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
BHMT2_chr5_79064767_79095069	79087010	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01516.hp2 HG02896.hp1 others(1): Show HG01261.hp1 HG01516.hp2 HG02896.hp1 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0003 a0002c0003t0006 a0001c0002t0001 a0001c0002t0003 a0002c0003t0006	a0001c0002t0001g0214 a0001c0002t0001g0222 a0001c0002t0003g0218 others(1): Show a0001c0002t0001g0214 a0001c0002t0001g0222 a0001c0002t0003g0218 a0002c0003t0006g0209	4	390	0.0103	12	c.101 others(31): Show c.1011-1482_1011-1481insATATATATATAT	BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BHMT2_chr5_79064767_79095069	79087014	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp2 NA21309.hp2 HG02257.hp1 HG02717.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0005 a0001c0002t0001 a0001c0004t0012 a0001c0001t0005 a0001c0002t0001 a0001c0004t0012	a0001c0001t0005g0184 a0001c0002t0001g0113 a0001c0004t0012g0173 a0001c0001t0005g0184 a0001c0002t0001g0113 a0001c0004t0012g0173	3	390	0.0077	12	c.101 others(31): Show c.1011-1462_1011-1451dupTATATATATATA	BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BHMT2_chr5_79064767_79095069	79087014	G G	GTGTGCAT others(5): Show GTGTGCATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03139.hp2 HG02647.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0003c0005t0003 a0001c0001t0003 a0003c0005t0003	a0001c0001t0003g0042 a0003c0005t0003g0042 a0001c0001t0003g0042 a0003c0005t0003g0042	2	390	0.0051	12	c.101 others(31): Show c.1011-1478_1011-1477insGTGCATATATAT	BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BICC1_chr10_58507872_58836435	58601140	T T	TAATATAT others(5): Show TAATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02523.hp1 HG00735.hp2 HG02523.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0020 a0001c0001t0007 a0002c0002t0020	a0001c0001t0007g0096 a0002c0002t0020g0088 a0001c0001t0007g0096 a0002c0002t0020g0088	2	132	0.0152	12	c.191 others(31): Show c.191-19715_191-19714insAATATATATATA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20			chr10	TogoVar
BICC1_chr10_58507872_58836435	58718742	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0048 a0001c0001t0028g0048	1	132	0.0076	12	c.307 others(31): Show c.307+16612_307+16623dupTGTGTGTGTGTG	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58769398	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0098 a0001c0001t0051g0098	1	132	0.0076	12	c.308 others(31): Show c.308-15602_308-15601insATATATATATAT	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(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0019 a0002c0003t0019	a0002c0003t0019g0115 a0002c0003t0019g0116 a0002c0003t0019g0115 a0002c0003t0019g0116	2	132	0.0152	12	c.308 others(31): Show c.308-15600_308-15599insATATATATATAT	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(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02155.hp1 NA18965.hp2 HG02040.hp1 HG02155.hp1 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0029 a0002c0002t0004 a0002c0002t0010 a0001c0001t0029 a0002c0002t0004 a0002c0002t0010	a0001c0001t0029g0032 a0002c0002t0004g0037 a0002c0002t0010g0074 a0001c0001t0029g0032 a0002c0002t0004g0037 a0002c0002t0010g0074	3	132	0.0227	12	c.308 others(31): Show c.308-15598_308-15597insATATATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32116500	C C	CTATATAT others(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0171 a0001c0002t0004g0171	1	290	0.0035	12	c.213 others(29): Show c.213+8957_213+8958insATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32116506	C C	CTATATAT others(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0135 a0001c0002t0005g0135	1	290	0.0035	12	c.213 others(29): Show c.213+8963_213+8964insATATATATATAT	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(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0139 a0001c0001t0007g0139	1	290	0.0035	12	c.213 others(29): Show c.213+8974_213+8985dupATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32116510	C C	CTCTCTCT others(5): Show CTCTCTCTATATA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	290	0.0035	12	c.213 others(29): Show c.213+8967_213+8968insCTCTCTATATAT	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(5): Show TACACAAATACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG02630.hp1 others(8): Show HG01192.hp1 HG01243.hp1 HG02630.hp1 HG02738.hp2 HG03710.hp1 NA18612.hp1 NA18944.hp2 NA18951.hp2 NA18966.hp1 NA19004.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 others(4): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0003t0033	a0001c0001t0004g0130 a0001c0001t0004g0134 a0001c0001t0004g0170 others(8): Show a0001c0001t0004g0130 a0001c0001t0004g0134 a0001c0001t0004g0170 a0001c0001t0008g0129 a0001c0001t0009g0081 a0001c0002t0002g0121 a0001c0002t0002g0131 a0001c0002t0004g0117 a0001c0002t0005g0116 a0001c0002t0005g0248 a0001c0003t0033g0122	11	290	0.0379	12	c.213 others(31): Show c.213+10152_213+10153insCACAAATACACA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32142453	C C	CCTATCTA others(5): Show CCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01346.hp1 HG01358.hp1 others(6): Show HG01069.hp2 HG01346.hp1 HG01358.hp1 HG02109.hp2 HG02738.hp1 HG03225.hp1 HG03492.hp2 HG03540.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0013 a0001c0001t0044 others(4): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0044 a0001c0002t0037 a0001c0003t0013 a0001c0003t0042 a0001c0005t0012	a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0281 others(6): Show a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0013g0279 a0001c0001t0044g0180 a0001c0002t0037g0095 a0001c0003t0013g0277 a0001c0003t0042g0274 a0001c0005t0012g0271	9	290	0.0310	12	c.213 others(31): Show c.213+34934_213+34945dupCTATCTATCTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32142468	A A	ATCTATCT others(5): Show ATCTATCTATCGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0154 a0001c0001t0016g0154	1	290	0.0035	12	c.213 others(31): Show c.213+34934_213+34935insGGTCTATCTATC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32142496	A A	ATCTATCT others(5): Show ATCTATCTATTGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	290	0.0035	12	c.213 others(31): Show c.213+34960_213+34961insTTGGTCTATCTA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32146809	T T	TCCTCCCT others(5): Show TCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01167.hp2 HG01169.hp2 others(11): Show HG01069.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG02717.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA18971.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0276 a0001c0001t0004g0166 a0001c0001t0006g0153 others(11): Show a0001c0001t0001g0276 a0001c0001t0004g0166 a0001c0001t0006g0153 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0009g0159 a0001c0002t0001g0283 a0001c0002t0005g0141	14	290	0.0483	12	c.213 others(31): Show c.213+39281_213+39292dupCCCTCCCTCCCT	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(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01943.hp1 HG02004.hp1 others(19): Show HG00438.hp2 HG01943.hp1 HG02004.hp1 HG02071.hp1 HG02132.hp1 HG02148.hp2 HG02735.hp1 HG03139.hp1 HG03688.hp2 HG03710.hp2 HG04115.hp1 NA18944.hp1 NA18946.hp1 NA18966.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18986.hp1 NA18994.hp1 NA19002.hp2 NA19063.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 others(9): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0024 a0001c0001t0043 a0001c0001t0047 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0020 a0001c0002t0027	a0001c0001t0003g0177 a0001c0001t0003g0213 a0001c0001t0003g0216 others(19): Show a0001c0001t0003g0177 a0001c0001t0003g0213 a0001c0001t0003g0216 a0001c0001t0003g0234 a0001c0001t0003g0239 a0001c0001t0009g0081 a0001c0001t0009g0084 a0001c0001t0011g0269 a0001c0001t0012g0211 a0001c0001t0024g0260 a0001c0001t0043g0236 a0001c0001t0047g0247 a0001c0001t0048g0218 a0001c0002t0001g0082 a0001c0002t0001g0210 a0001c0002t0001g0233 a0001c0002t0002g0064 a0001c0002t0002g0083 a0001c0002t0002g0088 a0001c0002t0002g0212 a0001c0002t0020g0214 a0001c0002t0027g0120	22	290	0.0759	12	c.213 others(31): Show c.213+40608_213+40609insAAAAAAAAAAAA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32168007	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG02738.hp2 others(6): Show HG00639.hp1 HG01109.hp2 HG02738.hp2 HG03491.hp1 NA18944.hp2 NA18983.hp1 NA19007.hp2 NA19080.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0005 a0001c0002t0021	a0001c0001t0001g0258 a0001c0001t0004g0130 a0001c0001t0004g0132 others(6): Show a0001c0001t0001g0258 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0008g0137 a0001c0002t0005g0248 a0001c0002t0005g0252 a0001c0002t0021g0249	9	290	0.0310	12	c.214 others(31): Show c.214-48221_214-48210dupGTGTGTGTGTGT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32171988	C C	CACACACA others(5): Show CACACACATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0140 a0001c0001t0008g0140	1	290	0.0035	12	c.214 others(31): Show c.214-44257_214-44256insACACATATATAC	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(5): Show CTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0284 a0001c0001t0003g0284	1	290	0.0035	12	c.214 others(31): Show c.214-33966_214-33965insCTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32192430	T T	TTAAATAA others(5): Show TTAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	290	0.0035	12	c.214 others(31): Show c.214-23802_214-23791dupAATAAATAAATA	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(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(45): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG01243.hp2 HG01346.hp2 HG01496.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp2 HG02129.hp1 HG02145.hp2 HG02523.hp1 HG02735.hp2 HG03017.hp1 HG03209.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp2 NA18612.hp1 NA18906.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18966.hp2 NA18968.hp2 NA18982.hp1 NA18986.hp2 NA18988.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19090.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0032 a0001c0001t0049 a0001c0001t0061 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0020 a0001c0002t0025 a0001c0002t0041 a0001c0004t0014 a0001c0004t0062 a0001c0006t0001 a0001c0008t0003 a0001c0009t0001 a0002c0010t0008	a0001c0001t0001g0089 a0001c0001t0001g0194 a0001c0001t0001g0289 others(45): Show a0001c0001t0001g0089 a0001c0001t0001g0194 a0001c0001t0001g0289 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0198 a0001c0001t0003g0232 a0001c0001t0003g0257 a0001c0001t0003g0272 a0001c0001t0004g0136 a0001c0001t0004g0170 a0001c0001t0006g0036 a0001c0001t0007g0139 a0001c0001t0007g0167 a0001c0001t0008g0119 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0060 a0001c0001t0009g0068 a0001c0001t0009g0070 a0001c0001t0011g0044 a0001c0001t0011g0080 a0001c0001t0013g0279 a0001c0001t0015g0020 a0001c0001t0016g0037 a0001c0001t0032g0033 a0001c0001t0049g0242 a0001c0001t0061g0226 a0001c0002t0001g0077 a0001c0002t0001g0175 a0001c0002t0001g0200 a0001c0002t0001g0220 a0001c0002t0001g0224 a0001c0002t0001g0231 a0001c0002t0002g0048 a0001c0002t0002g0053 a0001c0002t0002g0192 a0001c0002t0002g0263 a0001c0002t0005g0012 a0001c0002t0020g0052 a0001c0002t0025g0065 a0001c0002t0041g0176 a0001c0004t0014g0004 a0001c0004t0062g0040 a0001c0006t0001g0058 a0001c0008t0003g0206 a0001c0009t0001g0056 a0002c0010t0008g0256	48	290	0.1655	12	c.214 others(31): Show c.214-17922_214-17921insATATATATATAT	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(5): Show GTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(108): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01346.hp2 HG01496.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp2 HG03225.hp2 HG03491.hp2 HG03540.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(33): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0036 a0001c0001t0043 a0001c0001t0048 a0001c0001t0058 a0001c0001t0061 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0021 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0029 a0001c0002t0041 a0001c0005t0012 a0001c0007t0050 a0001c0008t0003	a0001c0001t0001g0038 a0001c0001t0001g0089 a0001c0001t0001g0174 others(108): Show a0001c0001t0001g0038 a0001c0001t0001g0089 a0001c0001t0001g0174 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0258 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0003g0085 a0001c0001t0003g0147 a0001c0001t0003g0187 a0001c0001t0003g0198 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0213 a0001c0001t0003g0216 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0239 a0001c0001t0003g0257 a0001c0001t0003g0261 a0001c0001t0003g0273 a0001c0001t0004g0114 a0001c0001t0004g0130 a0001c0001t0004g0136 a0001c0001t0004g0166 a0001c0001t0004g0170 a0001c0001t0006g0021 a0001c0001t0006g0035 a0001c0001t0006g0105 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0164 a0001c0001t0007g0005 a0001c0001t0007g0146 a0001c0001t0007g0251 a0001c0001t0008g0144 a0001c0001t0009g0054 a0001c0001t0009g0060 a0001c0001t0009g0070 a0001c0001t0009g0084 a0001c0001t0010g0003 a0001c0001t0010g0143 a0001c0001t0010g0158 a0001c0001t0010g0161 a0001c0001t0011g0235 a0001c0001t0011g0254 a0001c0001t0011g0259 a0001c0001t0012g0211 a0001c0001t0012g0265 a0001c0001t0013g0279 a0001c0001t0016g0037 a0001c0001t0017g0092 a0001c0001t0017g0094 a0001c0001t0018g0227 a0001c0001t0020g0217 a0001c0001t0036g0090 a0001c0001t0043g0236 a0001c0001t0048g0218 a0001c0001t0058g0221 a0001c0001t0061g0226 a0001c0002t0001g0069 a0001c0002t0001g0178 a0001c0002t0001g0267 a0001c0002t0002g0048 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0088 a0001c0002t0002g0215 a0001c0002t0002g0228 a0001c0002t0002g0253 a0001c0002t0002g0282 a0001c0002t0003g0238 a0001c0002t0004g0009 a0001c0002t0004g0016 a0001c0002t0004g0106 a0001c0002t0004g0117 a0001c0002t0005g0008 a0001c0002t0005g0012 a0001c0002t0005g0104 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0005g0112 a0001c0002t0005g0116 a0001c0002t0005g0118 a0001c0002t0005g0126 a0001c0002t0005g0127 a0001c0002t0005g0141 a0001c0002t0005g0252 a0001c0002t0005g0290 a0001c0002t0007g0022 a0001c0002t0007g0150 a0001c0002t0008g0115 a0001c0002t0021g0169 a0001c0002t0021g0249 a0001c0002t0025g0078 a0001c0002t0026g0013 a0001c0002t0027g0120 a0001c0002t0029g0109 a0001c0002t0041g0176 a0001c0005t0012g0271 a0001c0007t0050g0186 a0001c0008t0003g0206	111	290	0.3828	12	c.426 others(29): Show c.426+9167_426+9168insGTTTTTTTTTTT	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(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02040.hp1 HG02080.hp1 others(9): Show HG01358.hp1 HG02040.hp1 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02523.hp1 HG02523.hp2 HG02683.hp1 NA18961.hp1 NA18969.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008	a0001c0001t0001g0202 a0001c0001t0001g0278 a0001c0001t0008g0125 others(9): Show a0001c0001t0001g0202 a0001c0001t0001g0278 a0001c0001t0008g0125 a0001c0002t0001g0179 a0001c0002t0001g0190 a0001c0002t0001g0233 a0001c0002t0002g0046 a0001c0002t0002g0263 a0001c0002t0004g0002 a0001c0002t0004g0007 a0001c0002t0005g0011 a0001c0002t0008g0145	12	290	0.0414	12	c.426 others(29): Show c.426+9171_426+9182dupTTTTTTTTTTTT	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(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02922.hp2 HG03834.hp1 HG00741.hp2 HG02922.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0010 a0001c0003t0013 a0001c0001t0006 a0001c0001t0010 a0001c0003t0013	a0001c0001t0006g0021 a0001c0001t0010g0158 a0001c0003t0013g0051 a0001c0001t0006g0021 a0001c0001t0010g0158 a0001c0003t0013g0051	3	290	0.0103	12	c.426 others(31): Show c.426+26815_426+26826dupTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32288223	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG03486.hp1 others(1): Show HG02055.hp2 HG02486.hp1 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0049 a0001c0002t0002 a0001c0002t0005 others(1): Show a0001c0001t0049 a0001c0002t0002 a0001c0002t0005 a0001c0002t0040	a0001c0001t0049g0242 a0001c0002t0002g0172 a0001c0002t0005g0151 others(1): Show a0001c0001t0049g0242 a0001c0002t0002g0172 a0001c0002t0005g0151 a0001c0002t0040g0091	4	290	0.0138	12	c.427 others(29): Show c.427-5758_427-5747dupTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32297805	A A	ATTTATTC others(5): Show ATTTATTCATTTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00609.hp2 others(86): Show HG00280.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18950.hp1 NA18966.hp1 NA18975.hp1 NA19002.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19080.hp2 NA19083.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(36): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0030 a0001c0001t0036 a0001c0001t0038 a0001c0001t0043 a0001c0001t0049 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0037 a0001c0002t0046 a0001c0003t0002 a0001c0003t0013 a0001c0003t0033 a0001c0003t0042 a0001c0003t0052 a0001c0003t0053 a0001c0003t0054 a0001c0005t0009 a0001c0005t0012 a0001c0007t0050 a0001c0009t0001	a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0193 others(86): Show a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0258 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0003g0147 a0001c0001t0003g0205 a0001c0001t0003g0230 a0001c0001t0004g0032 a0001c0001t0004g0114 a0001c0001t0004g0130 a0001c0001t0004g0136 a0001c0001t0004g0287 a0001c0001t0006g0021 a0001c0001t0006g0023 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0105 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0008g0119 a0001c0001t0008g0123 a0001c0001t0009g0081 a0001c0001t0009g0084 a0001c0001t0009g0086 a0001c0001t0009g0159 a0001c0001t0009g0183 a0001c0001t0009g0288 a0001c0001t0010g0003 a0001c0001t0010g0014 a0001c0001t0010g0018 a0001c0001t0010g0133 a0001c0001t0010g0143 a0001c0001t0010g0158 a0001c0001t0010g0161 a0001c0001t0011g0057 a0001c0001t0011g0235 a0001c0001t0012g0211 a0001c0001t0012g0237 a0001c0001t0012g0265 a0001c0001t0013g0279 a0001c0001t0015g0020 a0001c0001t0017g0092 a0001c0001t0017g0093 a0001c0001t0018g0268 a0001c0001t0020g0217 a0001c0001t0024g0209 a0001c0001t0030g0029 a0001c0001t0036g0090 a0001c0001t0038g0098 a0001c0001t0043g0236 a0001c0001t0049g0242 a0001c0001t0058g0221 a0001c0001t0060g0244 a0001c0001t0061g0226 a0001c0002t0002g0076 a0001c0002t0003g0148 a0001c0002t0003g0168 a0001c0002t0005g0104 a0001c0002t0005g0135 a0001c0002t0005g0290 a0001c0002t0037g0095 a0001c0002t0046g0262 a0001c0003t0002g0240 a0001c0003t0013g0051 a0001c0003t0013g0189 a0001c0003t0013g0277 a0001c0003t0033g0122 a0001c0003t0042g0274 a0001c0003t0052g0286 a0001c0003t0053g0285 a0001c0003t0054g0079 a0001c0005t0009g0270 a0001c0005t0012g0271 a0001c0007t0050g0186 a0001c0009t0001g0056	89	290	0.3069	12	c.579 others(29): Show c.579+3663_579+3664insTTCATTTGTTTA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32324566	C C	CTTTTCTT others(5): Show CTTTTCTTTTTCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18947.hp2 NA18982.hp1 HG02027.hp1 NA18947.hp2 NA18982.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0014 a0001c0004t0062 a0001c0004t0001 a0001c0004t0014 a0001c0004t0062	a0001c0004t0001g0196 a0001c0004t0014g0004 a0001c0004t0062g0040 a0001c0004t0001g0196 a0001c0004t0014g0004 a0001c0004t0062g0040	3	290	0.0103	12	c.100 others(31): Show c.1006-2885_1006-2874dupTCTTTTTCTTTT	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(5): Show ATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0240 a0001c0003t0002g0240	1	290	0.0035	12	c.276 others(31): Show c.2764+3156_2764+3157insGTGTGTATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32342166	G G	GTGTGTAT others(5): Show GTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03834.hp1 HG03710.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0033 a0001c0003t0013 a0001c0003t0033	a0001c0003t0013g0051 a0001c0003t0033g0122 a0001c0003t0013g0051 a0001c0003t0033g0122	2	290	0.0069	12	c.276 others(31): Show c.2764+3188_2764+3189insGTGTATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346568	A A	ATATATAC others(5): Show ATATATACGTGTG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0136	1	290	0.0035	12	c.276 others(31): Show c.2764+7595_2764+7596insCGTGTGTATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346570	A A	ATATATAC others(5): Show ATATATACGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA20805.hp1 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0281 a0001c0001t0001g0255 a0001c0001t0001g0281	2	290	0.0069	12	c.276 others(31): Show c.2764+7597_2764+7598insCGTGTGTATATA	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(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02683.hp1 HG02683.hp2 others(3): Show HG01496.hp2 HG02683.hp1 HG02683.hp2 NA18969.hp2 NA18989.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004	a0001c0001t0003g0198 a0001c0002t0001g0066 a0001c0002t0001g0178 others(3): Show a0001c0001t0003g0198 a0001c0002t0001g0066 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0004g0007 a0001c0002t0004g0117	6	290	0.0207	12	c.276 others(31): Show c.2764+9789_2764+9800dupATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384586	C C	CCTTCTTC others(5): Show CCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG03710.hp1 HG03834.hp1 HG01346.hp1 HG03710.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0033 a0001c0003t0042 a0001c0003t0013 a0001c0003t0033 a0001c0003t0042	a0001c0003t0013g0051 a0001c0003t0033g0122 a0001c0003t0042g0274 a0001c0003t0013g0051 a0001c0003t0033g0122 a0001c0003t0042g0274	3	290	0.0103	12	c.69 others(23): Show c.6959_*6960insCTTCTTCTTCTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		954		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCCT others(5): Show GTCTTCCTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02922.hp2 others(2): Show HG01884.hp2 HG02451.hp1 HG02922.hp2 NA19010.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0010 a0001c0001t0012	a0001c0001t0010g0014 a0001c0001t0010g0158 a0001c0001t0010g0161 others(2): Show a0001c0001t0010g0014 a0001c0001t0010g0158 a0001c0001t0010g0161 a0001c0001t0012g0211 a0001c0001t0012g0237	5	290	0.0172	12	c.69 others(23): Show c.6961_*6962insTCTTCCTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(5): Show GTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01943.hp2 HG02300.hp1 others(9): Show HG00597.hp2 HG01943.hp2 HG02300.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG06807.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0018 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0018 a0001c0001t0022 a0001c0001t0044 a0001c0002t0001 a0001c0002t0005 a0001c0007t0050	a0001c0001t0001g0038 a0001c0001t0001g0181 a0001c0001t0001g0182 others(9): Show a0001c0001t0001g0038 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0008g0125 a0001c0001t0018g0219 a0001c0001t0022g0102 a0001c0001t0044g0180 a0001c0002t0001g0175 a0001c0002t0005g0012 a0001c0007t0050g0186	12	290	0.0414	12	c.69 others(23): Show c.6961_*6962insTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32386203	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG03486.hp1 others(1): Show HG02055.hp2 HG02486.hp1 HG03486.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0040 a0001c0002t0002 a0001c0002t0005 a0001c0002t0040	a0001c0002t0002g0172 a0001c0002t0005g0151 a0001c0002t0005g0252 others(1): Show a0001c0002t0002g0172 a0001c0002t0005g0151 a0001c0002t0005g0252 a0001c0002t0040g0091	4	290	0.0138	12	c.85 others(23): Show c.8576_*8577insTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		2571		chr12	TogoVar
BICDL1_chr12_119984236_120099494	119989462	G G	GGCAGCAG others(5): Show GGCAGCAGCAGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp1 HG02015.hp1 HG02523.hp1 others(11): Show HG00423.hp1 HG02015.hp1 HG02523.hp1 NA18949.hp2 NA18956.hp1 NA18961.hp2 NA18978.hp2 NA18981.hp1 NA18984.hp1 NA18994.hp2 NA19058.hp1 NA19068.hp2 NA19072.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0019 a0001c0001t0005 a0001c0001t0019	a0001c0001t0005g0141 a0001c0001t0005g0170 a0001c0001t0005g0173 others(11): Show a0001c0001t0005g0141 a0001c0001t0005g0170 a0001c0001t0005g0173 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0019g0179	14	296	0.0473	12	c.-40 others(21): Show c.-401_-390dupAGCAGCAGCAGC	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/10	389	INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120013439	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03139.hp2 HG03471.hp1 others(6): Show HG02109.hp1 HG03139.hp2 HG03471.hp1 HG03704.hp1 NA18939.hp1 NA18956.hp1 NA18957.hp2 NA19010.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0020	a0001c0001t0001g0126 a0001c0001t0002g0151 a0001c0001t0002g0183 others(6): Show a0001c0001t0001g0126 a0001c0001t0002g0151 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0204 a0001c0001t0002g0222 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0020g0175	9	296	0.0304	12	c.645 others(31): Show c.645+14736_645+14747dupGTGTGTGTGTGT	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(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG01106.hp1 others(38): Show HG00323.hp1 HG00558.hp1 HG01106.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02630.hp1 HG02683.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03927.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18945.hp2 NA18950.hp1 NA18952.hp2 NA18961.hp2 NA18973.hp2 NA18984.hp1 NA18987.hp1 NA19011.hp2 NA19054.hp1 NA19058.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19077.hp2 NA19087.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0002c0004t0002	a0001c0001t0001g0287 a0001c0001t0002g0133 a0001c0001t0002g0139 others(38): Show a0001c0001t0001g0287 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0172 a0001c0001t0002g0180 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0210 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0003g0275 a0001c0001t0005g0173 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0007g0136 a0001c0001t0007g0146 a0001c0001t0007g0156 a0001c0001t0007g0165 a0001c0001t0007g0167 a0001c0001t0010g0134 a0001c0001t0010g0211 a0001c0001t0012g0178 a0001c0001t0015g0213 a0001c0001t0019g0179 a0001c0001t0020g0175 a0002c0004t0002g0200	41	296	0.1385	12	c.646 others(31): Show c.646-28333_646-28322dupTTTTTTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120045917	T T	TATAATAA others(5): Show TATAATAATAATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02135.hp2 HG02451.hp2 others(3): Show HG01928.hp1 HG02135.hp2 HG02451.hp2 HG02818.hp1 HG02970.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0132 a0001c0001t0002g0168 a0001c0001t0002g0193 others(3): Show a0001c0001t0002g0132 a0001c0001t0002g0168 a0001c0001t0002g0193 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0007g0136	6	296	0.0203	12	c.646 others(31): Show c.646-15785_646-15774dupTAATAATAATAA	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(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0286 a0001c0001t0026g0286	1	296	0.0034	12	c.646 others(29): Show c.646-3873_646-3862dupTTTTTTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120083629	G G	GTATTTAT others(5): Show GTATTTATTTATT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	296	0.0034	12	c.158 others(31): Show c.1583+2649_1583+2660dupTATTTATTTATT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL2_chr16_3022682_3041944	3034658	C C	CTCCTTCC others(5): Show CTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01943.hp2 HG01993.hp1 others(8): Show HG01515.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02965.hp2 HG03490.hp1 NA18906.hp2 NA18998.hp2 NA19011.hp2 NA19068.hp2 NA21309.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0009c0017 a0003c0003 a0009c0017	a0003c0003t0003 a0009c0017t0003 a0003c0003t0003 a0009c0017t0003	a0003c0003t0003g0011 a0003c0003t0003g0041 a0003c0003t0003g0108 others(2): Show a0003c0003t0003g0011 a0003c0003t0003g0041 a0003c0003t0003g0108 a0003c0003t0003g0113 a0009c0017t0003g0080	11	390	0.0282	12	c.282 others(27): Show c.282+545_282+556dupAGGAAGGAAGGA	BICDL2	ENSG00000162069.16	transcript	ENST00000572449.6	protein_coding	2/9			chr16	TogoVar
BICRAL_chr6_42777052_42873556	42793296	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03491.hp2 HG00741.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0169 a0001c0001t0005g0143 a0001c0001t0003g0169 a0001c0001t0005g0143	2	270	0.0074	12	c.-10 others(33): Show c.-102+11213_-102+11224dupTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42793969	C C	CATTTTTA others(5): Show CATTTTTATTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0026 a0001c0005t0026g0026	1	270	0.0037	12	c.-10 others(33): Show c.-102+11900_-102+11911dupTTTTTATTTTTA	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(5): Show GTGTATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0065 a0001c0001t0005g0065	1	270	0.0037	12	c.-6+ others(27): Show c.-6+4099_-6+4100insGTATATATATAT	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(5): Show GTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0010 a0001c0001t0028g0010	1	270	0.0037	12	c.-6+ others(27): Show c.-6+4099_-6+4100insGTGTATATATAT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42814519	A A	ATATATAT others(5): Show ATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03831.hp2 HG00642.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0229 a0001c0001t0002g0066 a0001c0001t0001g0229 a0001c0001t0002g0066	2	270	0.0074	12	c.-6+ others(27): Show c.-6+4119_-6+4120insATATATATTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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