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
AAK1_chr2_69452997_69648739	69640014	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0204 a0001c0001t0006g0204	1	298	0.0034	10	c.163 others(27): Show c.163+2854_163+2863dupGTGTGTGTGT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69640053	A A	ACACACTC others(3): Show ACACACTCTCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03453.hp2 HG02723.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0121 a0001c0001t0116 a0001c0001t0121	a0001c0001t0116g0185 a0001c0001t0121g0186 a0001c0001t0116g0185 a0001c0001t0121g0186	2	298	0.0067	10	c.163 others(27): Show c.163+2824_163+2825insAGAGAGTGTG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69644165	T T	TTCGCGCC others(3): Show TTCGCGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02922.hp1 HG02970.hp2 others(1): Show HG02559.hp1 HG02922.hp1 HG02970.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0011 a0001c0001 a0001c0009 a0001c0011	a0001c0001t0057 a0001c0001t0104 a0001c0009t0035 others(1): Show a0001c0001t0057 a0001c0001t0104 a0001c0009t0035 a0001c0011t0029	a0001c0001t0057g0291 a0001c0001t0104g0292 a0001c0009t0035g0190 others(1): Show a0001c0001t0057g0291 a0001c0001t0104g0292 a0001c0009t0035g0190 a0001c0011t0029g0294	4	298	0.0134	10	c.-82 others(19): Show c.-826_-825insGGGGGCGCGA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding		427		chr2	TogoVar
AAMDC_chr11_77816144_77877352	77838214	T T	TGTCTTGT others(3): Show TGTCTTGTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp1 others(43): Show HG00099.hp1 HG00140.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG01070.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01255.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG02027.hp1 HG02074.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02735.hp1 HG03017.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 NA18955.hp1 NA18959.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18979.hp2 NA18990.hp2 NA18994.hp2 NA19074.hp1 NA19088.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0219 a0001c0002t0002g0224 others(42): Show a0001c0002t0002g0007 a0001c0002t0002g0219 a0001c0002t0002g0224 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0276 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0348 a0001c0002t0002g0349	46	382	0.1204	10	c.-18 others(27): Show c.-18-4265_-18-4264insGTCTTGTTTG	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	1/3			chr11	TogoVar
AAMDC_chr11_77816144_77877352	77858302	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	382	0.0026	10	c.133 others(29): Show c.133-11404_133-11395dupTTTTTTTTTT	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AANAT_chr17_76462603_76475117	76463309	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00738.hp2 others(9): Show HG00140.hp2 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01884.hp2 HG02615.hp1 HG02896.hp2 HG02965.hp2 HG03098.hp1 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008	12	426	0.0282	10	c.-44 others(21): Show c.-4494_-4493insTTTTTTTTTT	AANAT	ENSG00000129673.10	transcript	ENST00000392492.8	protein_coding		4293		chr17	TogoVar
AAR2_chr20_36231478_36261933	36232816	C C	CCTCTCTC others(3): Show CCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02723.hp1 HG02809.hp1 HG01081.hp1 HG02723.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0035 a0001c0002t0001g0006 a0001c0002t0001g0035	3	298	0.0101	10	c.-37 others(21): Show c.-3736_-3735insCTCTCTCTCT	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		3661		chr20	TogoVar
AAR2_chr20_36231478_36261933	36258142	T T	TACACACA others(3): Show TACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02280.hp1 HG02451.hp1 others(2): Show HG01192.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0152 a0001c0002t0001g0032 a0001c0002t0002g0037 others(1): Show a0001c0001t0001g0152 a0001c0002t0001g0032 a0001c0002t0002g0037 a0001c0002t0002g0149	5	298	0.0168	10	c.23 others(21): Show c.2397_*2398insACACACACAC	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		1210		chr20	TogoVar
AARS1_chr16_70247298_70294506	70262967	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	362	0.0028	10	c.149 others(27): Show c.1493-453_1493-444dupTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	11/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70269322	G G	GAAAAAAA others(3): Show GAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0318 a0004c0006t0001g0318	1	362	0.0028	10	c.962 others(25): Show c.962+286_962+295dupTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70272889	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp1 HG01109.hp2 others(21): Show HG01069.hp2 HG01099.hp1 HG01109.hp2 HG01943.hp2 HG02040.hp2 HG02083.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 NA18943.hp1 NA18953.hp2 NA19009.hp2 NA19043.hp1 NA19065.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0016 a0002c0004 others(2): Show a0001c0001 a0001c0016 a0002c0004 a0003c0005 a0009c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0016t0001 a0002c0004t0001 a0003c0005t0001 a0009c0017t0001	a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0060 others(21): Show a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0143 a0001c0001t0001g0333 a0001c0001t0002g0292 a0001c0001t0002g0313 a0001c0001t0002g0330 a0001c0001t0006g0054 a0001c0016t0001g0097 a0002c0004t0001g0338 a0002c0004t0001g0340 a0002c0004t0001g0342 a0002c0004t0001g0357 a0002c0004t0001g0359 a0003c0005t0001g0153 a0009c0017t0001g0026	24	362	0.0663	10	c.480 others(25): Show c.480-927_480-918dupGTGTGTGTGT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70289757	G G	GCCCCCCC others(3): Show GCCCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	362	0.0028	10	c.-35 others(19): Show c.-359_-358insGCGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		252		chr16	TogoVar
AARS1_chr16_70247298_70294506	70293597	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02083.hp1 HG02132.hp2 others(7): Show HG00558.hp1 HG02083.hp1 HG02132.hp2 HG03139.hp1 NA18612.hp2 NA18970.hp2 NA18975.hp2 NA19010.hp1 NA19063.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0017 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0034	10	362	0.0276	10	c.-42 others(21): Show c.-4208_-4199dupAAAAAAAAAA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		4092		chr16	TogoVar
AARS2_chr6_44293731_44318347	44313696	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00642.hp2 others(3): Show HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01891.hp2 HG02922.hp1 HG02965.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0002c0012 others(1): Show a0001c0001 a0001c0002 a0002c0012 a0011c0013	a0001c0001t0005 a0001c0001t0023 a0001c0002t0002 others(2): Show a0001c0001t0005 a0001c0001t0023 a0001c0002t0002 a0002c0012t0004 a0011c0013t0021	a0001c0001t0005g0004 a0001c0001t0023g0083 a0001c0002t0002g0006 others(2): Show a0001c0001t0005g0004 a0001c0001t0023g0083 a0001c0002t0002g0006 a0002c0012t0004g0077 a0011c0013t0021g0078	6	396	0.0152	10	c.-37 others(19): Show c.-374_-373insACACACACAC	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding		350		chr6	TogoVar
AASDH_chr4_56333290_56392491	56341389	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00735.hp1 others(24): Show HG00140.hp1 HG00140.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01243.hp1 HG01346.hp1 HG01433.hp1 HG02055.hp2 HG02148.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18989.hp1 NA19060.hp1 homoSapiens_chm13v2.hp1	a0003 a0007 a0018 a0003 a0007 a0018	a0003c0003 a0007c0008 a0018c0023 a0003c0003 a0007c0008 a0018c0023	a0003c0003t0002 a0007c0008t0001 a0018c0023t0002 a0003c0003t0002 a0007c0008t0001 a0018c0023t0002	a0003c0003t0002g0027 a0003c0003t0002g0044 a0003c0003t0002g0047 others(23): Show a0003c0003t0002g0027 a0003c0003t0002g0044 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0052 a0003c0003t0002g0244 a0003c0003t0002g0247 a0003c0003t0002g0248 a0003c0003t0002g0251 a0003c0003t0002g0252 a0003c0003t0002g0259 a0003c0003t0002g0260 a0003c0003t0002g0262 a0003c0003t0002g0267 a0003c0003t0002g0268 a0003c0003t0002g0270 a0003c0003t0002g0277 a0003c0003t0002g0279 a0003c0003t0002g0286 a0003c0003t0002g0287 a0003c0003t0002g0293 a0003c0003t0002g0294 a0007c0008t0001g0059 a0007c0008t0001g0060 a0007c0008t0001g0061 a0018c0023t0002g0043	27	382	0.0707	10	c.290 others(29): Show c.2907+1436_2907+1445dupAAAAAAAAAA	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	14/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56373213	C C	CCCAAGTT others(3): Show CCCAAGTTCGA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0170 a0004c0004t0001g0170	1	382	0.0026	10	c.669 others(27): Show c.669-1571_669-1570insTCGAACTTGG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	4/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCTCACAC others(3): Show TCTCACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01106.hp1 others(47): Show HG00735.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG02004.hp1 HG02040.hp2 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02451.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG03239.hp2 HG03516.hp2 HG04184.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18961.hp1 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18982.hp2 NA18997.hp2 NA18999.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19077.hp2 NA19086.hp1 NA19090.hp2	a0002 a0012 a0014 a0002 a0012 a0014	a0002c0002 a0002c0006 a0002c0024 others(2): Show a0002c0002 a0002c0006 a0002c0024 a0012c0015 a0014c0016	a0002c0002t0001 a0002c0002t0007 a0002c0006t0001 others(3): Show a0002c0002t0001 a0002c0002t0007 a0002c0006t0001 a0002c0024t0001 a0012c0015t0001 a0014c0016t0001	a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0023 others(39): Show a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0023 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0217 a0002c0002t0001g0227 a0002c0002t0001g0329 a0002c0002t0007g0330 a0002c0006t0001g0024 a0002c0006t0001g0188 a0002c0006t0001g0228 a0002c0006t0001g0229 a0002c0006t0001g0230 a0002c0006t0001g0231 a0002c0006t0001g0236 a0002c0006t0001g0237 a0002c0024t0001g0234 a0012c0015t0001g0194 a0014c0016t0001g0218	50	382	0.1309	10	c.351 others(25): Show c.351+827_351+828insTGTGTGTGAG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCTCTCAC others(3): Show TCTCTCACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG03041.hp1 others(3): Show HG02145.hp1 HG02630.hp1 HG03041.hp1 HG03139.hp1 HG03453.hp1 NA19043.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0035 a0005c0007t0003g0036 a0005c0007t0003g0037 others(3): Show a0005c0007t0003g0035 a0005c0007t0003g0036 a0005c0007t0003g0037 a0005c0007t0003g0038 a0005c0007t0003g0039 a0005c0007t0003g0040	6	382	0.0157	10	c.351 others(25): Show c.351+827_351+828insTGTGTGAGAG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASS_chr7_122068549_122149249	122140485	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18956.hp1 homoSapiens_chm13v2.hp1 HG01978.hp2 NA18956.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0043 a0001c0001t0001g0110 a0001c0001t0019g0155 a0001c0001t0001g0043 a0001c0001t0001g0110 a0001c0001t0019g0155	3	384	0.0078	10	c.-16 others(27): Show c.-16+3666_-16+3675dupTTTTTTTTTT	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
AATF_chr17_36943954_37061871	37022113	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	245	0.0041	10	c.154 others(29): Show c.1547+1129_1547+1138dupTGTGTGTGTG	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37046730	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02135.hp2 others(3): Show HG01884.hp1 HG02109.hp1 HG02135.hp2 HG02965.hp2 HG03834.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 a0001c0001t0001 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0003t0001g0035 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0003t0001g0035 a0001c0003t0001g0080 a0002c0004t0001g0099 a0002c0004t0001g0102	6	245	0.0245	10	c.162 others(29): Show c.1620-9840_1620-9831dupACACACACAC	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37051693	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0095 a0003c0005t0001g0095	1	245	0.0041	10	c.162 others(29): Show c.1620-4905_1620-4904insCACACACACA	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATK_chr17_81112295_81171221	81119256	A A	AGGAGCGG others(3): Show AGGAGCGGAGC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0247 a0003c0009t0001g0247	1	368	0.0027	10	c.408 others(27): Show c.4084+114_4084+123dupGCTCCGCTCC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8673396	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03098.hp2 HG03471.hp1 others(2): Show HG01243.hp2 HG03098.hp2 HG03471.hp1 HG03516.hp2 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0008 a0001c0001t0011 a0001c0003t0001 others(2): Show a0001c0001t0008 a0001c0001t0011 a0001c0003t0001 a0002c0002t0003 a0002c0002t0005	a0001c0001t0008g0040 a0001c0001t0011g0238 a0001c0003t0001g0356 others(2): Show a0001c0001t0008g0040 a0001c0001t0011g0238 a0001c0003t0001g0356 a0002c0002t0003g0241 a0002c0002t0005g0243	5	362	0.0138	10	c.-13 others(21): Show c.-1357_-1356insTGTGTGTGTG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding		1220		chr16	TogoVar
ABAT_chr16_8669617_8789570	8682186	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01496.hp2 others(10): Show HG00099.hp1 HG01074.hp1 HG01496.hp2 HG02257.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 NA18906.hp2 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0002c0005 a0002c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0047 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0047 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 a0002c0002t0045 a0002c0004t0001 a0002c0005t0001 a0002c0007t0007 a0002c0007t0013	a0001c0001t0001g0024 a0001c0001t0006g0303 a0001c0001t0006g0312 others(10): Show a0001c0001t0001g0024 a0001c0001t0006g0303 a0001c0001t0006g0312 a0001c0001t0047g0314 a0002c0002t0001g0021 a0002c0002t0002g0020 a0002c0002t0003g0269 a0002c0002t0011g0313 a0002c0002t0045g0311 a0002c0004t0001g0019 a0002c0005t0001g0022 a0002c0007t0007g0341 a0002c0007t0013g0031	13	362	0.0359	10	c.-42 others(27): Show c.-42+7507_-42+7516dupCACACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8707353	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(37): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00733.hp2 HG01074.hp1 HG01081.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01496.hp2 HG01891.hp2 HG02074.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03927.hp2 HG04204.hp2 NA18977.hp1 NA18986.hp1 NA19002.hp2 NA19058.hp2 NA19066.hp1 NA19070.hp2 NA19077.hp2 NA19083.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0021 others(8): Show a0001c0001 a0001c0003 a0001c0021 a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0008 a0002c0009 a0002c0016	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0021t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0005t0001 a0002c0005t0004 a0002c0005t0008 a0002c0006t0003 a0002c0007t0003 a0002c0007t0011 a0002c0008t0002 a0002c0008t0003 a0002c0009t0002 a0002c0016t0003	a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0110 others(37): Show a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0110 a0001c0001t0001g0125 a0001c0001t0001g0227 a0001c0001t0001g0246 a0001c0001t0001g0280 a0001c0001t0002g0034 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0226 a0001c0001t0002g0296 a0001c0003t0001g0035 a0001c0003t0002g0148 a0001c0003t0002g0177 a0001c0021t0001g0111 a0002c0002t0001g0021 a0002c0002t0001g0045 a0002c0002t0001g0297 a0002c0002t0002g0006 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0053 a0002c0002t0002g0184 a0002c0004t0001g0019 a0002c0004t0001g0230 a0002c0004t0002g0229 a0002c0004t0003g0001 a0002c0004t0004g0362 a0002c0005t0001g0022 a0002c0005t0004g0190 a0002c0005t0008g0016 a0002c0005t0008g0017 a0002c0006t0003g0023 a0002c0007t0003g0005 a0002c0007t0011g0004 a0002c0008t0002g0013 a0002c0008t0003g0015 a0002c0009t0002g0003 a0002c0016t0003g0235	40	362	0.1105	10	c.-41 others(29): Show c.-41-28338_-41-28329dupTTTTTTTTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710683	T T	TGAGAGAG others(3): Show TGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0241 a0002c0002t0003g0241	1	362	0.0028	10	c.-41 others(29): Show c.-41-25015_-41-25006dupGAGAGAGAGA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710694	C C	CAGAGAGA others(3): Show CAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	362	0.0028	10	c.-41 others(29): Show c.-41-24978_-41-24969dupAGAGAGAGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710717	A A	AGAGAGGG others(3): Show AGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	362	0.0028	10	c.-41 others(29): Show c.-41-24977_-41-24976insGGAGGGAGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710723	A A	AGAGGGAG others(3): Show AGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp2 NA18971.hp1 HG02145.hp2 HG02630.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0007 a0001c0001 a0002c0004 a0002c0007	a0001c0001t0001 a0002c0004t0007 a0002c0007t0013 a0001c0001t0001 a0002c0004t0007 a0002c0007t0013	a0001c0001t0001g0121 a0002c0004t0007g0347 a0002c0007t0013g0027 a0001c0001t0001g0121 a0002c0004t0007g0347 a0002c0007t0013g0027	3	362	0.0083	10	c.-41 others(29): Show c.-41-24973_-41-24972insGGAGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGGG others(3): Show AGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	362	0.0028	10	c.-41 others(29): Show c.-41-24969_-41-24968insAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8723809	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18971.hp2 HG02280.hp2 NA18971.hp2	a0002 a0002	a0002c0004 a0002c0009 a0002c0004 a0002c0009	a0002c0004t0003 a0002c0009t0002 a0002c0004t0003 a0002c0009t0002	a0002c0004t0003g0198 a0002c0009t0002g0316 a0002c0004t0003g0198 a0002c0009t0002g0316	2	362	0.0055	10	c.-41 others(29): Show c.-41-11880_-41-11871dupATATATATAT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743423	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0186 a0002c0005t0004g0186	1	362	0.0028	10	c.71- others(25): Show c.71-2565_71-2556dupTATATATATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(3): Show TATATATATAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG06807.hp2 NA19009.hp2 HG03669.hp1 HG06807.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0003 a0002c0002t0002 a0002c0004t0001 a0001c0001t0003 a0002c0002t0002 a0002c0004t0001	a0001c0001t0003g0029 a0002c0002t0002g0054 a0002c0004t0001g0128 a0001c0001t0003g0029 a0002c0002t0002g0054 a0002c0004t0001g0128	3	362	0.0083	10	c.71- others(25): Show c.71-2556_71-2555insTATATATACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8754179	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00609.hp1 others(24): Show HG00438.hp1 HG00544.hp2 HG00609.hp1 HG01516.hp1 HG01934.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02738.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp2 NA18943.hp1 NA18963.hp1 NA18967.hp2 NA18979.hp1 NA18979.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA19002.hp1 NA19066.hp1 NA19082.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0021 others(1): Show a0001c0001 a0001c0003 a0001c0021 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0036 a0001c0003t0044 a0001c0021t0001 a0002c0002t0017 a0002c0002t0029	a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0001g0125 others(24): Show a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0001g0125 a0001c0001t0001g0173 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0287 a0001c0001t0001g0318 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0003g0102 a0001c0001t0004g0096 a0001c0001t0004g0109 a0001c0001t0004g0117 a0001c0001t0004g0273 a0001c0001t0005g0052 a0001c0001t0005g0138 a0001c0003t0001g0089 a0001c0003t0003g0221 a0001c0003t0003g0350 a0001c0003t0003g0359 a0001c0003t0004g0290 a0001c0003t0036g0158 a0001c0003t0044g0261 a0001c0021t0001g0111 a0002c0002t0017g0055 a0002c0002t0029g0208	27	362	0.0746	10	c.317 others(27): Show c.317-3561_317-3552dupAAAAAAAAAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8754185	A A	AAAAAATA others(3): Show AAAAAATAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0320 a0002c0009t0002g0320	1	362	0.0028	10	c.317 others(27): Show c.317-3567_317-3566insTAAATAAAAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8773105	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp2 HG01175.hp1 others(15): Show HG00673.hp1 HG00733.hp2 HG01175.hp1 HG01993.hp2 HG02683.hp2 HG03579.hp1 NA18948.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18977.hp1 NA18983.hp1 NA18998.hp1 NA19006.hp2 NA19056.hp1 NA19058.hp1 NA19063.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 others(3): Show a0001c0001 a0001c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0018	a0001c0001t0001 a0001c0001t0043 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0043 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0002c0004t0003 a0002c0005t0003 a0002c0005t0004 a0002c0005t0016 a0002c0006t0001 a0002c0018t0046	a0001c0001t0001g0058 a0001c0001t0043g0056 a0001c0003t0001g0092 others(15): Show a0001c0001t0001g0058 a0001c0001t0043g0056 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0003g0119 a0001c0003t0003g0120 a0001c0003t0003g0135 a0001c0003t0003g0165 a0001c0003t0003g0175 a0001c0003t0003g0267 a0001c0003t0004g0103 a0001c0003t0004g0279 a0002c0004t0003g0032 a0002c0005t0003g0207 a0002c0005t0004g0190 a0002c0005t0016g0072 a0002c0006t0001g0349 a0002c0018t0046g0336	18	362	0.0497	10	c.954 others(25): Show c.954+222_954+231dupCACACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8773105	T T	TATACACA others(3): Show TATACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0183 a0002c0006t0001g0183	1	362	0.0028	10	c.954 others(25): Show c.954+189_954+190insTACACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CATATACA others(3): Show CATATACATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01074.hp1 HG01167.hp2 others(22): Show HG00609.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02735.hp1 HG03834.hp2 HG04199.hp1 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 NA18987.hp1 NA18993.hp2 NA19000.hp2 NA19068.hp1 NA19074.hp1 NA19086.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0004c0006 a0003c0003 a0004c0004 a0004c0006	a0003c0003t0001 a0004c0004t0003 a0004c0004t0011 others(2): Show a0003c0003t0001 a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 a0004c0006t0011	a0003c0003t0001g0092 a0003c0003t0001g0118 a0004c0004t0003g0105 others(22): Show a0003c0003t0001g0092 a0003c0003t0001g0118 a0004c0004t0003g0105 a0004c0004t0003g0232 a0004c0004t0003g0234 a0004c0004t0003g0235 a0004c0004t0003g0236 a0004c0004t0003g0237 a0004c0004t0003g0238 a0004c0004t0003g0239 a0004c0004t0003g0280 a0004c0004t0011g0316 a0004c0006t0003g0033 a0004c0006t0003g0034 a0004c0006t0003g0044 a0004c0006t0003g0045 a0004c0006t0003g0050 a0004c0006t0003g0053 a0004c0006t0003g0054 a0004c0006t0003g0104 a0004c0006t0003g0121 a0004c0006t0003g0122 a0004c0006t0003g0152 a0004c0006t0003g0269 a0004c0006t0011g0330	25	348	0.0718	10	c.336 others(29): Show c.3363+1235_3363+1236insATATGTATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69162840	T T	TATACATA others(3): Show TATACATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03098.hp1 HG01891.hp1 HG03098.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0006 a0010c0010t0006	a0010c0010t0006g0140 a0010c0010t0006g0194 a0010c0010t0006g0140 a0010c0010t0006g0194	2	348	0.0058	10	c.336 others(29): Show c.3363+1233_3363+1234insGTATATGTAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69208417	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0006 a0010c0010t0006	a0010c0010t0006g0194 a0010c0010t0006g0194	1	348	0.0029	10	c.100 others(29): Show c.1006+6277_1006+6286dupTTTTTTTTTT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210847	C C	CACATATA others(3): Show CACATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03098.hp2 HG03225.hp1 others(2): Show HG02451.hp2 HG03098.hp2 HG03225.hp1 HG03579.hp1 HG06807.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0009 a0008c0009t0009	a0008c0009t0009g0004 a0008c0009t0009g0226 a0008c0009t0009g0244 others(1): Show a0008c0009t0009g0004 a0008c0009t0009g0226 a0008c0009t0009g0244 a0008c0009t0009g0245	5	348	0.0144	10	c.100 others(29): Show c.1006+3856_1006+3857insATATATATGT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69211314	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	348	0.0029	10	c.100 others(29): Show c.1006+3380_1006+3389dupATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69227114	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 NA18942.hp2 others(2): Show HG02451.hp1 HG02723.hp1 NA18942.hp2 NA18977.hp1 NA19078.hp1	a0002 a0003 a0013 a0002 a0003 a0013	a0002c0002 a0003c0003 a0013c0021 a0002c0002 a0003c0003 a0013c0021	a0002c0002t0001 a0003c0003t0001 a0013c0021t0006 a0002c0002t0001 a0003c0003t0001 a0013c0021t0006	a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 others(2): Show a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0003c0003t0001g0127 a0013c0021t0006g0305	5	348	0.0144	10	c.-17 others(25): Show c.-172+21_-172+30dupATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	2/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214931084	C C	CATATATA others(3): Show CATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01071.hp1 others(5): Show HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01255.hp1 HG02257.hp1 HG02451.hp1 HG03710.hp2 HG06807.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0009 a0001c0023 a0001c0025 others(4): Show a0001c0009 a0001c0023 a0001c0025 a0003c0014 a0003c0020 a0004c0018 a0009c0026	a0001c0009t0003 a0001c0023t0003 a0001c0025t0003 others(4): Show a0001c0009t0003 a0001c0023t0003 a0001c0025t0003 a0003c0014t0006 a0003c0020t0003 a0004c0018t0008 a0009c0026t0003	a0001c0009t0003g0157 a0001c0023t0003g0024 a0001c0025t0003g0064 others(5): Show a0001c0009t0003g0157 a0001c0023t0003g0024 a0001c0025t0003g0064 a0003c0014t0006g0107 a0003c0020t0003g0108 a0004c0018t0008g0196 a0009c0026t0003g0053 a0009c0026t0003g0056	8	198	0.0404	10	c.15 others(21): Show c.1549_*1550insATATATATAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding		457		chr2	TogoVar
ABCA12_chr2_214926542_215143626	214949375	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03139.hp2 HG03516.hp1 others(1): Show HG01243.hp1 HG03139.hp2 HG03516.hp1 NA19240.hp1	a0002 a0004 a0002 a0004	a0002c0007 a0002c0013 a0004c0060 a0002c0007 a0002c0013 a0004c0060	a0002c0007t0006 a0002c0013t0018 a0004c0060t0006 a0002c0007t0006 a0002c0013t0018 a0004c0060t0006	a0002c0007t0006g0175 a0002c0007t0006g0176 a0002c0013t0018g0002 others(1): Show a0002c0007t0006g0175 a0002c0007t0006g0176 a0002c0013t0018g0002 a0004c0060t0006g0080	4	198	0.0202	10	c.685 others(27): Show c.6853-227_6853-226insGTGTGTGTGT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	45/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214949377	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0006 a0003c0014t0006	a0003c0014t0006g0098 a0003c0014t0006g0098	1	198	0.0051	10	c.685 others(27): Show c.6853-238_6853-229dupGTGTGTGTGT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	45/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATACATA others(3): Show CATACATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0054 a0001c0004t0001g0054	1	198	0.0051	10	c.382 others(27): Show c.3829+141_3829+142insATATATGTAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215016582	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02155.hp1 HG03130.hp1 HG01934.hp2 HG02155.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0068 a0001c0004 a0001c0006 a0001c0068	a0001c0004t0001 a0001c0006t0002 a0001c0068t0003 a0001c0004t0001 a0001c0006t0002 a0001c0068t0003	a0001c0004t0001g0115 a0001c0006t0002g0135 a0001c0068t0003g0016 a0001c0004t0001g0115 a0001c0006t0002g0135 a0001c0068t0003g0016	3	198	0.0152	10	c.178 others(27): Show c.1783-929_1783-920dupTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	14/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215020292	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02572.hp2 HG02630.hp1 others(3): Show HG01255.hp2 HG02572.hp2 HG02630.hp1 HG02886.hp1 HG02922.hp2 NA19066.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0002 a0002c0017 a0005c0062 others(3): Show a0001c0002 a0002c0017 a0005c0062 a0005c0063 a0005c0064 a0007c0024	a0001c0002t0001 a0002c0017t0009 a0005c0062t0004 others(3): Show a0001c0002t0001 a0002c0017t0009 a0005c0062t0004 a0005c0063t0003 a0005c0064t0004 a0007c0024t0005	a0001c0002t0001g0058 a0002c0017t0009g0007 a0005c0062t0004g0078 others(3): Show a0001c0002t0001g0058 a0002c0017t0009g0007 a0005c0062t0004g0078 a0005c0063t0003g0079 a0005c0064t0004g0070 a0007c0024t0005g0094	6	198	0.0303	10	c.128 others(27): Show c.1288-506_1288-497dupTGTGTGTGTG	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	11/52			chr2	TogoVar

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