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
CFAP70_chr10_73248762_73363864	73342850	GCGGATCA others(11): Show GCGGATCACAAGGTCAGGA	G G	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0001 a0013c0011t0001	a0013c0011t0001g0102 a0013c0011t0001g0102	1	220	0.0046	-18	c.610 others(35): Show c.610-1287_610-1270delTCCTGACCTTGTGATCCG	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	6/27			chr10	TogoVar
CFAP70_chr10_73248762_73363864	73351071	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp2 HG02486.hp2 others(6): Show HG00735.hp1 HG01891.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG03453.hp2 HG03516.hp1 NA18522.hp1 NA20129.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0002 a0004c0004t0001 a0003c0003t0002 a0004c0004t0001	a0003c0003t0002g0008 a0003c0003t0002g0009 a0003c0003t0002g0010 others(6): Show a0003c0003t0002g0008 a0003c0003t0002g0009 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0004c0004t0001g0018 a0004c0004t0001g0019	9	220	0.0409	-18	c.250 others(35): Show c.250+2467_250+2484delTATATATATATATATATA	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	3/27			chr10	TogoVar
CFAP74_chr1_1916957_2008786	1955018	AGGAAGTG others(11): Show AGGAAGTGCGGCTCACACC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(129): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19085.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(39): Show a0001 a0002 a0003 a0006 a0007 a0009 a0010 a0011 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0034 a0038 a0044 a0045 a0046 a0048 a0049 a0050 a0051 a0052 a0055 a0056 a0060 a0061 a0062 a0065 a0066	a0001c0001 a0001c0006 a0001c0022 others(55): Show a0001c0001 a0001c0006 a0001c0022 a0002c0004 a0002c0005 a0002c0008 a0002c0047 a0002c0074 a0002c0076 a0002c0084 a0003c0003 a0003c0013 a0003c0015 a0006c0012 a0006c0019 a0007c0021 a0007c0023 a0009c0011 a0009c0053 a0010c0025 a0010c0067 a0010c0069 a0011c0010 a0014c0046 a0015c0017 a0016c0024 a0017c0030 a0018c0027 a0019c0026 a0020c0028 a0023c0035 a0024c0039 a0024c0072 a0025c0031 a0026c0066 a0027c0034 a0028c0036 a0029c0075 a0030c0043 a0031c0042 a0032c0041 a0034c0038 a0038c0086 a0044c0078 a0045c0052 a0046c0045 a0048c0058 a0049c0068 a0050c0070 a0051c0071 a0052c0062 a0055c0097 a0056c0090 a0060c0059 a0061c0095 a0062c0094 a0065c0099 a0066c0098	a0001c0001t0001 a0001c0006t0001 a0001c0022t0001 others(59): Show a0001c0001t0001 a0001c0006t0001 a0001c0022t0001 a0002c0004t0002 a0002c0005t0002 a0002c0008t0002 a0002c0008t0006 a0002c0047t0009 a0002c0074t0002 a0002c0076t0002 a0002c0084t0002 a0003c0003t0001 a0003c0003t0003 a0003c0013t0001 a0003c0015t0001 a0003c0015t0007 a0006c0012t0001 a0006c0019t0001 a0007c0021t0001 a0007c0023t0001 a0009c0011t0001 a0009c0053t0001 a0010c0025t0001 a0010c0067t0001 a0010c0069t0001 a0011c0010t0001 a0011c0010t0008 a0014c0046t0001 a0015c0017t0002 a0016c0024t0002 a0017c0030t0001 a0018c0027t0001 a0019c0026t0002 a0020c0028t0002 a0023c0035t0002 a0024c0039t0001 a0024c0072t0001 a0025c0031t0001 a0026c0066t0001 a0027c0034t0001 a0028c0036t0001 a0029c0075t0001 a0030c0043t0002 a0031c0042t0001 a0032c0041t0001 a0034c0038t0004 a0038c0086t0001 a0044c0078t0001 a0045c0052t0002 a0046c0045t0001 a0048c0058t0001 a0049c0068t0001 a0050c0070t0001 a0051c0071t0001 a0052c0062t0001 a0055c0097t0002 a0056c0090t0002 a0060c0059t0001 a0061c0095t0001 a0062c0094t0001 a0065c0099t0002 a0066c0098t0002	a0001c0001t0001g0050 a0001c0001t0001g0148 a0001c0006t0001g0080 others(129): Show a0001c0001t0001g0050 a0001c0001t0001g0148 a0001c0006t0001g0080 a0001c0006t0001g0243 a0001c0022t0001g0016 a0002c0004t0002g0031 a0002c0004t0002g0032 a0002c0004t0002g0058 a0002c0004t0002g0065 a0002c0004t0002g0070 a0002c0004t0002g0074 a0002c0004t0002g0079 a0002c0004t0002g0146 a0002c0004t0002g0227 a0002c0004t0002g0245 a0002c0004t0002g0258 a0002c0004t0002g0260 a0002c0004t0002g0266 a0002c0005t0002g0017 a0002c0005t0002g0029 a0002c0005t0002g0061 a0002c0005t0002g0067 a0002c0005t0002g0082 a0002c0005t0002g0083 a0002c0005t0002g0136 a0002c0005t0002g0212 a0002c0008t0002g0003 a0002c0008t0002g0054 a0002c0008t0002g0193 a0002c0008t0006g0167 a0002c0047t0009g0271 a0002c0074t0002g0033 a0002c0076t0002g0069 a0002c0084t0002g0051 a0003c0003t0001g0088 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0097 a0003c0003t0001g0099 a0003c0003t0001g0116 a0003c0003t0001g0166 a0003c0003t0001g0190 a0003c0003t0001g0192 a0003c0003t0001g0195 a0003c0003t0001g0199 a0003c0003t0001g0203 a0003c0003t0001g0210 a0003c0003t0001g0221 a0003c0003t0001g0235 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0003g0053 a0003c0013t0001g0141 a0003c0013t0001g0142 a0003c0013t0001g0159 a0003c0013t0001g0265 a0003c0013t0001g0278 a0003c0015t0001g0168 a0003c0015t0001g0186 a0003c0015t0001g0189 a0003c0015t0007g0244 a0006c0012t0001g0043 a0006c0012t0001g0044 a0006c0012t0001g0059 a0006c0012t0001g0165 a0006c0012t0001g0237 a0006c0019t0001g0111 a0006c0019t0001g0122 a0006c0019t0001g0125 a0007c0021t0001g0257 a0007c0023t0001g0030 a0007c0023t0001g0036 a0007c0023t0001g0081 a0009c0011t0001g0135 a0009c0011t0001g0204 a0009c0011t0001g0213 a0009c0011t0001g0224 a0009c0011t0001g0228 a0009c0053t0001g0220 a0010c0025t0001g0010 a0010c0025t0001g0162 a0010c0025t0001g0277 a0010c0067t0001g0259 a0010c0069t0001g0071 a0011c0010t0001g0014 a0011c0010t0008g0015 a0014c0046t0001g0087 a0015c0017t0002g0026 a0015c0017t0002g0027 a0015c0017t0002g0073 a0015c0017t0002g0226 a0016c0024t0002g0004 a0016c0024t0002g0086 a0016c0024t0002g0126 a0017c0030t0001g0154 a0018c0027t0001g0267 a0018c0027t0001g0270 a0019c0026t0002g0110 a0020c0028t0002g0056 a0020c0028t0002g0249 a0023c0035t0002g0121 a0023c0035t0002g0147 a0024c0039t0001g0063 a0024c0072t0001g0062 a0025c0031t0001g0005 a0025c0031t0001g0075 a0026c0066t0001g0219 a0027c0034t0001g0076 a0027c0034t0001g0140 a0028c0036t0001g0163 a0028c0036t0001g0276 a0029c0075t0001g0084 a0030c0043t0002g0275 a0031c0042t0001g0272 a0032c0041t0001g0139 a0034c0038t0004g0252 a0038c0086t0001g0151 a0044c0078t0001g0132 a0045c0052t0002g0118 a0046c0045t0001g0034 a0048c0058t0001g0223 a0049c0068t0001g0214 a0050c0070t0001g0093 a0051c0071t0001g0077 a0052c0062t0001g0246 a0055c0097t0002g0085 a0056c0090t0002g0001 a0060c0059t0001g0025 a0061c0095t0001g0040 a0062c0094t0001g0018 a0065c0099t0002g0144 a0066c0098t0002g0173	132	278	0.4748	-18	c.217 others(35): Show c.2176+655_2176+672delGGTGTGAGCCGCACTTCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	2005910	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02145.hp1 NA18612.hp1 others(4): Show HG02135.hp2 HG02145.hp1 NA18612.hp1 NA18944.hp1 NA18952.hp1 NA18960.hp1 NA18966.hp2	a0001 a0008 a0019 others(2): Show a0001 a0008 a0019 a0032 a0064	a0001c0006 a0001c0020 a0008c0009 others(3): Show a0001c0006 a0001c0020 a0008c0009 a0019c0026 a0032c0041 a0064c0060	a0001c0006t0001 a0001c0020t0001 a0008c0009t0001 others(3): Show a0001c0006t0001 a0001c0020t0001 a0008c0009t0001 a0019c0026t0002 a0032c0041t0001 a0064c0060t0001	a0001c0006t0001g0020 a0001c0006t0001g0080 a0001c0020t0001g0131 others(4): Show a0001c0006t0001g0020 a0001c0006t0001g0080 a0001c0020t0001g0131 a0008c0009t0001g0138 a0019c0026t0002g0110 a0032c0041t0001g0139 a0064c0060t0001g0021	7	278	0.0252	-18	c.-22 others(29): Show c.-2247_-2230delACGAGAGAGAGAGAGAGA	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding		2125		chr1	TogoVar
CFAP74_chr1_1916957_2008786	2007872	GGTGGTGG others(11): Show GGTGGTGGGCACCTGTAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	278	0.0036	-18	c.-42 others(29): Show c.-4209_-4192delATTACAGGTGCCCACCAC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding		4087		chr1	TogoVar
CFAP77_chr9_132405211_132578319	132561645	ACACACAC others(11): Show ACACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp2 HG02723.hp2 HG02486.hp1 HG02647.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0191 a0001c0004t0001g0270 a0001c0004t0002g0201 a0001c0004t0001g0191 a0001c0004t0001g0270 a0001c0004t0002g0201	3	322	0.0093	-18	c.733 others(37): Show c.733-10741_733-10724delACACACACACACACACCC	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP91_chr3_119698022_119772102	119730601	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18906.hp2 NA20300.hp2 HG02280.hp1 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0008 a0001c0009t0005g0103 a0001c0009t0005g0008 a0001c0009t0005g0103	3	386	0.0078	-18	c.101 others(35): Show c.1018+256_1018+273delTGTGTGTGTGTGTGTGTG	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP91_chr3_119698022_119772102	119738332	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02129.hp2 NA19007.hp1 others(1): Show HG00558.hp1 HG02129.hp2 NA19007.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0149 a0001c0001t0001g0150 others(1): Show a0001c0001t0001g0126 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152	4	386	0.0104	-18	c.146 others(35): Show c.1461+867_1461+884delTTTTTTTTTTTTTTTTTT	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP92_chr3_128904873_128999076	128953600	CCCCTCTC others(11): Show CCCCTCTCCCTCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02280.hp2 HG02630.hp2	a0001 a0001	a0001c0023 a0001c0024 a0001c0023 a0001c0024	a0001c0023t0005 a0001c0024t0005 a0001c0023t0005 a0001c0024t0005	a0001c0023t0005g0333 a0001c0024t0005g0332 a0001c0023t0005g0333 a0001c0024t0005g0332	2	342	0.0059	-18	c.135 others(37): Show c.1354-7643_1354-7626delAGAGGGAGAGGGAGAGGG	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP95_chr9_69815817_69911227	69843554	CCTCCTTC others(11): Show CCTCCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	380	0.0026	-18	c.153 others(33): Show c.153-960_153-943delCCTTCTTCTTCTTCTTCT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843557	CCTTCTTC others(11): Show CCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01361.hp1 HG01433.hp1 others(2): Show HG00099.hp2 HG01361.hp1 HG01433.hp1 HG02074.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0206 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0206 a0001c0001t0001g0265	5	380	0.0132	-18	c.153 others(33): Show c.153-904_153-887delTTCTTCTTCTTCTTCTTC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP99_chr4_2413955_2468002	2446368	GTTATTAT others(11): Show GTTATTATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(234): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0009 a0012 a0014 a0017	a0001c0002 a0001c0003 a0001c0004 others(20): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0013 a0001c0015 a0001c0021 a0001c0024 a0001c0025 a0001c0034 a0002c0001 a0002c0005 a0002c0026 a0002c0027 a0002c0031 a0002c0039 a0005c0009 a0005c0017 a0009c0038 a0012c0030 a0014c0022 a0017c0019	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(25): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0004t0001 a0001c0006t0001 a0001c0012t0001 a0001c0013t0001 a0001c0015t0001 a0001c0021t0001 a0001c0024t0001 a0001c0025t0001 a0001c0034t0001 a0002c0001t0001 a0002c0001t0004 a0002c0005t0001 a0002c0005t0002 a0002c0026t0001 a0002c0027t0001 a0002c0031t0001 a0002c0039t0001 a0005c0009t0001 a0005c0017t0001 a0009c0038t0001 a0012c0030t0001 a0014c0022t0001 a0017c0019t0001	a0001c0002t0001g0018 a0001c0002t0001g0022 a0001c0002t0001g0033 others(215): Show a0001c0002t0001g0018 a0001c0002t0001g0022 a0001c0002t0001g0033 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0066 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0111 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0179 a0001c0002t0001g0182 a0001c0002t0001g0186 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0001g0219 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0298 a0001c0002t0001g0307 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0314 a0001c0002t0003g0306 a0001c0002t0003g0312 a0001c0003t0001g0016 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0028 a0001c0003t0001g0058 a0001c0003t0001g0087 a0001c0003t0001g0089 a0001c0003t0001g0097 a0001c0003t0001g0104 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0129 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0136 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0155 a0001c0003t0001g0161 a0001c0003t0001g0169 a0001c0003t0001g0174 a0001c0003t0001g0181 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0218 a0001c0003t0001g0247 a0001c0003t0001g0293 a0001c0003t0002g0039 a0001c0003t0005g0313 a0001c0004t0001g0041 a0001c0004t0001g0063 a0001c0004t0001g0067 a0001c0004t0001g0086 a0001c0004t0001g0188 a0001c0004t0001g0189 a0001c0004t0001g0198 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0206 a0001c0004t0001g0209 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0305 a0001c0004t0001g0311 a0001c0004t0001g0316 a0001c0006t0001g0165 a0001c0012t0001g0083 a0001c0012t0001g0084 a0001c0013t0001g0046 a0001c0015t0001g0285 a0001c0021t0001g0308 a0001c0024t0001g0185 a0001c0025t0001g0269 a0001c0034t0001g0187 a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0005 a0002c0001t0001g0006 a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0013 a0002c0001t0001g0017 a0002c0001t0001g0019 a0002c0001t0001g0020 a0002c0001t0001g0047 a0002c0001t0001g0061 a0002c0001t0001g0082 a0002c0001t0001g0085 a0002c0001t0001g0088 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0112 a0002c0001t0001g0114 a0002c0001t0001g0122 a0002c0001t0001g0125 a0002c0001t0001g0135 a0002c0001t0001g0144 a0002c0001t0001g0175 a0002c0001t0001g0180 a0002c0001t0001g0211 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0225 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0248 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0256 a0002c0001t0001g0264 a0002c0001t0001g0265 a0002c0001t0001g0267 a0002c0001t0001g0270 a0002c0001t0001g0271 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0275 a0002c0001t0001g0279 a0002c0001t0001g0281 a0002c0001t0001g0282 a0002c0001t0001g0283 a0002c0001t0001g0284 a0002c0001t0001g0286 a0002c0001t0001g0290 a0002c0001t0001g0291 a0002c0001t0001g0295 a0002c0001t0001g0296 a0002c0001t0001g0299 a0002c0001t0001g0301 a0002c0001t0001g0304 a0002c0001t0004g0224 a0002c0005t0001g0007 a0002c0005t0001g0048 a0002c0005t0001g0102 a0002c0005t0001g0103 a0002c0005t0001g0105 a0002c0005t0001g0116 a0002c0005t0001g0163 a0002c0005t0001g0226 a0002c0005t0001g0244 a0002c0005t0001g0257 a0002c0005t0001g0263 a0002c0005t0001g0274 a0002c0005t0001g0276 a0002c0005t0001g0277 a0002c0005t0001g0300 a0002c0005t0002g0036 a0002c0005t0002g0037 a0002c0026t0001g0020 a0002c0027t0001g0278 a0002c0031t0001g0294 a0002c0039t0001g0001 a0005c0009t0001g0156 a0005c0009t0001g0158 a0005c0009t0001g0159 a0005c0009t0001g0160 a0005c0017t0001g0157 a0005c0017t0001g0166 a0009c0038t0001g0292 a0012c0030t0001g0149 a0014c0022t0001g0196 a0017c0019t0001g0230	237	350	0.6771	-18	c.642 others(35): Show c.642+1084_642+1101delATTATTATTATTATTATT	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFB_chr6_31941095_31957084	31948097	CCCTGAAC others(11): Show CCCTGAACTCGGGGGAATG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	431	0.0023	-18	c.897 others(31): Show c.897+17_897+34delCCTGAACTCGGGGGAATG	CFB	ENSG00000243649.10	transcript	ENST00000425368.7	protein_coding	6/17			chr6	TogoVar
CFDP1_chr16_75288710_75438503	75297145	CTTGTGTG others(11): Show CTTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	314	0.0032	-18	c.810 others(35): Show c.810-3121_810-3104delACACACACACACACACAA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349650	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02486.hp1 others(3): Show HG02109.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 others(3): Show a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196	6	314	0.0191	-18	c.651 others(37): Show c.651-44486_651-44469delTTTTTTTTTTTTTTTTTT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75384852	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02970.hp1 others(1): Show HG02145.hp2 HG02257.hp2 HG02970.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0139 a0001c0002t0001g0031 a0001c0002t0001g0038 others(1): Show a0001c0001t0001g0139 a0001c0002t0001g0031 a0001c0002t0001g0038 a0001c0002t0001g0039	4	314	0.0127	-18	c.650 others(37): Show c.650+10220_650+10237delTATATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75393737	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02698.hp2 HG03098.hp1 others(7): Show HG02135.hp2 HG02698.hp2 HG03098.hp1 NA18966.hp2 NA19006.hp2 NA19010.hp2 NA19060.hp2 NA19062.hp2 NA19081.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0032 others(7): Show a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0032 a0001c0002t0001g0043 a0001c0002t0001g0077 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0188 a0001c0002t0001g0283 a0001c0002t0005g0068	10	314	0.0319	-18	c.650 others(35): Show c.650+1335_650+1352delTTTTTTTTTTTTTTTTTT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75410055	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG04204.hp1 NA20752.hp2 HG02523.hp2 HG04204.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282	3	314	0.0096	-18	c.530 others(35): Show c.530+1752_530+1769delTTTTTTTTTTTTTTTTTT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	4/6			chr16	TogoVar
CFD_chr19_854664_868641	862217	AAGAAGGG others(11): Show AAGAAGGGTCAGGGCGGGC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	287	0.0035	-18	c.615 others(33): Show c.615+266_615+283delGGGTCAGGGCGGGCAGAA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFHR1_chr1_196814731_196837189	196823095	ATATATAT others(11): Show ATATATATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18945.hp1 NA18969.hp1 others(2): Show HG02523.hp1 NA18945.hp1 NA18969.hp1 NA18972.hp1 NA19072.hp1	a0003 a0008 a0003 a0008	a0003c0005 a0008c0008 a0003c0005 a0008c0008	a0003c0005t0001 a0008c0008t0001 a0003c0005t0001 a0008c0008t0001	a0003c0005t0001g0008 a0008c0008t0001g0008 a0003c0005t0001g0008 a0008c0008t0001g0008	5	275	0.0182	-18	c.59- others(33): Show c.59-2380_59-2363delATATATGTGTGTGTGTGT	CFHR1	ENSG00000244414.8	transcript	ENST00000320493.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR3_chr1_196769840_196800407	196773675	TATATATA others(11): Show TATATATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 NA18947.hp2 HG03453.hp1 NA18947.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0003 a0002c0001t0002 a0002c0001t0003	a0002c0001t0002g0009 a0002c0001t0003g0086 a0002c0001t0002g0009 a0002c0001t0003g0086	2	261	0.0077	-18	c.-12 others(29): Show c.-1211_-1194delATATATATATATATATAC	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		1164		chr1	TogoVar
CFHR5_chr1_196972556_197014678	196999724	CACACACA others(11): Show CACACACACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG04199.hp1 HG01981.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0225 a0001c0001t0001g0211 a0001c0001t0001g0225	2	356	0.0056	-18	c.114 others(37): Show c.1147+1430_1147+1447delCATATATATACACACACA	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196674872	AAAAATAA others(11): Show AAAAATAAATAAGACACAC	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18970.hp1 NA18980.hp2 others(1): Show NA18946.hp2 NA18970.hp1 NA18980.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0211 a0001c0001t0001g0223 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0211 a0001c0001t0001g0223 a0001c0001t0001g0237	4	308	0.0130	-18	c.350 others(33): Show c.350+912_350+929delAAATAAATAAGACACACA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714660	TATATATA others(11): Show TATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0117	1	308	0.0033	-18	c.151 others(35): Show c.1519+745_1519+762delTATATATAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714662	TATATATA others(11): Show TATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02148.hp2 HG04184.hp1 others(1): Show HG00738.hp1 HG02148.hp2 HG04184.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0064 a0002c0002t0001g0085 others(1): Show a0002c0002t0001g0054 a0002c0002t0001g0064 a0002c0002t0001g0085 a0002c0002t0001g0107	4	308	0.0130	-18	c.151 others(35): Show c.1519+747_1519+764delTATATAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714664	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02165.hp2 HG02300.hp1 others(1): Show HG02074.hp2 HG02165.hp2 HG02300.hp1 NA20752.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0189 others(1): Show a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0189 a0003c0003t0001g0132	4	308	0.0130	-18	c.151 others(35): Show c.1519+749_1519+766delTATAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714666	TATAGAGA others(11): Show TATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	308	0.0033	-18	c.151 others(35): Show c.1519+751_1519+768delTAGAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18971.hp2 HG01952.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0035 a0002c0002t0001g0032 a0002c0002t0001g0035	2	308	0.0065	-18	c.151 others(35): Show c.1519+785_1519+802delGAGAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFLAR_chr2_201111164_201181687	201114036	ATATATAT others(11): Show ATATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0061 a0001c0001t0135g0061	1	234	0.0043	-18	c.-25 others(29): Show c.-2582_-2565delTATATATATATTTTTTTT	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding		2127		chr2	TogoVar
CFTR_chr7_117475025_117673665	117612036	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02818.hp2 HG02886.hp2 others(1): Show HG02683.hp2 HG02818.hp2 HG02886.hp2 NA19030.hp1	a0001 a0007 a0001 a0007	a0001c0005 a0001c0006 a0007c0024 a0001c0005 a0001c0006 a0007c0024	a0001c0005t0003 a0001c0006t0003 a0007c0024t0003 a0001c0005t0003 a0001c0006t0003 a0007c0024t0003	a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0006t0003g0015 others(1): Show a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0006t0003g0015 a0007c0024t0003g0148	4	202	0.0198	-18	c.336 others(35): Show c.3367+242_3367+259delTATACATATATATATATA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117612050	TATACATA others(11): Show TATACATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	202	0.0050	-18	c.336 others(35): Show c.3367+243_3367+260delATACATATATATATATAG	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26			chr7	TogoVar
CGB1_chr19_49030569_49041895	49032686	GCCGGGGC others(11): Show GCCGGGGCAGGTGCTGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	376	0.0027	-18	c.29 others(29): Show c.2906_*2923delTGGCAGCACCTGCCCCGG	CGB1	ENSG00000267631.5	transcript	ENST00000301407.8	protein_coding		2882		chr19	TogoVar
CGNL1_chr15_57371505_57555717	57374538	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02965.hp1 NA20300.hp2 HG02809.hp1 HG02965.hp1 NA20300.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0015c0035 a0002c0002 a0015c0035	a0002c0002t0007 a0002c0002t0042 a0015c0035t0012 a0002c0002t0007 a0002c0002t0042 a0015c0035t0012	a0002c0002t0007g0259 a0002c0002t0042g0005 a0015c0035t0012g0284 a0002c0002t0007g0259 a0002c0002t0042g0005 a0015c0035t0012g0284	3	294	0.0102	-18	c.-20 others(29): Show c.-2044_-2027delTGTGTGTGTGTGTGTGTG	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding		1966		chr15	TogoVar
CGNL1_chr15_57371505_57555717	57475492	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp1 others(67): Show HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01123.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp1 HG01993.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02155.hp1 HG02300.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG03130.hp1 HG03490.hp1 HG03490.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18964.hp1 NA18964.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19060.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0016 a0017 a0027	a0001c0001 a0001c0005 a0001c0011 others(9): Show a0001c0001 a0001c0005 a0001c0011 a0002c0002 a0003c0003 a0003c0032 a0004c0004 a0005c0006 a0007c0009 a0016c0033 a0017c0031 a0027c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0011t0002 a0001c0011t0022 a0002c0002t0003 a0002c0002t0008 a0002c0002t0034 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0015 a0003c0032t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0005c0006t0002 a0005c0006t0003 a0005c0006t0036 a0007c0009t0002 a0007c0009t0003 a0016c0033t0002 a0017c0031t0004 a0027c0022t0002	a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0102 others(67): Show a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0132 a0001c0001t0001g0197 a0001c0001t0001g0258 a0001c0001t0002g0042 a0001c0001t0002g0100 a0001c0001t0002g0113 a0001c0001t0002g0133 a0001c0001t0002g0203 a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0231 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0004g0063 a0001c0001t0004g0251 a0001c0001t0004g0254 a0001c0001t0010g0054 a0001c0001t0011g0106 a0001c0001t0011g0277 a0001c0001t0011g0279 a0001c0001t0011g0281 a0001c0001t0019g0160 a0001c0005t0001g0257 a0001c0005t0002g0016 a0001c0005t0002g0062 a0001c0005t0002g0201 a0001c0005t0002g0214 a0001c0005t0004g0230 a0001c0005t0004g0250 a0001c0011t0002g0084 a0001c0011t0002g0103 a0001c0011t0002g0110 a0001c0011t0022g0152 a0002c0002t0003g0239 a0002c0002t0008g0039 a0002c0002t0034g0090 a0003c0003t0001g0144 a0003c0003t0001g0179 a0003c0003t0002g0150 a0003c0003t0002g0172 a0003c0003t0002g0177 a0003c0003t0004g0086 a0003c0003t0004g0290 a0003c0003t0015g0072 a0003c0032t0002g0074 a0004c0004t0001g0138 a0004c0004t0002g0156 a0004c0004t0002g0157 a0004c0004t0004g0135 a0005c0006t0002g0169 a0005c0006t0003g0236 a0005c0006t0036g0026 a0007c0009t0002g0089 a0007c0009t0002g0143 a0007c0009t0003g0076 a0016c0033t0002g0218 a0017c0031t0004g0101 a0027c0022t0002g0173	70	294	0.2381	-18	c.240 others(39): Show c.2403+13627_2403+13644delGTGTGTGTGTGTGTGTGT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57513278	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01952.hp1 HG01993.hp2 HG01496.hp1 HG01952.hp1 HG01993.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0042 a0001c0001t0002g0225 a0003c0003t0002g0177 a0001c0001t0002g0042 a0001c0001t0002g0225 a0003c0003t0002g0177	3	294	0.0102	-18	c.240 others(37): Show c.2404-3495_2404-3478delTGTGTGTGTGTTTGTGTG	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57529559	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0192 a0004c0017t0001g0192	1	294	0.0034	-18	c.320 others(35): Show c.3201+777_3201+794delACACACACACACACACAC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGN_chr1_151506387_151543692	151511435	TGCCCGAG others(11): Show TGCCCGAGCCCGAGCCCGA	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0246 a0001c0001t0023g0246	1	382	0.0026	-18	c.-64 others(25): Show c.-64_-47delGCCCGAGCCCGAGCCCGA	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	1/21	7037	INFO_REALIGN_3_PRIME	chr1	TogoVar
CGN_chr1_151506387_151543692	151528162	TGTTTCAC others(11): Show TGTTTCACCGTGAAACATG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	382	0.0026	-18	c.189 others(37): Show c.1896+1067_1896+1084delAAACATGGTTTCACCGTG	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CGREF1_chr2_27095594_27124128	27116871	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01433.hp1 HG01433.hp2 others(7): Show HG00140.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG02071.hp1 HG03139.hp1 NA19058.hp2 NA19240.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0164 a0001c0001t0001g0178 others(6): Show a0001c0001t0001g0021 a0001c0001t0001g0164 a0001c0001t0001g0178 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0316	10	352	0.0284	-18	c.-12 others(35): Show c.-12+1957_-12+1974delGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHADL_chr22_41224513_41245931	41242143	CATATATA others(11): Show CATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18983.hp1 NA19088.hp2 NA18977.hp1 NA18983.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0094 a0001c0001t0001g0001 a0001c0001t0001g0094	3	414	0.0073	-18	c.-12 others(29): Show c.-1280_-1263delATATATATATATATATAT	CHADL	ENSG00000100399.16	transcript	ENST00000216241.14	protein_coding		1213		chr22	TogoVar
CHAT_chr10_49609037_49672942	49666237	CCCAGCCC others(11): Show CCCAGCCCCAGCTCCAGCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02976.hp1 HG06807.hp2 others(1): Show HG02486.hp2 HG02976.hp1 HG06807.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0028 a0001c0001t0016 a0001c0001t0028	a0001c0001t0016g0022 a0001c0001t0016g0219 a0001c0001t0028g0347 a0001c0001t0016g0022 a0001c0001t0016g0219 a0001c0001t0028g0347	4	418	0.0096	-18	c.12 others(29): Show c.1233_*1250delCCCAGCTCCAGCTCCAGC	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	15/15	1233	INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD3_chr7_132779870_133087090	132799007	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03453.hp1 NA19030.hp2 others(1): Show HG02723.hp1 HG03453.hp1 NA19030.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0150 a0001c0001t0001g0212 a0001c0001t0001g0309 others(1): Show a0001c0001t0001g0150 a0001c0001t0001g0212 a0001c0001t0001g0309 a0002c0002t0001g0248	4	310	0.0129	-18	c.525 others(35): Show c.525-2448_525-2431delCACACACACACACACACA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	6/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132807606	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	310	0.0032	-18	c.525 others(37): Show c.525-11047_525-11030delATATATATATATATATAT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	6/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132882461	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(103): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18947.hp1 NA18952.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18982.hp1 NA18988.hp2 NA18994.hp1 NA19004.hp2 NA19006.hp1 NA19010.hp2 NA19043.hp1 NA19057.hp2 NA19065.hp2 NA19070.hp2 NA19080.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 others(103): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0005g0308 a0001c0001t0006g0310 a0002c0002t0001g0248	106	310	0.3419	-18	c.453 others(35): Show c.453+3183_453+3200delTATATATATATATATATA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	5/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132914123	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19064.hp1 NA18980.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0084 a0001c0001t0001g0086	2	310	0.0065	-18	c.370 others(37): Show c.370-28396_370-28379delACACACACACACACACAC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	133050340	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	310	0.0032	-18	c.169 others(37): Show c.169+19784_169+19801delTTTTTTTTTTTTTTTTTT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	2/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126715716	CTTGCTAT others(11): Show CTTGCTATCAGTTTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp2 others(83): Show HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00735.hp1 HG01074.hp1 HG01109.hp2 HG01168.hp1 HG01255.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02897.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0006c0008 a0007c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001 a0006c0008t0002 a0007c0005t0001	a0001c0001t0001g0136 a0002c0002t0001g0002 a0002c0002t0001g0003 others(83): Show a0001c0001t0001g0136 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0003c0004t0001g0028 a0003c0004t0001g0029 a0006c0008t0002g0098 a0007c0005t0001g0051	86	216	0.3982	-18	c.87+ others(35): Show c.87+11318_87+11335delTTGCTATCAGTTTTCCCT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	1/7			chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126755865	TGTGTAGA others(11): Show TGTGTAGACACAGACATTC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03491.hp2 HG01123.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0090 a0001c0001t0001g0091	2	216	0.0093	-18	c.411 others(37): Show c.411+22644_411+22661delGTGTAGACACAGACATTC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7			chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126856304	CATGGATT others(11): Show CATGGATTTTCACTTCACA	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	216	0.0046	-18	c.495 others(35): Show c.495+3576_495+3593delTGGATTTTCACTTCACAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126862225	TCCTCCTC others(11): Show TCCTCCTCCTCCATCACCA	T T	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	-18	c.495 others(35): Show c.495+9507_495+9524delATCACCACCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar

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