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
CHCHD3_chr7_132779870_133087090	133027432	GGGAGGGA others(4): Show GGGAGGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	310	0.0032	-11	c.170 others(28): Show c.170-2816_170-2806delTCCCTCCCTCC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	2/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	133050340	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA20300.hp1 NA19058.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0128 a0001c0001t0001g0048 a0001c0001t0001g0128	2	310	0.0065	-11	c.169 others(30): Show c.169+19791_169+19801delTTTTTTTTTTT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	2/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126731098	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0167 a0001c0001t0001g0168	2	216	0.0093	-11	c.266 others(26): Show c.266+486_266+496delAAAAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126834053	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	216	0.0046	-11	c.412 others(30): Show c.412-18579_412-18569delAAAAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126898973	AGGACCTG others(4): Show AGGACCTGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02004.hp1 HG02015.hp2 others(22): Show HG00408.hp2 HG02004.hp1 HG02015.hp2 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02738.hp2 HG03704.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18954.hp1 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA18983.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19009.hp2 NA19011.hp2 NA19068.hp2 NA19070.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0141 a0002c0002t0001g0002 a0002c0002t0001g0005 others(22): Show a0001c0001t0001g0141 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0074	25	216	0.1157	-11	c.496 others(30): Show c.496-15705_496-15695delGACCTGTGGGG	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126913207	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02738.hp2 HG02896.hp1 others(4): Show HG01496.hp2 HG02738.hp2 HG02896.hp1 NA18943.hp1 NA19000.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0206 a0001c0001t0001g0211 a0002c0002t0001g0002 others(4): Show a0001c0001t0001g0206 a0001c0001t0001g0211 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0015	7	216	0.0324	-11	c.496 others(28): Show c.496-1446_496-1436delTTTTTTTTTTT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126934536	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01981.hp2 HG01496.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0211 a0001c0001t0001g0212	2	216	0.0093	-11	c.566 others(30): Show c.566+19806_566+19816delTTTTTTTTTTT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1_chr5_98848985_98934007	98871369	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0121 a0002c0002t0010g0121	1	334	0.0030	-11	c.386 others(28): Show c.3862-577_3862-567delTTTTTTTTTTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	28/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98883850	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0062 a0001c0003t0006g0062	1	334	0.0030	-11	c.256 others(28): Show c.2569-624_2569-614delTATATATATAT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	18/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98883851	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02717.hp2 HG00544.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0006 a0001c0001t0004 a0001c0003t0006	a0001c0001t0004g0033 a0001c0003t0006g0054 a0001c0001t0004g0033 a0001c0003t0006g0054	2	334	0.0060	-11	c.256 others(28): Show c.2569-625_2569-615delATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	18/35			chr5	TogoVar
CHD4_chr12_6565082_6612379	6607667	CCCCAACA others(4): Show CCCCAACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG01952.hp2 others(10): Show HG00733.hp1 HG01175.hp2 HG01952.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02895.hp2 HG02922.hp1 HG03225.hp1 HG06807.hp2 NA18906.hp2 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002	a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0292 others(7): Show a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0292 a0001c0002t0002g0004 a0001c0002t0002g0056 a0001c0002t0002g0276 a0001c0004t0002g0062 a0001c0004t0002g0067 a0001c0004t0002g0070 a0001c0004t0002g0074	13	374	0.0348	-11	c.-45 others(20): Show c.-457_-447delTGTGTGTTGGG	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding		289		chr12	TogoVar
CHD4_chr12_6565082_6612379	6607669	CCAACACA others(4): Show CCAACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG03471.hp2 HG02080.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0001c0002t0002 a0002c0001t0001	a0001c0002t0002g0084 a0002c0001t0001g0260 a0001c0002t0002g0084 a0002c0001t0001g0260	2	374	0.0054	-11	c.-45 others(20): Show c.-459_-449delTGTGTGTGTTG	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding		291		chr12	TogoVar
CHD5_chr1_6096787_6185321	6106990	GGATGGAG others(4): Show GGATGGAGGGAT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0063 a0001c0039t0063	a0001c0039t0063g0241 a0001c0039t0063g0241	1	320	0.0031	-11	c.557 others(28): Show c.5579-222_5579-212delATCCCTCCATC	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	38/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6139213	CTGTTCTG others(4): Show CTGTTCTGTTGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(65): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG01070.hp1 HG01106.hp2 HG01243.hp2 HG01257.hp1 HG01884.hp1 HG01934.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp2 HG02602.hp1 HG02818.hp1 HG03453.hp2 HG03688.hp1 HG03834.hp2 HG03942.hp2 NA18747.hp1 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18992.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19081.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(10): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0011 a0001c0015 a0001c0020 a0001c0027 a0001c0035 a0001c0049 a0002c0047 a0003c0018	a0001c0001t0005 a0001c0001t0006 a0001c0001t0054 others(27): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0054 a0001c0003t0002 a0001c0003t0008 a0001c0003t0010 a0001c0003t0015 a0001c0003t0021 a0001c0003t0022 a0001c0003t0036 a0001c0003t0046 a0001c0003t0047 a0001c0005t0006 a0001c0008t0002 a0001c0009t0014 a0001c0011t0008 a0001c0011t0010 a0001c0011t0021 a0001c0011t0048 a0001c0015t0002 a0001c0015t0006 a0001c0015t0008 a0001c0020t0002 a0001c0020t0004 a0001c0027t0067 a0001c0035t0002 a0001c0049t0049 a0002c0047t0078 a0003c0018t0002 a0003c0018t0015	a0001c0001t0005g0251 a0001c0001t0006g0165 a0001c0001t0054g0292 others(65): Show a0001c0001t0005g0251 a0001c0001t0006g0165 a0001c0001t0054g0292 a0001c0003t0002g0022 a0001c0003t0002g0070 a0001c0003t0002g0089 a0001c0003t0002g0090 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0128 a0001c0003t0002g0130 a0001c0003t0002g0152 a0001c0003t0002g0158 a0001c0003t0002g0187 a0001c0003t0002g0253 a0001c0003t0002g0256 a0001c0003t0002g0279 a0001c0003t0008g0053 a0001c0003t0008g0116 a0001c0003t0008g0119 a0001c0003t0008g0153 a0001c0003t0008g0155 a0001c0003t0008g0166 a0001c0003t0008g0174 a0001c0003t0008g0273 a0001c0003t0008g0280 a0001c0003t0010g0040 a0001c0003t0010g0117 a0001c0003t0010g0212 a0001c0003t0015g0157 a0001c0003t0015g0181 a0001c0003t0021g0039 a0001c0003t0021g0298 a0001c0003t0022g0192 a0001c0003t0022g0207 a0001c0003t0022g0220 a0001c0003t0036g0008 a0001c0003t0046g0204 a0001c0003t0047g0175 a0001c0005t0006g0202 a0001c0008t0002g0178 a0001c0009t0014g0229 a0001c0011t0008g0265 a0001c0011t0010g0103 a0001c0011t0010g0148 a0001c0011t0010g0160 a0001c0011t0010g0168 a0001c0011t0010g0183 a0001c0011t0010g0184 a0001c0011t0021g0161 a0001c0011t0048g0185 a0001c0015t0002g0129 a0001c0015t0002g0169 a0001c0015t0002g0170 a0001c0015t0006g0102 a0001c0015t0008g0209 a0001c0020t0002g0051 a0001c0020t0004g0277 a0001c0020t0004g0278 a0001c0027t0067g0205 a0001c0035t0002g0033 a0001c0049t0049g0096 a0002c0047t0078g0314 a0003c0018t0002g0167 a0003c0018t0002g0291 a0003c0018t0015g0186 a0003c0018t0015g0188	68	320	0.2125	-11	c.243 others(30): Show c.2437-2359_2437-2349delACAACAGAACA	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	15/41			chr1	TogoVar
CHD7_chr8_60673740_60873028	60690164	CAGAGTGG others(4): Show CAGAGTGGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02572.hp2 others(14): Show HG02055.hp1 HG02559.hp2 HG02572.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA20300.hp1 NA21309.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0027 a0001c0032 a0006c0037 a0008c0028	a0001c0001t0002 a0001c0001t0023 a0001c0002t0006 others(8): Show a0001c0001t0002 a0001c0001t0023 a0001c0002t0006 a0001c0003t0004 a0001c0003t0030 a0001c0007t0035 a0001c0008t0014 a0001c0027t0027 a0001c0032t0028 a0006c0037t0036 a0008c0028t0037	a0001c0001t0002g0074 a0001c0001t0023g0213 a0001c0002t0006g0109 others(14): Show a0001c0001t0002g0074 a0001c0001t0023g0213 a0001c0002t0006g0109 a0001c0002t0006g0114 a0001c0002t0006g0218 a0001c0003t0004g0107 a0001c0003t0004g0108 a0001c0003t0004g0171 a0001c0003t0004g0172 a0001c0003t0004g0186 a0001c0003t0030g0173 a0001c0007t0035g0160 a0001c0008t0014g0122 a0001c0027t0027g0185 a0001c0032t0028g0174 a0006c0037t0036g0214 a0008c0028t0037g0170	17	236	0.0720	-11	c.-17 others(32): Show c.-175+11084_-175+11094delGAGTGGGTGGA	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60744478	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	236	0.0042	-11	c.166 others(30): Show c.1665+1397_1665+1407delTTTTTTTTTTT	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60809668	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	236	0.0042	-11	c.249 others(30): Show c.2498+1412_2498+1422delAAAAAAAAAAA	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD8_chr14_21380199_21461123	21403415	GACAGAGT others(4): Show GACAGAGTAACC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	260	0.0039	-11	c.351 others(26): Show c.3518+27_3518+37delGGTTACTCTGT	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	17/37			chr14	TogoVar
CHD8_chr14_21380199_21461123	21451571	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	260	0.0039	-11	c.-21 others(30): Show c.-216+4450_-216+4460delTTTTTTTTTTT	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37			chr14	TogoVar
CHD8_chr14_21380199_21461123	21457628	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 NA18988.hp1 HG02145.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0218 a0001c0001t0004g0258 a0001c0001t0003g0218 a0001c0001t0004g0258	2	260	0.0077	-11	c.-18 others(22): Show c.-1823_-1813delTTTTTTTTTTT	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding		1506		chr14	TogoVar
CHD9_chr16_53049991_53332497	53188602	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02970.hp1 others(5): Show HG02257.hp2 HG02622.hp2 HG02970.hp1 HG03688.hp2 NA18981.hp2 NA19068.hp1 NA19088.hp1 NA19240.hp2	a0001 a0009 a0001 a0009	a0001c0005 a0009c0018 a0001c0005 a0009c0018	a0001c0005t0005 a0001c0005t0011 a0009c0018t0005 a0001c0005t0005 a0001c0005t0011 a0009c0018t0005	a0001c0005t0005g0017 a0001c0005t0005g0018 a0001c0005t0005g0032 others(5): Show a0001c0005t0005g0017 a0001c0005t0005g0018 a0001c0005t0005g0032 a0001c0005t0005g0061 a0001c0005t0005g0135 a0001c0005t0005g0151 a0001c0005t0011g0228 a0009c0018t0005g0155	8	238	0.0336	-11	c.145 others(32): Show c.1453-20862_1453-20852delTTTTTTTTTTT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	2/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53218834	CTACAAAC others(4): Show CTACAAACTATT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	238	0.0042	-11	c.178 others(30): Show c.1785-3808_1785-3798delACAAACTATTT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53304683	CTTTTCTT others(4): Show CTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00621.hp2 others(39): Show HG00140.hp2 HG00558.hp2 HG00621.hp2 HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01243.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02129.hp1 HG02155.hp2 HG02300.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp1 HG02965.hp1 HG03017.hp2 HG03942.hp1 HG04115.hp2 HG06807.hp1 NA18946.hp2 NA18950.hp1 NA18955.hp1 NA18961.hp1 NA18966.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18981.hp1 NA18982.hp1 NA18993.hp1 NA18999.hp2 NA19012.hp2 NA19062.hp2 NA19068.hp2 NA19074.hp2 NA19084.hp2 NA19088.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 others(2): Show a0001c0001 a0001c0003 a0001c0015 a0001c0016 a0001c0017	a0001c0001t0003 a0001c0001t0015 a0001c0003t0001 others(9): Show a0001c0001t0003 a0001c0001t0015 a0001c0003t0001 a0001c0003t0002 a0001c0003t0010 a0001c0003t0013 a0001c0003t0016 a0001c0003t0017 a0001c0003t0019 a0001c0015t0002 a0001c0016t0002 a0001c0017t0002	a0001c0001t0003g0016 a0001c0001t0015g0166 a0001c0003t0001g0158 others(39): Show a0001c0001t0003g0016 a0001c0001t0015g0166 a0001c0003t0001g0158 a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0015 a0001c0003t0002g0023 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0033 a0001c0003t0002g0036 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0059 a0001c0003t0002g0070 a0001c0003t0002g0073 a0001c0003t0002g0080 a0001c0003t0002g0083 a0001c0003t0002g0086 a0001c0003t0002g0094 a0001c0003t0002g0125 a0001c0003t0002g0142 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0161 a0001c0003t0002g0170 a0001c0003t0002g0191 a0001c0003t0002g0202 a0001c0003t0002g0224 a0001c0003t0010g0006 a0001c0003t0010g0013 a0001c0003t0013g0186 a0001c0003t0016g0039 a0001c0003t0017g0181 a0001c0003t0019g0004 a0001c0015t0002g0053 a0001c0016t0002g0156 a0001c0017t0002g0237	42	238	0.1765	-11	c.661 others(26): Show c.6619+63_6619+73delCTTTTCTTTTT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	31/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHEK1_chr11_125620163_125662147	125631861	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18953.hp2 NA18952.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0145 a0001c0001t0004g0153 a0001c0001t0004g0145 a0001c0001t0004g0153	2	384	0.0052	-11	c.425 others(28): Show c.425-1285_425-1275delAAAAAAAAAAA	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CHEK2_chr22_28682743_28746820	28683782	GGCTTAAG others(4): Show GGCTTAAGAACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	384	0.0026	-11	c.41 others(22): Show c.4104_*4114delAGTTCTTAAGC	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding		3960		chr22	TogoVar
CHEK2_chr22_28682743_28746820	28722554	AAAAAAGA others(4): Show AAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	384	0.0026	-11	c.592 others(28): Show c.592+2412_592+2422delCTTTTCTTTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	4/14			chr22	TogoVar
CHGB_chr20_5906510_5930353	5909823	CTTTCTTT others(4): Show CTTTCTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00558.hp1 others(66): Show HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG01109.hp1 HG01884.hp1 HG02055.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02976.hp1 HG03453.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 NA18612.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19058.hp1 NA19062.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19091.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0013 a0015	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0007c0007 a0013c0014 a0015c0013	a0001c0001t0005 a0002c0002t0003 a0003c0003t0002 others(5): Show a0001c0001t0005 a0002c0002t0003 a0003c0003t0002 a0003c0003t0003 a0004c0004t0001 a0007c0007t0001 a0013c0014t0003 a0015c0013t0003	a0001c0001t0005g0082 a0002c0002t0003g0065 a0002c0002t0003g0067 others(35): Show a0001c0001t0005g0082 a0002c0002t0003g0065 a0002c0002t0003g0067 a0003c0003t0002g0006 a0003c0003t0003g0006 a0003c0003t0003g0015 a0003c0003t0003g0016 a0003c0003t0003g0017 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0025 a0003c0003t0003g0035 a0003c0003t0003g0060 a0003c0003t0003g0061 a0003c0003t0003g0063 a0003c0003t0003g0064 a0003c0003t0003g0066 a0003c0003t0003g0068 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0003t0003g0075 a0003c0003t0003g0077 a0003c0003t0003g0078 a0003c0003t0003g0079 a0003c0003t0003g0080 a0003c0003t0003g0081 a0003c0003t0003g0083 a0003c0003t0003g0085 a0004c0004t0001g0160 a0004c0004t0001g0191 a0007c0007t0001g0049 a0007c0007t0001g0140 a0007c0007t0001g0141 a0013c0014t0003g0076 a0015c0013t0003g0020	69	440	0.1568	-11	c.-18 others(22): Show c.-1810_-1800delTTTCTTTCTTT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		1686		chr20	TogoVar
CHGB_chr20_5906510_5930353	5918810	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0089 a0006c0006t0002g0089	1	440	0.0023	-11	c.190 others(28): Show c.190+1916_190+1926delAAAAAAAAAAA	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHGB_chr20_5906510_5930353	5926069	ATATATAT others(4): Show ATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG02897.hp2 others(4): Show HG02486.hp1 HG02615.hp2 HG02897.hp2 HG02965.hp1 HG03453.hp1 NA18964.hp2 NA19004.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0007c0007 a0001c0001 a0004c0004 a0007c0007	a0001c0001t0001 a0004c0004t0001 a0007c0007t0004 a0001c0001t0001 a0004c0004t0001 a0007c0007t0004	a0001c0001t0001g0043 a0004c0004t0001g0027 a0007c0007t0004g0029 others(2): Show a0001c0001t0001g0043 a0004c0004t0001g0027 a0007c0007t0004g0029 a0007c0007t0004g0145 a0007c0007t0004g0148	7	440	0.0159	-11	c.10 others(22): Show c.1021_*1031delTATATATATAT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		717		chr20	TogoVar
CHIC1_chrX_73558197_73692111	73676808	CTGATTTT others(4): Show CTGATTTTTACA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02647.hp1 others(12): Show HG02280.hp1 HG02451.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03453.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0022 a0001c0001t0003 a0001c0001t0021 a0001c0001t0022	a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 others(12): Show a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0021g0066 a0001c0001t0022g0072	15	208	0.0721	-11	c.508 others(28): Show c.508-2517_508-2507delTGATTTTTACA	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5			chrX	TogoVar
CHKA_chr11_68047859_68126388	68088110	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0150 a0001c0001t0004g0150	1	276	0.0036	-11	c.463 others(28): Show c.463-6664_463-6654delTTTTTTTTTTT	CHKA	ENSG00000110721.12	transcript	ENST00000265689.9	protein_coding	2/11			chr11	TogoVar
CHKA_chr11_68047859_68126388	68095724	AAAAAAAA others(4): Show AAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	276	0.0036	-11	c.462 others(28): Show c.462+1284_462+1294delGTTTTTTTTTT	CHKA	ENSG00000110721.12	transcript	ENST00000265689.9	protein_coding	2/11			chr11	TogoVar
CHL1_chr3_191763_414417	309381	TTCCTTCC others(4): Show TTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02572.hp2 others(6): Show HG01243.hp2 HG01884.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG03239.hp2 HG03579.hp2 NA19030.hp2	a0001 a0003 a0008 others(3): Show a0001 a0003 a0008 a0009 a0010 a0011	a0001c0001 a0003c0003 a0008c0007 others(3): Show a0001c0001 a0003c0003 a0008c0007 a0009c0010 a0010c0009 a0011c0011	a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 others(6): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0003c0003t0004 a0008c0007t0012 a0009c0010t0048 a0010c0009t0034 a0010c0009t0035 a0011c0011t0002	a0001c0001t0002g0039 a0001c0001t0006g0097 a0001c0001t0016g0100 others(6): Show a0001c0001t0002g0039 a0001c0001t0006g0097 a0001c0001t0016g0100 a0003c0003t0004g0223 a0008c0007t0012g0101 a0009c0010t0048g0211 a0010c0009t0034g0007 a0010c0009t0035g0108 a0011c0011t0002g0098	9	290	0.0310	-11	c.-94 others(30): Show c.-94-10289_-94-10279delCCTTCCTTCCT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP2A_chr19_58546566_58560105	58558656	GGCCCCGC others(4): Show GGCCCCGCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	420	0.0024	-11	c.-37 others(22): Show c.-3704_-3694delGGGGGCGGGGC	CHMP2A	ENSG00000130724.10	transcript	ENST00000312547.7	protein_coding		3552		chr19	TogoVar
CHMP2B_chr3_87222309_87260556	87226588	TTTGTGTG others(4): Show TTTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	414	0.0024	-11	c.-93 others(20): Show c.-934_-924delTTGTGTGTGTG	CHMP2B	ENSG00000083937.10	transcript	ENST00000263780.9	protein_coding		720		chr3	TogoVar
CHMP2B_chr3_87222309_87260556	87229438	CATACTTG others(4): Show CATACTTGATGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(158): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18953.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp2 NA18989.hp1 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19055.hp2 NA19064.hp1 NA19065.hp1 NA19070.hp2 NA19072.hp2 NA19075.hp2 NA19078.hp2 NA19079.hp1 NA19084.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0002t0001 a0001c0002t0008 a0001c0002t0015 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0026 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0005g0001 a0001c0001t0005g0137 a0001c0001t0007g0044 a0001c0001t0010g0001 a0001c0001t0011g0001 a0001c0001t0013g0142 a0001c0001t0019g0001 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0008g0010 a0001c0002t0015g0014 a0001c0005t0001g0001	161	414	0.3889	-11	c.34+ others(26): Show c.34+1883_34+1893delATACTTGATGT	CHMP2B	ENSG00000083937.10	transcript	ENST00000263780.9	protein_coding	1/5			chr3	TogoVar
CHMP2B_chr3_87222309_87260556	87258997	GGATGATT others(4): Show GGATGATTTTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	414	0.0024	-11	c.51 others(22): Show c.5176_*5186delGATGATTTTCT	CHMP2B	ENSG00000083937.10	transcript	ENST00000263780.9	protein_coding		3442		chr3	TogoVar
CHMP3_chr2_86498430_86568443	86568096	AAAAAAAA others(4): Show AAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01256.hp1 others(18): Show HG00738.hp1 HG01069.hp1 HG01256.hp1 HG01517.hp2 HG02015.hp2 HG02129.hp2 HG02155.hp1 HG02258.hp1 HG02647.hp2 HG03486.hp2 HG06807.hp2 NA18522.hp2 NA18940.hp1 NA18942.hp1 NA18952.hp1 NA18966.hp1 NA18989.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0030	a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 others(16): Show a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0008g0016 a0001c0001t0008g0033 a0001c0001t0008g0034 a0001c0001t0008g0149 a0001c0001t0008g0150 a0001c0001t0008g0151 a0001c0001t0008g0153 a0001c0001t0008g0154 a0001c0001t0008g0155 a0001c0001t0012g0015 a0001c0001t0012g0148 a0001c0001t0030g0152	21	336	0.0625	-11	c.-47 others(22): Show c.-4759_-4749delCTTTTTTTTTT	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding		4654		chr2	TogoVar
CHMP6_chr17_80986841_81005133	80992564	GCCTGCCG others(4): Show GCCTGCCGGGGT	G G	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	438	0.0023	-11	c.63+ others(24): Show c.63+604_63+614delGTCCTGCCGGG	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHM_chrX_85856180_86052558	85913014	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00735.hp2 others(52): Show HG00323.hp2 HG00597.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01358.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03540.hp1 HG04184.hp1 HG04199.hp1 NA18940.hp1 NA18949.hp2 NA18953.hp1 NA18957.hp1 NA18967.hp1 NA18969.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18999.hp2 NA19003.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19060.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0005c0009 a0008c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(12): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0002t0002 a0002c0005t0011 a0005c0009t0012 a0008c0011t0006	a0001c0001t0002g0189 a0001c0001t0004g0211 a0001c0001t0004g0218 others(52): Show a0001c0001t0002g0189 a0001c0001t0004g0211 a0001c0001t0004g0218 a0001c0001t0004g0233 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0006g0116 a0001c0001t0006g0220 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0007g0075 a0001c0001t0007g0076 a0001c0001t0007g0077 a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0009g0210 a0001c0001t0011g0219 a0001c0001t0012g0224 a0001c0001t0016g0212 a0001c0001t0018g0245 a0001c0001t0019g0078 a0001c0001t0021g0244 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0002c0005t0011g0228 a0002c0005t0011g0229 a0005c0009t0012g0225 a0008c0011t0006g0230	55	245	0.2245	-11	c.116 others(30): Show c.1167-1687_1167-1677delTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85973300	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02886.hp2 NA18943.hp1 HG01243.hp1 HG02886.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0206 a0001c0001t0008g0192 a0001c0001t0008g0193 a0001c0001t0001g0206 a0001c0001t0008g0192 a0001c0001t0008g0193	3	245	0.0122	-11	c.314 others(28): Show c.314+5456_314+5466delTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	4/14			chrX	TogoVar
CHM_chrX_85856180_86052558	86026102	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0228 a0002c0005t0011g0228	1	245	0.0041	-11	c.116 others(28): Show c.116+1378_116+1388delAAAAAAAAAAA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174845900	CTGAATAA others(4): Show CTGAATAAATGT	C C	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	276	0.0036	-11	c.627 others(26): Show c.627+969_627+979delACATTTATTCA	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	7/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174962663	CGGGGGGG others(4): Show CGGGGGGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02723.hp2 others(6): Show HG02451.hp2 HG02572.hp2 HG02723.hp2 HG02896.hp1 HG03195.hp2 HG03471.hp2 HG03579.hp2 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(6): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0172 a0001c0001t0006g0049 a0001c0001t0006g0050	9	276	0.0326	-11	c.20- others(28): Show c.20-10472_20-10462delCCCCCCCCCCC	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	1/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174994876	GGACTTAA others(4): Show GGACTTAATGGT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp2 HG01891.hp1 others(11): Show HG00735.hp2 HG01496.hp2 HG01891.hp1 HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03098.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0056 others(11): Show a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067	14	276	0.0507	-11	c.19+ others(28): Show c.19+10007_19+10017delACCATTAAGTC	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	1/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29242759	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0022	a0001c0006t0022g0119 a0001c0006t0022g0119	1	232	0.0043	-11	c.49+ others(28): Show c.49+47785_49+47795delAAAAAAAAAAA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252578	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0218 a0001c0002t0005g0218	1	232	0.0043	-11	c.49+ others(28): Show c.49+57606_49+57616delTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29336759	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	232	0.0043	-11	c.50- others(28): Show c.50-17846_50-17836delAAAAAAAAAAA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29355772	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0211 a0002c0004t0005g0211	1	232	0.0043	-11	c.88+ others(26): Show c.88+1128_88+1138delTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29412338	TTTTTTTT others(4): Show TTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG06807.hp1 HG02258.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0006g0036 a0001c0002t0002g0168 a0001c0001t0006g0036 a0001c0002t0002g0168	2	232	0.0086	-11	c.576 others(30): Show c.576+11511_576+11521delTTTTTTTTTTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12			chr7	TogoVar

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