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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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
CFI_chr4_109735695_109806999	109753233	A A	AAATAAAT others(24): Show AAATAAATATTTATAATATATATTTATTATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp2 HG01891.hp2 HG02647.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0001 a0003c0004t0002	a0003c0004t0001g0020 a0003c0004t0002g0029 a0003c0004t0001g0020 a0003c0004t0002g0029	2	354	0.0057	31	c.905 others(46): Show c.905-761_905-731dupATATAATAAATATATATTATAAATATTTAT T	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109756888	G G	GGAAAGAA others(24): Show GGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	354	0.0028	31	c.904 others(46): Show c.904+874_904+875insTTTCTTTCTTTCTTTCTTTCTTTCTTCTTT C	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFTR_chr7_117475025_117673665	117636910	T T	TGGGTTCA others(24): Show TGGGTTCAAGTGATTCTCCTCCTCAGCCTCCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02280.hp1 HG01433.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0003 a0001c0001t0002g0004	2	202	0.0099	31	c.371 others(50): Show c.3718-5527_3718-5497dupGGGTTCAAGTGATTCTCCTCCTCAGC CTCCC	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0008 a0001c0002t0008g0008	1	410	0.0024	31	c.-13 others(42): Show c.-1388_-1387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02818.hp1 HG03041.hp1 others(4): Show HG00733.hp2 HG02818.hp1 HG03041.hp1 HG03834.hp1 NA18954.hp2 NA18971.hp2 NA21309.hp1	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0001 a0002c0002 a0002c0008 others(1): Show a0001c0001 a0002c0002 a0002c0008 a0018c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0003 a0002c0008t0003 a0018c0034t0004	a0001c0001t0001g0232 a0001c0001t0001g0247 a0001c0001t0002g0033 others(4): Show a0001c0001t0001g0232 a0001c0001t0001g0247 a0001c0001t0002g0033 a0001c0001t0004g0057 a0002c0002t0003g0242 a0002c0008t0003g0202 a0018c0034t0004g0035	7	294	0.0238	31	c.-16 others(50): Show c.-16+17537_-16+17538insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GGAAAAAA others(24): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01928.hp2 others(1): Show HG00642.hp2 HG01070.hp2 HG01928.hp2 HG02040.hp1	a0001 a0002 a0020 a0001 a0002 a0020	a0001c0005 a0002c0002 a0002c0008 others(1): Show a0001c0005 a0002c0002 a0002c0008 a0020c0020	a0001c0005t0002 a0002c0002t0002 a0002c0008t0003 others(1): Show a0001c0005t0002 a0002c0002t0002 a0002c0008t0003 a0020c0020t0003	a0001c0005t0002g0215 a0002c0002t0002g0093 a0002c0008t0003g0015 others(1): Show a0001c0005t0002g0215 a0002c0002t0002g0093 a0002c0008t0003g0015 a0020c0020t0003g0253	4	294	0.0136	31	c.169 others(48): Show c.1698-191_1698-190insGAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18			chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(24): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0097 a0001c0002t0002g0097	1	352	0.0028	31	c.-12 others(48): Show c.-12+1922_-12+1923insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116924	T T	TCTCTCTC others(24): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0283 a0001c0001t0006g0283	1	352	0.0028	31	c.-12 others(48): Show c.-12+1921_-12+1922insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0135 a0001c0022t0001g0135	1	384	0.0026	31	c.104 others(46): Show c.104-412_104-411insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4427136	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0338 a0003c0004t0002g0338	1	384	0.0026	31	c.137 others(50): Show c.1378-1527_1378-1497dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(24): Show TGTGTGTGTGCGCGCGCGCGCGCGCGCTGCGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	346	0.0029	31	c.260 others(48): Show c.260-1750_260-1749insTGTGTGTGCGCGCGCGCGCGCGCGCTGC GCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHCHD3_chr7_132779870_133087090	132824314	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	310	0.0032	31	c.524 others(50): Show c.524+14084_524+14085insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	6/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	133006263	A A	AGAGACCA others(24): Show AGAGACCAGCCTGACCAACATGATGAAACCCT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	310	0.0032	31	c.251 others(50): Show c.251+18252_251+18282dupAGGGTTTCATCATGTTGGTCAGGCTG GTCTC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	216	0.0046	31	c.412 others(50): Show c.412-28066_412-28065insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0052 a0001c0003t0006g0052	1	334	0.0030	31	c.54- others(46): Show c.54-6049_54-6048insATATATATATATATATATATATATATATAT A	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD3_chr17_7883789_7917755	7893969	G G	GGGGCCAA others(24): Show GGGGCCAAGGATCCAGAGACAGGGATCCGTGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00423.hp2 others(86): Show HG00099.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp2 HG03017.hp1 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18982.hp2 NA18984.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19087.hp1 NA19087.hp2 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0009 a0005c0018	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0001c0004t0003 a0001c0007t0001 a0002c0009t0002 a0005c0018t0008	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0016 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0102 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0006g0001 a0001c0001t0007g0017 a0001c0003t0001g0059 a0001c0003t0001g0153 a0001c0004t0003g0158 a0001c0004t0003g0159 a0001c0004t0003g0190 a0001c0007t0001g0007 a0002c0009t0002g0202 a0005c0018t0008g0201	89	366	0.2432	31	c.924 others(44): Show c.924+69_925-81dupCCAAGGATCCAGAGACAGGGATCCGTGAGGG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATATAT others(24): Show GTATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	238	0.0042	31	c.-16 others(50): Show c.-164-9489_-164-9488insTATATATATATAATATATATATATAT ATATA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146437	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	238	0.0042	31	c.-16 others(50): Show c.-164-9489_-164-9488insTATATATATATATATATATATATATA TATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38			chr16	TogoVar
CHL1_chr3_191763_414417	239595	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0043 a0007c0006t0001g0043	1	290	0.0035	31	c.-17 others(50): Show c.-174-5018_-174-5017insTATATATATATATATATATATATATA TATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27			chr3	TogoVar
CHL1_chr3_191763_414417	319117	C C	CGGACATA others(24): Show CGGACATAAAGATAAGAATAATAGAATATTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00558.hp2 others(34): Show HG00099.hp1 HG00558.hp1 HG00558.hp2 HG00738.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03942.hp2 NA18952.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0009 a0010 a0012 a0013 a0020 a0026	a0001c0001 a0002c0002 a0003c0003 others(8): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0008 a0009c0010 a0010c0009 a0012c0012 a0013c0021 a0020c0023 a0026c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0041 a0002c0002t0056 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0058 a0004c0004t0001 a0006c0008t0020 a0006c0008t0024 a0009c0010t0001 a0009c0010t0002 a0010c0009t0047 a0012c0012t0001 a0013c0021t0001 a0020c0023t0017 a0026c0014t0053	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(34): Show a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0002g0119 a0001c0001t0003g0262 a0001c0001t0005g0160 a0002c0002t0001g0125 a0002c0002t0001g0146 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0222 a0002c0002t0001g0275 a0002c0002t0002g0095 a0002c0002t0004g0008 a0002c0002t0004g0010 a0002c0002t0007g0244 a0002c0002t0041g0280 a0002c0002t0056g0040 a0003c0003t0001g0106 a0003c0003t0002g0096 a0003c0003t0002g0102 a0003c0003t0004g0009 a0003c0003t0004g0223 a0003c0003t0058g0208 a0004c0004t0001g0288 a0006c0008t0020g0038 a0006c0008t0024g0252 a0006c0008t0024g0253 a0009c0010t0001g0047 a0009c0010t0002g0035 a0010c0009t0047g0011 a0012c0012t0001g0141 a0013c0021t0001g0234 a0020c0023t0017g0287 a0026c0014t0053g0042	37	290	0.1276	31	c.-94 others(46): Show c.-94-507_-94-477dupTTATGGACATAAAGATAAGAATAATAGAAT A	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	319160	T T	TAAGAATA others(24): Show TAAGAATAATAGAATATTATGGACATAAAGAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02258.hp2 HG02486.hp1 others(10): Show HG01952.hp1 HG02258.hp2 HG02486.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp1 HG03225.hp1 HG03540.hp1 NA20129.hp2	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0018	a0002c0002 a0003c0003 a0006c0024 others(1): Show a0002c0002 a0003c0003 a0006c0024 a0018c0025	a0002c0002t0002 a0002c0002t0023 a0003c0003t0001 others(6): Show a0002c0002t0002 a0002c0002t0023 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0005 a0003c0003t0011 a0006c0024t0013 a0018c0025t0017	a0002c0002t0002g0250 a0002c0002t0023g0145 a0003c0003t0001g0109 others(10): Show a0002c0002t0002g0250 a0002c0002t0023g0145 a0003c0003t0001g0109 a0003c0003t0001g0219 a0003c0003t0001g0249 a0003c0003t0003g0014 a0003c0003t0004g0284 a0003c0003t0004g0285 a0003c0003t0005g0006 a0003c0003t0011g0143 a0003c0003t0011g0225 a0006c0024t0013g0037 a0018c0025t0017g0213	13	290	0.0448	31	c.-94 others(46): Show c.-94-493_-94-492insCAAGAATAATAGAATATTATGGACATAAAG A	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP4A_chr14_24204615_24218488	24209057	G G	GAAAGCTA others(24): Show GAAAGCTACTTGCTCCTTCCATTCCAAGTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00597.hp1 others(53): Show HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG01123.hp1 HG01243.hp2 HG02027.hp2 HG02040.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02523.hp1 HG02572.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03540.hp1 HG03669.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18959.hp1 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19058.hp2 NA19065.hp2 NA19068.hp1 NA19072.hp2 NA19085.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(12): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0061 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0047 a0002c0002t0001g0053	56	418	0.1340	31	c.81 others(40): Show c.819_*820insGCTACTTGGAATGGAAGGAGCAAGTAGCTTT	CHMP4A	ENSG00000254505.11	transcript	ENST00000347519.12	protein_coding		557		chr14	TogoVar
CHMP4A_chr14_24204615_24218488	24209057	G G	GAAAGCTA others(24): Show GAAAGCTACTTGCTCCTTCCATTCCGAGTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp2 others(68): Show HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01346.hp2 HG01361.hp2 HG01884.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02683.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18965.hp2 NA18967.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18989.hp2 NA18994.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19006.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19059.hp1 NA19072.hp1 NA19077.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0017 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0004g0040	71	418	0.1699	31	c.81 others(40): Show c.819_*820insGCTACTCGGAATGGAAGGAGCAAGTAGCTTT	CHMP4A	ENSG00000254505.11	transcript	ENST00000347519.12	protein_coding		557		chr14	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20300.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0215 a0001c0001t0013g0102 a0001c0001t0001g0215 a0001c0001t0013g0102	2	245	0.0082	31	c.83 others(42): Show c.8340_*8341insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	232	0.0043	31	c.49+ others(48): Show c.49+57616_49+57617insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29442934	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0173 a0001c0002t0005g0173	1	232	0.0043	31	c.577 others(50): Show c.577-37328_577-37327insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHODL_chr21_18239833_18272370	18248895	A A	AATACATA others(24): Show AATACATATATATGTATAATACATATATATGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02109.hp1 HG02630.hp2 others(11): Show HG00609.hp1 HG02109.hp1 HG02630.hp2 HG03225.hp1 HG03471.hp1 HG03540.hp2 HG03669.hp1 NA18522.hp2 NA18949.hp1 NA18955.hp1 NA18991.hp1 NA19004.hp2 NA19058.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0001t0018	a0001c0001t0001g0015 a0001c0001t0001g0068 a0001c0001t0001g0069 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0299 a0001c0001t0006g0297 a0001c0001t0016g0294 a0001c0001t0018g0298	14	402	0.0348	31	c.79+ others(46): Show c.79+3606_79+3636dupGTATAATACATATATATGTATACATATATA T	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18248914	T T	TACATATA others(24): Show TACATATATATGTATACATATATATGTATAAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0303 a0001c0001t0031g0303	1	402	0.0025	31	c.79+ others(46): Show c.79+3636_79+3637insGTATAACACATATATATGTATACATATATA T	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHRM3_chr1_239381568_239920450	239383054	G G	GTCTCTCT others(24): Show GTCTCTCTCTTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	116	0.0086	31	c.-46 others(42): Show c.-4694_-4693insTCTCTCTCTTCTCTCTCTCTCTCTCTCTCTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		3513		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239385815	C C	CTCTTTCT others(24): Show CTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG02723.hp1 NA18955.hp2 others(1): Show HG01515.hp2 HG02723.hp1 NA18955.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 others(1): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017	a0001c0001t0007g0055 a0001c0001t0010g0110 a0001c0001t0012g0028 others(1): Show a0001c0001t0007g0055 a0001c0001t0010g0110 a0001c0001t0012g0028 a0001c0001t0017g0004	4	116	0.0345	31	c.-19 others(42): Show c.-1933_-1932insTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		752		chr1	TogoVar
CHRNA2_chr8_27454756_27484261	27480467	A A	AGAAAAGG others(24): Show AGAAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0055 a0003c0003t0055	a0003c0003t0055g0271 a0003c0003t0055g0271	1	458	0.0022	31	c.-17 others(42): Show c.-1781_-1780insCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTC	CHRNA2	ENSG00000120903.13	transcript	ENST00000407991.3	protein_coding		1207		chr8	TogoVar
CHRNA5_chr15_78560520_78600269	78570424	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0221 a0001c0001t0017g0221	1	382	0.0026	31	c.106 others(48): Show c.106+4624_106+4625insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 homoSapiens_chm13v2.hp1 NA18999.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0162 a0001c0001t0002g0163	2	282	0.0071	31	c.53- others(46): Show c.53-5281_53-5280insAAAAAAAAAAATATATATATATATATATAT A	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01258.hp1 HG02109.hp1 others(1): Show HG01070.hp2 HG01258.hp1 HG02109.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0168 a0001c0001t0002g0169 others(1): Show a0001c0001t0002g0159 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170	4	282	0.0142	31	c.53- others(46): Show c.53-5281_53-5280insAAAAAAAAATATATATATATATATATATAT A	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18944.hp2 NA18948.hp2 HG00423.hp2 NA18944.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0201 a0001c0001t0002g0245 a0001c0001t0002g0154 a0001c0001t0002g0201 a0001c0001t0002g0245	3	282	0.0106	31	c.53- others(46): Show c.53-5281_53-5280insAAAAAAATATATATATATATATATATATAT A	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18948.hp1 NA18999.hp2 others(2): Show HG00597.hp1 NA18948.hp1 NA18999.hp2 NA19055.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0217 a0001c0001t0002g0218 others(1): Show a0001c0001t0002g0005 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219	5	282	0.0177	31	c.53- others(46): Show c.53-5281_53-5280insAAAAATATATATATATATATATATATATAT A	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42717403	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01071.hp1 NA19065.hp1 HG00673.hp2 HG01071.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0150 a0001c0001t0002g0221 a0001c0001t0002g0223	3	282	0.0106	31	c.249 others(48): Show c.249+6971_249+6972insAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHST11_chr12_104451948_104767014	104544138	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	240	0.0042	31	c.119 others(50): Show c.119-57766_119-57765insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST15_chr10_124002668_124098598	124045112	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	392	0.0026	31	c.547 others(46): Show c.547-224_547-194dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	2/7			chr10	TogoVar
CIP2A_chr3_108544864_108594438	108553894	T T	TACAAAAA others(24): Show TACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01943.hp2 HG02145.hp2 others(1): Show HG00741.hp1 HG01943.hp2 HG02145.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0093 a0001c0001t0001g0216 a0001c0001t0001g0217 others(1): Show a0001c0001t0001g0093 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0004g0323	4	372	0.0108	31	c.232 others(48): Show c.2325-165_2325-164insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	18/20			chr3	TogoVar
CIR1_chr2_174343022_174400712	174354615	A A	ATTTTATA others(24): Show ATTTTATATATTATATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02647.hp1 HG02809.hp1 others(6): Show HG00735.hp1 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03225.hp2 NA19030.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0010 a0002c0002t0003g0037 a0002c0002t0003g0050 others(5): Show a0002c0002t0003g0010 a0002c0002t0003g0037 a0002c0002t0003g0050 a0002c0002t0003g0052 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0059	9	348	0.0259	31	c.485 others(48): Show c.485-2921_485-2891dupATATATAATATATATTATATAATATATA AAA	CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9			chr2	TogoVar
CKAP4_chr12_106232881_106253020	106237526	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01123.hp1 HG02015.hp1 others(4): Show HG00558.hp2 HG01123.hp1 HG02015.hp1 HG02071.hp1 NA18945.hp2 NA19003.hp2 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0002 a0002c0002t0002g0118 a0002c0002t0003g0003 a0002c0002t0002g0002 a0002c0002t0002g0118 a0002c0002t0003g0003	7	418	0.0168	31	c.14 others(42): Show c.1497_*1498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding		354		chr12	TogoVar
CKMT2_chr5_81228322_81271398	81250940	A A	ACACACAC others(24): Show ACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0077 a0001c0001t0004g0077	1	356	0.0028	31	c.-20 others(46): Show c.-20-173_-20-172insCACACACACACACACACACACACACACACA C	CKMT2	ENSG00000131730.16	transcript	ENST00000254035.9	protein_coding	1/9			chr5	TogoVar
CLASP2_chr3_33491245_33723254	33568553	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19030.hp1 NA18979.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0042 a0001c0001t0004g0229 a0001c0001t0003g0042 a0001c0001t0004g0229	2	278	0.0072	31	c.276 others(50): Show c.2764-1820_2764-1819insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	26/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33571015	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03491.hp2 HG02083.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0058 a0001c0001t0002g0063	2	278	0.0072	31	c.270 others(48): Show c.2700-226_2700-225insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	25/38			chr3	TogoVar
CLBA1_chr14_104980788_105000516	104993994	C C	CTGCCCCC others(24): Show CTGCCCCCAGCTGACATGGGGTGGGTTCCAGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02155.hp1 NA18747.hp2 HG02132.hp2 HG02155.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0058 a0001c0001t0003g0030 a0001c0001t0003g0058	3	444	0.0068	31	c.817 others(46): Show c.817-576_817-575insAGGTGCCCCCAGCTGACATGGGGTGGGTTC C	CLBA1	ENSG00000140104.14	transcript	ENST00000547315.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
CLCN7_chr16_1439935_1480028	1450328	C C	CAGGACAA others(24): Show CAGGACAACGCCCACGGCCCGTGAACCACGCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00735.hp1 others(17): Show HG00639.hp1 HG00642.hp2 HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01192.hp1 HG01192.hp2 HG01516.hp1 HG01978.hp1 HG01981.hp2 HG02698.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03579.hp1 NA18522.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0002 a0002	a0002c0006 a0002c0011 a0002c0012 others(1): Show a0002c0006 a0002c0011 a0002c0012 a0002c0026	a0002c0006t0010 a0002c0006t0024 a0002c0006t0025 others(6): Show a0002c0006t0010 a0002c0006t0024 a0002c0006t0025 a0002c0006t0026 a0002c0006t0051 a0002c0006t0052 a0002c0011t0018 a0002c0012t0014 a0002c0026t0024	a0002c0006t0010g0010 a0002c0006t0010g0255 a0002c0006t0010g0256 others(16): Show a0002c0006t0010g0010 a0002c0006t0010g0255 a0002c0006t0010g0256 a0002c0006t0010g0257 a0002c0006t0010g0258 a0002c0006t0024g0263 a0002c0006t0025g0260 a0002c0006t0025g0266 a0002c0006t0026g0261 a0002c0006t0026g0262 a0002c0006t0051g0259 a0002c0006t0052g0264 a0002c0011t0018g0254 a0002c0011t0018g0270 a0002c0011t0018g0271 a0002c0012t0014g0015 a0002c0012t0014g0016 a0002c0012t0014g0017 a0002c0026t0024g0309	20	404	0.0495	31	c.161 others(48): Show c.1617+138_1617+168dupCGCGTGGTTCACGGGCCGTGGGCGTTGT CCT	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	17/24			chr16	TogoVar
CLDN19_chr1_42728093_42745236	42729451	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	31	c.56 others(42): Show c.5634_*5635insATATATATATATATATATATATATATATATA	CLDN19	ENSG00000164007.11	transcript	ENST00000296387.6	protein_coding		3641		chr1	TogoVar
CLEC16A_chr16_10939564_11187186	10940668	G G	GCCTCTCT others(24): Show GCCTCTCTTCCTTGTGACTATGACCAAGTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0154 a0001c0001t0031g0154	1	274	0.0037	31	c.-40 others(42): Show c.-4050_-4049insCCTCTCTTCCTTGTGACTATGACCAAGTCTT	CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding		3895		chr16	TogoVar
CLEC4A_chr12_8118617_8143607	8135047	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	458	0.0022	31	c.299 others(46): Show c.299-516_299-515insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CLEC4A	ENSG00000111729.15	transcript	ENST00000229332.12	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar

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