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
CAPN12_chr19_38725192_38749474	38735883	G G	GGGGCGGG others(98): Show GGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGGGGCGGTGG TTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGG TTCTGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp1 HG02132.hp1 others(2): Show HG02040.hp1 HG02071.hp1 HG02132.hp1 HG03942.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0284 a0001c0001t0005g0286 a0001c0001t0005g0294 others(2): Show a0001c0001t0005g0284 a0001c0001t0005g0286 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0298	5	342	0.0146	105	c.158 others(122): Show c.1583+226_1583+227insGCAGAACCACCGCCCCGCCCCGCCCGCA GAACCACCGCCCCGCCCCGCCCGCAGAACCACCGCCCCGCCCCGCCCCGC CCCGCCCGCAGAACCACCGCCCCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38743335	G G	GAGCCCCT others(98): Show GAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGCCCCTCCTCCCT CAGACCCAGGAGTCCAGGCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00733.hp2 others(19): Show HG00280.hp1 HG00597.hp1 HG00733.hp2 HG01099.hp1 HG01123.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp2 HG02135.hp2 HG02293.hp2 HG03017.hp2 HG03041.hp2 HG03491.hp1 HG03710.hp1 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18966.hp2 NA18967.hp2 NA19010.hp1 NA19030.hp1 NA20905.hp2	a0001 a0003 a0024 a0001 a0003 a0024	a0001c0006 a0003c0005 a0024c0018 a0001c0006 a0003c0005 a0024c0018	a0001c0006t0004 a0003c0005t0004 a0024c0018t0004 a0001c0006t0004 a0003c0005t0004 a0024c0018t0004	a0001c0006t0004g0025 a0003c0005t0004g0019 a0003c0005t0004g0020 others(19): Show a0001c0006t0004g0025 a0003c0005t0004g0019 a0003c0005t0004g0020 a0003c0005t0004g0021 a0003c0005t0004g0022 a0003c0005t0004g0023 a0003c0005t0004g0024 a0003c0005t0004g0026 a0003c0005t0004g0027 a0003c0005t0004g0028 a0003c0005t0004g0029 a0003c0005t0004g0030 a0003c0005t0004g0031 a0003c0005t0004g0032 a0003c0005t0004g0033 a0003c0005t0004g0034 a0003c0005t0004g0035 a0003c0005t0004g0036 a0003c0005t0004g0037 a0003c0005t0004g0038 a0003c0005t0004g0040 a0024c0018t0004g0039	22	342	0.0643	105	c.238 others(120): Show c.238-234_238-233insGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	1/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38743335	G G	GAGCCCCT others(98): Show GAGCCCCTCCTCCCTCAGACCCGGGAGTCCAGGCCCAGCCCCTCCTCCCT CAGACCCAGGAGTCCAGGCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0018 a0003c0005t0004g0018	1	342	0.0029	105	c.238 others(120): Show c.238-234_238-233insGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGAC TCCCGGGTCTGAGGGAGGAGGGGCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	1/20			chr19	TogoVar
CARD11_chr7_2901142_3048867	2972458	T T	TGTTAAAA others(98): Show TGTTAAAATAAGAGTCTCTGAGGATGCCGTCTGTTGTAGATTTAGAGAGT TGGGGAGTTGGGTGGCCAGGGTTCCACGGGCCGGGAACCCACAAATAAGG AAGCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(69): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00735.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01192.hp1 HG01433.hp2 HG01884.hp1 HG01981.hp2 HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG04184.hp1 HG04204.hp2 NA18906.hp2 NA18944.hp2 NA18971.hp1 NA18981.hp2 NA18999.hp1 NA19005.hp1 NA19009.hp2 NA19043.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0007 a0011 a0017	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0016 a0001c0020 a0001c0021 a0001c0029 a0001c0037 a0001c0044 a0001c0052 a0001c0060 a0002c0035 a0002c0062 a0005c0019 a0006c0026 a0007c0038 a0011c0053 a0017c0046	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(28): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0011 a0001c0002t0015 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0009t0002 a0001c0010t0002 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0016t0002 a0001c0020t0001 a0001c0021t0001 a0001c0029t0001 a0001c0037t0001 a0001c0044t0003 a0001c0052t0001 a0001c0060t0001 a0002c0035t0003 a0002c0062t0003 a0005c0019t0001 a0006c0026t0001 a0007c0038t0001 a0011c0053t0001 a0017c0046t0001	a0001c0001t0001g0042 a0001c0001t0001g0119 a0001c0001t0001g0127 others(69): Show a0001c0001t0001g0042 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0280 a0001c0001t0004g0276 a0001c0002t0001g0018 a0001c0002t0001g0082 a0001c0002t0001g0108 a0001c0002t0001g0115 a0001c0002t0001g0194 a0001c0002t0001g0219 a0001c0002t0001g0225 a0001c0002t0001g0250 a0001c0002t0011g0262 a0001c0002t0015g0322 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0040 a0001c0003t0001g0069 a0001c0003t0001g0083 a0001c0003t0001g0088 a0001c0003t0001g0149 a0001c0003t0001g0247 a0001c0004t0001g0028 a0001c0004t0001g0043 a0001c0004t0001g0173 a0001c0004t0001g0257 a0001c0005t0001g0198 a0001c0005t0001g0251 a0001c0005t0001g0263 a0001c0006t0001g0266 a0001c0008t0001g0031 a0001c0008t0001g0032 a0001c0008t0001g0033 a0001c0008t0001g0062 a0001c0008t0001g0068 a0001c0008t0001g0193 a0001c0008t0001g0275 a0001c0009t0002g0314 a0001c0010t0002g0034 a0001c0010t0002g0059 a0001c0010t0002g0097 a0001c0010t0002g0188 a0001c0010t0002g0283 a0001c0011t0001g0029 a0001c0011t0001g0096 a0001c0011t0001g0309 a0001c0011t0001g0318 a0001c0012t0001g0049 a0001c0013t0001g0265 a0001c0014t0001g0098 a0001c0016t0002g0125 a0001c0020t0001g0297 a0001c0021t0001g0021 a0001c0029t0001g0300 a0001c0037t0001g0271 a0001c0044t0003g0267 a0001c0052t0001g0270 a0001c0060t0001g0260 a0002c0035t0003g0317 a0002c0062t0003g0310 a0005c0019t0001g0298 a0006c0026t0001g0229 a0007c0038t0001g0056 a0011c0053t0001g0287 a0017c0046t0001g0074	72	322	0.2236	105	c.-12 others(126): Show c.-125-13828_-125-13827insTGGCTTCCTTATTTGTGGGTTCCC GGCCCGTGGAACCCTGGCCACCCAACTCCCCAACTCTCTAAATCTACAAC AGACGGCATCCTCAGAGACTCTTATTTTAAC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CCDC171_chr9_15548043_15979037	15883017	C C	CCTTCCTT others(98): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTGGCTGCCTTCCTCCCCTCCCATCCCCTCC CCTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00597.hp1 others(6): Show HG00438.hp2 HG00558.hp1 HG00597.hp1 HG01261.hp2 HG01361.hp1 HG02027.hp1 HG03490.hp1 HG03927.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0013 a0002c0002 a0002c0013	a0002c0002t0002 a0002c0013t0002 a0002c0002t0002 a0002c0013t0002	a0002c0002t0002g0069 a0002c0002t0002g0086 a0002c0002t0002g0087 others(6): Show a0002c0002t0002g0069 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0097 a0002c0002t0002g0105 a0002c0002t0002g0110 a0002c0002t0002g0123 a0002c0002t0002g0142 a0002c0013t0002g0068	9	266	0.0338	105	c.360 others(124): Show c.3600+8356_3600+8357insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTGGCTGCCT TCCTCCCCTCCCATCCCCTCCCCTCCTCT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC18_chr1_93175724_93283730	93282462	C C	CATATATA others(98): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATAAAATACATGTATATAAAATACATA TATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0008 a0002c0001t0001g0008	1	316	0.0032	105	c.39 others(116): Show c.3985_*3986insATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATAAAATACATG TATATAAAATACATATATATA	CCDC18	ENSG00000122483.18	transcript	ENST00000690025.1	protein_coding		3733		chr1	TogoVar
CCDC38_chr12_95862048_95947614	95908636	A A	AGAGGGAG others(98): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03471.hp2 NA18612.hp1 others(8): Show HG00423.hp1 HG03471.hp2 NA18612.hp1 NA18939.hp1 NA18946.hp1 NA18947.hp1 NA18985.hp2 NA18989.hp1 NA18994.hp1 NA19006.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0003 a0001c0002 a0001c0005 a0002c0003	a0001c0002t0001 a0001c0005t0001 a0001c0005t0002 others(2): Show a0001c0002t0001 a0001c0005t0001 a0001c0005t0002 a0002c0003t0001 a0002c0003t0002	a0001c0002t0001g0057 a0001c0002t0001g0230 a0001c0005t0001g0036 others(8): Show a0001c0002t0001g0057 a0001c0002t0001g0230 a0001c0005t0001g0036 a0001c0005t0001g0091 a0001c0005t0002g0278 a0002c0003t0001g0184 a0002c0003t0002g0271 a0002c0003t0002g0287 a0002c0003t0002g0298 a0002c0003t0002g0300 a0002c0003t0002g0304	11	350	0.0314	105	c.305 others(122): Show c.305-2186_305-2185insCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCZ1B_chr7_6793937_6831275	6797861	A A	AAATACAC others(98): Show AAATACACACACACACACACACACACACACACACACACACATATACATAC ACACACACACACACATATATATACACACACATATATATATACACACACAC ACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 NA18953.hp1 NA19006.hp1 others(1): Show HG03492.hp2 NA18953.hp1 NA19006.hp1 NA19087.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0119 a0002c0003t0003g0154 a0002c0003t0003g0157 others(1): Show a0002c0003t0003g0119 a0002c0003t0003g0154 a0002c0003t0003g0157 a0002c0003t0003g0161	4	354	0.0113	105	c.13 others(116): Show c.1362_*1363insATGTGTGTGTGTGTGTATATATATATGTGTGTGT ATATATATGTGTGTGTGTGTGTGTATGTATATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTATT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1075		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6797863	A A	ATACACAC others(98): Show ATACACACACACACACACACACACACACACACACACACACACATACATAC ACACACACACACACATATATATACACACACATATATATATACACACACAC ACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0124 a0002c0003t0003g0124	1	354	0.0028	105	c.13 others(116): Show c.1360_*1361insATGTGTGTGTGTGTGTATATATATATGTGTGTGT ATATATATGTGTGTGTGTGTGTGTATGTATGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1073		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6797863	A A	ATACACAC others(98): Show ATACACACACACACACACACACACACACACACACACACACATATACATAC ACACACACACACACATATATATACACACACATATATATATACACACACAC ACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01099.hp1 others(18): Show HG00099.hp1 HG00741.hp2 HG01099.hp1 HG01261.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG02004.hp1 HG02300.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0009 a0002c0003t0003 a0002c0003t0004 others(1): Show a0001c0001t0009 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005	a0001c0001t0009g0274 a0001c0001t0009g0282 a0002c0003t0003g0110 others(15): Show a0001c0001t0009g0274 a0001c0001t0009g0282 a0002c0003t0003g0110 a0002c0003t0003g0112 a0002c0003t0003g0139 a0002c0003t0003g0140 a0002c0003t0003g0155 a0002c0003t0003g0169 a0002c0003t0003g0170 a0002c0003t0004g0159 a0002c0003t0005g0004 a0002c0003t0005g0022 a0002c0003t0005g0141 a0002c0003t0005g0142 a0002c0003t0005g0143 a0002c0003t0005g0158 a0002c0003t0005g0174 a0002c0003t0005g0175	21	354	0.0593	105	c.13 others(116): Show c.1360_*1361insATGTGTGTGTGTGTGTATATATATATGTGTGTGT ATATATATGTGTGTGTGTGTGTGTATGTATATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1073		chr7	TogoVar
CD81_chr11_2372310_2402397	2385603	T T	TGTCGTCT others(98): Show TGTCGTCTGTGCACCCGTGCTGTGGCGTGCCTGTTGTCTGTGTGGCATGC CTGTCGTCTGTGCACCCATGCTGTGGCGTGCCTGTTGTCTGTGTGGCATG CCTGTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02004.hp1 HG02145.hp1 others(30): Show HG00639.hp2 HG02004.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp2 NA18967.hp2 NA18974.hp1 NA18979.hp2 NA18983.hp2 NA18991.hp1 NA18998.hp1 NA19011.hp2 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0013 a0001c0004t0005 a0001c0004t0018	a0001c0001t0001g0061 a0001c0002t0002g0007 a0001c0002t0002g0020 others(21): Show a0001c0001t0001g0061 a0001c0002t0002g0007 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0032 a0001c0002t0002g0059 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0005g0072 a0001c0002t0005g0073 a0001c0002t0013g0021 a0001c0004t0005g0034 a0001c0004t0005g0070 a0001c0004t0005g0071 a0001c0004t0005g0080 a0001c0004t0005g0081 a0001c0004t0018g0034	33	388	0.0851	105	c.67- others(120): Show c.67-4806_67-4805insGTCTGTGCACCCGTGCTGTGGCGTGCCTGT TGTCTGTGTGGCATGCCTGTCGTCTGTGCACCCATGCTGTGGCGTGCCTG TTGTCTGTGTGGCATGCCTGTCGTC	CD81	ENSG00000110651.13	transcript	ENST00000263645.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
CD81_chr11_2372310_2402397	2385603	T T	TGTCGTCT others(98): Show TGTCGTCTGTGCACCCGTGCTGTGGCGTGCCTGTTGTCTGTGTGGCATGC CTGTCGTCTGTGCACCCATGCTGTGGTGTGCCTGTTGTCTGTGTGGCATG CCTGTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	388	0.0026	105	c.67- others(120): Show c.67-4806_67-4805insGTCTGTGCACCCGTGCTGTGGCGTGCCTGT TGTCTGTGTGGCATGCCTGTCGTCTGTGCACCCATGCTGTGGTGTGCCTG TTGTCTGTGTGGCATGCCTGTCGTC	CD81	ENSG00000110651.13	transcript	ENST00000263645.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
CDH12_chr5_21745673_22858344	21833044	A A	ATATATAT others(98): Show ATATATATTATATGTTATATAACATATAATATATAATATATATTATATGT TATATAACATATAATATATAATATATATTATATGTTATATAACATATAAT ATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0044 a0001c0001t0008g0044	1	60	0.0167	105	c.814 others(122): Show c.814+9116_814+9117insATATATATTATATGTTATATAACATATA ATATATATTATATATTATATGTTATATAACATATAATATATATTATATAT TATATGTTATATAACATATAATATATA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	8/14			chr5	TogoVar
CDH15_chr16_89166748_89200492	89182135	C C	CAGCCTGC others(98): Show CAGCCTGCCCTCCCCCAGCCTCCCCTCCCCCAGCCTGCCCTCCCCCAGCC TGCCCTCCCCAAGCCTCCCCTCCCCCAGCCTGCCCTCCCCCAGCCTGCCC TCCCCA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0278 a0002c0002t0001g0278	1	406	0.0025	105	c.358 others(122): Show c.358-1408_358-1407insGCCCTCCCCCAGCCTCCCCTCCCCCAGC CTGCCCTCCCCCAGCCTGCCCTCCCCAAGCCTCCCCTCCCCCAGCCTGCC CTCCCCCAGCCTGCCCTCCCCAAGCCT	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH15_chr16_89166748_89200492	89192563	C C	CCCCCTCA others(98): Show CCCCCTCATTACCAGCCACGCCGCTTCCTCCCAGCTCCGCCTCCTCCCTA CCCGCCCGTCTTACCAGCCACGCCGCTTCCTCCAGCTCCGCCTCCTCCTA ACCCCG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0152 a0002c0021t0001g0152	1	406	0.0025	105	c.185 others(122): Show c.1855+150_1855+151insAGCTCCGCCTCCTCCCTACCCGCCCGTC TTACCAGCCACGCCGCTTCCTCCAGCTCCGCCTCCTCCTAACCCCGCCCC TCATTACCAGCCACGCCGCTTCCTCCC	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CELF4_chr18_37238040_37570798	37337987	C C	CCATTGTC others(98): Show CCATTGTCACCACTACTGTCACTGCCACCACCACCACTGTCGCTGCCACC ATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACACCATTGTCAC CACTAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18983.hp2 HG04199.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0071 a0001c0001t0001g0084	2	184	0.0109	105	c.370 others(124): Show c.370-16107_370-16106insATAGTGGTGACAATGGTGTCAGTGAC AGTCATAGTGACAAGGTTAAGGTAACAGATGGTGGCAGCGACAGTGGTGG TGGTGGCAGTGACAGTAGTGGTGACAATG	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37338276	T T	TGTCACTG others(98): Show TGTCACTGACACCATTGTCACCACTATCATTGTCACCACTACTGTCACTG CCACCACCACCACTGTCGCTGCCACCATCTGTTACCTTAACCTTGTCACT ATGACC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0021 a0001c0001t0017g0021	1	184	0.0054	105	c.370 others(124): Show c.370-16396_370-16395insGGTCATAGTGACAAGGTTAAGGTAAC AGATGGTGGCAGCGACAGTGGTGGTGGTGGCAGTGACAGTAGTGGTGACA ATGATAGTGGTGACAATGGTGTCAGTGAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37338381	T T	TGTCACTG others(98): Show TGTCACTGACACCATTGTCACCACTATCATTGTCACCACTACTGTCACTG CCACCACCACCACTGTCGCTGCCACCATCTGTTACCTTAACCTTGTCACT ATGACC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp1 HG04184.hp1 HG02109.hp2 HG02965.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0003 a0001c0001t0002 a0001c0001t0006 a0001c0002t0003	a0001c0001t0002g0171 a0001c0001t0006g0041 a0001c0002t0003g0064 a0001c0001t0002g0171 a0001c0001t0006g0041 a0001c0002t0003g0064	3	184	0.0163	105	c.370 others(124): Show c.370-16501_370-16500insGGTCATAGTGACAAGGTTAAGGTAAC AGATGGTGGCAGCGACAGTGGTGGTGGTGGCAGTGACAGTAGTGGTGACA ATGATAGTGGTGACAATGGTGTCAGTGAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELSR1_chr22_46356174_46542620	46366255	A A	AGAAAGGT others(98): Show AGAAAGGTGGGGGGGAGGAGAGGTGCACGGGGGGAGGAGAGGTGCACAGG GGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGG GGGGAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03834.hp1 HG01099.hp1 HG03834.hp1	a0001 a0021 a0001 a0021	a0001c0004 a0021c0030 a0001c0004 a0021c0030	a0001c0004t0001 a0021c0030t0001 a0001c0004t0001 a0021c0030t0001	a0001c0004t0001g0032 a0021c0030t0001g0033 a0001c0004t0001g0032 a0021c0030t0001g0033	2	104	0.0192	105	c.830 others(122): Show c.8300+130_8300+131insCTCCCCCCGCACCTTTCCTCCCCCCGCA CCTTTCCTCCCCCCGCACCTTTCCTCCCCCTGTGCACCTCTCCTCCCCCC GTGCACCTCTCCTCCCCCCCACCTTTC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46366255	A A	AGAAAGGT others(98): Show AGAAAGGTGGGGGGGAGGAGAGGTGCACGGGGGGAGGAGAGGTGCACGGG GGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGG GGGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00609.hp1 others(53): Show HG00099.hp1 HG00099.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03195.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04228.hp1 NA18612.hp1 NA18970.hp1 NA18970.hp2 NA18995.hp1 NA18995.hp2 NA19066.hp1 NA19066.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0004 a0006 others(10): Show a0001 a0004 a0006 a0009 a0014 a0016 a0022 a0025 a0030 a0034 a0036 a0038 a0039	a0001c0001 a0001c0002 a0001c0004 others(24): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0025 a0001c0027 a0001c0028 a0001c0029 a0001c0031 a0001c0034 a0001c0039 a0001c0040 a0001c0044 a0004c0003 a0006c0017 a0006c0026 a0009c0053 a0009c0054 a0014c0055 a0016c0047 a0022c0050 a0025c0024 a0030c0036 a0034c0032 a0036c0056 a0038c0007 a0039c0068	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(28): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0001c0025t0001 a0001c0027t0001 a0001c0028t0001 a0001c0029t0001 a0001c0031t0001 a0001c0034t0001 a0001c0039t0001 a0001c0040t0001 a0001c0044t0001 a0004c0003t0001 a0004c0003t0015 a0006c0017t0001 a0006c0026t0001 a0009c0053t0001 a0009c0054t0001 a0014c0055t0001 a0016c0047t0001 a0022c0050t0001 a0025c0024t0001 a0030c0036t0001 a0034c0032t0001 a0036c0056t0001 a0038c0007t0001 a0039c0068t0001	a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0041 others(53): Show a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0011g0028 a0001c0001t0012g0034 a0001c0001t0014g0060 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0004t0001g0057 a0001c0006t0001g0044 a0001c0006t0001g0064 a0001c0025t0001g0070 a0001c0027t0001g0040 a0001c0028t0001g0079 a0001c0029t0001g0038 a0001c0031t0001g0047 a0001c0034t0001g0058 a0001c0039t0001g0073 a0001c0040t0001g0088 a0001c0044t0001g0027 a0004c0003t0001g0008 a0004c0003t0001g0009 a0004c0003t0015g0010 a0006c0017t0001g0018 a0006c0026t0001g0048 a0009c0053t0001g0090 a0009c0054t0001g0089 a0014c0055t0001g0091 a0016c0047t0001g0035 a0022c0050t0001g0055 a0025c0024t0001g0046 a0030c0036t0001g0076 a0034c0032t0001g0083 a0036c0056t0001g0092 a0038c0007t0001g0004 a0039c0068t0001g0102	56	104	0.5385	105	c.830 others(122): Show c.8300+130_8300+131insCTCCCCCCGCACCTTTCCTCCCCCCGCA CCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGTGCACCTCTCCTCCCCCC GTGCACCTCTCCTCCCCCCCACCTTTC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CEMIP_chr15_80774370_80956771	80911950	G G	GGATTGCT others(98): Show GGATTGCTGGGAAAGGCTGGGAGAGCTGGGAGAGGCTGGGAGAGCTGGGA GAGGCTGTGATTGCTGGGAGAGGCTGGGAGAGGCTGGGAGAGCTGGGAGA CGCTGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	254	0.0039	105	c.179 others(124): Show c.1797+2743_1797+2744insCGCTGAGATTGCTGGGAAAGGCTGGG AGAGCTGGGAGAGGCTGGGAGAGCTGGGAGAGGCTGTGATTGCTGGGAGA GGCTGGGAGAGGCTGGGAGAGCTGGGAGA	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80911950	G G	GGATTGCT others(98): Show GGATTGCTGGGAAAGGCTGGGAGAGCTGGGAGAGGCTGGGAGAGCTGGGA GAGGCTGTGATTGCTGGGAGAGGCTGGGAGAGGCTGGGAGAGCTGGGAGA GGCTGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(149): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18959.hp1 NA18959.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0026 a0001c0034 a0002c0031 a0003c0009 a0004c0016 a0005c0015 a0006c0018 a0007c0035 a0009c0025 a0011c0027 a0012c0023 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0024 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0005t0003 a0001c0005t0008 a0001c0007t0003 a0001c0007t0013 a0001c0008t0003 a0001c0010t0001 a0001c0026t0001 a0001c0034t0001 a0002c0031t0001 a0003c0009t0001 a0004c0016t0001 a0005c0015t0001 a0005c0015t0012 a0006c0018t0001 a0006c0018t0002 a0007c0035t0001 a0009c0025t0001 a0011c0027t0002 a0012c0023t0001 a0013c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(149): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0142 a0001c0001t0002g0169 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0238 a0001c0001t0009g0166 a0001c0001t0009g0167 a0001c0001t0010g0131 a0001c0001t0014g0214 a0001c0001t0015g0024 a0001c0001t0019g0149 a0001c0001t0024g0004 a0001c0002t0001g0127 a0001c0003t0001g0116 a0001c0003t0001g0118 a0001c0003t0004g0133 a0001c0005t0003g0122 a0001c0005t0003g0162 a0001c0005t0008g0018 a0001c0005t0008g0115 a0001c0005t0008g0187 a0001c0007t0003g0054 a0001c0007t0013g0205 a0001c0008t0003g0073 a0001c0008t0003g0140 a0001c0010t0001g0136 a0001c0010t0001g0165 a0001c0026t0001g0010 a0001c0034t0001g0021 a0002c0031t0001g0047 a0003c0009t0001g0014 a0003c0009t0001g0099 a0003c0009t0001g0101 a0004c0016t0001g0023 a0004c0016t0001g0184 a0005c0015t0001g0078 a0005c0015t0012g0217 a0006c0018t0001g0106 a0006c0018t0002g0226 a0007c0035t0001g0160 a0009c0025t0001g0025 a0011c0027t0002g0178 a0012c0023t0001g0157 a0013c0021t0001g0087	152	254	0.5984	105	c.179 others(124): Show c.1797+2701_1797+2805dupTGATTGCTGGGAGAGGCTGGGAGAGG CTGGGAGAGCTGGGAGAGGCTGAGATTGCTGGGAAAGGCTGGGAGAGCTG GGAGAGGCTGGGAGAGCTGGGAGAGGCTG	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80911950	G G	GGATTGCT others(98): Show GGATTGCTGGGAAAGGCTGGGAGAGCTGGGAGAGGCTGTGAGAGCTGGGA GAGGCTGTGATTGCTGGGAGAGGCTGGGAGAGGCTGGGAGAGCTGGGAGA GGCTGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 HG02809.hp1 others(2): Show HG02615.hp1 HG02723.hp2 HG02809.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0003t0005	a0001c0001t0001g0109 a0001c0001t0001g0243 a0001c0001t0005g0138 others(2): Show a0001c0001t0001g0109 a0001c0001t0001g0243 a0001c0001t0005g0138 a0001c0003t0001g0250 a0001c0003t0005g0105	5	254	0.0197	105	c.179 others(124): Show c.1797+2681_1797+2682insTGAGAGCTGGGAGAGGCTGTGATTGC TGGGAGAGGCTGGGAGAGGCTGGGAGAGCTGGGAGAGGCTGAGATTGCTG GGAAAGGCTGGGAGAGCTGGGAGAGGCTG	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAAAA others(98): Show AAAAAAAAAAGATGGTCCTGAGTTGATAATTCAAACTGGCCAATATGTAT ATGGGTGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAATTTAC TATAAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0202 a0002c0002t0002g0202	1	362	0.0028	105	c.478 others(122): Show c.478-1174_478-1173insAAAGATGGTCCTGAGTTGATAATTCAAA CTGGCCAATATGTATATGGGTGTTCATGATAACATTCTCTCTTACTGTAT GTGTTTGAAATTTACTATAATAAAAAA	CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAAAA others(98): Show AAAAAAAAAAGATGGTCCTGAGTTGATAATTGAAACTGGCCAATATGTAT ATGGGTGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAATTTAC TATAAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01255.hp1 others(42): Show HG00438.hp2 HG00544.hp2 HG01255.hp1 HG01891.hp2 HG01978.hp1 HG01993.hp1 HG02056.hp1 HG02132.hp2 HG02135.hp2 HG02258.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03669.hp2 HG04115.hp2 HG04184.hp2 NA18939.hp2 NA18941.hp1 NA18960.hp1 NA18964.hp1 NA18969.hp2 NA18978.hp2 NA18979.hp2 NA18985.hp2 NA18989.hp2 NA18991.hp2 NA18995.hp2 NA18997.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19067.hp2 NA19072.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0002 a0004c0004 a0006c0006 a0002c0002 a0004c0004 a0006c0006	a0002c0002t0002 a0002c0002t0008 a0004c0004t0004 others(1): Show a0002c0002t0002 a0002c0002t0008 a0004c0004t0004 a0006c0006t0004	a0002c0002t0002g0004 a0002c0002t0002g0015 a0002c0002t0002g0035 others(20): Show a0002c0002t0002g0004 a0002c0002t0002g0015 a0002c0002t0002g0035 a0002c0002t0002g0040 a0002c0002t0002g0184 a0002c0002t0002g0187 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0200 a0002c0002t0002g0203 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0222 a0002c0002t0008g0199 a0004c0004t0004g0005 a0004c0004t0004g0038 a0004c0004t0004g0039 a0004c0004t0004g0189 a0004c0004t0004g0206 a0004c0004t0004g0209 a0006c0006t0004g0039 a0006c0006t0004g0210	45	362	0.1243	105	c.478 others(122): Show c.478-1174_478-1173insAAAGATGGTCCTGAGTTGATAATTGAAA CTGGCCAATATGTATATGGGTGTTCATGATAACATTCTCTCTTACTGTAT GTGTTTGAAATTTACTATAATAAAAAA	CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP72_chr5_607340_658553	649992	G G	GACTGTGA others(98): Show GACTGTGAGGTGTGACTGTGAGGCGTGGATTGTGAGGTGTGACTGTGAGG CGTGACTGTGAGGCGTGACTGTGAGGCGTGGACTGTGAGGCGTGACTGTG AGGCGT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	91	0.0110	105	c.177 others(124): Show c.1778+2076_1778+2077insACTGTGAGGTGTGACTGTGAGGCGTG GATTGTGAGGTGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGC GTGGACTGTGAGGCGTGACTGTGAGGCGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CFAP46_chr10_132803392_132947570	132917898	T T	TGCACCTC others(98): Show TGCACCTCAGCACCGATGAACCCCCCTCTCCACGACGCACCTCAGCACCG ATGAACCCCCCTCTCCACGACGCACCTCAGCACCGATGAACCCCCCTCTC CACGAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp2 HG01891.hp1 others(14): Show HG01106.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02809.hp2 HG03017.hp1 HG03225.hp2 HG03453.hp2 HG03669.hp1 HG06807.hp2 NA20129.hp2	a0005 a0010 a0012 others(7): Show a0005 a0010 a0012 a0013 a0025 a0050 a0051 a0061 a0066 a0068	a0005c0013 a0005c0047 a0010c0011 others(9): Show a0005c0013 a0005c0047 a0010c0011 a0012c0076 a0013c0022 a0013c0061 a0025c0033 a0050c0104 a0051c0105 a0061c0092 a0066c0077 a0068c0071	a0005c0013t0001 a0005c0047t0001 a0010c0011t0001 others(9): Show a0005c0013t0001 a0005c0047t0001 a0010c0011t0001 a0012c0076t0001 a0013c0022t0001 a0013c0061t0001 a0025c0033t0001 a0050c0104t0001 a0051c0105t0001 a0061c0092t0001 a0066c0077t0001 a0068c0071t0002	a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0047t0001g0216 others(14): Show a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0047t0001g0216 a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 a0012c0076t0001g0131 a0013c0022t0001g0157 a0013c0022t0001g0158 a0013c0061t0001g0156 a0025c0033t0001g0238 a0050c0104t0001g0236 a0051c0105t0001g0239 a0061c0092t0001g0125 a0066c0077t0001g0127 a0068c0071t0002g0003	17	246	0.0691	105	c.198 others(122): Show c.1986+390_1986+494dupGTCGTGGAGAGGGGGGTTCATCGGTGCT GAGGTGCGTCGTGGAGAGGGGGGTTCATCGGTGCTGAGGTGCGTCGTGGA GAGGGGGGTTCATCGGTGCTGAGGTGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	16/57			chr10	TogoVar
CFAP65_chr2_218997846_219046516	219009687	G G	GGGGTGGG others(98): Show GGGGTGGGATGGGATGGAGTGGGGTGGGATGGAGTAGAATGGGGTGGGGT GGGATGGGATGGGATGGAGTGGGGTGGGATGGGATGGGATGGAGTGGGGT GGGATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0247	1	322	0.0031	105	c.445 others(122): Show c.4452+150_4453-228dupTATCCCACCCCACTCCATCCCATCCCAT CCCACCCCACTCCATCCCATCCCATCCCACCCCACCCCATTCTACTCCAT CCCACCCCACTCCATCCCATCCCACCC	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding	27/34			chr2	TogoVar
CFAP74_chr1_1916957_2008786	1924216	G G	GCTCACAC others(98): Show GCTCACACGACCACCCCCCAGCTCACAGCCCACCCCACCATCTCACGCCC AGCCCCCCCCATCTCACCAGCTGCCCCCCTCCCCGGCACACCGCCCACCC CCCCAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0034 a0034	a0034c0038 a0034c0038	a0034c0038t0004 a0034c0038t0004	a0034c0038t0004g0252 a0034c0038t0004g0252	1	278	0.0036	105	c.423 others(122): Show c.4234+174_4234+175insATGGGGGGGTGGGCGGTGTGCCGGGGAG GGGGGCAGCTGGTGAGATGGGGGGGGCTGGGCGTGAGATGGTGGGGTGGG CTGTGAGCTGGGGGGTGGTCGTGTGAG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1981798	G G	GCGGGGGC others(98): Show GCGGGGGCACGCAGGACACCCAGCCGCGGTCACACGCGGGGGCACGCAGG ACACCCAACCGCGGACAGACACGGGGGCACGCAGGACACCCAGCCGCGGA CAGACA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	278	0.0036	105	c.500 others(122): Show c.500+3587_500+3588insTGTCTGTCCGCGGCTGGGTGTCCTGCGT GCCCCCGTGTCTGTCCGCGGTTGGGTGTCCTGCGTGCCCCCGCGTGTGAC CGCGGCTGGGTGTCCTGCGTGCCCCCG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CFI_chr4_109735695_109806999	109756918	A A	AAAGAAAG others(98): Show AAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0307 a0002c0003t0001g0307	1	354	0.0028	105	c.904 others(120): Show c.904+844_904+845insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCTTTCTTTCTTTCTT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CHCHD6_chr3_126699240_126965420	126865068	T T	TCCACCAC others(98): Show TCCACCACCTCCACTTCTTCCTCCTCCTCCTCCACCACCACCTCCACTTC TTCCTCCTCCTCCTCCACCACCACCTCCACTTCTTCCTCCTCCTCCTCCT CCTCCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18998.hp2 HG01081.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0182 a0001c0001t0001g0145 a0001c0001t0001g0182	2	216	0.0093	105	c.495 others(124): Show c.495+12403_495+12404insACCACCACCTCCACTTCTTCCTCCTC CTCCTCCTCCTCCACCACCACCTCCACTTCTTCCTCCTCCTCCTCCACCA CCACCTCCACTTCTTCCTCCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHFR_chr12_132827356_132892605	132835932	A A	ACAGGCTC others(98): Show ACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCA CAGTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0055 a0005c0009t0055	a0005c0009t0055g0106 a0005c0009t0055g0106	1	378	0.0027	105	c.56 others(116): Show c.5621_*5622insGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCC GTGCGCCGTGCTGGGAGCCTG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5621		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836132	A A	ACTCACAG others(98): Show ACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGCCAGG CTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGC ACGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0145 a0001c0001t0145	a0001c0001t0145g0312 a0001c0001t0145g0312	1	378	0.0027	105	c.54 others(116): Show c.5421_*5422insGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGA GGGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGGGCCGTGCGCCGTG CTGGGAGCCTGGCACTGTGAG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5421		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836156	C C	CGGCGCAC others(98): Show CGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTC ACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCC CAGCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0065 a0001c0001t0091g0065	1	378	0.0027	105	c.53 others(116): Show c.5397_*5398insCTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGC CGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTG TCACTGTGAGGGCCGTGCGCC	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5397		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836247	C C	CCAGGCTC others(98): Show CCAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCAC GGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCA CAGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0054 a0005c0009t0054	a0005c0009t0054g0118 a0005c0009t0054g0118	1	378	0.0027	105	c.53 others(116): Show c.5306_*5307insTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT GTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCC GTGCGCCGTGCTGGGAGCCTG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5306		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836482	A A	ACTCACAG others(98): Show ACTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGGCGCACGGCACTCACAGTGACAGGCTCCCAGCACGGCGC TCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG01433.hp1 others(18): Show HG01109.hp2 HG01175.hp2 HG01433.hp1 HG01934.hp2 HG02129.hp1 HG02145.hp1 HG02698.hp1 HG02809.hp2 HG03041.hp1 HG03453.hp1 HG03540.hp1 NA18906.hp1 NA18954.hp2 NA18962.hp1 NA18968.hp1 NA19000.hp1 NA19055.hp2 NA19063.hp1 NA19084.hp1 NA19091.hp2 NA19240.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0006 a0002c0002 a0003c0003 a0004c0006	a0002c0002t0048 a0002c0002t0049 a0002c0002t0132 others(9): Show a0002c0002t0048 a0002c0002t0049 a0002c0002t0132 a0002c0002t0133 a0002c0002t0142 a0003c0003t0020 a0003c0003t0068 a0003c0003t0069 a0004c0006t0031 a0004c0006t0032 a0004c0006t0134 a0004c0006t0135	a0002c0002t0048g0040 a0002c0002t0048g0044 a0002c0002t0049g0042 others(18): Show a0002c0002t0048g0040 a0002c0002t0048g0044 a0002c0002t0049g0042 a0002c0002t0049g0043 a0002c0002t0132g0047 a0002c0002t0133g0041 a0002c0002t0142g0068 a0003c0003t0020g0319 a0003c0003t0020g0320 a0003c0003t0020g0322 a0003c0003t0020g0324 a0003c0003t0068g0321 a0003c0003t0069g0323 a0004c0006t0031g0161 a0004c0006t0031g0162 a0004c0006t0031g0163 a0004c0006t0032g0156 a0004c0006t0032g0159 a0004c0006t0032g0160 a0004c0006t0134g0157 a0004c0006t0135g0164	21	378	0.0556	105	c.50 others(116): Show c.5071_*5072insGGCCGAGCGCCGTGCTGGGAGCCTGTCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGTGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5071		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836482	A A	ACTCACAG others(98): Show ACTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGGCGCTCGGCACTCACAGTGACAGGCTCCCAGCACGGCGC TCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0125 a0002c0002t0125	a0002c0002t0125g0066 a0002c0002t0125g0066	1	378	0.0027	105	c.50 others(116): Show c.5071_*5072insGGCCGAGCGCCGTGCTGGGAGCCTGTCACTGTGA GTGCCGAGCGCCGTGCTGGGAGCCTGTCACTGTGAGTGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5071		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836482	A A	ACTCACAG others(98): Show ACTCACAGTGACAGGCTCCCAGCAGGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGCCGCACGGCACTCACAGTGACAGGCTCCCAGCACGGCGC TCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0136 a0002c0002t0136	a0002c0002t0136g0085 a0002c0002t0136g0085	1	378	0.0027	105	c.50 others(116): Show c.5071_*5072insGGCCGAGCGCCGTGCTGGGAGCCTGTCACTGTGA GTGCCGTGCGGCGTGCTGGGAGCCTGTCACTGTGAGTGCCGTGCGCCCTG CTGGGAGCCTGTCACTGTGAG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5071		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836482	A A	ACTCACAG others(98): Show ACTCACAGTGACAGGCTCCCAGCAGGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGGCGCACGGCACTCACAGTGACAGGCTCCCAGCACGGCGC TCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(73): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02602.hp2 HG02647.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03017.hp1 HG03130.hp2 HG03486.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp1 NA18960.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18984.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19066.hp2 NA19083.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0007 a0002c0011 others(2): Show a0002c0002 a0002c0007 a0002c0011 a0002c0013 a0006c0014	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(20): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0046 a0002c0002t0047 a0002c0002t0120 a0002c0002t0121 a0002c0002t0122 a0002c0002t0123 a0002c0002t0126 a0002c0002t0128 a0002c0002t0129 a0002c0002t0130 a0002c0002t0139 a0002c0002t0140 a0002c0002t0141 a0002c0007t0002 a0002c0011t0124 a0002c0013t0005 a0006c0014t0002	a0002c0002t0002g0009 a0002c0002t0002g0045 a0002c0002t0002g0046 others(69): Show a0002c0002t0002g0009 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0055 a0002c0002t0002g0062 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0094 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0113 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0122 a0002c0002t0004g0006 a0002c0002t0004g0054 a0002c0002t0004g0070 a0002c0002t0004g0074 a0002c0002t0004g0075 a0002c0002t0004g0077 a0002c0002t0004g0108 a0002c0002t0004g0110 a0002c0002t0004g0111 a0002c0002t0004g0120 a0002c0002t0004g0165 a0002c0002t0004g0166 a0002c0002t0005g0008 a0002c0002t0005g0071 a0002c0002t0005g0087 a0002c0002t0005g0088 a0002c0002t0005g0090 a0002c0002t0005g0092 a0002c0002t0005g0093 a0002c0002t0005g0099 a0002c0002t0005g0107 a0002c0002t0005g0112 a0002c0002t0005g0114 a0002c0002t0028g0056 a0002c0002t0028g0057 a0002c0002t0028g0060 a0002c0002t0029g0078 a0002c0002t0029g0097 a0002c0002t0029g0167 a0002c0002t0030g0101 a0002c0002t0030g0102 a0002c0002t0030g0103 a0002c0002t0046g0082 a0002c0002t0046g0083 a0002c0002t0047g0010 a0002c0002t0120g0091 a0002c0002t0121g0061 a0002c0002t0122g0058 a0002c0002t0123g0109 a0002c0002t0126g0117 a0002c0002t0128g0051 a0002c0002t0129g0119 a0002c0002t0130g0095 a0002c0002t0139g0063 a0002c0002t0140g0096 a0002c0002t0141g0084 a0002c0007t0002g0064 a0002c0007t0002g0069 a0002c0011t0124g0059 a0002c0013t0005g0121 a0006c0014t0002g0049	76	378	0.2011	105	c.50 others(116): Show c.5071_*5072insGGCCGAGCGCCGTGCTGGGAGCCTGTCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGTGCCGTGCGCCCTG CTGGGAGCCTGTCACTGTGAG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5071		chr12	TogoVar
CHMP7_chr8_23238637_23266999	23262617	C C	CCTGAATA others(98): Show CCTGAATAAAGGACCTGATGAGAAGGGCGAGGGACTGGAGCTCACAGGCC CTGCGGAAGAGGGCAACCGCTCTTCCATTCCTTCTGCTGGAAGGAAGTGG CCTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	438	0.0023	105	c.20 others(116): Show c.2018_*2019insCTGAATAAAGGACCTGATGAGAAGGGCGAGGGAC TGGAGCTCACAGGCCCTGCGGAAGAGGGCAACCGCTCTTCCATTCCTTCT GCTGGAAGGAAGTGGCCTGGA	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		619		chr8	TogoVar
CHRM2_chr7_136863652_137025213	136867924	G G	GATATATA others(98): Show GATATATATATCCTGGACATATATATATATATATATATATATATTCTGGA TATATATATCCTGGACATATATATATATATATTCTGGATATATATATATT CTGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0052 a0001c0001t0014g0052	1	320	0.0031	105	c.-13 others(116): Show c.-1351_-1350insATATATATATCCTGGACATATATATATATATATA TATATATATTCTGGATATATATATCCTGGACATATATATATATATATTCT GGATATATATATATTCTGGAT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		727		chr7	TogoVar
CHST15_chr10_124002668_124098598	124044115	A A	AGGAACGG others(98): Show AGGAACGGCACAGAGCAGAGGACCGGCACAGAGCAGGAAACGGCACAGAG CTTGGGAGCGGCACAGAGCTTGGGAGCGGCACAGAGCTGGGAGCGGCACA GAGCAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0002 a0007c0020t0002	a0007c0020t0002g0247 a0007c0020t0002g0247	1	392	0.0026	105	c.886 others(120): Show c.886+360_886+464dupCTGCTCTGTGCCGCTCCCAGCTCTGTGCCG CTCCCAAGCTCTGTGCCGCTCCCAAGCTCTGTGCCGTTTCCTGCTCTGTG CCGGTCCTCTGCTCTGTGCCGTTCC	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	3/7			chr10	TogoVar
CHST8_chr19_33616953_33778506	33760264	G G	GCCCTTTC others(98): Show GCCCTTTCTTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCTCTCTTTCTTTCTCTTTCTTTCCCTTTCCTCCCCTCCCTCC CTCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(96): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02015.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02735.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18944.hp1 NA18954.hp2 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18990.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19070.hp2 NA19088.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0007 a0005c0004 a0001c0001 a0002c0007 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0002c0007t0001 a0005c0004t0001	a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0031 others(96): Show a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0011 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0175 a0001c0001t0003g0184 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0007 a0001c0001t0004g0010 a0001c0001t0005g0082 a0001c0001t0005g0084 a0001c0001t0008g0120 a0001c0001t0011g0004 a0002c0007t0001g0227 a0005c0004t0001g0088	99	254	0.3898	105	c.131 others(124): Show c.131-11144_131-11143insTCTTCCCTCCCTCTCTCCTTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTTTCTTTCTCTTTCTTTCC CTTTCCTCCCCTCCCTCCCTCCCTCCCTT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCCCCC others(98): Show GCCCCCCCCGTGCTGCCCGTGTGGCTGTCCCCTCCCCCGTGCCCCCCCCG TGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGCCCCGCCCCTC CCCTCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0001 a0020c0018t0001	a0020c0018t0001g0083 a0020c0018t0001g0083	1	428	0.0023	105	c.217 others(122): Show c.2176-102_2176-101insCCCCCGTGCTGCCCGTGTGGCTGTCCCC TCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGC CGCCCCGCCCCGCCCCTCCCCTCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLPTM1L_chr5_1312752_1350099	1333024	C C	CGGATAAG others(98): Show CGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGAC TACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACC GGATGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01168.hp2 others(3): Show HG00639.hp2 HG00738.hp2 HG01168.hp2 HG01261.hp2 HG01346.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0140 a0001c0001t0001g0141 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0169 a0001c0001t0001g0170	6	370	0.0162	105	c.892 others(122): Show c.892-1142_892-1141insTCATCCGGTGTGTATACAGTAGTCCCCC CTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGG TGTGTATACAGTAGTCCCCCCTTATCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333420	G G	GGATGAGG others(98): Show GGATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGGATAAGGG GGGACTATTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATAC ACACCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03834.hp1 HG02004.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0254 a0001c0001t0001g0203 a0001c0001t0001g0254	2	370	0.0054	105	c.891 others(120): Show c.891+764_891+868dupTGGTGTGTATACAGTAGTCCCCCCTTATCC TCATCTGGTGTGTATACAATAGTCCCCCCTTATCCTCATCCAATGTGTAT ACAGTAGTCCCCCCTTATCCTCATC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333525	A A	AGATGAGG others(98): Show AGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGG GGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATAC ACACGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG03491.hp2 others(2): Show HG00280.hp2 HG00741.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0223 a0001c0001t0001g0224 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225	5	370	0.0135	105	c.891 others(120): Show c.891+763_891+764insCCGTGTGTATACAGTAGTCCCCCCTTATCC TCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTAT ACAGTAGTCCCCCCTTATCCTCATC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333769	T T	TGAGGATA others(98): Show TGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGG ACTACTGTAGACACACCGGATGAGGACAAGCGGGAACTACTGTATACACA CCGGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01243.hp2 HG01515.hp1 others(11): Show HG00280.hp1 HG01243.hp2 HG01515.hp1 HG02055.hp1 HG02258.hp2 HG02559.hp2 HG02630.hp1 HG02818.hp1 HG02896.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0247 others(11): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0247 a0001c0001t0002g0257 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0303 a0001c0001t0002g0304	14	370	0.0378	105	c.891 others(120): Show c.891+519_891+520insTTCCGGTGTGTATACAGTAGTTCCCGCTTG TCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTG TATACAGTAGTCCCCCCTTATCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNOT3_chr19_54132762_54160681	54133769	C C	CTCTTCCT others(98): Show CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTGTCCTCCCTCTCTCCACCTCCCCTC TCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	223	0.0045	105	c.-42 others(116): Show c.-4275_-4274insTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCTCCCTC TCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3992		chr19	TogoVar

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