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
BCL7A_chr12_122016884_122067044	122023525	A A	AAAGTCCA others(15): Show AAAGTCCACGTGCTCCCCGGCGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0329 a0001c0002t0024g0329	1	362	0.0028	22	c.92+ others(37): Show c.92+1362_92+1363insGGAAGTCCACGTGCTCCCCGGC	BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
BCL7A_chr12_122016884_122067044	122038431	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0176 a0001c0002t0032g0176	1	362	0.0028	22	c.271 others(39): Show c.271+3011_271+3032dupAAAAAAAAAAAAAAAAAAAAAA	BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
BCLAF1_chr6_136251627_136294846	136284128	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	310	0.0032	22	c.-11 others(41): Show c.-114-1442_-114-1441insTATATATATATATATATATATA	BCLAF1	ENSG00000029363.17	transcript	ENST00000531224.6	protein_coding	1/12			chr6	TogoVar
BCO1_chr16_81233689_81296142	81235188	A A	ATATATAT others(15): Show ATATATATAAATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0162 a0001c0007t0001g0162	1	402	0.0025	22	c.-37 others(33): Show c.-3721_-3720insTATATATAAATATATATATATG	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3500		chr16	TogoVar
BCO1_chr16_81233689_81296142	81251872	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0031 a0001c0005t0001g0031	1	402	0.0025	22	c.193 others(39): Show c.193+6270_193+6271insGTGTGTGTGTGTGTGTGTGTGT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCOR_chrX_40046251_40102958	40046580	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	257	0.0039	22	c.55 others(33): Show c.5528_*5529insCATATATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4670		chrX	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGGGGGTG others(15): Show GGGGGGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0179 a0001c0001t0179	a0001c0001t0179g0204 a0001c0001t0179g0204	1	319	0.0031	22	c.12 others(33): Show c.1295_*1296insACACACACACACACACACCCCC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG00673.hp1 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0171 a0001c0001t0194 a0001c0001t0171 a0001c0001t0194	a0001c0001t0171g0199 a0001c0001t0194g0205 a0001c0001t0171g0199 a0001c0001t0194g0205	2	319	0.0063	22	c.12 others(33): Show c.1274_*1295dupACACACACACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197531432	T T	TATATGTG others(15): Show TATATGTGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0016 a0001c0002t0051g0016	1	319	0.0031	22	c.267 others(37): Show c.267+958_267+979dupGTATATATATATATACACATAT	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	5/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197549975	T T	TTATTTTT others(15): Show TTATTTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0034 a0001c0001t0028g0034	1	319	0.0031	22	c.-43 others(39): Show c.-43-3490_-43-3489insTATATATATATATATAAAAATA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	2/7			chr3	TogoVar
BEST3_chr12_69648609_69704303	69680310	C C	CTTCTTTT others(15): Show CTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02300.hp2 HG02683.hp2 HG00280.hp1 HG02300.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0300 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0001g0300 a0001c0001t0002g0303 a0001c0001t0002g0304	3	366	0.0082	22	c.482 others(39): Show c.482-1418_482-1417insAAAAAAAAAAAAAAAAAAAGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BFSP1_chr20_17488905_17536379	17491404	G G	GCCCTGCA others(15): Show GCCCTGCATGGATGCTGTCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01081.hp2 HG01123.hp1 others(26): Show HG01069.hp1 HG01081.hp2 HG01123.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01516.hp1 HG01517.hp1 HG02145.hp1 HG02257.hp1 HG02559.hp2 HG02572.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03654.hp1 HG03834.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0001c0004 a0001c0005 others(2): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0006c0021	a0001c0003t0002 a0001c0004t0002 a0001c0005t0004 others(2): Show a0001c0003t0002 a0001c0004t0002 a0001c0005t0004 a0001c0006t0002 a0006c0021t0004	a0001c0003t0002g0137 a0001c0004t0002g0130 a0001c0004t0002g0156 others(22): Show a0001c0003t0002g0137 a0001c0004t0002g0130 a0001c0004t0002g0156 a0001c0004t0002g0217 a0001c0004t0002g0218 a0001c0005t0004g0002 a0001c0005t0004g0116 a0001c0005t0004g0136 a0001c0005t0004g0279 a0001c0005t0004g0281 a0001c0005t0004g0291 a0001c0005t0004g0292 a0001c0005t0004g0293 a0001c0005t0004g0294 a0001c0005t0004g0296 a0001c0005t0004g0298 a0001c0005t0004g0299 a0001c0005t0004g0310 a0001c0006t0002g0009 a0001c0006t0002g0010 a0001c0006t0002g0028 a0001c0006t0002g0135 a0001c0006t0002g0140 a0001c0006t0002g0239 a0006c0021t0004g0022	29	396	0.0732	22	c.26 others(33): Show c.2669_*2670insTCCCGACAGCATCCATGCAGGG	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding		2500		chr20	TogoVar
BFSP1_chr20_17488905_17536379	17501518	T T	TGCACCCC others(15): Show TGCACCCCAGACTGGGTGACAGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0344 a0002c0001t0002g0344	1	396	0.0025	22	c.736 others(39): Show c.736-2500_736-2479dupTCTGTCACCCAGTCTGGGGTGC	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	5/7			chr20	TogoVar
BFSP1_chr20_17488905_17536379	17529090	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG02615.hp2 HG02630.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0016 a0005c0009t0001g0017 a0005c0009t0001g0016 a0005c0009t0001g0017	2	396	0.0051	22	c.377 others(39): Show c.377+1862_377+1863insTCTCACACACACACACACACAC	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	1/7			chr20	TogoVar
BFSP1_chr20_17488905_17536379	17529090	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp2 HG02280.hp1 HG03130.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0007 a0001c0004 a0003c0007	a0001c0004t0002 a0003c0007t0002 a0001c0004t0002 a0003c0007t0002	a0001c0004t0002g0307 a0003c0007t0002g0308 a0001c0004t0002g0307 a0003c0007t0002g0308	2	396	0.0051	22	c.377 others(39): Show c.377+1862_377+1863insTCACACACACACACACACACAC	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	1/7			chr20	TogoVar
BFSP2_chr3_133395056_133480208	133422765	C C	CTGCCAGA others(15): Show CTGCCAGAATATAGCCCAGGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(224): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0002c0003 a0002c0007 a0003c0010 a0004c0005 a0005c0006 a0006c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0008t0001 a0002c0003t0001 a0002c0007t0001 a0003c0010t0001 a0004c0005t0001 a0005c0006t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(219): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0002t0001g0016 a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0132 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0158 a0001c0002t0001g0166 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0001g0243 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0266 a0001c0002t0002g0214 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0008t0001g0125 a0002c0003t0001g0003 a0002c0003t0001g0145 a0002c0003t0001g0154 a0002c0003t0001g0252 a0002c0007t0001g0236 a0003c0010t0001g0156 a0004c0005t0001g0092 a0005c0006t0001g0264 a0006c0009t0001g0167	227	276	0.8225	22	c.489 others(41): Show c.489+22199_489+22220dupGAATATAGCCCAGGTGTTGCCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133422784	G G	GTGTTGCC others(15): Show GTGTTGCCAGAATATAGCCCAGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	276	0.0036	22	c.489 others(41): Show c.489+22220_489+22221insGAATATAGCCCAGTTGTTGCCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BHMT2_chr5_79064767_79095069	79089317	G G	GGCGGGTG others(15): Show GGCGGGTGCCTGTAATCCCAGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0001 a0001c0002t0016g0001	1	390	0.0026	22	c.74 others(31): Show c.744_*765dupGCGGGTGCCTGTAATCCCAGCT	BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	8/8	766	INFO_REALIGN_3_PRIME	chr5	TogoVar
BICC1_chr10_58507872_58836435	58601140	T T	TAATATAT others(15): Show TAATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01517.hp2 HG04115.hp1 others(1): Show HG01167.hp2 HG01517.hp2 HG04115.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0028 a0002c0002t0011 a0001c0001t0001 a0001c0001t0028 a0002c0002t0011	a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0028g0048 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0028g0048 a0002c0002t0011g0091	4	132	0.0303	22	c.191 others(41): Show c.191-19715_191-19714insAATATATATATATATATATATA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20			chr10	TogoVar
BICC1_chr10_58507872_58836435	58769400	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0091 a0002c0002t0011g0091	1	132	0.0076	22	c.308 others(41): Show c.308-15600_308-15599insATATATATATATATATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32117705	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0138 a0001c0002t0005g0138	1	290	0.0035	22	c.213 others(41): Show c.213+10162_213+10163insCACACACACACACACACACACA	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(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	290	0.0035	22	c.214 others(41): Show c.214-17922_214-17921insATATATATATATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346560	A A	ATATATAT others(15): Show ATATATATATATATATACGTGTG	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18612.hp1 HG04115.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0006t0001 a0001c0001t0004 a0001c0006t0001	a0001c0001t0004g0170 a0001c0006t0001g0058 a0001c0001t0004g0170 a0001c0006t0001g0058	2	290	0.0069	22	c.276 others(41): Show c.2764+7597_2764+7598insCGTGTGTATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346590	A A	ATATATAT others(15): Show ATATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03540.hp1 HG01891.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0149 a0001c0001t0013g0279 a0001c0001t0004g0149 a0001c0001t0013g0279	2	290	0.0069	22	c.276 others(41): Show c.2764+7629_2764+7630insCGTGTATATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384640	T T	TCTTCTTC others(15): Show TCTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01167.hp2 HG01169.hp2 others(1): Show HG00741.hp2 HG01167.hp2 HG01169.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0021 a0001c0001t0006g0153 a0001c0001t0006g0156 others(1): Show a0001c0001t0006g0021 a0001c0001t0006g0153 a0001c0001t0006g0156 a0001c0001t0009g0060	4	290	0.0138	22	c.70 others(33): Show c.7013_*7014insCTTCTTCTTCTTCTTCTTCTTC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		1008		chr12	TogoVar
BICDL1_chr12_119984236_120099494	120013439	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0176 a0001c0001t0005g0176	1	296	0.0034	22	c.645 others(41): Show c.645+14726_645+14747dupGTGTGTGTGTGTGTGTGTGTGT	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(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	296	0.0034	22	c.646 others(41): Show c.646-28322_646-28321insTTTTTTTTTTTTTTTTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42783233	T T	TCCGCGGC others(15): Show TCCGCGGCCGCGTCCGGCCGAGC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	270	0.0037	22	c.-10 others(41): Show c.-102+1135_-102+1156dupGCGGCCGCGTCCGGCCGAGCCC	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(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18939.hp1 HG02132.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0041 a0001c0001t0001g0053	2	270	0.0074	22	c.-6+ others(37): Show c.-6+4099_-6+4100insGTATATATATATATATATATAT	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(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	270	0.0037	22	c.-6+ others(37): Show c.-6+4099_-6+4100insGTGTATATATATATATATATAT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42814499	G G	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	270	0.0037	22	c.-6+ others(37): Show c.-6+4099_-6+4100insGTGTGTGTATATATATATATAT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47685786	T T	TGCGCGCG others(15): Show TGCGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0001 a0011c0025t0001	a0011c0025t0001g0066 a0011c0025t0001g0066	1	312	0.0032	22	c.228 others(41): Show c.2283+3648_2283+3649insGCGCGCGCGCGCGCGCGCGCGC	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(15): Show TGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG02155.hp1 HG01070.hp1 HG01074.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0229 a0001c0001t0001g0246 a0001c0001t0001g0065 a0001c0001t0001g0229 a0001c0001t0001g0246	3	312	0.0096	22	c.228 others(41): Show c.2283+3635_2283+3636insTGTGTGCGCGCGCGCGCGCGCG	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(15): Show TGTGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18962.hp2 NA19000.hp1 others(1): Show HG00544.hp1 NA18962.hp2 NA19000.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0001 a0001c0021t0001 a0001c0001t0001 a0001c0021t0001	a0001c0001t0001g0196 a0001c0001t0001g0284 a0001c0001t0001g0285 others(1): Show a0001c0001t0001g0196 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0021t0001g0213	4	312	0.0128	22	c.228 others(41): Show c.2283+3635_2283+3636insTGTGTGTGCGCGCGCGCGCGCG	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(15): Show TGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0006 a0001c0017t0006	a0001c0017t0006g0308 a0001c0017t0006g0308	1	312	0.0032	22	c.228 others(41): Show c.2283+3635_2283+3636insTGTGTGTGTGTGTGTGTGCGCG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BIN2_chr12_51276038_51329174	51320934	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00438.hp1 others(9): Show HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00597.hp2 HG01099.hp1 HG02280.hp1 NA18966.hp1 NA18973.hp2 NA18991.hp1 NA19066.hp1 NA19068.hp2 NA19079.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0005 others(1): Show a0001c0001 a0001c0004 a0004c0005 a0004c0006	a0001c0001t0001 a0001c0004t0001 a0004c0005t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0004c0005t0001 a0004c0006t0001	a0001c0001t0001g0239 a0001c0001t0001g0314 a0001c0004t0001g0311 others(8): Show a0001c0001t0001g0239 a0001c0001t0001g0314 a0001c0004t0001g0311 a0001c0004t0001g0312 a0001c0004t0001g0313 a0001c0004t0001g0315 a0004c0005t0001g0037 a0004c0005t0001g0038 a0004c0005t0001g0039 a0004c0005t0001g0040 a0004c0006t0001g0005	12	400	0.0300	22	c.81+ others(37): Show c.81+3087_81+3088insGTGTGTGTGTGTGTGTGTGTGT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIRC2_chr11_102342214_102383670	102364139	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0039 a0004c0006t0001g0039	1	344	0.0029	22	c.112 others(39): Show c.1123+438_1123+459dupTATATATATATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364172	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18997.hp1 NA19011.hp1 NA18950.hp1 NA18997.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0088 a0001c0001t0001g0110 a0001c0004t0001g0038 a0001c0001t0001g0088 a0001c0001t0001g0110 a0001c0004t0001g0038	3	344	0.0087	22	c.112 others(39): Show c.1123+459_1123+460insTATATATATATATATATACATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364174	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	344	0.0029	22	c.112 others(39): Show c.1123+459_1123+460insTATATATATATATATATACACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364174	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03654.hp1 HG02683.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0065 a0001c0001t0001g0082	2	344	0.0058	22	c.112 others(39): Show c.1123+459_1123+460insTATATATATATATATATATACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102365743	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	344	0.0029	22	c.112 others(41): Show c.1123+2034_1123+2055dupGTGTGTGTGTGTGTGTGTGTGT	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC6_chr2_32352023_32623878	32431181	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0232 a0001c0044t0001g0232	1	274	0.0037	22	c.324 others(39): Show c.3248+102_3248+123dupTTTTTTTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	12/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0060 a0001c0008t0003g0060	1	274	0.0037	22	c.475 others(41): Show c.4754-2921_4754-2920insATATATATATATATATTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA19066.hp1 HG01361.hp2 NA19066.hp1	a0001 a0009 a0001 a0009	a0001c0003 a0009c0029 a0001c0003 a0009c0029	a0001c0003t0002 a0009c0029t0002 a0001c0003t0002 a0009c0029t0002	a0001c0003t0002g0130 a0009c0029t0002g0181 a0001c0003t0002g0130 a0009c0029t0002g0181	2	274	0.0073	22	c.475 others(41): Show c.4754-2921_4754-2920insATATATATATATATTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461147	C C	CCTCCCCT others(15): Show CCTCCCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03688.hp1 NA18747.hp1 others(4): Show HG02040.hp2 HG03688.hp1 NA18747.hp1 NA18944.hp2 NA19010.hp2 NA19054.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0001c0001t0001 a0001c0001t0002 a0001c0005t0002	a0001c0001t0001g0199 a0001c0001t0001g0217 a0001c0001t0001g0219 others(4): Show a0001c0001t0001g0199 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0242 a0001c0001t0001g0267 a0001c0001t0002g0211 a0001c0005t0002g0099	7	274	0.0256	22	c.475 others(41): Show c.4754-2034_4754-2033insCCCTCCCCTCTCCCCTCCCCTC	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(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	274	0.0037	22	c.740 others(39): Show c.7409-683_7409-662dupTTTTTTTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32532134	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02004.hp1 NA19000.hp1 HG01496.hp1 HG02004.hp1 NA19000.hp1	a0001 a0008 a0001 a0008	a0001c0010 a0001c0011 a0008c0043 a0001c0010 a0001c0011 a0008c0043	a0001c0010t0002 a0001c0011t0001 a0008c0043t0001 a0001c0010t0002 a0001c0011t0001 a0008c0043t0001	a0001c0010t0002g0063 a0001c0011t0001g0208 a0008c0043t0001g0274 a0001c0010t0002g0063 a0001c0011t0001g0208 a0008c0043t0001g0274	3	274	0.0110	22	c.122 others(41): Show c.12291+599_12291+620dupTGTGTGTGTGTGTGTGTGTGTG	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	61/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578979	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02145.hp2 HG02257.hp1 others(15): Show HG01361.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03516.hp1 HG03688.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0013 a0001c0023	a0001c0001t0001 a0001c0003t0003 a0001c0003t0009 others(3): Show a0001c0001t0001 a0001c0003t0003 a0001c0003t0009 a0001c0009t0001 a0001c0013t0003 a0001c0023t0001	a0001c0001t0001g0056 a0001c0001t0001g0190 a0001c0001t0001g0196 others(15): Show a0001c0001t0001g0056 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0220 a0001c0001t0001g0252 a0001c0003t0003g0032 a0001c0003t0003g0034 a0001c0003t0003g0035 a0001c0003t0003g0134 a0001c0003t0009g0031 a0001c0009t0001g0025 a0001c0009t0001g0026 a0001c0009t0001g0027 a0001c0009t0001g0028 a0001c0009t0001g0029 a0001c0013t0003g0153 a0001c0013t0003g0154 a0001c0023t0001g0229	18	274	0.0657	22	c.133 others(43): Show c.13355+3624_13355+3625insTATATATATATATATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 NA20129.hp2 HG01243.hp2 HG02055.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0299 a0001c0001t0004g0053 a0001c0001t0004g0299	3	404	0.0074	22	c.103 others(41): Show c.1035-1121_1035-1120insTTTTTTTTTTTTTTTTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03540.hp2 NA18942.hp2 others(1): Show HG00741.hp2 HG03540.hp2 NA18942.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0102 a0001c0003t0001g0199 a0001c0003t0001g0206 others(1): Show a0001c0001t0001g0102 a0001c0003t0001g0199 a0001c0003t0001g0206 a0001c0003t0001g0273	4	336	0.0119	22	c.749 others(38): Show c.7493+97_7493+118dupTTTTTTTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar

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