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
CFAP97D2_chr13_114174257_114228085	114199863	C C	CGTACGGT others(32): Show CGTACGGTCCCCGCTGAGGCGTGACGGGGCGTCCCCGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	400	0.0025	39	c.172 others(54): Show c.172-462_172-461insGTACGGTCCCCGCTGAGGCGTGACGGGGCG TCCCCGTGT	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199863	C C	CGTACGGT others(32): Show CGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	400	0.0025	39	c.172 others(54): Show c.172-462_172-461insGTACGGTCCCCGCTGAGGGGTGACGGCGCG TCCCCGTGG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199955	T T	TGAGGGGT others(32): Show TGAGGGGTGACAGTGGGTCCCTGTGTGTTCGGTCCCCGCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03704.hp2 HG03831.hp2 others(3): Show HG03491.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 others(3): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0101	6	400	0.0150	39	c.172 others(54): Show c.172-366_172-365insGGTGACAGTGGGTCCCTGTGTGTTCGGTCC CCGCCGAGG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199960	C C	CGTGACGG others(32): Show CGTGACGGCGCGTCCCCGTGTGTACGGTCCCCACTGAGGG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0330 a0001c0001t0002g0330	1	400	0.0025	39	c.172 others(54): Show c.172-346_172-345insTGTACGGTCCCCACTGAGGGGTGACGGCGC GTCCCCGTG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199981	T T	TTATGGTC others(32): Show TTATGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02004.hp2 HG02040.hp2 others(2): Show HG01993.hp1 HG02004.hp2 HG02040.hp2 NA19063.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0340 a0001c0001t0006g0341 a0001c0001t0006g0342 others(2): Show a0001c0001t0006g0340 a0001c0001t0006g0341 a0001c0001t0006g0342 a0001c0001t0006g0347 a0001c0001t0006g0348	5	400	0.0125	39	c.172 others(54): Show c.172-342_172-341insTGGTCCCCGCTGAGGGGTGACGGCGCGTCC CCGTGTGTA	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	314	0.0032	39	c.651 others(58): Show c.651-44503_651-44502insATATATATATATATATATATATATAT ATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0266	1	314	0.0032	39	c.651 others(58): Show c.651-44505_651-44504insATATATATATATATATATATATATAT ATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFTR_chr7_117475025_117673665	117611933	G G	GTTTATTA others(32): Show GTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	202	0.0050	39	c.336 others(56): Show c.3367+132_3367+170dupATTGAACAAGTGATTTCTTTGAATTTCC ATTGTTTTATT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(32): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0104	1	352	0.0028	39	c.-12 others(56): Show c.-12+1922_-12+1923insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116924	T T	TCTCTCTC others(32): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG04228.hp2 NA19086.hp2 HG02155.hp1 HG04228.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0177 a0001c0001t0001g0289 a0001c0001t0001g0295	3	352	0.0085	39	c.-12 others(56): Show c.-12+1921_-12+1922insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(32): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCAGCGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	346	0.0029	39	c.260 others(56): Show c.260-1750_260-1749insTGTGTGTGTGTGTGCGCGCGCGCGCGCG CGCGCAGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	216	0.0046	39	c.412 others(58): Show c.412-28066_412-28065insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126862665	C C	CTCCTCCA others(32): Show CTCCTCCACCATCACCACCTCCTCCTCCACCATCACCTCT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	216	0.0046	39	c.495 others(56): Show c.495+9956_495+9957insTCCTCCACCATCACCTCTTCCTCCACCA TCACCACCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126865050	A A	ACCTCCTC others(32): Show ACCTCCTCCTCCTCCTTTTCCACCACCTCCACTTCTTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	216	0.0046	39	c.495 others(58): Show c.495+12332_495+12370dupTCCTTTTCCACCACCTCCACTTCTTC CTCCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126865085	T T	TTCCTCCT others(32): Show TTCCTCCTCCTCCTCCACCACCACCTCCACTTCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 homoSapiens_chm13v2.hp1 HG01081.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0213 a0001c0001t0001g0189 a0001c0001t0001g0213	2	216	0.0093	39	c.495 others(58): Show c.495+12368_495+12406dupTCCACCACCACCTCCACTTCTTCCTC CTCCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	ATCTATAT others(32): Show ATCTATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0008 a0002c0002t0007g0008	1	334	0.0030	39	c.54- others(54): Show c.54-6049_54-6048insATATATATATATATATATATATATATATAT ATATATAGA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD3_chr17_7883789_7917755	7885307	C C	CCCGCCGC others(32): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	366	0.0027	39	c.-36 others(50): Show c.-3694_-3693insCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGCCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3481		chr17	TogoVar
CHD9NB_chr16_53036484_53057897	53052995	G G	GCTCCTCC others(32): Show GCTCCTCCTCCTGCTCTTCCTCCTCCTCCTGCTCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(94): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00735.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01243.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02135.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp2 NA18967.hp1 NA18968.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18989.hp1 NA18994.hp2 NA18997.hp2 NA19001.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(17): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0042 a0001c0001t0053 a0001c0001t0065	a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0017 others(57): Show a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0006g0018 a0001c0001t0006g0078 a0001c0001t0006g0083 a0001c0001t0006g0094 a0001c0001t0006g0098 a0001c0001t0008g0025 a0001c0001t0008g0059 a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0008g0065 a0001c0001t0008g0069 a0001c0001t0008g0073 a0001c0001t0009g0028 a0001c0001t0009g0033 a0001c0001t0009g0080 a0001c0001t0009g0081 a0001c0001t0010g0019 a0001c0001t0010g0064 a0001c0001t0010g0092 a0001c0001t0013g0029 a0001c0001t0013g0071 a0001c0001t0015g0042 a0001c0001t0015g0152 a0001c0001t0015g0158 a0001c0001t0016g0024 a0001c0001t0016g0087 a0001c0001t0017g0031 a0001c0001t0017g0075 a0001c0001t0020g0096 a0001c0001t0025g0072 a0001c0001t0026g0086 a0001c0001t0027g0085 a0001c0001t0032g0088 a0001c0001t0033g0089 a0001c0001t0034g0090 a0001c0001t0035g0060 a0001c0001t0042g0099 a0001c0001t0053g0165 a0001c0001t0065g0068	97	406	0.2389	39	c.-42 others(48): Show c.-420_-419insGAGGAAGAGCAGGAGGAGGAGGAAGAGCAGGAGGAG GAG	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding		99		chr16	TogoVar
CHD9NB_chr16_53036484_53057897	53052995	G G	GCTCCTCC others(32): Show GCTCCTCCTCCTGCTCTTCTTCCTCCTCCTGCTCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02145.hp1 others(20): Show HG01884.hp1 HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02818.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(10): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044	a0001c0001t0002g0055 a0001c0001t0002g0104 a0001c0001t0002g0106 others(19): Show a0001c0001t0002g0055 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0118 a0001c0001t0006g0116 a0001c0001t0010g0058 a0001c0001t0012g0032 a0001c0001t0012g0102 a0001c0001t0012g0105 a0001c0001t0012g0107 a0001c0001t0018g0111 a0001c0001t0018g0112 a0001c0001t0018g0114 a0001c0001t0019g0115 a0001c0001t0023g0057 a0001c0001t0037g0103 a0001c0001t0038g0101 a0001c0001t0040g0117 a0001c0001t0041g0056 a0001c0001t0043g0113 a0001c0001t0044g0110	23	406	0.0567	39	c.-42 others(48): Show c.-420_-419insGAGGAAGAGCAGGAGGAGGAAGAAGAGCAGGAGGAG GAG	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding		99		chr16	TogoVar
CHD9_chr16_53049991_53332497	53052995	G G	GCTCCTCC others(32): Show GCTCCTCCTCCTGCTCTTCCTCCTCCTCCTGCTCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(68): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00735.hp1 HG01109.hp1 HG01167.hp2 HG01243.hp1 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02135.hp2 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA18962.hp2 NA18981.hp2 NA18982.hp1 NA18989.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp1 NA19074.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0012 a0001c0016 a0001c0017 a0002c0002 a0003c0004 a0004c0006 a0009c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0003t0001 a0001c0003t0002 a0001c0005t0004 a0001c0005t0005 a0001c0005t0011 a0001c0005t0012 a0001c0012t0001 a0001c0016t0002 a0001c0017t0002 a0002c0002t0001 a0002c0002t0008 a0003c0004t0001 a0004c0006t0001 a0009c0018t0005	a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0159 others(68): Show a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0003g0105 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0139 a0001c0001t0003g0183 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0007g0122 a0001c0003t0001g0158 a0001c0003t0002g0125 a0001c0003t0002g0142 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0161 a0001c0003t0002g0224 a0001c0005t0004g0104 a0001c0005t0004g0231 a0001c0005t0004g0232 a0001c0005t0004g0233 a0001c0005t0004g0234 a0001c0005t0004g0235 a0001c0005t0004g0236 a0001c0005t0004g0238 a0001c0005t0005g0135 a0001c0005t0005g0151 a0001c0005t0011g0228 a0001c0005t0012g0229 a0001c0012t0001g0132 a0001c0016t0002g0156 a0001c0017t0002g0237 a0002c0002t0001g0095 a0002c0002t0001g0108 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0008g0137 a0003c0004t0001g0123 a0003c0004t0001g0134 a0003c0004t0001g0141 a0003c0004t0001g0143 a0003c0004t0001g0148 a0003c0004t0001g0157 a0003c0004t0001g0162 a0004c0006t0001g0121 a0004c0006t0001g0127 a0004c0006t0001g0128 a0009c0018t0005g0155	71	238	0.2983	39	c.-22 others(50): Show c.-2247_-2246insCTCCTCCTCCTGCTCTTCCTCCTCCTCCTGCTCT TCCTC	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding		1995		chr16	TogoVar
CHD9_chr16_53049991_53332497	53052995	G G	GCTCCTCC others(32): Show GCTCCTCCTCCTGCTCTTCTTCCTCCTCCTGCTCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02257.hp1 others(13): Show HG01884.hp1 HG01891.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG06807.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0005t0004 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 others(13): Show a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0003g0167 a0001c0001t0003g0172 a0001c0001t0003g0176 a0001c0003t0002g0170 a0001c0005t0004g0097 a0001c0005t0004g0169 a0002c0002t0001g0102 a0002c0002t0001g0106 a0002c0002t0001g0113 a0003c0004t0001g0177	16	238	0.0672	39	c.-22 others(50): Show c.-2247_-2246insCTCCTCCTCCTGCTCTTCTTCCTCCTCCTGCTCT TCCTC	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding		1995		chr16	TogoVar
CHFR_chr12_132827356_132892605	132869046	T T	TCGAGGGG others(32): Show TCGAGGGGAAGGGGACATGGGGAGTGACTGCTGGTGGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(128): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02015.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp1 NA18747.hp1 NA18906.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18973.hp1 NA18975.hp1 NA18980.hp2 NA18984.hp1 NA18990.hp2 NA18998.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19066.hp2 NA19083.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0002c0007 others(3): Show a0001c0001 a0002c0002 a0002c0007 a0002c0011 a0003c0003 a0006c0014	a0001c0001t0072 a0002c0002t0002 a0002c0002t0004 others(40): Show a0001c0001t0072 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047 a0002c0002t0121 a0002c0002t0122 a0002c0002t0123 a0002c0002t0125 a0002c0002t0126 a0002c0002t0127 a0002c0002t0128 a0002c0002t0129 a0002c0002t0130 a0002c0002t0132 a0002c0002t0136 a0002c0002t0137 a0002c0002t0138 a0002c0002t0140 a0002c0002t0141 a0002c0002t0142 a0002c0007t0002 a0002c0011t0124 a0003c0003t0001 a0003c0003t0013 a0003c0003t0019 a0003c0003t0020 a0003c0003t0037 a0003c0003t0061 a0003c0003t0062 a0003c0003t0063 a0003c0003t0064 a0003c0003t0065 a0003c0003t0066 a0003c0003t0067 a0003c0003t0068 a0003c0003t0069 a0006c0014t0002	a0001c0001t0072g0352 a0002c0002t0002g0009 a0002c0002t0002g0045 others(123): Show a0001c0001t0072g0352 a0002c0002t0002g0009 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0055 a0002c0002t0002g0062 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0094 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0113 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0122 a0002c0002t0004g0006 a0002c0002t0004g0054 a0002c0002t0004g0070 a0002c0002t0004g0074 a0002c0002t0004g0075 a0002c0002t0004g0077 a0002c0002t0004g0108 a0002c0002t0004g0110 a0002c0002t0004g0111 a0002c0002t0004g0120 a0002c0002t0004g0165 a0002c0002t0004g0166 a0002c0002t0005g0008 a0002c0002t0005g0071 a0002c0002t0005g0087 a0002c0002t0005g0088 a0002c0002t0005g0090 a0002c0002t0005g0107 a0002c0002t0005g0114 a0002c0002t0028g0056 a0002c0002t0028g0057 a0002c0002t0028g0060 a0002c0002t0029g0078 a0002c0002t0029g0097 a0002c0002t0029g0167 a0002c0002t0030g0101 a0002c0002t0030g0102 a0002c0002t0030g0103 a0002c0002t0045g0007 a0002c0002t0046g0082 a0002c0002t0046g0083 a0002c0002t0047g0010 a0002c0002t0121g0061 a0002c0002t0122g0058 a0002c0002t0123g0109 a0002c0002t0125g0066 a0002c0002t0126g0117 a0002c0002t0127g0076 a0002c0002t0128g0051 a0002c0002t0129g0119 a0002c0002t0130g0095 a0002c0002t0132g0047 a0002c0002t0136g0085 a0002c0002t0137g0067 a0002c0002t0138g0089 a0002c0002t0140g0096 a0002c0002t0141g0084 a0002c0002t0142g0068 a0002c0007t0002g0064 a0002c0007t0002g0069 a0002c0011t0124g0059 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0313 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0316 a0003c0003t0001g0317 a0003c0003t0001g0318 a0003c0003t0001g0325 a0003c0003t0001g0326 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0001g0329 a0003c0003t0001g0330 a0003c0003t0001g0331 a0003c0003t0001g0332 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0337 a0003c0003t0001g0339 a0003c0003t0001g0340 a0003c0003t0001g0341 a0003c0003t0001g0342 a0003c0003t0001g0343 a0003c0003t0001g0344 a0003c0003t0001g0353 a0003c0003t0001g0354 a0003c0003t0001g0355 a0003c0003t0001g0356 a0003c0003t0013g0021 a0003c0003t0013g0022 a0003c0003t0013g0024 a0003c0003t0013g0025 a0003c0003t0013g0026 a0003c0003t0013g0027 a0003c0003t0019g0351 a0003c0003t0020g0319 a0003c0003t0020g0320 a0003c0003t0020g0322 a0003c0003t0020g0324 a0003c0003t0037g0347 a0003c0003t0037g0348 a0003c0003t0061g0020 a0003c0003t0062g0029 a0003c0003t0063g0345 a0003c0003t0064g0028 a0003c0003t0065g0023 a0003c0003t0066g0338 a0003c0003t0067g0336 a0003c0003t0068g0321 a0003c0003t0069g0323 a0006c0014t0002g0049	131	378	0.3466	39	c.583 others(54): Show c.583+534_583+572dupGCCCCACCAGCAGTCACTCCCCATGTCCCC TTCCCCTCG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	6/17			chr12	TogoVar
CHMP2A_chr19_58546566_58560105	58547146	T T	TAGAAGCT others(32): Show TAGAAGCTAGAAGAAAGGGATGTGTTTCTCAGCTATGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01168.hp1 HG01261.hp2 others(14): Show HG00140.hp1 HG01168.hp1 HG01261.hp2 HG02071.hp1 HG02683.hp2 HG02698.hp1 HG04204.hp2 NA18944.hp1 NA18952.hp2 NA18959.hp1 NA18960.hp1 NA18982.hp2 NA19003.hp1 NA19012.hp2 NA19065.hp1 NA19084.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0025	17	420	0.0405	39	c.44 others(50): Show c.4464_*4502dupCAACATAGCTGAGAAACACATCCCTTTCTTCTAG CTTCT	CHMP2A	ENSG00000130724.10	transcript	ENST00000312547.7	protein_coding		4419		chr19	TogoVar
CHMP2A_chr19_58546566_58560105	58547146	T T	TAGAAGCT others(32): Show TAGAAGCTAGAAGAGAGGGATGTGTTTCTCAGCTATGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01943.hp2 HG02004.hp2 others(2): Show HG01928.hp2 HG01943.hp2 HG02004.hp2 NA19057.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0002 a0001c0001t0001g0004	5	420	0.0119	39	c.45 others(50): Show c.4502_*4503insCAACATAGCTGAGAAACACATCCCTCTCTTCTAG CTTCT	CHMP2A	ENSG00000130724.10	transcript	ENST00000312547.7	protein_coding		4419		chr19	TogoVar
CHMP3_chr2_86498430_86568443	86544954	G G	GGGGCGGC others(32): Show GGGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCGGACGAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19091.hp2 NA18971.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0058 a0001c0001t0003g0028 a0001c0001t0003g0058	2	336	0.0060	39	c.46- others(54): Show c.46-2643_46-2642insTTCGTCCGGGAGGTGAGGAGCGCCTCTGCC CGGCCGCCC	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5			chr2	TogoVar
CHMP3_chr2_86498430_86568443	86544987	A A	AGACGAAG others(32): Show AGACGAAGGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp1 others(80): Show HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01109.hp1 HG01175.hp1 HG01256.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02300.hp2 HG02738.hp1 HG02818.hp2 HG03209.hp1 HG03486.hp2 HG06807.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19060.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19080.hp2 NA19085.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 a0001c0001t0027 a0001c0001t0030	a0001c0001t0002g0009 a0001c0001t0002g0026 a0001c0001t0002g0030 others(71): Show a0001c0001t0002g0009 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0276 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0023 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0118 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0004g0013 a0001c0001t0004g0143 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0097 a0001c0001t0005g0108 a0001c0001t0005g0147 a0001c0001t0008g0016 a0001c0001t0008g0033 a0001c0001t0008g0034 a0001c0001t0008g0149 a0001c0001t0008g0150 a0001c0001t0008g0151 a0001c0001t0008g0153 a0001c0001t0008g0154 a0001c0001t0008g0155 a0001c0001t0010g0045 a0001c0001t0010g0047 a0001c0001t0010g0049 a0001c0001t0010g0051 a0001c0001t0010g0117 a0001c0001t0012g0015 a0001c0001t0012g0148 a0001c0001t0021g0043 a0001c0001t0027g0040 a0001c0001t0030g0152	83	336	0.2470	39	c.46- others(54): Show c.46-2714_46-2676dupCGGGAGGTGAGGAGCGCCTCTGCCCGGCCG CCCTTCGTC	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5			chr2	TogoVar
CHMP6_chr17_80986841_81005133	80994696	T T	TGGGGCCC others(32): Show TGGGGCCCGGGCAGCGTGGGCACCCTGTCGGCTGGGGTGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01515.hp2 HG02486.hp1 others(1): Show HG01123.hp2 HG01515.hp2 HG02486.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0024 a0001c0001t0009g0064 a0001c0001t0001g0024 a0001c0001t0009g0064	4	438	0.0091	39	c.174 others(52): Show c.174-81_174-43dupGGGCAGCGTGGGCACCCTGTCGGCTGGGGTGG GGGGCCC	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHMP6_chr17_80986841_81005133	80994696	T T	TGGGGCCC others(32): Show TGGGGCCCGGGCAGCGTGGGCACCCTGTTGGCTGGGGTGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00597.hp1 others(48): Show HG00099.hp2 HG00280.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp2 HG01175.hp2 HG01255.hp1 HG01346.hp2 HG01433.hp1 HG01934.hp2 HG01952.hp1 HG02015.hp2 HG02040.hp1 HG02083.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02300.hp1 HG02602.hp2 HG02622.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03834.hp1 HG03942.hp2 HG04228.hp2 NA18941.hp1 NA18945.hp1 NA18952.hp2 NA18955.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18995.hp1 NA18995.hp2 NA19060.hp1 NA19063.hp1 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19086.hp2 NA19087.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 a0001c0001t0001 a0001c0001t0003 a0001c0001t0023	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0031 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0003g0002 a0001c0001t0023g0091	51	438	0.1164	39	c.173 others(52): Show c.173+33_173+34insTGGCTGGGGTGGGGGGCCCGGGCAGCGTGGGC ACCCTGT	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHRM3_chr1_239381568_239920450	239662893	C C	CTCCTCCT others(32): Show CTCCTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0001 a0001c0001t0060g0001	1	116	0.0086	39	c.-24 others(60): Show c.-249-15291_-249-15290insCTCCTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239662893	C C	CTCCTCTT others(32): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp1 HG01261.hp2 others(6): Show HG01109.hp2 HG01255.hp1 HG01261.hp2 HG01981.hp2 HG02109.hp1 HG02735.hp2 HG03471.hp1 NA18943.hp1 NA18944.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0050 a0001c0001t0058 a0004c0003t0053	a0001c0001t0002g0006 a0001c0001t0004g0030 a0001c0001t0010g0031 others(6): Show a0001c0001t0002g0006 a0001c0001t0004g0030 a0001c0001t0010g0031 a0001c0001t0015g0033 a0001c0001t0015g0063 a0001c0001t0018g0042 a0001c0001t0050g0015 a0001c0001t0058g0011 a0004c0003t0053g0099	9	116	0.0776	39	c.-24 others(60): Show c.-249-15291_-249-15290insCTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239662893	C C	CTCTTCTT others(32): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0050 a0001c0001t0017g0050	1	116	0.0086	39	c.-24 others(60): Show c.-249-15292_-249-15254dupTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239874285	G G	GTATATAT others(32): Show GTATATATATATATATATATATCTATATACACAGTATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02735.hp1 HG02738.hp1 HG00609.hp1 HG02735.hp1 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0049 a0002c0002t0002 a0001c0001t0001 a0001c0001t0049 a0002c0002t0002	a0001c0001t0001g0098 a0001c0001t0049g0108 a0002c0002t0002g0012 a0001c0001t0001g0098 a0001c0001t0049g0108 a0002c0002t0002g0012	3	116	0.0259	39	c.-19 others(58): Show c.-19-33127_-19-33126insCTATATACACAGTATATATATATATA TATATATATATAT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA4_chr20_63338223_63366349	63359907	G G	GTGTGTGT others(32): Show GTGTGTGTGTGTGCCGGGCGTGCGCGTGCCGGGCGTGCGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01074.hp2 others(1): Show HG01070.hp2 HG01071.hp1 HG01074.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0081 a0001c0002t0001g0097 others(1): Show a0001c0002t0001g0047 a0001c0002t0001g0081 a0001c0002t0001g0097 a0001c0002t0001g0098	4	168	0.0238	39	c.77- others(52): Show c.77-209_77-208insGCGCACGCCCGGCACGCGCACGCCCGGCACAC ACACACA	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	1/5			chr20	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	282	0.0036	39	c.53- others(54): Show c.53-5281_53-5280insAAAAAAAAATATATATATATATATATATAT ATATATATA	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(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00558.hp2 others(1): Show HG00544.hp1 HG00558.hp1 HG00558.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0189 others(1): Show a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0189 a0001c0001t0002g0190	4	282	0.0142	39	c.53- others(54): Show c.53-5281_53-5280insAAAAAAATATATATATATATATATATATAT ATATATATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHST8_chr19_33616953_33778506	33618626	C C	CTCTTCTT others(32): Show CTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0008 a0004c0005t0004g0008	1	254	0.0039	39	c.-38 others(50): Show c.-3834_-3833insTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTT CTTCT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		3326		chr19	TogoVar
CHST9_chr18_26901481_27190308	27053256	A A	AAGAAGAA others(32): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	262	0.0038	39	c.122 others(56): Show c.122-4754_122-4753insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCTTCT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHSY1_chr15_101170727_101257048	101223530	T T	TACTTCCA others(32): Show TACTTCCACACTGGGACTCAGGCCTCGTCTACTACAGAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00642.hp1 others(13): Show HG00140.hp1 HG00438.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01255.hp2 HG01993.hp2 HG03490.hp2 HG03669.hp1 HG04115.hp2 HG04199.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0002c0002 a0003c0011 others(1): Show a0001c0003 a0002c0002 a0003c0011 a0004c0007	a0001c0003t0053 a0002c0002t0002 a0003c0011t0016 others(5): Show a0001c0003t0053 a0002c0002t0002 a0003c0011t0016 a0004c0007t0008 a0004c0007t0009 a0004c0007t0014 a0004c0007t0018 a0004c0007t0021	a0001c0003t0053g0303 a0002c0002t0002g0203 a0003c0011t0016g0213 others(13): Show a0001c0003t0053g0303 a0002c0002t0002g0203 a0003c0011t0016g0213 a0003c0011t0016g0214 a0003c0011t0016g0215 a0004c0007t0008g0074 a0004c0007t0009g0294 a0004c0007t0009g0295 a0004c0007t0009g0296 a0004c0007t0009g0297 a0004c0007t0009g0298 a0004c0007t0009g0299 a0004c0007t0014g0306 a0004c0007t0018g0060 a0004c0007t0021g0304 a0004c0007t0021g0305	16	422	0.0379	39	c.816 others(58): Show c.816+11513_816+11551dupCCTCTGTAGTAGACGAGGCCTGAGTC CCAGTGTGGAAGT	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2			chr15	TogoVar
CIB4_chr2_26576205_26646366	26589042	T T	TTCTTCTT others(32): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0244 a0002c0002t0002g0244	1	344	0.0029	39	c.329 others(56): Show c.329-5145_329-5144insGGAAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26589078	T T	TTCCTCTT others(32): Show TTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0124 a0002c0002t0002g0124	1	344	0.0029	39	c.329 others(56): Show c.329-5181_329-5180insGGAAGAAGAAGAAGAAGAAGAAGAAGAA GAGGAAGAGGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIDEA_chr18_12249361_12282595	12279782	G G	GGGCAAGG others(32): Show GGGCAAGGGAGGTTCGGTGCTCTGTTCACTAGGACTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0352 a0002c0002t0004g0352	1	448	0.0022	39	c.25 others(50): Show c.2512_*2513insGGCAAGGGAGGTTCGGTGCTCTGTTCACTAGGAC TCTTA	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding		2188		chr18	TogoVar
CLASP2_chr3_33491245_33723254	33571015	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	278	0.0036	39	c.270 others(56): Show c.2700-226_2700-225insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	25/38			chr3	TogoVar
CLDN8_chr21_30209006_30221097	30210304	T T	TATATATA others(32): Show TATATATATATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	466	0.0022	39	c.49 others(50): Show c.4943_*4944insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3701		chr21	TogoVar
CLEC10A_chr17_7069537_7085251	7084088	T T	TTCATGAA others(32): Show TTCATGAAAAAATAGTCAACTCCCAAAATAACTAACTTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0008 a0005c0008t0008	a0005c0008t0008g0057 a0005c0008t0008g0057	1	458	0.0022	39	c.-41 others(50): Show c.-4111_-4110insTCAAGTTAGTTATTTTGGGAGTTGACTATTTTTT CATGA	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding		3838		chr17	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	39	c.-80 others(48): Show c.-805_-804insATATATATATATATATATATATATATATATATATTT TTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAATATAT others(32): Show AAATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	39	c.-80 others(48): Show c.-805_-804insATATATATATATATATATATATATATATATATATAT ATT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLMN_chr14_95176940_95324908	95319934	C C	CGGGCGGG others(32): Show CGGGCGGGGCGCGGGCGCGGGCGGGGCGCGGGCGCGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	276	0.0036	39	c.-14 others(48): Show c.-143_-142insCGCCCGCGCCCGCGCCCCGCCCGCGCCCGCGCCCCG CCC	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding		27		chr14	TogoVar
CLN8_chr8_1758789_1791570	1763601	G G	GCGCCCCG others(32): Show GCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01358.hp1 HG02300.hp2 others(8): Show HG00621.hp1 HG01358.hp1 HG02300.hp2 HG03239.hp1 NA18612.hp2 NA18947.hp1 NA18952.hp1 NA18968.hp1 NA18980.hp2 NA19002.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0049 others(1): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0049 a0001c0001t0052	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0013 others(4): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0027 a0001c0001t0019g0001 a0001c0001t0049g0001 a0001c0001t0052g0012	11	413	0.0266	39	c.-40 others(48): Show c.-408_-407insCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCG CCC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		187		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763610	C C	CCCCCGCC others(32): Show CCCCCGCCGCGCCCCGCCCCGCGCCCCGCCCCCCGCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	413	0.0024	39	c.-39 others(48): Show c.-399_-398insCCCCGCCGCGCCCCGCCCCGCGCCCCGCCCCCCGCC GCG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		178		chr8	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCTTT others(32): Show CCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0177 a0001c0001t0072g0177	1	320	0.0031	39	c.602 others(56): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar

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Search Results (Total: 3425 hits)