HG01978.hp1 HG02027.hp1 HG02145.hp2 HG02148.hp2 HG02280.hp2 HG02602.hp2 HG02622.hp1 HG02818.hp2 HG03471.hp2 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18989.hp1 NA18994.hp1 NA18999.hp2 NA19002.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0020 a0001c0002t0025 a0001c0003t0002 a0001c0004t0001 a0001c0009t0001	a0001c0001t0001g0049 a0001c0001t0003g0050 a0001c0001t0003g0087 others(31): Show a0001c0001t0001g0049 a0001c0001t0003g0050 a0001c0001t0003g0087 a0001c0001t0003g0225 a0001c0001t0003g0230 a0001c0001t0003g0272 a0001c0001t0003g0284 a0001c0001t0004g0032 a0001c0001t0006g0036 a0001c0001t0006g0162 a0001c0001t0007g0250 a0001c0001t0008g0108 a0001c0001t0008g0119 a0001c0001t0009g0055 a0001c0001t0009g0081 a0001c0001t0009g0183 a0001c0001t0011g0269 a0001c0001t0012g0237 a0001c0001t0015g0020 a0001c0001t0018g0219 a0001c0001t0018g0268 a0001c0002t0001g0066 a0001c0002t0001g0224 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0195 a0001c0002t0002g0212 a0001c0002t0005g0135 a0001c0002t0005g0248 a0001c0002t0020g0214 a0001c0002t0025g0065 a0001c0003t0002g0240 a0001c0004t0001g0196 a0001c0009t0001g0056	34	290	0.1172	13	c.426 others(30): Show c.426+9167_426+9168insGTTTTTTTTTTTT		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(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01261.hp1 others(9): Show HG00280.hp1 HG01069.hp2 HG01261.hp1 HG01943.hp2 HG02027.hp2 NA18947.hp2 NA18960.hp2 NA18980.hp2 NA18988.hp1 NA19010.hp1 NA19063.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0045 a0001c0004t0062	a0001c0001t0001g0276 a0001c0001t0010g0103 a0001c0001t0011g0080 others(9): Show a0001c0001t0001g0276 a0001c0001t0010g0103 a0001c0001t0011g0080 a0001c0002t0001g0077 a0001c0002t0001g0175 a0001c0002t0001g0200 a0001c0002t0001g0210 a0001c0002t0002g0243 a0001c0002t0004g0015 a0001c0002t0005g0001 a0001c0002t0045g0201 a0001c0004t0062g0040	12	290	0.0414	13	c.426 others(30): Show c.426+9170_426+9182dupTTTTTTTTTTTTT		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32243264	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03710.hp1 NA20129.hp1 HG01884.hp2 HG03710.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0001t0017 a0001c0003t0033 a0001c0001t0012 a0001c0001t0017 a0001c0003t0033	a0001c0001t0012g0237 a0001c0001t0017g0094 a0001c0003t0033g0122 a0001c0001t0012g0237 a0001c0001t0017g0094 a0001c0003t0033g0122	3	290	0.0103	13	c.426 others(32): Show c.426+26814_426+26826dupTTTTTTTTTTTTT		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32302546	C C	CATTTCCA others(6): Show CATTTCCATGCCAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0243 a0001c0002t0002g0243	1	290	0.0035	13	c.580 others(30): Show c.580-3150_580-3138dupATTTCCATGCCAT		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384640	T T	TCTTCTTC others(6): Show TCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG02300.hp2 others(11): Show HG01192.hp2 HG01243.hp2 HG02300.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG03139.hp2 HG03516.hp2 NA18612.hp2 NA18948.hp1 NA18966.hp1 NA18981.hp2 NA18994.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0008t0003	a0001c0001t0003g0229 a0001c0001t0003g0246 a0001c0001t0003g0257 others(11): Show a0001c0001t0003g0229 a0001c0001t0003g0246 a0001c0001t0003g0257 a0001c0001t0006g0023 a0001c0001t0006g0152 a0001c0001t0006g0163 a0001c0001t0006g0165 a0001c0001t0007g0107 a0001c0001t0009g0081 a0001c0001t0009g0159 a0001c0002t0001g0233 a0001c0002t0001g0267 a0001c0002t0003g0148 a0001c0008t0003g0206	14	290	0.0483	13	c.70 others(24): Show c.7013_*7014insCTTCTTCTTCTTC		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding					1008		chr12	TogoVar
BICDL1_chr12_119984236_120099494	120033367	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01981.hp1 HG02280.hp2 others(10): Show HG00423.hp1 HG01981.hp1 HG02280.hp2 HG02523.hp1 HG02922.hp1 HG02965.hp1 HG03579.hp1 HG03831.hp2 HG03942.hp2 NA18956.hp1 NA18981.hp1 NA18994.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0003t0009 a0001c0005t0009 a0002c0004t0002	a0001c0001t0002g0184 a0001c0001t0002g0190 a0001c0001t0005g0141 others(10): Show a0001c0001t0002g0184 a0001c0001t0002g0190 a0001c0001t0005g0141 a0001c0001t0005g0170 a0001c0001t0005g0176 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0009g0216 a0001c0001t0015g0214 a0001c0003t0009g0221 a0001c0005t0009g0217 a0001c0005t0009g0220 a0002c0004t0002g0223	13	296	0.0439	13	c.646 others(32): Show c.646-28334_646-28322dupTTTTTTTTTTTTT		BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120045918	A A	ATAATAAT others(6): Show ATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01243.hp2 others(11): Show HG00735.hp2 HG01081.hp2 HG01243.hp2 HG01884.hp1 HG02257.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02922.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0003 a0001c0001t0029	a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0272 others(11): Show a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0029g0284	14	296	0.0473	13	c.646 others(32): Show c.646-15791_646-15779dupTAATAATAATAAT		BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42793122	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19066.hp2 HG02055.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0242 a0001c0001t0001g0034 a0001c0001t0001g0242	2	270	0.0074	13	c.-10 others(34): Show c.-102+11048_-102+11060dupTTTTTTTTTTTTT		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(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02572.hp2 HG02647.hp1 others(1): Show HG02056.hp2 HG02572.hp2 HG02647.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0166 a0001c0001t0001g0197 a0001c0001t0002g0211 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0197 a0001c0001t0002g0211 a0001c0001t0002g0269	4	270	0.0148	13	c.-10 others(34): Show c.-102+11212_-102+11224dupTTTTTTTTTTTTT		BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42857614	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0074 a0001c0001t0009g0107 a0001c0001t0009g0074 a0001c0001t0009g0107	2	270	0.0074	13	c.225 others(30): Show c.2254+379_2254+380insAAAAAAAAAAATA		BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42857614	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0223 a0001c0001t0003g0223	1	270	0.0037	13	c.225 others(30): Show c.2254+379_2254+380insAAAAAAAAATATA		BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47661213	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18977.hp1 HG02145.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0014 a0001c0003t0004g0011 a0001c0001t0001g0014 a0001c0003t0004g0011	2	312	0.0064	13	c.-10 others(32): Show c.-107-9226_-107-9214dupAAAAAAAAAAAAA		BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
BID_chr22_17729138_17779469	17759241	C C	CAAAACAA others(6): Show CAAAACAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(70): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01978.hp1 HG01981.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02148.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp2 HG02886.hp2 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18960.hp2 NA18984.hp2 NA18990.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0003t0004 a0002c0002t0001 a0004c0008t0001	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 others(70): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0298 a0001c0001t0001g0313 a0001c0001t0001g0326 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0002g0024 a0001c0001t0002g0179 a0001c0001t0002g0255 a0001c0001t0003g0094 a0001c0001t0003g0125 a0001c0001t0003g0155 a0001c0001t0005g0215 a0001c0001t0006g0346 a0001c0001t0007g0195 a0001c0001t0010g0104 a0001c0001t0010g0192 a0001c0003t0004g0198 a0001c0003t0004g0315 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0336 a0004c0008t0001g0118	73	362	0.2017	13	c.-58 others(30): Show c.-58-9080_-58-9068dupTTTTTTTTGTTTT		BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5						chr22	TogoVar
BID_chr22_17729138_17779469	17759241	C C	CAAAACAA others(6): Show CAAAACAAAACAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp2 others(29): Show HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01081.hp1 HG01123.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG02040.hp2 HG02071.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03669.hp2 HG03834.hp2 HG03927.hp2 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18957.hp2 NA18971.hp1 NA18978.hp2 NA19009.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0001t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0001g0119 a0001c0001t0001g0159 a0001c0001t0001g0160 others(29): Show a0001c0001t0001g0119 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0341 a0001c0001t0005g0208 a0001c0003t0001g0251	32	362	0.0884	13	c.-58 others(30): Show c.-58-9068_-58-9067insTTTGTTTTGTTTT		BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5						chr22	TogoVar
BID_chr22_17729138_17779469	17759251	A A	AAAAAAAA others(6): Show AAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0345 a0001c0001t0001g0345	1	362	0.0028	13	c.-58 others(30): Show c.-58-9078_-58-9077insGTTTTGTTTTTTT		BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5						chr22	TogoVar
BID_chr22_17729138_17779469	17759253	A A	AAAAAACA others(6): Show AAAAAACAAAAAAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0347 a0001c0001t0012g0347	1	362	0.0028	13	c.-58 others(30): Show c.-58-9080_-58-9079insGTTTTTTGTTTTT		BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5						chr22	TogoVar
BIN1_chr2_127043032_127112154	127100999	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0194	1	344	0.0029	13	c.84+ others(28): Show c.84+5860_84+5861insCCCCCCCCCCCCC		BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18						chr2	TogoVar
BIN2_chr12_51276038_51329174	51320934	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0257 a0005c0008t0001g0257	1	400	0.0025	13	c.81+ others(28): Show c.81+3087_81+3088insGTGTGTGTGTGTG		BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12						chr12	TogoVar
BIN2_chr12_51276038_51329174	51320941	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	400	0.0025	13	c.81+ others(28): Show c.81+3080_81+3081insGTGTGTGTGTGTG		BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12						chr12	TogoVar
BIRC2_chr11_102342214_102383670	102360775	G G	GTTTTTTT others(6): Show GTTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02145.hp2 others(7): Show HG01109.hp2 HG01884.hp1 HG02145.hp2 HG02280.hp1 HG02970.hp1 HG02976.hp2 HG03209.hp1 HG03471.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0285 others(5): Show a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290	10	344	0.0291	13	c.996 others(30): Show c.996-2113_996-2101dupTGTTTTTTTTTTT		BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC3_chr11_102312484_102344403	102336137	T T	TTTTAGTA others(6): Show TTTTAGTAAAAGGA	frameshift_variant frameshift_variant	HIGH	NA18969.hp1 NA18969.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0032 a0005c0010t0032	a0005c0010t0032g0102 a0005c0010t0032g0102	1	384	0.0026	13	c.149 others(22): Show c.1497_1509dupTTTAGTAAAAGGA	p.Asn others(5): Show p.Asn504fs	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding	7/9	4271/6877	1510/1815	504/604		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC6_chr2_32352023_32623878	32354354	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0002 a0009c0029t0002	a0009c0029t0002g0181 a0009c0029t0002g0181	1	274	0.0037	13	c.-28 others(24): Show c.-2808_-2807insAAAAAAAAAAAAA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding					2668		chr2	TogoVar
BIRC6_chr2_32352023_32623878	32358038	T T	TGGGGGTG others(6): Show TGGGGGTGGGGGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG02630.hp2 others(4): Show HG02451.hp2 HG02559.hp2 HG02630.hp2 HG02717.hp2 HG02922.hp2 HG03130.hp1 NA18522.hp2	a0001 a0001	a0001c0007 a0001c0030 a0001c0007 a0001c0030	a0001c0007t0004 a0001c0007t0007 a0001c0030t0004 a0001c0007t0004 a0001c0007t0007 a0001c0030t0004	a0001c0007t0004g0017 a0001c0007t0004g0018 a0001c0007t0004g0019 others(4): Show a0001c0007t0004g0017 a0001c0007t0004g0018 a0001c0007t0004g0019 a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0007t0007g0021 a0001c0030t0004g0016	7	274	0.0256	13	c.325 others(28): Show c.325+556_325+557insGTGGGGGTGGGGG		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32358038	T T	TGGGGGTG others(6): Show TGGGGGTGGGGTTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03209.hp2 HG06807.hp2 others(1): Show HG02622.hp2 HG03209.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0018 a0001c0031 a0001c0007 a0001c0018 a0001c0031	a0001c0007t0006 a0001c0018t0005 a0001c0031t0005 a0001c0007t0006 a0001c0018t0005 a0001c0031t0005	a0001c0007t0006g0185 a0001c0018t0005g0183 a0001c0018t0005g0184 others(1): Show a0001c0007t0006g0185 a0001c0018t0005g0183 a0001c0018t0005g0184 a0001c0031t0005g0182	4	274	0.0146	13	c.325 others(28): Show c.325+556_325+557insGTGGGGTTGGGGG		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32444031	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0002 a0011c0028t0002	a0011c0028t0002g0179 a0011c0028t0002g0179	1	274	0.0037	13	c.433 others(30): Show c.4336+449_4336+461dupTTTTTTTTTTTTT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	20/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0140 a0001c0010t0002g0140	1	274	0.0037	13	c.475 others(32): Show c.4754-2921_4754-2920insATATATATATATT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0002 a0002c0042t0002	a0002c0042t0002g0106 a0002c0042t0002g0106	1	274	0.0037	13	c.475 others(32): Show c.4754-2921_4754-2920insATATTTTTTTTTT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460273	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	274	0.0037	13	c.475 others(32): Show c.4754-2921_4754-2920insATATATATATATA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73						chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461185	T T	TCCCCTCC others(6): Show TCCCCTCCCCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	274	0.0037	13	c.475 others(32): Show c.4754-2000_4754-1999insCTCCCCCCTCCCC		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461185	T T	TCCCCTCC others(6): Show TCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01261.hp1 HG02015.hp2 others(2): Show HG01255.hp1 HG01261.hp1 HG02015.hp2 HG02280.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0023 a0001c0001 a0001c0005 a0001c0023	a0001c0001t0001 a0001c0005t0001 a0001c0023t0001 a0001c0001t0001 a0001c0005t0001 a0001c0023t0001	a0001c0001t0001g0190 a0001c0001t0001g0231 a0001c0001t0001g0254 others(2): Show a0001c0001t0001g0190 a0001c0001t0001g0231 a0001c0001t0001g0254 a0001c0005t0001g0216 a0001c0023t0001g0011	5	274	0.0183	13	c.475 others(32): Show c.4754-1999_4754-1998insCCCCCCCTCCCCT		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(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19091.hp2 HG03486.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0010 a0002c0002t0002 a0002c0002t0010	a0002c0002t0002g0089 a0002c0002t0010g0015 a0002c0002t0002g0089 a0002c0002t0010g0015	2	274	0.0073	13	c.740 others(30): Show c.7409-674_7409-662dupTTTTTTTTTTTTT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC7_chr20_63230905_63245495	63238139	T T	TGCTTCTG others(6): Show TGCTTCTGGCCGGC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	300	0.0033	13	c.449 others(28): Show c.449+138_449+150dupGCTTCTGGCCGGC		BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
BIVM_chr13_102794119_102846533	102796293	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0060 a0001c0002t0013g0060	1	404	0.0025	13	c.-34 others(24): Show c.-3435_-3434insAAAAAAAAAAAAA		BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding					2825		chr13	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18965.hp1 NA18977.hp1 others(1): Show HG03490.hp1 NA18965.hp1 NA18977.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0225 a0001c0001t0003g0249 others(1): Show a0001c0001t0003g0138 a0001c0001t0003g0225 a0001c0001t0003g0249 a0001c0001t0003g0258	4	404	0.0099	13	c.103 others(32): Show c.1035-1133_1035-1121dupTTTTTTTTTTTTT		BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr13	TogoVar
BLM_chr15_90712346_90821166	90784351	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG01891.hp2 HG02109.hp1	a0001 a0001	a0001c0011 a0001c0025 a0001c0011 a0001c0025	a0001c0011t0001 a0001c0025t0001 a0001c0011t0001 a0001c0025t0001	a0001c0011t0001g0013 a0001c0025t0001g0039 a0001c0011t0001g0013 a0001c0025t0001g0039	2	280	0.0071	13	c.266 others(30): Show c.2663-570_2663-569insTTTTTTTTTTTTG		BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	13/21						chr15	TogoVar
BLNK_chr10_96184171_96276569	96194768	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0046 a0003c0013t0046	a0003c0013t0046g0308 a0003c0013t0046g0308	1	322	0.0031	13	c.125 others(32): Show c.1251+2127_1251+2139dupAAAAAAAAAAAAA		BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	16/16						chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100276323	C C	CTCTCCCT others(6): Show CTCTCCCTCTCCCG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG01255.hp2 others(46): Show HG00609.hp1 HG00673.hp1 HG01255.hp2 HG01433.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02559.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp1 HG02897.hp1 HG02970.hp1 HG03209.hp1 HG03490.hp2 HG03491.hp1 HG03579.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19084.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0020	a0001c0001t0001g0034 a0001c0001t0001g0130 a0001c0001t0002g0002 others(26): Show a0001c0001t0001g0034 a0001c0001t0001g0130 a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0009g0014 a0001c0001t0009g0142 a0001c0001t0020g0145	49	378	0.1296	13	c.398 others(28): Show c.398-831_398-830insCGGGAGAGGGAGA		BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4						chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100276328	T T	TCTCTCCC others(6): Show TCTCTCCCGTCTCC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	378	0.0027	13	c.398 others(28): Show c.398-848_398-836dupGGAGACGGGAGAG		BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4						chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100276413	C C	CTCTCCCT others(6): Show CTCTCCCTCTCCCG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	378	0.0027	13	c.398 others(28): Show c.398-933_398-921dupCGGGAGAGGGAGA		BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4						chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100276484	T T	TCTCCCTC others(6): Show TCTCCCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0230 a0002c0002t0003g0230	1	378	0.0027	13	c.398 others(29): Show c.398-1004_398-992dupGAGGGAGAGGGAG		BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4						chr10	TogoVar
BLOC1S3_chr19_45173784_45186800	45184903	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG03710.hp2 others(1): Show HG00639.hp1 HG01074.hp2 HG03710.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0023 a0001c0001t0009 a0001c0001t0010 a0001c0001t0023	a0001c0001t0009g0001 a0001c0001t0010g0001 a0001c0001t0023g0001 a0001c0001t0009g0001 a0001c0001t0010g0001 a0001c0001t0023g0001	4	426	0.0094	13	c.49 others(24): Show c.4998_*4999insAAAAAAAAAAAAA		BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding					3104		chr19	TogoVar
BLOC1S5_chr6_8008567_8069389	8030865	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG01358.hp1 others(21): Show HG00423.hp2 HG00597.hp2 HG01358.hp1 HG01358.hp2 HG02027.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02280.hp1 HG02451.hp2 HG02738.hp2 HG02895.hp2 HG03017.hp1 HG03195.hp2 HG03579.hp2 HG04115.hp2 HG04184.hp1 NA18943.hp1 NA18943.hp2 NA18967.hp1 NA18979.hp1 NA18979.hp2 NA19058.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0050 others(21): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0179 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0007g0193 a0001c0001t0007g0194 a0001c0001t0007g0290	24	364	0.0659	13	c.326 others(30): Show c.326-4441_326-4440insTTTTTTTTTTTTT		BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	3/4						chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8041655	C C	CTTTCTTT others(6): Show CTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00733.hp1 others(28): Show HG00140.hp2 HG00609.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01978.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp2 HG03017.hp2 HG03041.hp1 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG04184.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18979.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0018	a0001c0001t0001g0069 a0001c0001t0002g0022 a0001c0001t0002g0023 others(28): Show a0001c0001t0001g0069 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0066 a0001c0001t0002g0084 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0015g0258 a0001c0001t0018g0147	31	364	0.0852	13	c.196 others(28): Show c.196-388_196-387insAAAAAAAAAGAAA		BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4						chr6	TogoVar

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