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
CGNL1_chr15_57371505_57555717	57447805	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	294	0.0034	10	c.180 others(29): Show c.1804-3664_1804-3655dupGTGTGTGTGT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57464670	T T	TTTTCCTT others(3): Show TTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG00735.hp2 others(34): Show HG00280.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01516.hp1 HG01517.hp2 HG01978.hp1 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02280.hp1 HG02559.hp1 HG02723.hp1 HG02818.hp1 HG03017.hp2 HG03225.hp2 HG03540.hp1 HG03654.hp2 HG03834.hp1 HG03834.hp2 NA18952.hp2 NA18954.hp1 NA18974.hp1 NA18977.hp2 NA18983.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA19002.hp1 NA19011.hp1 NA19011.hp2 NA19080.hp1 NA19080.hp2 NA19087.hp1 NA19087.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0019 a0022 a0027	a0001c0001 a0001c0005 a0001c0011 others(11): Show a0001c0001 a0001c0005 a0001c0011 a0001c0015 a0002c0002 a0003c0003 a0003c0032 a0004c0004 a0005c0006 a0008c0010 a0010c0013 a0019c0030 a0022c0027 a0027c0022	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0001c0011t0002 a0001c0011t0022 a0001c0015t0001 a0002c0002t0003 a0003c0003t0001 a0003c0003t0016 a0003c0032t0002 a0004c0004t0004 a0005c0006t0003 a0008c0010t0005 a0010c0013t0009 a0019c0030t0005 a0022c0027t0017 a0027c0022t0002	a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0104 others(34): Show a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0258 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0113 a0001c0001t0002g0213 a0001c0001t0002g0240 a0001c0001t0002g0252 a0001c0005t0002g0200 a0001c0005t0002g0214 a0001c0005t0002g0215 a0001c0011t0002g0084 a0001c0011t0002g0103 a0001c0011t0022g0152 a0001c0015t0001g0018 a0002c0002t0003g0175 a0002c0002t0003g0243 a0003c0003t0001g0227 a0003c0003t0016g0147 a0003c0003t0016g0198 a0003c0032t0002g0074 a0004c0004t0004g0077 a0004c0004t0004g0145 a0004c0004t0004g0171 a0005c0006t0003g0236 a0008c0010t0005g0048 a0008c0010t0005g0140 a0010c0013t0009g0012 a0019c0030t0005g0293 a0022c0027t0017g0282 a0027c0022t0002g0173	37	294	0.1259	10	c.240 others(29): Show c.2403+2831_2403+2840dupTCCTTTCCTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57470256	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02559.hp2 others(5): Show HG02145.hp1 HG02257.hp1 HG02559.hp2 HG02630.hp2 HG02895.hp1 HG03486.hp1 HG03688.hp2 HG06807.hp2	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0002c0002 a0021c0028 a0001c0001 a0002c0002 a0021c0028	a0001c0001t0001 a0001c0001t0010 a0001c0001t0021 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0021 a0002c0002t0007 a0002c0002t0013 a0002c0002t0014 a0021c0028t0006	a0001c0001t0001g0044 a0001c0001t0010g0262 a0001c0001t0021g0116 others(5): Show a0001c0001t0001g0044 a0001c0001t0010g0262 a0001c0001t0021g0116 a0002c0002t0007g0045 a0002c0002t0007g0055 a0002c0002t0013g0271 a0002c0002t0014g0040 a0021c0028t0006g0066	8	294	0.0272	10	c.240 others(29): Show c.2403+8370_2403+8379dupTTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57475492	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0045 a0002c0002t0007g0045	1	294	0.0034	10	c.240 others(31): Show c.2403+13635_2403+13644dupGTGTGTGTGT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57529559	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03041.hp2 HG03098.hp1 others(3): Show HG02145.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03486.hp1 NA18522.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0009 a0011 a0013	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0009c0014 a0011c0012 a0013c0018	a0001c0001t0001 a0002c0002t0007 a0004c0004t0001 others(3): Show a0001c0001t0001 a0002c0002t0007 a0004c0004t0001 a0009c0014t0006 a0011c0012t0020 a0013c0018t0031	a0001c0001t0001g0127 a0002c0002t0007g0055 a0004c0004t0001g0011 others(3): Show a0001c0001t0001g0127 a0002c0002t0007g0055 a0004c0004t0001g0011 a0009c0014t0006g0096 a0011c0012t0020g0024 a0013c0018t0031g0264	6	294	0.0204	10	c.320 others(27): Show c.3201+785_3201+794dupACACACACAC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGN_chr1_151506387_151543692	151527950	A A	ATATATAT others(3): Show ATATATATTTT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	382	0.0026	10	c.189 others(27): Show c.1896+844_1896+845insATATATTTTT	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CGN_chr1_151506387_151543692	151527950	A A	ATATATTT others(3): Show ATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00621.hp2 others(15): Show HG00597.hp1 HG00609.hp1 HG00621.hp2 HG01928.hp1 HG01981.hp1 HG03831.hp1 HG03927.hp2 HG04184.hp1 NA18951.hp2 NA18973.hp1 NA18981.hp1 NA18985.hp1 NA18994.hp1 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19064.hp2 NA19070.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0029 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0029 a0002c0002t0002 a0002c0002t0014 a0004c0005t0003	a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0055 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0101 a0001c0001t0001g0137 a0001c0001t0029g0056 a0002c0002t0002g0129 a0002c0002t0014g0147 a0004c0005t0003g0165	18	382	0.0471	10	c.189 others(27): Show c.1896+844_1896+845insATATTTTTTT	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CGN_chr1_151506387_151543692	151527950	A A	ATATTTTT others(3): Show ATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0197 a0001c0009t0001g0197	1	382	0.0026	10	c.189 others(27): Show c.1896+844_1896+845insATTTTTTTTT	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CGREF1_chr2_27095594_27124128	27107250	A A	ATTTGTTT others(3): Show ATTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	352	0.0028	10	c.-11 others(27): Show c.-11-2874_-11-2873insACAAAACAAA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27107254	T T	TTTTTGTT others(3): Show TTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(193): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG02004.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18972.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0002c0007 a0003c0005 a0006c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(13): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0004t0001 a0001c0004t0015 a0001c0004t0016 a0001c0011t0002 a0002c0007t0002 a0003c0005t0001 a0006c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(180): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0006g0236 a0001c0001t0006g0283 a0001c0001t0006g0302 a0001c0001t0010g0196 a0001c0001t0010g0231 a0001c0001t0011g0023 a0001c0001t0012g0024 a0001c0001t0014g0223 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0216 a0001c0002t0007g0006 a0001c0002t0007g0032 a0001c0002t0008g0076 a0001c0002t0008g0082 a0001c0004t0001g0022 a0001c0004t0001g0033 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0237 a0001c0004t0001g0247 a0001c0004t0001g0252 a0001c0004t0001g0313 a0001c0004t0001g0322 a0001c0004t0015g0290 a0001c0004t0016g0321 a0001c0011t0002g0145 a0002c0007t0002g0077 a0002c0007t0002g0090 a0003c0005t0001g0163 a0003c0005t0001g0167 a0003c0005t0001g0191 a0003c0005t0001g0194 a0003c0005t0001g0218 a0003c0005t0001g0261 a0006c0008t0001g0208	196	352	0.5568	10	c.-11 others(27): Show c.-11-2887_-11-2878dupCAAAACAAAA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(3): Show TTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19068.hp1 HG03540.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0224 a0001c0001t0001g0225	2	352	0.0057	10	c.-12 others(27): Show c.-12+1965_-12+1974dupGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(3): Show CTCTCTCTCTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0111 a0001c0002t0002g0111	1	352	0.0028	10	c.-12 others(27): Show c.-12+1922_-12+1923insAAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGRRF1_chr14_54504906_54544292	54513566	T T	TTTATGTT others(3): Show TTTATGTTATG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19074.hp1 NA19087.hp1 NA19067.hp1 NA19074.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0178 a0001c0001t0001g0025 a0001c0001t0001g0178	3	338	0.0089	10	c.104 others(27): Show c.104+3545_104+3554dupTATGTTATGT	CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
CGRRF1_chr14_54504906_54544292	54535359	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02451.hp2 HG02572.hp1 others(12): Show HG01168.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02818.hp1 HG02896.hp1 HG02976.hp1 HG03490.hp2 HG04228.hp2 NA18992.hp2 NA18998.hp2 NA19043.hp1 NA19240.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0042 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0150 a0001c0001t0005g0014 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0007g0014	15	338	0.0444	10	c.571 others(27): Show c.571-2337_571-2328dupACACACACAC	CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
CHAC1_chr15_40948471_40961512	40951595	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	420	0.0024	10	c.-19 others(21): Show c.-1989_-1988insAAAAAAAAAA	CHAC1	ENSG00000128965.13	transcript	ENST00000617768.5	protein_coding		1875		chr15	TogoVar
CHAC2_chr2_53762804_53780196	53770084	T T	TTATCTAC others(3): Show TTATCTACTTG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	426	0.0024	10	c.136 others(27): Show c.136-1822_136-1813dupTATCTACTTG	CHAC2	ENSG00000143942.5	transcript	ENST00000295304.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
CHAD_chr17_50459496_50473880	50461927	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG03098.hp1 HG02572.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0038 a0001c0001t0016g0062 a0001c0001t0001g0038 a0001c0001t0016g0062	2	386	0.0052	10	c.31 others(21): Show c.3117_*3126dupACACACACAC	CHAD	ENSG00000136457.10	transcript	ENST00000508540.6	protein_coding		2568		chr17	TogoVar
CHAF1A_chr19_4397640_4448397	4402663	G G	GCGGCAGC others(3): Show GCGGCAGCAGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0313 a0001c0003t0007g0313	1	384	0.0026	10	c.-99 others(17): Show c.-99_-90dupCGGCAGCAGC	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	1/15	89	INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00639.hp1 others(32): Show HG00323.hp2 HG00621.hp2 HG00639.hp1 HG01257.hp1 HG01361.hp1 HG01975.hp1 HG02145.hp2 HG02258.hp2 HG02965.hp1 HG03041.hp2 HG03239.hp1 HG03491.hp1 HG03540.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 NA18939.hp1 NA18946.hp1 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18975.hp2 NA18982.hp1 NA18992.hp1 NA18994.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp2 NA19062.hp2 NA19070.hp1 NA19076.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0026 a0002c0002 a0009c0024	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0009 a0001c0007t0001 a0001c0026t0001 a0002c0002t0002 a0009c0024t0002	a0001c0001t0001g0002 a0001c0001t0001g0120 a0001c0001t0001g0141 others(31): Show a0001c0001t0001g0002 a0001c0001t0001g0120 a0001c0001t0001g0141 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0003g0326 a0001c0001t0003g0328 a0001c0001t0004g0327 a0001c0001t0004g0329 a0001c0003t0009g0286 a0001c0007t0001g0173 a0001c0026t0001g0002 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0089 a0009c0024t0002g0102	35	384	0.0912	10	c.104 others(25): Show c.104-421_104-412dupTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG01109.hp2 HG00438.hp1 HG00735.hp1 HG01109.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0023 a0007c0010 a0002c0002 a0002c0023 a0007c0010	a0002c0002t0002 a0002c0023t0002 a0007c0010t0006 a0002c0002t0002 a0002c0023t0002 a0007c0010t0006	a0002c0002t0002g0065 a0002c0023t0002g0366 a0007c0010t0006g0368 a0002c0002t0002g0065 a0002c0023t0002g0366 a0007c0010t0006g0368	3	384	0.0078	10	c.960 others(27): Show c.960+1897_960+1906dupTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4427136	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00639.hp1 others(42): Show HG00323.hp2 HG00423.hp1 HG00639.hp1 HG00738.hp2 HG01261.hp2 HG01358.hp2 HG01975.hp1 HG02074.hp1 HG02074.hp2 HG02165.hp2 HG02300.hp2 HG02698.hp2 HG03225.hp2 HG03540.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 NA18747.hp1 NA18939.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18959.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18978.hp2 NA18979.hp2 NA18985.hp2 NA18992.hp1 NA19002.hp1 NA19002.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19090.hp1 NA20752.hp2	a0001 a0008 a0015 a0001 a0008 a0015	a0001c0001 a0001c0021 a0008c0009 others(1): Show a0001c0001 a0001c0021 a0008c0009 a0015c0014	a0001c0001t0001 a0001c0021t0001 a0008c0009t0001 others(1): Show a0001c0001t0001 a0001c0021t0001 a0008c0009t0001 a0015c0014t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0026 others(40): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0021t0001g0230 a0008c0009t0001g0158 a0015c0014t0001g0226	45	384	0.1172	10	c.137 others(29): Show c.1378-1506_1378-1497dupTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4437735	T T	TTTTTATT others(3): Show TTTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0284 a0001c0003t0003g0285	2	384	0.0052	10	c.267 others(29): Show c.2673+4211_2673+4220dupATTTTATTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1B_chr21_36380392_36424015	36387219	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	346	0.0029	10	c.127 others(25): Show c.127-375_127-374insTTTTTTTTTT	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389758	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0051 a0001c0001t0026g0051	1	346	0.0029	10	c.260 others(27): Show c.260-1793_260-1792insGTGTGTGTGT	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13			chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389759	A A	ATATATGT others(3): Show ATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0297 a0001c0001t0005g0297	1	346	0.0029	10	c.260 others(27): Show c.260-1791_260-1790insATATGTGTGT	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGCGTGCG others(3): Show TGCGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02055.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0018 a0001c0001t0003g0019	2	346	0.0058	10	c.260 others(27): Show c.260-1748_260-1747insTGCGCGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGCG others(3): Show TGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01346.hp2 HG01358.hp1 others(2): Show HG01167.hp2 HG01346.hp2 HG01358.hp1 HG03669.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0004c0004t0003	a0001c0001t0002g0289 a0001c0001t0003g0013 a0001c0001t0003g0022 others(2): Show a0001c0001t0002g0289 a0001c0001t0003g0013 a0001c0001t0003g0022 a0001c0001t0011g0021 a0004c0004t0003g0028	5	346	0.0145	10	c.260 others(27): Show c.260-1750_260-1749insTGTGCGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(3): Show TGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02622.hp2 NA18522.hp2 others(2): Show HG01255.hp2 HG02622.hp2 NA18522.hp2 NA18992.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0007t0003 a0001c0001t0001 a0001c0001t0002 a0001c0007t0003	a0001c0001t0001g0077 a0001c0001t0002g0280 a0001c0001t0002g0281 others(2): Show a0001c0001t0001g0077 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0007t0003g0076	5	346	0.0145	10	c.260 others(27): Show c.260-1750_260-1749insTGTGTGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAT_chr10_49609037_49672942	49648726	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0281 a0001c0001t0014g0281	1	418	0.0024	10	c.138 others(27): Show c.1382+142_1382+151dupACACACACAC	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD3_chr7_132779870_133087090	132807606	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp2 HG01928.hp1 others(2): Show HG00323.hp1 HG01168.hp2 HG01928.hp1 HG02922.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0120 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0120 a0001c0001t0001g0211 a0001c0001t0001g0283	5	310	0.0161	10	c.525 others(29): Show c.525-11039_525-11030dupATATATATAT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	6/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132824314	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp2 HG01261.hp1 others(10): Show HG01070.hp1 HG01109.hp2 HG01261.hp1 HG01358.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG02273.hp1 HG02622.hp2 HG02647.hp2 HG03491.hp2 HG03492.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0032 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0058 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0004g0049	13	310	0.0419	10	c.524 others(29): Show c.524+14075_524+14084dupAAAAAAAAAA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	6/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132879716	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	310	0.0032	10	c.453 others(27): Show c.453+5936_453+5945dupTTTTTTTTTT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	5/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132914121	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp2 HG01884.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0151 a0001c0001t0001g0154	2	310	0.0065	10	c.370 others(29): Show c.370-28377_370-28376insACACACACAC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132914123	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp2 NA18979.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0267 a0001c0001t0001g0198 a0001c0001t0001g0267	2	310	0.0065	10	c.370 others(29): Show c.370-28388_370-28379dupACACACACAC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132919100	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01071.hp2 HG02027.hp2 others(10): Show HG00544.hp2 HG01071.hp2 HG02027.hp2 HG02080.hp1 HG02129.hp1 HG03710.hp1 NA18944.hp2 NA18954.hp1 NA18959.hp2 NA18979.hp1 NA18994.hp2 NA19077.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0173 others(10): Show a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0205	13	310	0.0419	10	c.370 others(29): Show c.370-33365_370-33356dupAAAAAAAAAA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132935100	G G	GAGGAACT others(3): Show GAGGAACTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00621.hp2 others(21): Show HG00544.hp1 HG00597.hp1 HG00621.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG02071.hp1 HG02080.hp2 HG02572.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02965.hp2 HG03669.hp1 NA18906.hp2 NA18952.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp2 NA18973.hp2 NA19030.hp2 NA19057.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0047 others(21): Show a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0288 a0001c0001t0001g0299 a0001c0001t0001g0309	24	310	0.0774	10	c.369 others(29): Show c.369+40068_369+40069insGAGAGTTCCT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGGGTGTG others(3): Show GGGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01257.hp1 HG01258.hp2 others(6): Show HG00741.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01943.hp1 HG01952.hp2 HG02273.hp1 HG03017.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0118 a0001c0001t0001g0119 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0132	9	310	0.0290	10	c.369 others(29): Show c.369+19995_369+19996insACACACACCC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(29): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00639.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG02109.hp1 HG02132.hp2 HG02630.hp1 HG03195.hp2 HG03209.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG04228.hp2 NA18952.hp1 NA18956.hp1 NA18959.hp1 NA18963.hp1 NA18973.hp2 NA19002.hp1 NA19010.hp2 NA19043.hp1 NA19057.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0001c0001t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0094 others(29): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0005g0308 a0002c0002t0001g0248	32	310	0.1032	10	c.369 others(29): Show c.369+19986_369+19995dupACACACACAC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132963694	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01361.hp2 HG01433.hp1 others(9): Show HG01261.hp1 HG01361.hp2 HG01433.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG03195.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 NA18906.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0138 a0001c0001t0001g0139 others(9): Show a0001c0001t0001g0012 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0191 a0001c0001t0001g0210 a0001c0001t0001g0211	12	310	0.0387	10	c.369 others(29): Show c.369+11465_369+11474dupGTGTGTGTGT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132965059	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01261.hp1 others(11): Show HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG02273.hp1 HG02622.hp2 HG03195.hp2 HG03831.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0022 others(11): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149	14	310	0.0452	10	c.369 others(29): Show c.369+10100_369+10109dupCACACACACA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132990951	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02109.hp1 HG02698.hp2 others(1): Show HG01099.hp1 HG02109.hp1 HG02698.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0249 a0001c0001t0001g0285 others(1): Show a0001c0001t0001g0204 a0001c0001t0001g0249 a0001c0001t0001g0285 a0001c0001t0001g0298	4	310	0.0129	10	c.252 others(29): Show c.252-15675_252-15666dupGTGTGTGTGT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	133027362	T T	TGAGAGAG others(3): Show TGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01516.hp2 HG01106.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	310	0.0065	10	c.170 others(27): Show c.170-2736_170-2735insTCTCTCTCTC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	2/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	133027363	A A	AAGAGAGA others(3): Show AAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01261.hp2 others(8): Show HG01069.hp2 HG01071.hp1 HG01261.hp2 HG01361.hp2 HG03654.hp2 HG03669.hp1 NA18612.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0069 a0001c0001t0001g0071 others(8): Show a0001c0001t0001g0027 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141	11	310	0.0355	10	c.170 others(27): Show c.170-2746_170-2737dupCTCTCTCTCT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	2/7			chr7	TogoVar
CHCHD4_chr3_14107077_14129870	14129307	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0042 a0001c0001t0006g0042	1	416	0.0024	10	c.-46 others(21): Show c.-4641_-4632dupTTTTTTTTTT	CHCHD4	ENSG00000163528.13	transcript	ENST00000396914.4	protein_coding		4438		chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126737390	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02080.hp1 HG03579.hp1 others(2): Show HG00408.hp2 HG02080.hp1 HG03579.hp1 NA19030.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0001 a0002c0002t0001 a0004c0007t0004 a0001c0001t0001 a0002c0002t0001 a0004c0007t0004	a0001c0001t0001g0114 a0002c0002t0001g0003 a0002c0002t0001g0010 others(2): Show a0001c0001t0001g0114 a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0013 a0004c0007t0004g0216	5	216	0.0232	10	c.411 others(27): Show c.411+4188_411+4197dupATATATATAT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126737390	G G	GTGTATAT others(3): Show GTGTATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0094 a0002c0002t0002g0094	1	216	0.0046	10	c.411 others(27): Show c.411+4169_411+4170insGTATATATAT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126764200	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	216	0.0046	10	c.411 others(29): Show c.411+30994_411+31003dupTATATATATA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp2 others(35): Show HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00735.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp2 HG01255.hp2 HG01496.hp1 HG01884.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02559.hp2 HG02738.hp1 HG03139.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18971.hp2 NA18980.hp2 NA19011.hp1 NA19068.hp1 NA19088.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0004t0001 a0005c0006t0001	a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 others(35): Show a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0175 a0001c0001t0003g0172 a0002c0002t0001g0031 a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0003c0004t0001g0029 a0005c0006t0001g0139	38	216	0.1759	10	c.412 others(29): Show c.412-28075_412-28066dupAAAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126892953	G G	GTTGTTTT others(3): Show GTTGTTTTGTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	216	0.0046	10	c.496 others(29): Show c.496-21704_496-21695dupGTTTTGTTTT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126956600	C C	CGAGAGAG others(3): Show CGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG02976.hp2 others(1): Show HG02258.hp1 HG02647.hp2 HG02976.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109 others(1): Show a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0111	4	216	0.0185	10	c.567 others(25): Show c.567-797_567-788dupGAGAGAGAGA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar

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