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
C9orf153_chr9_86215265_86264657	86251914	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(79): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01884.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02698.hp1 HG02738.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18985.hp1 NA18988.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19066.hp1 NA19068.hp1 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA19091.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0002c0002t0005	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(74): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0346 a0001c0001t0002g0013 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0071 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0011g0328 a0001c0001t0015g0149 a0001c0001t0017g0331 a0001c0001t0018g0273 a0001c0001t0020g0216 a0002c0002t0005g0312	82	384	0.2135	16	c.-27 others(33): Show c.-27+7620_-27+7635dupGTGTGTGTGTGTGTGT	C9orf153	ENSG00000187753.13	transcript	ENST00000339137.7	protein_coding	1/3			chr9	TogoVar
C9orf40_chr9_74941583_74957912	74943678	T T	TCCATTCT others(9): Show TCCATTCTGCTTCTAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	410	0.0024	16	c.43 others(27): Show c.4369_*4370insCTTAGAAGCAGAATGG	C9orf40	ENSG00000135045.7	transcript	ENST00000376854.6	protein_coding		2904		chr9	TogoVar
C9orf50_chr9_129607225_129626101	129610746	G G	GGGCCGGG others(9): Show GGGCCGGGGCCCGCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0004 a0004c0004t0003g0004	1	410	0.0024	16	c.15 others(27): Show c.1585_*1600dupGCGGCGGGCCCCGGCC	C9orf50	ENSG00000179058.8	transcript	ENST00000372478.5	protein_coding		1478		chr9	TogoVar
C9orf57_chr9_72046376_72065613	72055354	T T	TTCCCTCC others(9): Show TTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp1 others(39): Show HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG01074.hp2 HG01192.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01975.hp1 HG01981.hp2 HG02056.hp1 HG02074.hp2 HG02257.hp1 HG02523.hp1 HG02559.hp1 HG02717.hp1 HG02896.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03710.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18946.hp1 NA18951.hp1 NA18953.hp2 NA18957.hp2 NA18973.hp2 NA18977.hp2 NA19056.hp2 NA19058.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0028 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0273 a0001c0001t0003g0276 a0001c0002t0002g0147 a0001c0002t0002g0178	42	450	0.0933	16	c.280 others(31): Show c.280+704_280+719dupGGGAGGGAGGGAGGGA	C9orf57	ENSG00000204669.11	transcript	ENST00000651200.2	protein_coding	4/4			chr9	TogoVar
C9orf57_chr9_72046376_72065613	72055374	C C	CTCCCTCC others(9): Show CTCCCTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18522.hp2 NA19055.hp2 HG02809.hp2 NA18522.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0217 a0001c0001t0001g0268 a0001c0001t0002g0187 a0001c0001t0001g0217 a0001c0001t0001g0268 a0001c0001t0002g0187	3	450	0.0067	16	c.280 others(31): Show c.280+699_280+700insAGGAGGGAGGGAGGGA	C9orf57	ENSG00000204669.11	transcript	ENST00000651200.2	protein_coding	4/4			chr9	TogoVar
CA10_chr17_51625320_52163714	51631628	A A	AAAAAAAT others(9): Show AAAAAAATCACACATAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	156	0.0064	16	c.965 others(29): Show c.965-38_965-23dupGTATGTGTGATTTTTT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	8/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51707671	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01167.hp2 HG01169.hp1 others(9): Show HG00408.hp2 HG01167.hp2 HG01169.hp1 HG01891.hp2 HG02056.hp1 HG02922.hp1 HG03041.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 NA19062.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0041 a0001c0001t0001g0080 a0001c0001t0001g0092 others(9): Show a0001c0001t0001g0041 a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0002g0135 a0001c0001t0002g0150 a0001c0001t0003g0081 a0001c0001t0003g0114 a0001c0001t0005g0003 a0001c0001t0010g0112 a0001c0002t0001g0021 a0001c0002t0001g0067 a0001c0002t0001g0088	12	156	0.0769	16	c.465 others(35): Show c.465+39946_465+39961dupCACACACACACACACA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51717529	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0044	1	156	0.0064	16	c.465 others(35): Show c.465+30088_465+30103dupTATATATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51745408	A A	ATGCTTTC others(9): Show ATGCTTTCTTCACTCAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	156	0.0064	16	c.465 others(33): Show c.465+2209_465+2224dupATGAGTGAAGAAAGCA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51849233	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	156	0.0064	16	c.279 others(35): Show c.279+81741_279+81756dupTATATATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51874955	T T	TTTTTTCT others(9): Show TTTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	156	0.0064	16	c.279 others(35): Show c.279+56034_279+56035insGAAAAGAAAAGAAAAA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51874964	T T	TCTTTTCT others(9): Show TCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02257.hp2 HG02559.hp1 others(6): Show HG01516.hp2 HG02257.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG03130.hp2 HG03139.hp2 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0042 a0001c0001t0001g0092 a0001c0001t0001g0153 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0092 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0003g0024 a0001c0001t0003g0098 a0001c0001t0003g0106 a0001c0002t0001g0107 a0001c0002t0001g0133	9	156	0.0577	16	c.279 others(35): Show c.279+56025_279+56026insGAAAAGAAAAGAAAAG	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51878890	A A	ATATATAT others(9): Show ATATATATATATGGGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	156	0.0064	16	c.279 others(35): Show c.279+52099_279+52100insCACCCATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51942538	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	156	0.0064	16	c.137 others(35): Show c.137-11422_137-11407dupTATATATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	2/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52072678	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03041.hp1 HG01884.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0083 a0001c0001t0002g0072 a0001c0001t0001g0083 a0001c0001t0002g0072	2	156	0.0128	16	c.62- others(29): Show c.62-301_62-286dupGTGTGTGTGTGTGTGT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52123371	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp1 HG02723.hp2 others(1): Show HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0051 a0001c0001t0002g0085 a0001c0001t0002g0086 others(1): Show a0001c0001t0001g0051 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0003g0064	4	156	0.0256	16	c.61+ others(33): Show c.61+34339_61+34354dupACACACACACACACAC	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52160794	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 NA18962.hp1 HG01123.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0027 a0001c0001t0002g0035	2	156	0.0128	16	c.-30 others(27): Show c.-3009_-3008insGAAAGAAAGAAAGAAA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding		2081		chr17	TogoVar
CA12_chr15_63316378_63386846	63376557	C C	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00558.hp2 others(44): Show HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00639.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01515.hp1 HG01891.hp2 HG01978.hp1 HG02015.hp1 HG02083.hp1 HG02135.hp1 HG02258.hp2 HG02293.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02698.hp2 HG02818.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG04115.hp1 NA18939.hp2 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18970.hp2 NA19043.hp1 NA19072.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0004 a0001c0001 a0003c0006 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0034 a0001c0001t0037 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0056 a0003c0006t0004 a0004c0004t0006	a0001c0001t0001g0023 a0001c0001t0001g0082 a0001c0001t0001g0105 others(44): Show a0001c0001t0001g0023 a0001c0001t0001g0082 a0001c0001t0001g0105 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0268 a0001c0001t0002g0079 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0182 a0001c0001t0002g0192 a0001c0001t0003g0077 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0104 a0001c0001t0004g0190 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0260 a0001c0001t0006g0338 a0001c0001t0006g0339 a0001c0001t0007g0343 a0001c0001t0008g0076 a0001c0001t0008g0093 a0001c0001t0008g0194 a0001c0001t0009g0078 a0001c0001t0011g0020 a0001c0001t0011g0181 a0001c0001t0012g0332 a0001c0001t0012g0333 a0001c0001t0016g0184 a0001c0001t0034g0189 a0001c0001t0037g0183 a0001c0001t0044g0026 a0001c0001t0045g0327 a0001c0001t0049g0051 a0001c0001t0050g0342 a0001c0001t0051g0050 a0001c0001t0056g0016 a0003c0006t0004g0180 a0004c0004t0006g0010	47	356	0.1320	16	c.86- others(29): Show c.86-895_86-880dupAAAGAAAGAAAGAAAG	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA1_chr8_85322608_85383113	85334594	C C	CCCTCCCT others(9): Show CCCTCCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01099.hp1 others(6): Show HG00544.hp2 HG00597.hp2 HG01099.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG03098.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0047 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0093 a0001c0001t0001g0114	9	324	0.0278	16	c.355 others(31): Show c.355-990_355-975dupAAGGAAGGGAGGGAGG	CA1	ENSG00000133742.14	transcript	ENST00000523022.6	protein_coding	4/7			chr8	TogoVar
CA1_chr8_85322608_85383113	85338632	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0140 a0003c0003t0001g0140	1	324	0.0031	16	c.38- others(29): Show c.38-199_38-184dupGAAAGAAAGAAAGAAA	CA1	ENSG00000133742.14	transcript	ENST00000523022.6	protein_coding	2/7			chr8	TogoVar
CA2_chr8_85459007_85486493	85463769	A A	AGGAGCCC others(9): Show AGGAGCCCCGGAGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA20905.hp2 NA18977.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	336	0.0060	16	c.-31 others(25): Show c.-313_-312insGGAGCCCCGGAGCCCC	CA2	ENSG00000104267.10	transcript	ENST00000285379.10	protein_coding		237		chr8	TogoVar
CA4_chr17_60144973_60164546	60155498	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02886.hp1 others(1): Show HG01891.hp1 HG02055.hp1 HG02886.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0136 others(1): Show a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0145	4	380	0.0105	16	c.112 others(31): Show c.112+142_112+157dupACACACACACACACAC	CA4	ENSG00000167434.10	transcript	ENST00000300900.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
CA5A_chr16_87883013_87941529	87937767	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG02074.hp2 others(13): Show HG00639.hp2 HG01243.hp1 HG02074.hp2 HG02145.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03579.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0005 others(2): Show a0001c0001 a0001c0003 a0002c0005 a0002c0011 a0003c0006	a0001c0001t0001 a0001c0003t0002 a0002c0005t0001 others(2): Show a0001c0001t0001 a0001c0003t0002 a0002c0005t0001 a0002c0011t0002 a0003c0006t0001	a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0072 others(13): Show a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0380 a0001c0001t0001g0385 a0001c0003t0002g0381 a0002c0005t0001g0015 a0002c0005t0001g0016 a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0011t0002g0019 a0003c0006t0001g0004 a0003c0006t0001g0005 a0003c0006t0001g0006 a0003c0006t0001g0011	16	400	0.0400	16	c.-13 others(27): Show c.-1318_-1317insGAAAGAAAGAAAGAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1239		chr16	TogoVar
CA5A_chr16_87883013_87941529	87939963	C C	CGATAGAT others(9): Show CGATAGATAGATAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00735.hp1 others(63): Show HG00609.hp1 HG00639.hp2 HG00735.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02486.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18956.hp1 NA19012.hp1 NA19043.hp2 NA19056.hp2 NA19070.hp2 NA19077.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0002c0005 a0002c0011 a0003c0006	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 others(6): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0004t0001 a0001c0014t0001 a0002c0005t0001 a0002c0005t0003 a0002c0011t0002 a0003c0006t0001	a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 others(63): Show a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0179 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0273 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0368 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0382 a0001c0002t0002g0087 a0001c0002t0002g0253 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0003t0002g0054 a0001c0003t0002g0067 a0001c0003t0002g0383 a0001c0004t0001g0255 a0001c0014t0001g0102 a0002c0005t0001g0012 a0002c0005t0001g0016 a0002c0005t0001g0022 a0002c0005t0001g0024 a0002c0005t0003g0020 a0002c0011t0002g0019 a0003c0006t0001g0003 a0003c0006t0001g0007 a0003c0006t0001g0009	66	400	0.1650	16	c.-35 others(27): Show c.-3514_-3513insTATCTATCTATCTATC	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		3435		chr16	TogoVar
CA5A_chr16_87883013_87941529	87939963	C C	CGATAGAT others(9): Show CGATAGATGGATAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	400	0.0025	16	c.-35 others(27): Show c.-3514_-3513insTATCTATCCATCTATC	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		3435		chr16	TogoVar
CA5A_chr16_87883013_87941529	87939963	C C	CGATCGAT others(9): Show CGATCGATAGATAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02922.hp2 HG03195.hp2 others(1): Show HG02109.hp2 HG02922.hp2 HG03195.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0063 a0001c0001t0001g0175 a0001c0001t0001g0233 others(1): Show a0001c0001t0001g0063 a0001c0001t0001g0175 a0001c0001t0001g0233 a0002c0005t0001g0017	4	400	0.0100	16	c.-35 others(27): Show c.-3514_-3513insTATCTATCTATCGATC	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		3435		chr16	TogoVar
CA5A_chr16_87883013_87941529	87940803	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	400	0.0025	16	c.-43 others(27): Show c.-4354_-4353insAAAAAAAAAAAAAAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		4275		chr16	TogoVar
CA6_chr1_8940868_8980092	8959931	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp2 HG01884.hp2 HG02965.hp2	a0004 a0004	a0004c0008 a0004c0009 a0004c0008 a0004c0009	a0004c0008t0003 a0004c0009t0007 a0004c0008t0003 a0004c0009t0007	a0004c0008t0003g0217 a0004c0009t0007g0224 a0004c0008t0003g0217 a0004c0009t0007g0224	2	452	0.0044	16	c.501 others(31): Show c.501+933_501+948dupAAAAAAAAAAAAAAAA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8960789	C C	CACACACA others(9): Show CACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0428 a0008c0012t0001g0428	1	452	0.0022	16	c.501 others(33): Show c.501+1788_501+1789insCACACACACACATATA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8960789	C C	CACACACA others(9): Show CACACACACACATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0049 a0003c0003t0001g0049	1	452	0.0022	16	c.501 others(33): Show c.501+1788_501+1789insCACACACACATATATA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8960789	C C	CACACACA others(9): Show CACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01496.hp1 HG02129.hp2 others(8): Show HG01346.hp1 HG01496.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02300.hp1 HG02818.hp1 HG03669.hp1 HG03942.hp1 NA18970.hp2 NA19055.hp1	a0002 a0007 a0009 a0002 a0007 a0009	a0002c0001 a0007c0007 a0009c0010 a0002c0001 a0007c0007 a0009c0010	a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 others(2): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0007c0007t0001 a0009c0010t0001	a0002c0001t0001g0135 a0002c0001t0001g0211 a0002c0001t0001g0230 others(8): Show a0002c0001t0001g0135 a0002c0001t0001g0211 a0002c0001t0001g0230 a0002c0001t0001g0243 a0002c0001t0002g0339 a0002c0001t0002g0342 a0002c0001t0002g0343 a0002c0001t0002g0344 a0002c0001t0005g0237 a0007c0007t0001g0139 a0009c0010t0001g0306	11	452	0.0243	16	c.501 others(33): Show c.501+1788_501+1789insCACACATATATATATA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8977700	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02056.hp2 HG02280.hp1 others(5): Show HG00558.hp1 HG02056.hp2 HG02280.hp1 NA18612.hp1 NA18747.hp2 NA18946.hp2 NA18955.hp1 NA19087.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0002 a0002c0001 a0004c0008 others(1): Show a0001c0002 a0002c0001 a0004c0008 a0005c0005	a0001c0002t0001 a0001c0002t0004 a0002c0001t0001 others(2): Show a0001c0002t0001 a0001c0002t0004 a0002c0001t0001 a0004c0008t0001 a0005c0005t0001	a0001c0002t0001g0354 a0001c0002t0001g0400 a0001c0002t0001g0421 others(5): Show a0001c0002t0001g0354 a0001c0002t0001g0400 a0001c0002t0001g0421 a0001c0002t0004g0378 a0002c0001t0001g0283 a0002c0001t0001g0336 a0004c0008t0001g0215 a0005c0005t0001g0112	8	452	0.0177	16	c.29 others(27): Show c.2996_*2997insAAAGAAAGAAAGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CAAP1_chr9_26835685_26897802	26847198	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02523.hp2 HG01975.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0221 a0001c0001t0001g0177 a0001c0001t0001g0221	2	372	0.0054	16	c.740 others(33): Show c.740-4567_740-4552dupAAAAAAAAAAAAAAAA	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5			chr9	TogoVar
CAAP1_chr9_26835685_26897802	26871914	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02257.hp2 HG02280.hp1 others(4): Show HG01192.hp2 HG02257.hp2 HG02280.hp1 HG02976.hp2 HG03209.hp1 HG03516.hp1 HG03540.hp2	a0002 a0007 a0002 a0007	a0002c0003 a0007c0006 a0002c0003 a0007c0006	a0002c0003t0001 a0007c0006t0001 a0002c0003t0001 a0007c0006t0001	a0002c0003t0001g0001 a0002c0003t0001g0019 a0002c0003t0001g0033 others(3): Show a0002c0003t0001g0001 a0002c0003t0001g0019 a0002c0003t0001g0033 a0002c0003t0001g0035 a0002c0003t0001g0036 a0007c0006t0001g0025	7	372	0.0188	16	c.666 others(35): Show c.666-10791_666-10776dupATTTATTTATTTATTT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAAP1_chr9_26835685_26897802	26871942	T T	TAAATAAA others(9): Show TAAATAAATAAATAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0032 a0002c0003t0001g0032	1	372	0.0027	16	c.666 others(35): Show c.666-10804_666-10803insTTTTATTTATTTATTT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAAP1_chr9_26835685_26897802	26872553	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0021 a0002c0003t0001g0021	1	372	0.0027	16	c.666 others(35): Show c.666-11430_666-11415dupATATATATATATATAT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49316512	A A	AACAACAC others(9): Show AACAACACAAAAAAACT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	324	0.0031	16	c.835 others(33): Show c.835-5535_835-5520dupAGTTTTTTTGTGTTGT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG02280.hp1 others(7): Show HG00642.hp1 HG01106.hp2 HG02280.hp1 HG02293.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008	a0001c0001t0002g0318 a0001c0001t0004g0062 a0001c0001t0004g0063 others(7): Show a0001c0001t0002g0318 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0006g0135 a0001c0002t0001g0259 a0001c0002t0001g0294 a0001c0002t0002g0074 a0001c0002t0002g0256 a0001c0002t0003g0034 a0001c0002t0008g0105	10	324	0.0309	16	c.565 others(33): Show c.565-1878_565-1863dupATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49376891	G G	GTAGATAG others(9): Show GTAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00733.hp2 others(45): Show HG00099.hp1 HG00323.hp2 HG00733.hp2 HG01109.hp2 HG01261.hp2 HG01496.hp1 HG01981.hp2 HG01993.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp2 NA18522.hp2 NA18612.hp2 NA18960.hp1 NA18973.hp2 NA18983.hp1 NA19005.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016	a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 others(45): Show a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0136 a0001c0001t0001g0160 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0297 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0002g0055 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0157 a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0002g0198 a0001c0001t0002g0210 a0001c0001t0002g0227 a0001c0001t0002g0237 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0278 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0300 a0001c0001t0003g0009 a0001c0001t0003g0015 a0001c0001t0003g0027 a0001c0001t0003g0035 a0001c0001t0004g0103 a0001c0001t0004g0271 a0001c0001t0005g0003 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0183 a0001c0001t0006g0104 a0001c0001t0006g0135 a0001c0001t0006g0162 a0001c0001t0006g0260 a0001c0001t0016g0314	48	324	0.1482	16	c.276 others(29): Show c.276+60_276+75dupTCTATCTATCTATCTA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	5/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49405719	G G	GAGAGAGG others(9): Show GAGAGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp2 HG03041.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0318 a0001c0001t0002g0319	2	324	0.0062	16	c.-31 others(35): Show c.-31-22779_-31-22778insTCCTTCCTTCCTCTCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441221	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG03041.hp1 others(5): Show HG02630.hp1 HG02886.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0309 a0001c0001t0002g0318 a0001c0001t0002g0319 others(5): Show a0001c0001t0001g0309 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0006g0260 a0001c0002t0001g0060 a0001c0002t0001g0310 a0001c0002t0002g0287 a0001c0002t0007g0320	8	324	0.0247	16	c.-24 others(35): Show c.-246+2749_-246+2764dupTATATATATATATATA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230727363	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03471.hp1 HG03540.hp1 others(2): Show HG01106.hp1 HG03471.hp1 HG03540.hp1 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0017 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0017 a0001c0001t0040 a0001c0001t0043	a0001c0001t0002g0306 a0001c0001t0009g0008 a0001c0001t0017g0010 others(2): Show a0001c0001t0002g0306 a0001c0001t0009g0008 a0001c0001t0017g0010 a0001c0001t0040g0014 a0001c0001t0043g0009	5	342	0.0146	16	c.-44 others(35): Show c.-44+14154_-44+14169dupGTGTGTGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230728239	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0021 a0001c0001t0019g0021	1	342	0.0029	16	c.-44 others(35): Show c.-44+15021_-44+15036dupTAAATAAATAAATAAA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748829	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18991.hp1 homoSapiens_chm13v2.hp1 HG00423.hp2 NA18991.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0297 a0001c0001t0005g0128 a0001c0001t0007g0156 a0001c0001t0001g0297 a0001c0001t0005g0128 a0001c0001t0007g0156	3	342	0.0088	16	c.-43 others(35): Show c.-43-11129_-43-11128insTATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAAAAAA others(9): Show AAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0135 a0001c0001t0025g0135	1	342	0.0029	16	c.-43 others(35): Show c.-43-11127_-43-11126insAAAAAAAAAATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0018 a0001c0001t0009g0018	1	342	0.0029	16	c.-43 others(35): Show c.-43-11127_-43-11126insAAAAAAAATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAAAAAA others(9): Show AAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG04228.hp2 HG02523.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0038 a0001c0001t0001 a0001c0001t0038	a0001c0001t0001g0266 a0001c0001t0038g0282 a0001c0001t0001g0266 a0001c0001t0038g0282	2	342	0.0059	16	c.-43 others(35): Show c.-43-11127_-43-11126insAAAAAATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0247 a0001c0001t0056g0247	1	342	0.0029	16	c.-43 others(35): Show c.-43-11127_-43-11126insAAAATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAATATA others(9): Show AAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19065.hp2 NA19056.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0261 a0001c0001t0007g0141 a0001c0001t0001g0261 a0001c0001t0007g0141	2	342	0.0059	16	c.-43 others(35): Show c.-43-11127_-43-11126insAATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	342	0.0029	16	c.-43 others(35): Show c.-43-11106_-43-11091dupTATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar

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