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	132824314	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA19043.hp1 HG01952.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0125 a0002c0002t0001g0248 a0001c0001t0001g0125 a0002c0002t0001g0248	2	310	0.0065	11	c.524 others(30): Show c.524+14074_524+14084dupAAAAAAAAAAA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	6/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132919100	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18947.hp1 NA18980.hp2 others(3): Show HG00609.hp2 NA18947.hp1 NA18980.hp2 NA19004.hp1 NA19006.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0197 others(3): Show a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208	6	310	0.0194	11	c.370 others(30): Show c.370-33366_370-33356dupAAAAAAAAAAA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG04228.hp1 HG02027.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0244 a0001c0001t0001g0092 a0001c0001t0001g0244	2	310	0.0065	11	c.369 others(30): Show c.369+19995_369+19996insACACACACACA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132997659	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	310	0.0032	11	c.252 others(30): Show c.252-22384_252-22374dupTTTTTTTTTTT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01168.hp2 HG01884.hp1 others(21): Show HG01069.hp1 HG01168.hp2 HG01884.hp1 HG01928.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02145.hp1 HG02273.hp2 HG02615.hp1 HG02683.hp2 HG02717.hp2 HG03669.hp2 HG03704.hp2 HG04204.hp2 NA18939.hp1 NA18943.hp2 NA18954.hp2 NA18983.hp1 NA18998.hp1 NA19009.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0007c0005	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0007c0005t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 others(21): Show a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0002c0002t0001g0030 a0002c0002t0001g0033 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0057 a0002c0002t0001g0063 a0003c0004t0001g0028 a0007c0005t0001g0051	24	216	0.1111	11	c.412 others(30): Show c.412-28076_412-28066dupAAAAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126862594	T T	TCCTCCTC others(4): Show TCCTCCTCATCC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	216	0.0046	11	c.495 others(28): Show c.495+9869_495+9870insTCATCCCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1L_chr1_147237684_147300762	147288322	C C	CATAAAAA others(4): Show CATAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03453.hp1 HG02280.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0326 a0001c0001t0001g0327	2	418	0.0048	11	c.232 others(28): Show c.2320+590_2320+591insTAAAAAAAAAA	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0192 a0005c0008t0001g0192	1	418	0.0024	11	c.34 others(22): Show c.3491_*3492insTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1L_chr1_147237684_147300762	147300012	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA20300.hp1 HG02976.hp2 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0068 a0004c0005t0002g0070 a0004c0005t0002g0068 a0004c0005t0002g0070	2	418	0.0048	11	c.45 others(22): Show c.4503_*4504insAAAAAAAAAAA	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		4251		chr1	TogoVar
CHD1_chr5_98848985_98934007	98911142	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	334	0.0030	11	c.54- others(26): Show c.54-6045_54-6044insATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp1 HG02717.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0026 a0002c0002t0016 a0001c0001t0026 a0002c0002t0016	a0001c0001t0026g0254 a0002c0002t0016g0135 a0001c0001t0026g0254 a0002c0002t0016g0135	2	334	0.0060	11	c.54- others(26): Show c.54-6049_54-6048insATATATATATT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02015.hp2 HG03516.hp1 others(2): Show HG00423.hp2 HG02015.hp2 HG03516.hp1 NA18954.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0024 a0001c0001t0001 a0002c0002t0024	a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0286 others(2): Show a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0286 a0001c0001t0001g0292 a0002c0002t0024g0045	5	334	0.0150	11	c.54- others(26): Show c.54-6049_54-6048insATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CCAAAAAA others(4): Show CCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0107 a0002c0002t0002g0107	1	334	0.0030	11	c.53+ others(26): Show c.53+9034_53+9035insTTTTTTTTTTG	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD2_chr15_92895324_93032996	92965565	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18994.hp2 NA18967.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0011 a0001c0001t0009g0009 a0001c0001t0009g0011	2	306	0.0065	11	c.200 others(30): Show c.2001-1740_2001-1730dupAAAAAAAAAAA	CHD2	ENSG00000173575.24	transcript	ENST00000394196.9	protein_coding	16/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHD2_chr15_92895324_93032996	93016779	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(136): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02886.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0003t0001 a0001c0003t0003 a0001c0004t0004 a0001c0005t0004 a0001c0005t0007 a0001c0005t0015 a0001c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0028 others(134): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0155 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0259 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0008 a0001c0001t0002g0085 a0001c0001t0005g0179 a0001c0001t0006g0080 a0001c0001t0006g0084 a0001c0001t0006g0260 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0011g0176 a0001c0001t0020g0113 a0001c0001t0021g0074 a0001c0001t0022g0097 a0001c0001t0023g0052 a0001c0001t0024g0077 a0001c0001t0025g0104 a0001c0002t0001g0238 a0001c0002t0001g0241 a0001c0002t0001g0254 a0001c0002t0002g0223 a0001c0002t0002g0231 a0001c0002t0005g0230 a0001c0002t0008g0012 a0001c0002t0011g0257 a0001c0003t0001g0129 a0001c0003t0001g0144 a0001c0003t0003g0149 a0001c0004t0004g0297 a0001c0005t0004g0159 a0001c0005t0004g0180 a0001c0005t0004g0276 a0001c0005t0004g0289 a0001c0005t0007g0050 a0001c0005t0007g0090 a0001c0005t0015g0073 a0001c0011t0001g0023	139	306	0.4543	11	c.490 others(30): Show c.4906+1875_4906+1885dupAAAAAAAAAAA	CHD2	ENSG00000173575.24	transcript	ENST00000394196.9	protein_coding	37/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHD4_chr12_6565082_6612379	6580704	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02486.hp1 HG02647.hp1 HG01192.hp2 HG02486.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0082 a0001c0002t0002g0278 a0001c0002t0002g0279	3	374	0.0080	11	c.490 others(28): Show c.4909+329_4909+339dupTTTTTTTTTTT	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding	33/39			chr12	TogoVar
CHD4_chr12_6565082_6612379	6580711	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0071 a0001c0004t0002g0071	1	374	0.0027	11	c.490 others(28): Show c.4909+332_4909+333insGTTTTTTTTTT	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding	33/39			chr12	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01981.hp2 NA20805.hp1 HG00323.hp1 HG01981.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0003c0006t0002 a0001c0001t0002 a0003c0006t0002	a0001c0001t0002g0241 a0001c0001t0002g0249 a0003c0006t0002g0191 a0001c0001t0002g0241 a0001c0001t0002g0249 a0003c0006t0002g0191	3	324	0.0093	11	c.612 others(28): Show c.6127+943_6127+953dupTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02451.hp2 HG02717.hp1 others(2): Show HG01978.hp2 HG02451.hp2 HG02717.hp1 HG02897.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0247 a0001c0003t0001g0287 a0001c0003t0001g0290 others(2): Show a0001c0001t0002g0247 a0001c0003t0001g0287 a0001c0003t0001g0290 a0001c0003t0001g0292 a0001c0003t0001g0293	5	324	0.0154	11	c.853 others(28): Show c.853-4731_853-4721dupTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41579437	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(88): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01433.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18957.hp2 NA18961.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA19006.hp1 NA19007.hp2 NA19011.hp1 NA19043.hp1 NA19057.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19240.hp1 NA20805.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0011	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0025 a0003c0006 a0004c0010 a0005c0007 a0011c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0005t0001 a0001c0005t0007 a0001c0008t0001 a0001c0025t0001 a0003c0006t0002 a0004c0010t0001 a0005c0007t0001 a0011c0020t0001	a0001c0001t0001g0055 a0001c0001t0001g0202 a0001c0001t0001g0203 others(88): Show a0001c0001t0001g0055 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0294 a0001c0001t0001g0305 a0001c0001t0001g0321 a0001c0001t0002g0149 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0226 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0283 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0300 a0001c0001t0006g0239 a0001c0001t0011g0225 a0001c0001t0013g0214 a0001c0002t0001g0145 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0183 a0001c0002t0001g0189 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0308 a0001c0005t0001g0256 a0001c0005t0001g0257 a0001c0005t0001g0258 a0001c0005t0007g0051 a0001c0005t0007g0306 a0001c0008t0001g0223 a0001c0008t0001g0246 a0001c0025t0001g0198 a0003c0006t0002g0150 a0003c0006t0002g0192 a0003c0006t0002g0194 a0004c0010t0001g0265 a0004c0010t0001g0266 a0005c0007t0001g0320 a0005c0007t0001g0322 a0005c0007t0001g0323 a0011c0020t0001g0207	91	324	0.2809	11	c.-23 others(30): Show c.-23-28088_-23-28078dupTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	1/36			chr20	TogoVar
CHD8_chr14_21380199_21461123	21380296	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(120): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18951.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18990.hp1 NA18990.hp2 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp2 NA19060.hp1 NA19074.hp1 NA19084.hp1 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0006 a0001c0008 others(5): Show a0001c0001 a0001c0006 a0001c0008 a0001c0013 a0002c0002 a0002c0007 a0003c0004 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0006t0001 a0001c0008t0001 a0001c0013t0002 a0002c0002t0001 a0002c0002t0004 a0002c0007t0001 a0003c0004t0001 a0006c0012t0002	a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0079 others(119): Show a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0222 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0004g0256 a0001c0001t0006g0043 a0001c0006t0001g0001 a0001c0006t0001g0126 a0001c0008t0001g0087 a0001c0008t0001g0088 a0001c0013t0002g0026 a0002c0002t0001g0057 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0092 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0105 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0136 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0179 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0230 a0002c0002t0001g0241 a0002c0002t0001g0246 a0002c0002t0001g0254 a0002c0002t0004g0257 a0002c0007t0001g0231 a0003c0004t0001g0133 a0003c0004t0001g0151 a0003c0004t0001g0156 a0006c0012t0002g0021	123	260	0.4731	11	c.53 others(22): Show c.5306_*5316dupAAAAAAAAAAA	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding		4902		chr14	TogoVar
CHD9_chr16_53049991_53332497	53063402	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0013 a0001c0003t0010g0013	1	238	0.0042	11	c.-16 others(30): Show c.-165+8325_-165+8326insCACACACACAC	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38			chr16	TogoVar
CHDH_chr3_53807335_53851419	53810758	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0154 a0001c0003t0154	a0001c0003t0154g0270 a0001c0003t0154g0270	1	392	0.0026	11	c.70 others(22): Show c.7008_*7018dupTTTTTTTTTTT	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding		1576		chr3	TogoVar
CHDH_chr3_53807335_53851419	53845658	G G	GCCTGACC others(4): Show GCCTGACCCGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0140 a0001c0003t0140	a0001c0003t0140g0322 a0001c0003t0140g0322	1	392	0.0026	11	c.-13 others(28): Show c.-131+414_-131+424dupTCCGGGTCAGG	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding	1/8			chr3	TogoVar
CHEK2_chr22_28682743_28746820	28702172	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	384	0.0026	11	c.908 others(28): Show c.908+1332_908+1333insCACACACACAC	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	8/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28729494	G G	GATCACGC others(4): Show GATCACGCCACT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	384	0.0026	11	c.320 others(28): Show c.320-4138_320-4128dupAGTGGCGTGAT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHGB_chr20_5906510_5930353	5913628	C C	CTTTTCTT others(4): Show CTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp1 HG03130.hp1 others(1): Show HG02145.hp1 HG02886.hp1 HG03130.hp1 HG03516.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0023 a0011c0011t0001g0058 a0011c0011t0001g0023 a0011c0011t0001g0058	4	440	0.0091	11	c.49+ others(26): Show c.49+1950_49+1951insCTTTTCTTTTT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHGB_chr20_5906510_5930353	5918163	A A	ACAAAACA others(4): Show ACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02451.hp1 others(3): Show HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02809.hp1 HG02970.hp1 NA18906.hp1	a0007 a0012 a0007 a0012	a0007c0007 a0012c0012 a0007c0007 a0012c0012	a0007c0007t0001 a0007c0007t0004 a0012c0012t0001 others(1): Show a0007c0007t0001 a0007c0007t0004 a0012c0012t0001 a0012c0012t0004	a0007c0007t0001g0153 a0007c0007t0004g0154 a0007c0007t0004g0155 others(3): Show a0007c0007t0001g0153 a0007c0007t0004g0154 a0007c0007t0004g0155 a0012c0012t0001g0150 a0012c0012t0001g0152 a0012c0012t0004g0151	6	440	0.0136	11	c.190 others(28): Show c.190+1244_190+1245insCAAAACAAAAC	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding	3/4			chr20	TogoVar
CHI3L1_chr1_203173931_203191704	203177652	G G	GACGTACC others(4): Show GACGTACCCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	468	0.0021	11	c.17 others(22): Show c.1792_*1793insGACGGGTACGT	CHI3L1	ENSG00000133048.13	transcript	ENST00000255409.8	protein_coding		1278		chr1	TogoVar
CHI3L2_chr1_111222713_111248440	111229681	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02135.hp1 HG02300.hp2 others(6): Show HG01934.hp1 HG02135.hp1 HG02300.hp2 HG03017.hp1 HG03017.hp2 HG03492.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0066 a0003c0005t0001g0011 a0003c0005t0001g0065 a0001c0001t0001g0066 a0003c0005t0001g0011 a0003c0005t0001g0065	9	434	0.0207	11	c.41- others(24): Show c.41-157_41-147dupAAAAAAAAAAA	CHI3L2	ENSG00000064886.14	transcript	ENST00000369748.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHIT1_chr1_203211079_203234673	203214835	A A	ACAAAACA others(4): Show ACAAAACAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	484	0.0021	11	c.20 others(22): Show c.2053_*2054insGTTTTGTTTTG	CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding		1243		chr1	TogoVar
CHKA_chr11_68047859_68126388	68060032	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01517.hp2 HG02155.hp1 others(2): Show HG01074.hp1 HG01517.hp2 HG02155.hp1 NA18954.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0005 a0001c0001t0002g0076 a0001c0001t0003g0012 others(2): Show a0001c0001t0002g0005 a0001c0001t0002g0076 a0001c0001t0003g0012 a0001c0001t0003g0029 a0001c0001t0003g0031	5	276	0.0181	11	c.131 others(30): Show c.1314+1920_1314+1921insAAAAAAAAAAA	CHKA	ENSG00000110721.12	transcript	ENST00000265689.9	protein_coding	11/11			chr11	TogoVar
CHL1_chr3_191763_414417	239595	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	290	0.0035	11	c.-17 others(30): Show c.-174-5018_-174-5017insTATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27			chr3	TogoVar
CHL1_chr3_191763_414417	333124	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0095	1	290	0.0035	11	c.385 others(28): Show c.385+4778_385+4779insTTTTTTTTTTT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	5/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP2A_chr19_58546566_58560105	58553632	C C	CTAGTAAC others(4): Show CTAGTAACATTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	420	0.0024	11	c.168 others(26): Show c.168+412_168+413insAAATGTTACTA	CHMP2A	ENSG00000130724.10	transcript	ENST00000312547.7	protein_coding	2/5			chr19	TogoVar
CHMP4B_chr20_33806348_33859366	33830933	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	332	0.0030	11	c.191 others(30): Show c.191-17528_191-17518dupTTTTTTTTTTT	CHMP4B	ENSG00000101421.4	transcript	ENST00000217402.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHMP6_chr17_80986841_81005133	80988926	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	438	0.0023	11	c.-29 others(22): Show c.-2993_-2992insGTGTGTGTGTG	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding		2914		chr17	TogoVar
CHMP6_chr17_80986841_81005133	80992564	G G	GCCTGCCG others(4): Show GCCTGCCGGGGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	438	0.0023	11	c.63+ others(24): Show c.63+604_63+614dupGTCCTGCCGGG	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHMP7_chr8_23238637_23266999	23241367	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01255.hp1 others(22): Show HG00280.hp1 HG00639.hp2 HG01255.hp1 HG01258.hp1 HG01981.hp1 HG02896.hp1 HG03669.hp1 HG03704.hp1 NA18612.hp2 NA18941.hp1 NA18960.hp1 NA18962.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18981.hp2 NA18991.hp1 NA19002.hp2 NA19060.hp2 NA19065.hp2 NA19072.hp1 NA19074.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0029 a0001c0001t0001 a0001c0001t0015 a0001c0001t0029	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0027 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0234 a0001c0001t0001g0335 a0001c0001t0015g0089 a0001c0001t0029g0001	25	438	0.0571	11	c.-29 others(22): Show c.-2918_-2917insTTTTTTTTTTT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		2269		chr8	TogoVar
CHMP7_chr8_23238637_23266999	23264115	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00733.hp1 others(49): Show HG00639.hp1 HG00639.hp2 HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01993.hp1 HG02004.hp1 HG02074.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02698.hp2 HG02818.hp2 HG02922.hp2 HG03239.hp1 HG03491.hp2 HG03654.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18944.hp2 NA18953.hp2 NA18960.hp1 NA18965.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp2 NA19002.hp1 NA19003.hp2 NA19079.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0028 a0001c0003t0001 a0001c0004t0018 a0001c0004t0031	a0001c0001t0001g0107 a0001c0001t0002g0285 a0001c0001t0005g0014 others(42): Show a0001c0001t0001g0107 a0001c0001t0002g0285 a0001c0001t0005g0014 a0001c0001t0005g0019 a0001c0001t0005g0021 a0001c0001t0005g0049 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0260 a0001c0001t0005g0264 a0001c0001t0005g0265 a0001c0001t0005g0270 a0001c0001t0005g0282 a0001c0001t0005g0286 a0001c0001t0005g0293 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0005g0320 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0006g0163 a0001c0001t0012g0014 a0001c0001t0012g0050 a0001c0001t0013g0203 a0001c0001t0013g0215 a0001c0001t0013g0221 a0001c0001t0014g0045 a0001c0001t0014g0218 a0001c0001t0015g0089 a0001c0001t0015g0149 a0001c0001t0015g0160 a0001c0001t0017g0161 a0001c0001t0017g0162 a0001c0001t0017g0169 a0001c0001t0019g0244 a0001c0001t0019g0245 a0001c0001t0019g0246 a0001c0001t0023g0044 a0001c0001t0028g0088 a0001c0003t0001g0013 a0001c0004t0018g0039 a0001c0004t0031g0110	52	438	0.1187	11	c.35 others(22): Show c.3516_*3517insTTTTTTTTTTT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		2117		chr8	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	245	0.0041	11	c.83 others(22): Show c.8340_*8341insTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85871304	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18972.hp1 NA18973.hp2 others(3): Show HG02135.hp1 NA18972.hp1 NA18973.hp2 NA18999.hp1 NA19043.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0001t0005 a0001c0003t0005	a0001c0001t0005g0100 a0001c0001t0005g0136 a0001c0003t0005g0118 others(3): Show a0001c0001t0005g0100 a0001c0001t0005g0136 a0001c0003t0005g0118 a0001c0003t0005g0126 a0001c0003t0005g0226 a0001c0003t0005g0227	6	245	0.0245	11	c.177 others(30): Show c.1770+1737_1770+1747dupTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	14/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG04204.hp1 HG03516.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0232 a0001c0001t0001g0101 a0001c0001t0001g0232	2	245	0.0082	11	c.116 others(30): Show c.1167-1995_1167-1994insCTTTCTTTCTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174847773	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0031	1	276	0.0036	11	c.550 others(26): Show c.550-827_550-817dupTTTTTTTTTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174974936	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	276	0.0036	11	c.20- others(28): Show c.20-22735_20-22734insTGTGTGTGTGT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	1/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29233825	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG01928.hp1 others(3): Show HG00738.hp1 HG01433.hp1 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0002c0003t0004	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0006g0020 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0006g0020 a0001c0001t0006g0036 a0001c0001t0008g0011 a0002c0003t0004g0089	6	232	0.0259	11	c.49+ others(28): Show c.49+38851_49+38861dupTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29240748	T T	TGTGGTGT others(4): Show TGTGGTGTTGCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01109.hp2 others(35): Show HG00642.hp1 HG01081.hp1 HG01109.hp2 HG01192.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG03834.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0002c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0001c0002t0014 a0001c0002t0016 a0001c0002t0026 a0001c0005t0001 a0001c0005t0005 a0002c0003t0002 a0002c0003t0018 a0002c0003t0021 a0002c0004t0001 a0002c0004t0006 a0002c0004t0012 a0002c0009t0002	a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0130 others(35): Show a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0166 a0001c0001t0003g0143 a0001c0001t0003g0161 a0001c0001t0005g0221 a0001c0001t0006g0153 a0001c0001t0006g0162 a0001c0001t0006g0217 a0001c0001t0010g0125 a0001c0001t0011g0164 a0001c0001t0012g0172 a0001c0001t0015g0117 a0001c0001t0028g0050 a0001c0002t0001g0085 a0001c0002t0002g0002 a0001c0002t0002g0078 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0171 a0001c0002t0002g0208 a0001c0002t0007g0152 a0001c0002t0010g0155 a0001c0002t0010g0167 a0001c0002t0014g0067 a0001c0002t0016g0048 a0001c0002t0026g0209 a0001c0005t0001g0137 a0001c0005t0005g0114 a0002c0003t0002g0069 a0002c0003t0002g0154 a0002c0003t0018g0047 a0002c0003t0021g0112 a0002c0004t0001g0121 a0002c0004t0006g0113 a0002c0004t0012g0180 a0002c0009t0002g0033	38	232	0.1638	11	c.49+ others(28): Show c.49+45760_49+45770dupTGGTGTTGCAG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01175.hp2 HG02258.hp2 others(1): Show HG00280.hp1 HG01175.hp2 HG02258.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002	a0001c0001t0005g0127 a0001c0001t0006g0227 a0001c0001t0008g0229 others(1): Show a0001c0001t0005g0127 a0001c0001t0006g0227 a0001c0001t0008g0229 a0001c0002t0002g0168	4	232	0.0172	11	c.49+ others(28): Show c.49+57606_49+57616dupTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29381809	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01175.hp1 others(3): Show HG00738.hp2 HG01069.hp2 HG01175.hp1 HG01175.hp2 HG03041.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 others(1): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0002t0004	a0001c0001t0006g0039 a0001c0001t0006g0226 a0001c0001t0006g0227 others(3): Show a0001c0001t0006g0039 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0011g0053 a0001c0001t0012g0040 a0001c0002t0004g0074	6	232	0.0259	11	c.145 others(30): Show c.145-11853_145-11843dupAAAAAAAAAAA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29417307	C C	CTTTGTGA others(4): Show CTTTGTGACATT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	232	0.0043	11	c.576 others(30): Show c.576+16483_576+16493dupGTGACATTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar

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