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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Select column to sort.

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CCDC78_chr16_717582_731443	725888	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0064 a0002c0002t0006g0064	1	390	0.0026	0	c.181 others(5): Show c.181-8A>T		CCDC78	ENSG00000162004.19	transcript	ENST00000345165.10	protein_coding	2/13					chr16	TogoVar
CCDC78_chr16_717582_731443	726308	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0032 a0001c0011t0001g0032	1	390	0.0026	0	c.60T others(2): Show c.60T>C	p.Asn others(5): Show p.Asn20Asn	CCDC78	ENSG00000162004.19	transcript	ENST00000345165.10	protein_coding	1/14	136/1585	60/1413	20/470		chr16	TogoVar
CCDC7_chr10_32441140_32887864	32456334	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(72): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00741.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02293.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18947.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA19030.hp1 NA19058.hp2 NA19068.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0006 a0008 others(1): Show a0001 a0006 a0008 a0020	a0001c0002 a0006c0019 a0008c0010 others(1): Show a0001c0002 a0006c0019 a0008c0010 a0020c0018	a0001c0002t0001 a0006c0019t0001 a0008c0010t0001 others(1): Show a0001c0002t0001 a0006c0019t0001 a0008c0010t0001 a0020c0018t0001	a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 others(72): Show a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0006c0019t0001g0165 a0008c0010t0001g0129 a0008c0010t0001g0130 a0008c0010t0001g0131 a0008c0010t0001g0132 a0008c0010t0001g0133 a0020c0018t0001g0196	75	368	0.2038	0	c.456 others(3): Show c.456T>C	p.Asn others(6): Show p.Asn152Asn	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	4/44	765/4826	456/4158	152/1385		chr10	TogoVar
CCDC7_chr10_32441140_32887864	32463009	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0288 a0002c0003t0001g0288	1	368	0.0027	0	c.478 others(5): Show c.478-8T>C		CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	5/43					chr10	TogoVar
CCDC7_chr10_32441140_32887864	32694997	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG01884.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0248 a0007c0007t0001g0248	1	368	0.0027	0	c.245 others(6): Show c.2458+5G>C		CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	25/43					chr10	TogoVar
CCDC7_chr10_32441140_32887864	32779083	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01109.hp2 HG02976.hp2 HG03130.hp2 others(2): Show HG01109.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp1 NA18906.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0129 a0008c0010t0001g0130 a0008c0010t0001g0131 others(2): Show a0008c0010t0001g0129 a0008c0010t0001g0130 a0008c0010t0001g0131 a0008c0010t0001g0132 a0008c0010t0001g0133	5	368	0.0136	0	c.301 others(4): Show c.3012C>T	p.Val others(7): Show p.Val1004Val	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	30/44	3321/4826	3012/4158	1004/1385		chr10	TogoVar
CCDC7_chr10_32441140_32887864	32824520	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01361.hp2 HG02055.hp2 HG02809.hp2 HG01361.hp2 HG02055.hp2 HG02809.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0001 a0010c0012t0001g0002 a0010c0012t0001g0003 a0010c0012t0001g0001 a0010c0012t0001g0002 a0010c0012t0001g0003	3	368	0.0082	0	c.318 others(4): Show c.3184A>G	p.Thr others(7): Show p.Thr1062Ala	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/44	3493/4826	3184/4158	1062/1385		chr10	TogoVar
CCDC7_chr10_32441140_32887864	32834896	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(358): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023	a0001c0001 a0001c0002 a0001c0013 others(26): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0001c0021 a0002c0003 a0003c0004 a0003c0027 a0004c0005 a0005c0006 a0005c0009 a0006c0008 a0006c0019 a0008c0010 a0009c0011 a0010c0012 a0011c0017 a0012c0015 a0013c0016 a0014c0029 a0015c0026 a0016c0023 a0017c0025 a0018c0024 a0019c0028 a0020c0018 a0021c0022 a0022c0020 a0023c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0013t0001 a0001c0014t0001 a0001c0021t0001 a0002c0003t0001 a0002c0003t0004 a0003c0004t0001 a0003c0027t0001 a0004c0005t0001 a0005c0006t0001 a0005c0009t0001 a0005c0009t0003 a0006c0008t0001 a0006c0019t0001 a0008c0010t0001 a0009c0011t0001 a0010c0012t0001 a0011c0017t0001 a0012c0015t0001 a0012c0015t0003 a0013c0016t0003 a0014c0029t0001 a0015c0026t0001 a0016c0023t0001 a0017c0025t0001 a0018c0024t0002 a0019c0028t0005 a0020c0018t0001 a0021c0022t0001 a0022c0020t0002 a0023c0030t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0116 others(358): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0200 a0001c0001t0001g0257 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0358 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0006g0313 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0013t0001g0309 a0001c0013t0001g0333 a0001c0014t0001g0310 a0001c0014t0001g0331 a0001c0021t0001g0118 a0002c0003t0001g0026 a0002c0003t0001g0207 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0260 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0269 a0002c0003t0001g0270 a0002c0003t0001g0271 a0002c0003t0001g0272 a0002c0003t0001g0273 a0002c0003t0001g0274 a0002c0003t0001g0275 a0002c0003t0001g0276 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0290 a0002c0003t0001g0291 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0295 a0002c0003t0001g0296 a0002c0003t0001g0298 a0002c0003t0001g0332 a0002c0003t0001g0362 a0002c0003t0004g0297 a0003c0004t0001g0060 a0003c0004t0001g0061 a0003c0004t0001g0062 a0003c0004t0001g0063 a0003c0004t0001g0064 a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0004t0001g0067 a0003c0004t0001g0068 a0003c0004t0001g0071 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0075 a0003c0004t0001g0076 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0085 a0003c0004t0001g0086 a0003c0004t0001g0087 a0003c0004t0001g0088 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0104 a0003c0004t0001g0105 a0003c0004t0001g0112 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0004t0001g0299 a0003c0027t0001g0069 a0004c0005t0001g0202 a0004c0005t0001g0203 a0004c0005t0001g0204 a0004c0005t0001g0205 a0004c0005t0001g0206 a0004c0005t0001g0217 a0004c0005t0001g0218 a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0224 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0001g0228 a0004c0005t0001g0229 a0004c0005t0001g0230 a0004c0005t0001g0231 a0004c0005t0001g0232 a0004c0005t0001g0233 a0005c0006t0001g0234 a0005c0006t0001g0235 a0005c0006t0001g0236 a0005c0006t0001g0237 a0005c0006t0001g0238 a0005c0006t0001g0241 a0005c0006t0001g0242 a0005c0006t0001g0243 a0005c0006t0001g0244 a0005c0009t0001g0240 a0005c0009t0003g0211 a0005c0009t0003g0212 a0005c0009t0003g0213 a0005c0009t0003g0214 a0005c0009t0003g0215 a0006c0008t0001g0106 a0006c0008t0001g0107 a0006c0008t0001g0108 a0006c0008t0001g0109 a0006c0008t0001g0110 a0006c0008t0001g0111 a0006c0008t0001g0113 a0006c0019t0001g0165 a0008c0010t0001g0129 a0008c0010t0001g0130 a0008c0010t0001g0131 a0008c0010t0001g0132 a0008c0010t0001g0133 a0009c0011t0001g0119 a0009c0011t0001g0120 a0009c0011t0001g0121 a0009c0011t0001g0122 a0009c0011t0001g0123 a0010c0012t0001g0001 a0010c0012t0001g0002 a0010c0012t0001g0003 a0011c0017t0001g0326 a0011c0017t0001g0327 a0012c0015t0001g0239 a0012c0015t0003g0210 a0013c0016t0003g0208 a0013c0016t0003g0209 a0014c0029t0001g0070 a0015c0026t0001g0338 a0016c0023t0001g0225 a0017c0025t0001g0306 a0018c0024t0002g0004 a0019c0028t0005g0201 a0020c0018t0001g0196 a0021c0022t0001g0223 a0022c0020t0002g0019 a0023c0030t0001g0292	361	368	0.9810	0	c.335 others(4): Show c.3350G>C	p.Gly others(7): Show p.Gly1117Ala	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	34/44	3659/4826	3350/4158	1117/1385		chr10	TogoVar
CCDC7_chr10_32441140_32887864	32845237	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18906.hp2 NA18906.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0132 a0008c0010t0001g0132	1	368	0.0027	0	c.335 others(6): Show c.3353-6A>G		CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	34/43					chr10	TogoVar
CCDC7_chr10_32441140_32887864	32854390	AT AT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG01167.hp1 HG02109.hp2 others(16): Show HG00741.hp1 HG01167.hp1 HG02109.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02970.hp2 HG03041.hp2 HG03453.hp2 HG03486.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 others(16): Show a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155	19	368	0.0516	-1	c.402 others(7): Show c.4022-3delT		CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	41/43				INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32876347	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19056.hp1 NA19056.hp1	a0018 a0018	a0018c0024 a0018c0024	a0018c0024t0002 a0018c0024t0002	a0018c0024t0002g0004 a0018c0024t0002g0004	1	368	0.0027	0	c.411 others(4): Show c.4112T>C	p.Val others(7): Show p.Val1371Ala	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	43/44	4421/4826	4112/4158	1371/1385		chr10	TogoVar
CCDC80_chr3_112591797_112646143	112610085	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01192.hp1 HG01243.hp1 HG02257.hp1 others(14): Show HG01192.hp1 HG01243.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02738.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp2 HG03579.hp1 HG03688.hp2 HG03942.hp1 NA19030.hp2 NA20300.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0001 a0003c0003 a0004c0006 others(1): Show a0001c0001 a0003c0003 a0004c0006 a0009c0012	a0001c0001t0045 a0001c0001t0081 a0001c0001t0121 others(10): Show a0001c0001t0045 a0001c0001t0081 a0001c0001t0121 a0001c0001t0122 a0003c0003t0023 a0003c0003t0033 a0003c0003t0077 a0003c0003t0108 a0003c0003t0109 a0003c0003t0120 a0004c0006t0079 a0004c0006t0080 a0009c0012t0078	a0001c0001t0045g0044 a0001c0001t0081g0060 a0001c0001t0121g0294 others(12): Show a0001c0001t0045g0044 a0001c0001t0081g0060 a0001c0001t0121g0294 a0001c0001t0122g0281 a0003c0003t0023g0139 a0003c0003t0023g0141 a0003c0003t0023g0142 a0003c0003t0033g0019 a0003c0003t0077g0140 a0003c0003t0108g0250 a0003c0003t0109g0254 a0003c0003t0120g0293 a0004c0006t0079g0050 a0004c0006t0080g0051 a0009c0012t0078g0049	17	380	0.0447	-1	c.232 others(7): Show c.2322-5delT		CCDC80	ENSG00000091986.16	transcript	ENST00000206423.8	protein_coding	5/7					chr3	TogoVar
CCDC83_chr11_85850383_85925013	85895264	C C	CTT CTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG01070.hp1 HG01081.hp1 others(21): Show HG00735.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG02004.hp2 HG02055.hp2 HG02109.hp2 HG02148.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02683.hp2 HG02717.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 NA18906.hp1 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(21): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0002g0066 a0001c0001t0002g0139 a0001c0002t0001g0046 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0251 a0001c0002t0001g0320	24	334	0.0719	2	c.512 others(13): Show c.512-6_512-5dupTT		CCDC83	ENSG00000150676.13	transcript	ENST00000342404.8	protein_coding	5/10				INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC83_chr11_85850383_85925013	85895264	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00558.hp1 HG00558.hp2 others(188): Show HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18991.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0006c0008 a0007c0009	a0001c0001t0001 a0002c0003t0002 a0003c0004t0002 others(2): Show a0001c0001t0001 a0002c0003t0002 a0003c0004t0002 a0006c0008t0001 a0007c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(186): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0002c0003t0002g0144 a0002c0003t0002g0145 a0002c0003t0002g0146 a0002c0003t0002g0150 a0003c0004t0002g0113 a0003c0004t0002g0121 a0006c0008t0001g0299 a0007c0009t0001g0290	191	334	0.5719	-1	c.512 others(6): Show c.512-5delT		CCDC83	ENSG00000150676.13	transcript	ENST00000342404.8	protein_coding	5/10				INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC83_chr11_85850383_85925013	85895264	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01071.hp2 HG01099.hp2 HG01256.hp2 others(39): Show HG01071.hp2 HG01099.hp2 HG01256.hp2 HG01496.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp2 HG02486.hp1 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03942.hp2 HG06807.hp1 NA18939.hp2 NA18953.hp2 NA18985.hp1 NA18985.hp2 NA19043.hp1 NA19058.hp1 NA19074.hp2 NA19240.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(39): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0135 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0225 a0001c0001t0001g0240 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0305 a0001c0001t0001g0331 a0001c0001t0002g0016 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0008g0281 a0001c0002t0001g0230	42	334	0.1258	-2	c.512 others(13): Show c.512-6_512-5delTT		CCDC83	ENSG00000150676.13	transcript	ENST00000342404.8	protein_coding	5/10				INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC83_chr11_85850383_85925013	85895264	CTTT CTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG01884.hp2 HG02451.hp1 others(8): Show HG01109.hp2 HG01884.hp2 HG02451.hp1 HG02630.hp1 HG02818.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(8): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0325 a0001c0001t0003g0015 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0005g0027 a0001c0001t0005g0031	11	334	0.0329	-3	c.512 others(14): Show c.512-7_512-5delTTT		CCDC83	ENSG00000150676.13	transcript	ENST00000342404.8	protein_coding	5/10				INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC83_chr11_85850383_85925013	85919346	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG01109.hp2 HG01884.hp2 others(24): Show HG00280.hp1 HG01109.hp2 HG01884.hp2 HG02258.hp2 HG02630.hp1 HG02886.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG03834.hp2 NA18906.hp1 NA18962.hp1 NA18979.hp2 NA18985.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(24): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0065 a0001c0001t0001g0165 a0001c0001t0003g0015 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0005g0027 a0001c0001t0005g0031 a0001c0001t0006g0140 a0001c0001t0008g0281	27	334	0.0808	0	c.108 others(6): Show c.1081-3T>C		CCDC83	ENSG00000150676.13	transcript	ENST00000342404.8	protein_coding	10/10					chr11	TogoVar
CCDC85A_chr2_56178990_56391172	56342871	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG02083.hp1 HG02132.hp1 others(18): Show HG01243.hp1 HG02083.hp1 HG02132.hp1 HG02165.hp2 HG03098.hp1 HG03654.hp2 HG03704.hp1 HG03927.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18960.hp1 NA18964.hp2 NA18969.hp1 NA18999.hp2 NA19058.hp2 NA19077.hp2 NA19087.hp1 NA19091.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0003c0003t0001	a0001c0001t0001g0031 a0001c0001t0001g0105 a0001c0001t0001g0106 others(18): Show a0001c0001t0001g0031 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0162 a0001c0001t0001g0240 a0001c0001t0001g0265 a0001c0001t0001g0273 a0002c0002t0001g0022 a0002c0002t0003g0056 a0002c0002t0003g0062 a0002c0002t0005g0086 a0003c0003t0001g0100 a0003c0003t0001g0171 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189	21	308	0.0682	0	c.124 others(6): Show c.1241-8A>G		CCDC85A	ENSG00000055813.6	transcript	ENST00000407595.3	protein_coding	2/5					chr2	TogoVar
CCDC85C_chr14_99495190_99609207	99500189	GTGT GTGT	G G	splice_region_variant splice_region_variant	LOW	HG01891.hp1 HG02280.hp1 HG03225.hp2 HG01891.hp1 HG02280.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0011 a0001c0002t0011 a0001c0003t0011 a0001c0001t0011 a0001c0002t0011 a0001c0003t0011	a0001c0001t0011g0159 a0001c0002t0011g0283 a0001c0003t0011g0012 a0001c0001t0011g0159 a0001c0002t0011g0283 a0001c0003t0011g0012	3	300	0.0100	-3	c.15 others(16): Show c.15054_*15056delACA		CCDC85C	ENSG00000205476.9	transcript	ENST00000380243.9	protein_coding	6/6					chr14	TogoVar
CCDC85C_chr14_99495190_99609207	99500191	G G	A A	splice_region_variant splice_region_variant	LOW	HG00738.hp2 HG01109.hp1 NA19004.hp2 HG00738.hp2 HG01109.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0016 a0001c0001t0016 a0001c0002t0016	a0001c0001t0016g0087 a0001c0001t0016g0161 a0001c0002t0016g0272 a0001c0001t0016g0087 a0001c0001t0016g0161 a0001c0002t0016g0272	3	300	0.0100	0	c.15 others(6): Show c.15055C>T		CCDC85C	ENSG00000205476.9	transcript	ENST00000380243.9	protein_coding	6/6					chr14	TogoVar
CCDC85C_chr14_99495190_99609207	99536008	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	300	0.0033	0	c.867 others(5): Show c.867+7C>T		CCDC85C	ENSG00000205476.9	transcript	ENST00000380243.9	protein_coding	2/5					chr14	TogoVar
CCDC88A_chr2_55282842_55424856	55336673	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG01891.hp2 HG02486.hp2 others(2): Show HG01167.hp1 HG01891.hp2 HG02486.hp2 HG02970.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0196 a0001c0001t0015g0197 a0001c0001t0015g0198 others(2): Show a0001c0001t0015g0196 a0001c0001t0015g0197 a0001c0001t0015g0198 a0001c0001t0015g0199 a0001c0001t0015g0200	5	316	0.0158	0	c.165 others(6): Show c.1656+8C>T		CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	14/32					chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55346339	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp1 HG02976.hp2 HG02630.hp1 HG02976.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0022	a0001c0006t0022g0076 a0001c0006t0022g0077 a0001c0006t0022g0076 a0001c0006t0022g0077	2	316	0.0063	0	c.883 others(5): Show c.883-6G>A		CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	9/32					chr2	TogoVar
CCDC88B_chr11_64335204_64362534	64340599	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0190 a0002c0005t0001g0190	1	400	0.0025	0	c.61- others(4): Show c.61-8C>T		CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding	1/26					chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64341594	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0162 a0001c0004t0001g0162	1	400	0.0025	0	c.532 others(5): Show c.532-5C>T		CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding	6/26					chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64341986	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp1 HG02698.hp2 HG02738.hp1 others(3): Show HG02602.hp1 HG02698.hp2 HG02738.hp1 HG03669.hp1 HG04204.hp1 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0003 a0002c0009t0003 a0002c0002t0003 a0002c0009t0003	a0002c0002t0003g0155 a0002c0009t0003g0154 a0002c0009t0003g0156 others(3): Show a0002c0002t0003g0155 a0002c0009t0003g0154 a0002c0009t0003g0156 a0002c0009t0003g0157 a0002c0009t0003g0158 a0002c0009t0003g0159	6	400	0.0150	0	c.676 others(5): Show c.676-8A>T		CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding	7/26					chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64342287	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG03209.hp2 HG03471.hp2 HG02572.hp2 HG03209.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	3	400	0.0075	0	c.822 others(5): Show c.822-7C>T		CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding	8/26					chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64343333	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00423.hp2 HG00438.hp1 others(24): Show HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01123.hp1 HG01169.hp2 HG01255.hp2 HG01361.hp1 HG01496.hp2 HG01891.hp1 HG02056.hp2 HG02257.hp2 HG02559.hp1 HG02602.hp2 HG02818.hp2 NA18948.hp2 NA18974.hp2 NA18994.hp2 NA18999.hp1 NA19010.hp1 NA20905.hp1	a0001 a0007 a0014 others(1): Show a0001 a0007 a0014 a0030	a0001c0001 a0001c0024 a0001c0051 others(3): Show a0001c0001 a0001c0024 a0001c0051 a0007c0018 a0014c0025 a0030c0050	a0001c0001t0001 a0001c0001t0010 a0001c0024t0003 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0024t0003 a0001c0051t0001 a0007c0018t0001 a0014c0025t0001 a0030c0050t0001	a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0047 others(15): Show a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0137 a0001c0001t0010g0007 a0001c0024t0003g0045 a0001c0024t0003g0049 a0001c0051t0001g0007 a0007c0018t0001g0028 a0007c0018t0001g0046 a0007c0018t0001g0051 a0014c0025t0001g0053 a0014c0025t0001g0054 a0030c0050t0001g0056	27	400	0.0675	0	c.120 others(6): Show c.1209+8A>G		CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding	11/26					chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64343619	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp2 HG03486.hp2 HG02965.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0043 a0003c0003t0001g0044	2	400	0.0050	0	c.131 others(6): Show c.1318+4A>G		CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding	12/26					chr11	TogoVar
CCDC88C_chr14_91266323_91422820	91294316	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0001 a0001c0050t0001	a0001c0050t0001g0220 a0001c0050t0001g0220	1	284	0.0035	0	c.396 others(4): Show c.3969G>A	p.Leu others(7): Show p.Leu1323Leu	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/30	4099/7519	3969/6087	1323/2028		chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91307224	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(134): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01943.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02148.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18950.hp1 NA18951.hp2 NA18957.hp2 NA18963.hp2 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18979.hp2 NA18995.hp1 NA18999.hp1 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19068.hp2 NA19074.hp1 NA19083.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0006 others(11): Show a0001 a0003 a0006 a0007 a0009 a0011 a0012 a0014 a0015 a0019 a0021 a0024 a0028 a0029	a0001c0001 a0001c0006 a0001c0009 others(39): Show a0001c0001 a0001c0006 a0001c0009 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0023 a0001c0024 a0001c0028 a0001c0031 a0001c0036 a0001c0037 a0001c0049 a0001c0050 a0001c0055 a0001c0058 a0001c0059 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0070 a0001c0071 a0001c0075 a0001c0076 a0003c0013 a0006c0012 a0007c0040 a0007c0052 a0009c0069 a0009c0073 a0011c0026 a0012c0035 a0012c0051 a0014c0025 a0015c0029 a0019c0048 a0021c0053 a0024c0054 a0028c0068 a0029c0067	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(48): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0006t0001 a0001c0006t0003 a0001c0009t0002 a0001c0014t0001 a0001c0014t0007 a0001c0018t0001 a0001c0019t0008 a0001c0019t0017 a0001c0020t0001 a0001c0023t0001 a0001c0024t0001 a0001c0028t0001 a0001c0031t0001 a0001c0036t0005 a0001c0037t0001 a0001c0049t0001 a0001c0050t0001 a0001c0055t0001 a0001c0058t0001 a0001c0059t0001 a0001c0063t0019 a0001c0064t0001 a0001c0065t0001 a0001c0066t0002 a0001c0070t0001 a0001c0071t0002 a0001c0075t0005 a0001c0076t0001 a0003c0013t0001 a0003c0013t0002 a0006c0012t0001 a0007c0040t0011 a0007c0052t0011 a0009c0069t0016 a0009c0073t0001 a0011c0026t0001 a0012c0035t0001 a0012c0051t0001 a0014c0025t0001 a0015c0029t0001 a0019c0048t0008 a0021c0053t0001 a0024c0054t0014 a0028c0068t0009 a0029c0067t0001	a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0039 others(134): Show a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0243 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0275 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0007g0002 a0001c0001t0010g0268 a0001c0001t0010g0269 a0001c0001t0010g0270 a0001c0001t0012g0160 a0001c0001t0013g0005 a0001c0006t0001g0012 a0001c0006t0001g0025 a0001c0006t0001g0065 a0001c0006t0001g0110 a0001c0006t0001g0111 a0001c0006t0001g0137 a0001c0006t0001g0181 a0001c0006t0001g0189 a0001c0006t0001g0191 a0001c0006t0001g0236 a0001c0006t0003g0277 a0001c0009t0002g0080 a0001c0009t0002g0083 a0001c0009t0002g0107 a0001c0009t0002g0250 a0001c0009t0002g0257 a0001c0009t0002g0260 a0001c0009t0002g0262 a0001c0014t0001g0021 a0001c0014t0001g0068 a0001c0014t0001g0070 a0001c0014t0007g0003 a0001c0018t0001g0014 a0001c0018t0001g0055 a0001c0018t0001g0221 a0001c0019t0008g0108 a0001c0019t0008g0109 a0001c0019t0017g0128 a0001c0020t0001g0203 a0001c0020t0001g0204 a0001c0020t0001g0210 a0001c0023t0001g0017 a0001c0023t0001g0149 a0001c0024t0001g0079 a0001c0024t0001g0244 a0001c0028t0001g0192 a0001c0028t0001g0215 a0001c0031t0001g0007 a0001c0036t0005g0099 a0001c0037t0001g0074 a0001c0049t0001g0261 a0001c0050t0001g0220 a0001c0055t0001g0248 a0001c0058t0001g0252 a0001c0059t0001g0043 a0001c0063t0019g0267 a0001c0064t0001g0071 a0001c0065t0001g0265 a0001c0066t0002g0075 a0001c0070t0001g0238 a0001c0071t0002g0245 a0001c0075t0005g0195 a0001c0076t0001g0213 a0003c0013t0001g0020 a0003c0013t0002g0033 a0003c0013t0002g0037 a0003c0013t0002g0132 a0006c0012t0001g0077 a0006c0012t0001g0176 a0006c0012t0001g0247 a0006c0012t0001g0253 a0007c0040t0011g0054 a0007c0052t0011g0166 a0009c0069t0016g0237 a0009c0073t0001g0197 a0011c0026t0001g0049 a0011c0026t0001g0145 a0012c0035t0001g0073 a0012c0051t0001g0233 a0014c0025t0001g0023 a0014c0025t0001g0171 a0015c0029t0001g0198 a0015c0029t0001g0199 a0019c0048t0008g0246 a0021c0053t0001g0239 a0024c0054t0014g0006 a0028c0068t0009g0259 a0029c0067t0001g0258	137	284	0.4824	0	c.300 others(4): Show c.3009A>G	p.Leu others(7): Show p.Leu1003Leu	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	18/30	3139/7519	3009/6087	1003/2028		chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91315791	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01071.hp1 HG01884.hp2 HG01891.hp2 others(18): Show HG01071.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02809.hp1 HG02970.hp1 HG03041.hp1 HG03209.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03927.hp1 HG04204.hp2 NA18522.hp2 NA19043.hp1 NA19058.hp2 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0025 a0026 a0027	a0001c0001 a0001c0004 a0001c0007 others(10): Show a0001c0001 a0001c0004 a0001c0007 a0001c0009 a0001c0038 a0001c0071 a0002c0002 a0002c0062 a0003c0003 a0003c0043 a0025c0033 a0026c0046 a0027c0047	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(11): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0001c0007t0009 a0001c0009t0002 a0001c0038t0009 a0001c0071t0002 a0002c0002t0001 a0002c0062t0001 a0003c0003t0006 a0003c0043t0002 a0025c0033t0007 a0026c0046t0002 a0027c0047t0004	a0001c0001t0001g0182 a0001c0004t0001g0026 a0001c0004t0001g0113 others(17): Show a0001c0001t0001g0182 a0001c0004t0001g0026 a0001c0004t0001g0113 a0001c0007t0001g0228 a0001c0007t0009g0067 a0001c0009t0002g0080 a0001c0009t0002g0083 a0001c0009t0002g0107 a0001c0009t0002g0250 a0001c0009t0002g0257 a0001c0009t0002g0262 a0001c0038t0009g0254 a0001c0071t0002g0245 a0002c0002t0001g0251 a0002c0062t0001g0266 a0003c0003t0006g0001 a0003c0043t0002g0056 a0025c0033t0007g0004 a0026c0046t0002g0241 a0027c0047t0004g0172	21	284	0.0739	0	c.152 others(6): Show c.1528-4G>A		CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	13/29					chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91338481	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0009 a0001c0038t0009	a0001c0038t0009g0254 a0001c0038t0009g0254	1	284	0.0035	0	c.891 others(5): Show c.891+8G>A		CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	9/29					chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91339460	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01891.hp2 HG02559.hp2 HG02615.hp2 others(5): Show HG01891.hp2 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02965.hp1 HG03225.hp2 HG03516.hp2	a0001 a0012 a0013 others(2): Show a0001 a0012 a0013 a0017 a0025	a0001c0034 a0001c0036 a0001c0037 others(4): Show a0001c0034 a0001c0036 a0001c0037 a0012c0035 a0013c0021 a0017c0032 a0025c0033	a0001c0034t0001 a0001c0036t0005 a0001c0037t0001 others(4): Show a0001c0034t0001 a0001c0036t0005 a0001c0037t0001 a0012c0035t0001 a0013c0021t0001 a0017c0032t0001 a0025c0033t0007	a0001c0034t0001g0264 a0001c0036t0005g0099 a0001c0037t0001g0074 others(5): Show a0001c0034t0001g0264 a0001c0036t0005g0099 a0001c0037t0001g0074 a0012c0035t0001g0073 a0013c0021t0001g0066 a0013c0021t0001g0072 a0017c0032t0001g0130 a0025c0033t0007g0004	8	284	0.0282	0	c.627 others(3): Show c.627G>A	p.Leu others(6): Show p.Leu209Leu	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	8/30	757/7519	627/6087	209/2028		chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91417623	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(96): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp1 NA18942.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp1 NA18957.hp2 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18981.hp2 NA18993.hp2 NA18999.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19068.hp2 NA19077.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0016	a0001c0001 a0001c0004 a0001c0006 others(31): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0014 a0001c0018 a0001c0023 a0001c0024 a0001c0036 a0001c0037 a0001c0059 a0001c0064 a0001c0066 a0002c0002 a0002c0005 a0002c0061 a0003c0003 a0003c0013 a0003c0027 a0003c0043 a0004c0008 a0005c0010 a0005c0039 a0006c0012 a0007c0040 a0007c0044 a0008c0017 a0010c0022 a0011c0026 a0012c0035 a0013c0021 a0014c0025 a0016c0056	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 others(34): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0007t0009 a0001c0009t0002 a0001c0014t0001 a0001c0018t0001 a0001c0023t0001 a0001c0024t0001 a0001c0036t0005 a0001c0037t0001 a0001c0059t0001 a0001c0064t0001 a0001c0066t0002 a0002c0002t0001 a0002c0002t0004 a0002c0005t0001 a0002c0061t0001 a0003c0003t0002 a0003c0013t0001 a0003c0013t0002 a0003c0027t0002 a0003c0043t0002 a0004c0008t0002 a0005c0010t0001 a0005c0039t0001 a0006c0012t0001 a0007c0040t0011 a0007c0044t0015 a0008c0017t0002 a0010c0022t0001 a0011c0026t0001 a0012c0035t0001 a0013c0021t0001 a0014c0025t0001 a0016c0056t0004	a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0039 others(96): Show a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0004t0001g0009 a0001c0004t0001g0026 a0001c0004t0001g0050 a0001c0004t0001g0051 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0104 a0001c0006t0001g0012 a0001c0006t0001g0025 a0001c0006t0001g0065 a0001c0007t0001g0028 a0001c0007t0001g0038 a0001c0007t0001g0048 a0001c0007t0009g0067 a0001c0009t0002g0080 a0001c0009t0002g0083 a0001c0014t0001g0021 a0001c0014t0001g0068 a0001c0014t0001g0070 a0001c0018t0001g0014 a0001c0018t0001g0055 a0001c0023t0001g0017 a0001c0024t0001g0079 a0001c0036t0005g0099 a0001c0037t0001g0074 a0001c0059t0001g0043 a0001c0064t0001g0071 a0001c0066t0002g0075 a0002c0002t0001g0015 a0002c0002t0001g0035 a0002c0002t0001g0047 a0002c0002t0001g0063 a0002c0002t0001g0069 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0094 a0002c0002t0001g0105 a0002c0002t0004g0008 a0002c0005t0001g0016 a0002c0005t0001g0052 a0002c0061t0001g0010 a0003c0003t0002g0013 a0003c0003t0002g0022 a0003c0003t0002g0027 a0003c0003t0002g0034 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0064 a0003c0003t0002g0096 a0003c0003t0002g0097 a0003c0013t0001g0020 a0003c0013t0002g0033 a0003c0013t0002g0037 a0003c0027t0002g0060 a0003c0027t0002g0061 a0003c0043t0002g0056 a0004c0008t0002g0036 a0004c0008t0002g0098 a0005c0010t0001g0078 a0005c0039t0001g0032 a0006c0012t0001g0077 a0007c0040t0011g0054 a0007c0044t0015g0011 a0008c0017t0002g0019 a0008c0017t0002g0029 a0010c0022t0001g0030 a0010c0022t0001g0031 a0011c0026t0001g0049 a0012c0035t0001g0073 a0013c0021t0001g0066 a0013c0021t0001g0072 a0014c0025t0001g0023 a0016c0056t0004g0089	99	284	0.3486	0	c.60+ others(4): Show c.60+8C>A		CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	1/29					chr14	TogoVar
CCDC92_chr12_123930626_123977831	123943340	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02015.hp2 HG03831.hp1 HG02015.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0055 a0001c0001t0015g0054 a0001c0001t0002g0055 a0001c0001t0015g0054	2	250	0.0080	0	c.181 others(5): Show c.181+7C>G		CCDC92	ENSG00000119242.9	transcript	ENST00000238156.8	protein_coding	3/4					chr12	TogoVar
CCDC93_chr2_117910481_118019070	117952439	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02015.hp1 HG02080.hp1 NA18952.hp2 others(2): Show HG02015.hp1 HG02080.hp1 NA18952.hp2 NA18965.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0216 a0001c0002t0003g0226 a0001c0002t0003g0241 others(2): Show a0001c0002t0003g0216 a0001c0002t0003g0226 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0247	5	322	0.0155	0	c.100 others(6): Show c.1006-4A>C		CCDC93	ENSG00000125633.11	transcript	ENST00000376300.7	protein_coding	12/23					chr2	TogoVar
CCDC93_chr2_117910481_118019070	117973997	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG00544.hp2 HG00558.hp1 others(105): Show HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01358.hp1 HG01433.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02698.hp2 HG02738.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18992.hp2 NA18997.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19067.hp1 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0013 a0001c0001t0027 others(7): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0041 a0001c0001t0046 a0005c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(90): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0098 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0013g0021 a0001c0001t0027g0139 a0001c0001t0028g0129 a0001c0001t0029g0156 a0001c0001t0030g0169 a0001c0001t0031g0197 a0001c0001t0041g0152 a0001c0001t0046g0279 a0005c0008t0001g0143 a0005c0008t0001g0144	108	322	0.3354	0	c.802 others(5): Show c.802-3C>T		CCDC93	ENSG00000125633.11	transcript	ENST00000376300.7	protein_coding	10/23					chr2	TogoVar
CCDC9_chr19_47251525_47276953	47256616	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(210): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0011	a0001c0002 a0001c0003 a0001c0008 others(5): Show a0001c0002 a0001c0003 a0001c0008 a0001c0011 a0001c0017 a0003c0004 a0009c0013 a0011c0010	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(58): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0016 a0001c0002t0030 a0001c0002t0040 a0001c0002t0065 a0001c0002t0066 a0001c0002t0070 a0001c0002t0074 a0001c0002t0075 a0001c0002t0076 a0001c0002t0077 a0001c0002t0078 a0001c0002t0079 a0001c0002t0080 a0001c0002t0081 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0008 a0001c0003t0012 a0001c0003t0017 a0001c0003t0025 a0001c0003t0029 a0001c0003t0035 a0001c0003t0036 a0001c0008t0002 a0001c0008t0034 a0001c0011t0004 a0001c0017t0003 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0006 a0003c0004t0007 a0003c0004t0008 a0003c0004t0009 a0003c0004t0010 a0003c0004t0012 a0003c0004t0015 a0003c0004t0016 a0003c0004t0023 a0003c0004t0030 a0003c0004t0054 a0003c0004t0055 a0003c0004t0060 a0003c0004t0062 a0003c0004t0071 a0009c0013t0009 a0011c0010t0003	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0007 others(159): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0013 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0029 a0001c0002t0001g0063 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0021 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0086 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0110 a0001c0002t0003g0001 a0001c0002t0003g0013 a0001c0002t0003g0066 a0001c0002t0003g0085 a0001c0002t0003g0108 a0001c0002t0003g0113 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0004g0001 a0001c0002t0004g0007 a0001c0002t0004g0013 a0001c0002t0004g0015 a0001c0002t0004g0023 a0001c0002t0004g0080 a0001c0002t0004g0097 a0001c0002t0004g0119 a0001c0002t0005g0001 a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0025 a0001c0002t0005g0079 a0001c0002t0006g0003 a0001c0002t0006g0022 a0001c0002t0006g0023 a0001c0002t0006g0078 a0001c0002t0008g0007 a0001c0002t0008g0095 a0001c0002t0008g0096 a0001c0002t0009g0003 a0001c0002t0009g0028 a0001c0002t0009g0094 a0001c0002t0012g0029 a0001c0002t0016g0003 a0001c0002t0016g0088 a0001c0002t0016g0118 a0001c0002t0030g0001 a0001c0002t0030g0020 a0001c0002t0040g0001 a0001c0002t0065g0103 a0001c0002t0066g0116 a0001c0002t0070g0015 a0001c0002t0074g0101 a0001c0002t0075g0112 a0001c0002t0076g0003 a0001c0002t0077g0007 a0001c0002t0078g0001 a0001c0002t0079g0013 a0001c0002t0080g0117 a0001c0002t0081g0025 a0001c0003t0001g0004 a0001c0003t0001g0009 a0001c0003t0001g0014 a0001c0003t0001g0024 a0001c0003t0001g0026 a0001c0003t0001g0076 a0001c0003t0001g0082 a0001c0003t0002g0004 a0001c0003t0002g0009 a0001c0003t0002g0027 a0001c0003t0002g0065 a0001c0003t0002g0084 a0001c0003t0002g0125 a0001c0003t0003g0004 a0001c0003t0003g0009 a0001c0003t0003g0064 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0069 a0001c0003t0003g0072 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0003t0003g0077 a0001c0003t0003g0087 a0001c0003t0003g0089 a0001c0003t0004g0004 a0001c0003t0004g0009 a0001c0003t0004g0027 a0001c0003t0004g0071 a0001c0003t0004g0083 a0001c0003t0004g0120 a0001c0003t0005g0004 a0001c0003t0006g0004 a0001c0003t0008g0070 a0001c0003t0012g0004 a0001c0003t0012g0009 a0001c0003t0017g0014 a0001c0003t0025g0014 a0001c0003t0029g0004 a0001c0003t0035g0123 a0001c0003t0035g0124 a0001c0003t0036g0081 a0001c0008t0002g0001 a0001c0008t0034g0028 a0001c0011t0004g0073 a0001c0017t0003g0004 a0003c0004t0002g0008 a0003c0004t0002g0012 a0003c0004t0002g0059 a0003c0004t0003g0008 a0003c0004t0004g0060 a0003c0004t0005g0008 a0003c0004t0005g0012 a0003c0004t0005g0058 a0003c0004t0006g0011 a0003c0004t0006g0030 a0003c0004t0006g0050 a0003c0004t0006g0055 a0003c0004t0007g0011 a0003c0004t0007g0052 a0003c0004t0008g0006 a0003c0004t0008g0049 a0003c0004t0008g0051 a0003c0004t0008g0057 a0003c0004t0009g0006 a0003c0004t0009g0012 a0003c0004t0010g0006 a0003c0004t0010g0012 a0003c0004t0012g0030 a0003c0004t0015g0006 a0003c0004t0015g0011 a0003c0004t0015g0062 a0003c0004t0016g0006 a0003c0004t0023g0122 a0003c0004t0030g0008 a0003c0004t0054g0006 a0003c0004t0055g0008 a0003c0004t0060g0061 a0003c0004t0062g0121 a0003c0004t0071g0056 a0009c0013t0009g0009 a0011c0010t0003g0024	213	402	0.5299	0	c.-72 others(5): Show c.-72+7T>G		CCDC9	ENSG00000105321.14	transcript	ENST00000221922.11	protein_coding	1/11					chr19	TogoVar
CCDC9_chr19_47251525_47276953	47256617	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0117 a0002c0001t0117	a0002c0001t0117g0126 a0002c0001t0117g0126	1	402	0.0025	0	c.-72 others(5): Show c.-72+8G>A		CCDC9	ENSG00000105321.14	transcript	ENST00000221922.11	protein_coding	1/11					chr19	TogoVar
CCDC9_chr19_47251525_47276953	47260316	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(170): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0011	a0001c0002 a0001c0003 a0001c0008 others(5): Show a0001c0002 a0001c0003 a0001c0008 a0001c0011 a0001c0017 a0002c0001 a0009c0013 a0011c0010	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(40): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0016 a0001c0002t0030 a0001c0002t0040 a0001c0002t0065 a0001c0002t0066 a0001c0002t0070 a0001c0002t0074 a0001c0002t0075 a0001c0002t0076 a0001c0002t0077 a0001c0002t0078 a0001c0002t0079 a0001c0002t0080 a0001c0002t0081 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0008 a0001c0003t0012 a0001c0003t0017 a0001c0003t0025 a0001c0003t0029 a0001c0003t0035 a0001c0003t0036 a0001c0008t0002 a0001c0008t0034 a0001c0011t0004 a0001c0017t0003 a0002c0001t0001 a0009c0013t0009 a0011c0010t0003	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0007 others(124): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0013 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0029 a0001c0002t0001g0063 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0021 a0001c0002t0002g0086 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0110 a0001c0002t0003g0001 a0001c0002t0003g0013 a0001c0002t0003g0066 a0001c0002t0003g0085 a0001c0002t0003g0108 a0001c0002t0003g0113 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0004g0001 a0001c0002t0004g0007 a0001c0002t0004g0013 a0001c0002t0004g0015 a0001c0002t0004g0023 a0001c0002t0004g0080 a0001c0002t0004g0097 a0001c0002t0004g0119 a0001c0002t0005g0001 a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0025 a0001c0002t0005g0079 a0001c0002t0006g0003 a0001c0002t0006g0022 a0001c0002t0006g0023 a0001c0002t0006g0078 a0001c0002t0008g0007 a0001c0002t0008g0095 a0001c0002t0008g0096 a0001c0002t0009g0003 a0001c0002t0009g0028 a0001c0002t0009g0094 a0001c0002t0012g0029 a0001c0002t0016g0003 a0001c0002t0016g0088 a0001c0002t0016g0118 a0001c0002t0030g0001 a0001c0002t0030g0020 a0001c0002t0040g0001 a0001c0002t0065g0103 a0001c0002t0066g0116 a0001c0002t0070g0015 a0001c0002t0074g0101 a0001c0002t0075g0112 a0001c0002t0076g0003 a0001c0002t0077g0007 a0001c0002t0078g0001 a0001c0002t0079g0013 a0001c0002t0080g0117 a0001c0002t0081g0025 a0001c0003t0001g0004 a0001c0003t0001g0009 a0001c0003t0001g0014 a0001c0003t0001g0024 a0001c0003t0001g0026 a0001c0003t0001g0076 a0001c0003t0001g0082 a0001c0003t0002g0004 a0001c0003t0002g0009 a0001c0003t0002g0027 a0001c0003t0002g0065 a0001c0003t0002g0084 a0001c0003t0002g0125 a0001c0003t0003g0004 a0001c0003t0003g0009 a0001c0003t0003g0064 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0069 a0001c0003t0003g0072 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0003t0003g0077 a0001c0003t0003g0087 a0001c0003t0003g0089 a0001c0003t0004g0004 a0001c0003t0004g0009 a0001c0003t0004g0027 a0001c0003t0004g0071 a0001c0003t0004g0083 a0001c0003t0004g0120 a0001c0003t0005g0004 a0001c0003t0006g0004 a0001c0003t0008g0070 a0001c0003t0012g0004 a0001c0003t0012g0009 a0001c0003t0017g0014 a0001c0003t0025g0014 a0001c0003t0029g0004 a0001c0003t0035g0123 a0001c0003t0035g0124 a0001c0003t0036g0081 a0001c0008t0002g0001 a0001c0008t0034g0028 a0001c0011t0004g0073 a0001c0017t0003g0004 a0002c0001t0001g0224 a0009c0013t0009g0009 a0011c0010t0003g0024	173	402	0.4304	0	c.109 others(5): Show c.109-5C>T		CCDC9	ENSG00000105321.14	transcript	ENST00000221922.11	protein_coding	3/11					chr19	TogoVar
CCDC9_chr19_47251525_47276953	47260590	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0073 a0001c0011t0004g0073	1	402	0.0025	0	c.213 others(3): Show c.213G>A	p.Glu others(5): Show p.Glu71Glu	CCDC9	ENSG00000105321.14	transcript	ENST00000221922.11	protein_coding	5/12	369/2027	213/1596	71/531		chr19	TogoVar
CCDC9_chr19_47251525_47276953	47271190	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(210): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0011	a0001c0002 a0001c0003 a0001c0008 others(5): Show a0001c0002 a0001c0003 a0001c0008 a0001c0011 a0001c0017 a0003c0004 a0009c0013 a0011c0010	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(58): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0016 a0001c0002t0030 a0001c0002t0040 a0001c0002t0065 a0001c0002t0066 a0001c0002t0070 a0001c0002t0074 a0001c0002t0075 a0001c0002t0076 a0001c0002t0077 a0001c0002t0078 a0001c0002t0079 a0001c0002t0080 a0001c0002t0081 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0008 a0001c0003t0012 a0001c0003t0017 a0001c0003t0025 a0001c0003t0029 a0001c0003t0035 a0001c0003t0036 a0001c0008t0002 a0001c0008t0034 a0001c0011t0004 a0001c0017t0003 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0006 a0003c0004t0007 a0003c0004t0008 a0003c0004t0009 a0003c0004t0010 a0003c0004t0012 a0003c0004t0015 a0003c0004t0016 a0003c0004t0023 a0003c0004t0030 a0003c0004t0054 a0003c0004t0055 a0003c0004t0060 a0003c0004t0062 a0003c0004t0071 a0009c0013t0009 a0011c0010t0003	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0007 others(159): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0013 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0029 a0001c0002t0001g0063 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0021 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0086 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0110 a0001c0002t0003g0001 a0001c0002t0003g0013 a0001c0002t0003g0066 a0001c0002t0003g0085 a0001c0002t0003g0108 a0001c0002t0003g0113 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0004g0001 a0001c0002t0004g0007 a0001c0002t0004g0013 a0001c0002t0004g0015 a0001c0002t0004g0023 a0001c0002t0004g0080 a0001c0002t0004g0097 a0001c0002t0004g0119 a0001c0002t0005g0001 a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0025 a0001c0002t0005g0079 a0001c0002t0006g0003 a0001c0002t0006g0022 a0001c0002t0006g0023 a0001c0002t0006g0078 a0001c0002t0008g0007 a0001c0002t0008g0095 a0001c0002t0008g0096 a0001c0002t0009g0003 a0001c0002t0009g0028 a0001c0002t0009g0094 a0001c0002t0012g0029 a0001c0002t0016g0003 a0001c0002t0016g0088 a0001c0002t0016g0118 a0001c0002t0030g0001 a0001c0002t0030g0020 a0001c0002t0040g0001 a0001c0002t0065g0103 a0001c0002t0066g0116 a0001c0002t0070g0015 a0001c0002t0074g0101 a0001c0002t0075g0112 a0001c0002t0076g0003 a0001c0002t0077g0007 a0001c0002t0078g0001 a0001c0002t0079g0013 a0001c0002t0080g0117 a0001c0002t0081g0025 a0001c0003t0001g0004 a0001c0003t0001g0009 a0001c0003t0001g0014 a0001c0003t0001g0024 a0001c0003t0001g0026 a0001c0003t0001g0076 a0001c0003t0001g0082 a0001c0003t0002g0004 a0001c0003t0002g0009 a0001c0003t0002g0027 a0001c0003t0002g0065 a0001c0003t0002g0084 a0001c0003t0002g0125 a0001c0003t0003g0004 a0001c0003t0003g0009 a0001c0003t0003g0064 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0069 a0001c0003t0003g0072 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0003t0003g0077 a0001c0003t0003g0087 a0001c0003t0003g0089 a0001c0003t0004g0004 a0001c0003t0004g0009 a0001c0003t0004g0027 a0001c0003t0004g0071 a0001c0003t0004g0083 a0001c0003t0004g0120 a0001c0003t0005g0004 a0001c0003t0006g0004 a0001c0003t0008g0070 a0001c0003t0012g0004 a0001c0003t0012g0009 a0001c0003t0017g0014 a0001c0003t0025g0014 a0001c0003t0029g0004 a0001c0003t0035g0123 a0001c0003t0035g0124 a0001c0003t0036g0081 a0001c0008t0002g0001 a0001c0008t0034g0028 a0001c0011t0004g0073 a0001c0017t0003g0004 a0003c0004t0002g0008 a0003c0004t0002g0012 a0003c0004t0002g0059 a0003c0004t0003g0008 a0003c0004t0004g0060 a0003c0004t0005g0008 a0003c0004t0005g0012 a0003c0004t0005g0058 a0003c0004t0006g0011 a0003c0004t0006g0030 a0003c0004t0006g0050 a0003c0004t0006g0055 a0003c0004t0007g0011 a0003c0004t0007g0052 a0003c0004t0008g0006 a0003c0004t0008g0049 a0003c0004t0008g0051 a0003c0004t0008g0057 a0003c0004t0009g0006 a0003c0004t0009g0012 a0003c0004t0010g0006 a0003c0004t0010g0012 a0003c0004t0012g0030 a0003c0004t0015g0006 a0003c0004t0015g0011 a0003c0004t0015g0062 a0003c0004t0016g0006 a0003c0004t0023g0122 a0003c0004t0030g0008 a0003c0004t0054g0006 a0003c0004t0055g0008 a0003c0004t0060g0061 a0003c0004t0062g0121 a0003c0004t0071g0056 a0009c0013t0009g0009 a0011c0010t0003g0024	213	402	0.5299	0	c.119 others(6): Show c.1191+3G>A		CCDC9	ENSG00000105321.14	transcript	ENST00000221922.11	protein_coding	11/11					chr19	TogoVar
CCER2_chr19_38903980_38917186	38911082	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18969.hp2 NA18969.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0004	a0006c0008t0004g0032 a0006c0008t0004g0032	1	450	0.0022	0	c.192 others(3): Show c.192G>C	p.Glu others(5): Show p.Glu64Asp	CCER2	ENSG00000262484.2	transcript	ENST00000571838.2	protein_coding	4/5	220/1085	192/801	64/266		chr19	TogoVar
CCHCR1_chr6_31137439_31162802	31145306	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG03209.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18948.hp1 NA18965.hp1 NA18975.hp2 NA18983.hp2 NA19002.hp2 NA19077.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0006 a0001c0015 a0001c0017 others(7): Show a0001c0006 a0001c0015 a0001c0017 a0001c0027 a0007c0013 a0007c0016 a0007c0018 a0007c0022 a0007c0023 a0007c0034	a0001c0006t0001 a0001c0015t0001 a0001c0017t0001 others(8): Show a0001c0006t0001 a0001c0015t0001 a0001c0017t0001 a0001c0027t0001 a0007c0013t0003 a0007c0013t0007 a0007c0016t0003 a0007c0018t0003 a0007c0022t0003 a0007c0023t0003 a0007c0034t0003	a0001c0006t0001g0014 a0001c0006t0001g0018 a0001c0006t0001g0023 others(26): Show a0001c0006t0001g0014 a0001c0006t0001g0018 a0001c0006t0001g0023 a0001c0006t0001g0117 a0001c0006t0001g0118 a0001c0006t0001g0119 a0001c0006t0001g0121 a0001c0006t0001g0132 a0001c0006t0001g0139 a0001c0006t0001g0140 a0001c0006t0001g0141 a0001c0006t0001g0142 a0001c0006t0001g0143 a0001c0015t0001g0032 a0001c0015t0001g0116 a0001c0017t0001g0053 a0001c0017t0001g0120 a0001c0027t0001g0144 a0007c0013t0003g0017 a0007c0013t0003g0107 a0007c0013t0003g0110 a0007c0013t0007g0105 a0007c0016t0003g0030 a0007c0018t0003g0103 a0007c0018t0003g0106 a0007c0018t0003g0109 a0007c0022t0003g0051 a0007c0023t0003g0052 a0007c0034t0003g0104	58	455	0.1275	0	c.174 others(6): Show c.1740-4C>T		CCHCR1	ENSG00000204536.15	transcript	ENST00000396268.8	protein_coding	12/17					chr6	TogoVar
CCHCR1_chr6_31137439_31162802	31145498	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19054.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0014	a0001c0006 a0001c0009 a0001c0014 others(19): Show a0001c0006 a0001c0009 a0001c0014 a0001c0015 a0001c0017 a0001c0027 a0002c0004 a0002c0020 a0003c0003 a0004c0008 a0004c0012 a0005c0005 a0007c0013 a0007c0016 a0007c0018 a0007c0022 a0007c0023 a0007c0024 a0007c0034 a0010c0029 a0010c0033 a0014c0028	a0001c0006t0001 a0001c0009t0004 a0001c0009t0005 others(22): Show a0001c0006t0001 a0001c0009t0004 a0001c0009t0005 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0027t0001 a0002c0004t0002 a0002c0020t0002 a0003c0003t0001 a0004c0008t0002 a0004c0012t0002 a0005c0005t0001 a0005c0005t0006 a0007c0013t0003 a0007c0013t0007 a0007c0016t0003 a0007c0018t0003 a0007c0022t0003 a0007c0023t0003 a0007c0024t0003 a0007c0034t0003 a0010c0029t0001 a0010c0033t0002 a0014c0028t0002	a0001c0006t0001g0014 a0001c0006t0001g0018 a0001c0006t0001g0023 others(96): Show a0001c0006t0001g0014 a0001c0006t0001g0018 a0001c0006t0001g0023 a0001c0006t0001g0117 a0001c0006t0001g0118 a0001c0006t0001g0119 a0001c0006t0001g0121 a0001c0006t0001g0132 a0001c0006t0001g0139 a0001c0006t0001g0140 a0001c0006t0001g0141 a0001c0006t0001g0142 a0001c0006t0001g0143 a0001c0009t0004g0020 a0001c0009t0004g0059 a0001c0009t0004g0060 a0001c0009t0004g0167 a0001c0009t0004g0168 a0001c0009t0004g0169 a0001c0009t0004g0170 a0001c0009t0004g0171 a0001c0009t0004g0172 a0001c0009t0004g0173 a0001c0009t0004g0175 a0001c0009t0005g0061 a0001c0009t0005g0174 a0001c0009t0005g0176 a0001c0014t0001g0013 a0001c0015t0001g0032 a0001c0015t0001g0116 a0001c0017t0001g0053 a0001c0017t0001g0120 a0001c0027t0001g0144 a0002c0004t0002g0004 a0002c0004t0002g0016 a0002c0004t0002g0025 a0002c0004t0002g0042 a0002c0004t0002g0062 a0002c0004t0002g0063 a0002c0004t0002g0065 a0002c0004t0002g0066 a0002c0004t0002g0067 a0002c0004t0002g0068 a0002c0004t0002g0069 a0002c0020t0002g0050 a0003c0003t0001g0007 a0003c0003t0001g0015 a0003c0003t0001g0033 a0003c0003t0001g0041 a0003c0003t0001g0148 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0161 a0003c0003t0001g0164 a0004c0008t0002g0003 a0004c0008t0002g0070 a0004c0008t0002g0080 a0004c0008t0002g0081 a0004c0008t0002g0082 a0004c0008t0002g0083 a0004c0012t0002g0027 a0004c0012t0002g0028 a0004c0012t0002g0079 a0004c0012t0002g0084 a0004c0012t0002g0085 a0005c0005t0001g0010 a0005c0005t0001g0039 a0005c0005t0001g0040 a0005c0005t0001g0057 a0005c0005t0001g0058 a0005c0005t0001g0146 a0005c0005t0001g0147 a0005c0005t0001g0149 a0005c0005t0001g0150 a0005c0005t0001g0158 a0005c0005t0001g0159 a0005c0005t0001g0160 a0005c0005t0001g0163 a0005c0005t0006g0101 a0007c0013t0003g0017 a0007c0013t0003g0107 a0007c0013t0003g0110 a0007c0013t0007g0105 a0007c0016t0003g0030 a0007c0018t0003g0103 a0007c0018t0003g0106 a0007c0018t0003g0109 a0007c0022t0003g0051 a0007c0023t0003g0052 a0007c0024t0003g0102 a0007c0024t0003g0108 a0007c0034t0003g0104 a0010c0029t0001g0145 a0010c0033t0002g0064 a0014c0028t0002g0071	231	455	0.5077	0	c.169 others(6): Show c.1694-5T>C		CCHCR1	ENSG00000204536.15	transcript	ENST00000396268.8	protein_coding	11/17					chr6	TogoVar
CCHCR1_chr6_31137439_31162802	31145499	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19054.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0014	a0001c0006 a0001c0009 a0001c0014 others(19): Show a0001c0006 a0001c0009 a0001c0014 a0001c0015 a0001c0017 a0001c0027 a0002c0004 a0002c0020 a0003c0003 a0004c0008 a0004c0012 a0005c0005 a0007c0013 a0007c0016 a0007c0018 a0007c0022 a0007c0023 a0007c0024 a0007c0034 a0010c0029 a0010c0033 a0014c0028	a0001c0006t0001 a0001c0009t0004 a0001c0009t0005 others(22): Show a0001c0006t0001 a0001c0009t0004 a0001c0009t0005 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0027t0001 a0002c0004t0002 a0002c0020t0002 a0003c0003t0001 a0004c0008t0002 a0004c0012t0002 a0005c0005t0001 a0005c0005t0006 a0007c0013t0003 a0007c0013t0007 a0007c0016t0003 a0007c0018t0003 a0007c0022t0003 a0007c0023t0003 a0007c0024t0003 a0007c0034t0003 a0010c0029t0001 a0010c0033t0002 a0014c0028t0002	a0001c0006t0001g0014 a0001c0006t0001g0018 a0001c0006t0001g0023 others(96): Show a0001c0006t0001g0014 a0001c0006t0001g0018 a0001c0006t0001g0023 a0001c0006t0001g0117 a0001c0006t0001g0118 a0001c0006t0001g0119 a0001c0006t0001g0121 a0001c0006t0001g0132 a0001c0006t0001g0139 a0001c0006t0001g0140 a0001c0006t0001g0141 a0001c0006t0001g0142 a0001c0006t0001g0143 a0001c0009t0004g0020 a0001c0009t0004g0059 a0001c0009t0004g0060 a0001c0009t0004g0167 a0001c0009t0004g0168 a0001c0009t0004g0169 a0001c0009t0004g0170 a0001c0009t0004g0171 a0001c0009t0004g0172 a0001c0009t0004g0173 a0001c0009t0004g0175 a0001c0009t0005g0061 a0001c0009t0005g0174 a0001c0009t0005g0176 a0001c0014t0001g0013 a0001c0015t0001g0032 a0001c0015t0001g0116 a0001c0017t0001g0053 a0001c0017t0001g0120 a0001c0027t0001g0144 a0002c0004t0002g0004 a0002c0004t0002g0016 a0002c0004t0002g0025 a0002c0004t0002g0042 a0002c0004t0002g0062 a0002c0004t0002g0063 a0002c0004t0002g0065 a0002c0004t0002g0066 a0002c0004t0002g0067 a0002c0004t0002g0068 a0002c0004t0002g0069 a0002c0020t0002g0050 a0003c0003t0001g0007 a0003c0003t0001g0015 a0003c0003t0001g0033 a0003c0003t0001g0041 a0003c0003t0001g0148 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0161 a0003c0003t0001g0164 a0004c0008t0002g0003 a0004c0008t0002g0070 a0004c0008t0002g0080 a0004c0008t0002g0081 a0004c0008t0002g0082 a0004c0008t0002g0083 a0004c0012t0002g0027 a0004c0012t0002g0028 a0004c0012t0002g0079 a0004c0012t0002g0084 a0004c0012t0002g0085 a0005c0005t0001g0010 a0005c0005t0001g0039 a0005c0005t0001g0040 a0005c0005t0001g0057 a0005c0005t0001g0058 a0005c0005t0001g0146 a0005c0005t0001g0147 a0005c0005t0001g0149 a0005c0005t0001g0150 a0005c0005t0001g0158 a0005c0005t0001g0159 a0005c0005t0001g0160 a0005c0005t0001g0163 a0005c0005t0006g0101 a0007c0013t0003g0017 a0007c0013t0003g0107 a0007c0013t0003g0110 a0007c0013t0007g0105 a0007c0016t0003g0030 a0007c0018t0003g0103 a0007c0018t0003g0106 a0007c0018t0003g0109 a0007c0022t0003g0051 a0007c0023t0003g0052 a0007c0024t0003g0102 a0007c0024t0003g0108 a0007c0034t0003g0104 a0010c0029t0001g0145 a0010c0033t0002g0064 a0014c0028t0002g0071	231	455	0.5077	0	c.169 others(6): Show c.1694-6C>T		CCHCR1	ENSG00000204536.15	transcript	ENST00000396268.8	protein_coding	11/17					chr6	TogoVar
CCHCR1_chr6_31137439_31162802	31151121	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00423.hp1 HG00733.hp1 HG00741.hp1 others(15): Show HG00423.hp1 HG00733.hp1 HG00741.hp1 HG01109.hp1 HG01167.hp2 HG01346.hp2 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02071.hp2 HG02683.hp2 NA18747.hp1 NA18747.hp2 NA18965.hp1 NA18975.hp2 NA18983.hp2 NA20129.hp1 NA20300.hp1	a0007 a0007	a0007c0013 a0007c0016 a0007c0022 others(2): Show a0007c0013 a0007c0016 a0007c0022 a0007c0023 a0007c0034	a0007c0013t0003 a0007c0013t0007 a0007c0016t0003 others(3): Show a0007c0013t0003 a0007c0013t0007 a0007c0016t0003 a0007c0022t0003 a0007c0023t0003 a0007c0034t0003	a0007c0013t0003g0017 a0007c0013t0003g0107 a0007c0013t0003g0110 others(5): Show a0007c0013t0003g0017 a0007c0013t0003g0107 a0007c0013t0003g0110 a0007c0013t0007g0105 a0007c0016t0003g0030 a0007c0022t0003g0051 a0007c0023t0003g0052 a0007c0034t0003g0104	18	455	0.0396	0	c.803 others(3): Show c.803T>A	p.Leu others(6): Show p.Leu268Gln	CCHCR1	ENSG00000204536.15	transcript	ENST00000396268.8	protein_coding	5/18	1005/2971	803/2616	268/871		chr6	TogoVar
CCHCR1_chr6_31137439_31162802	31151126	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19240.hp2 NA19240.hp2	a0013 a0013	a0013c0031 a0013c0031	a0013c0031t0002 a0013c0031t0002	a0013c0031t0002g0100 a0013c0031t0002g0100	1	455	0.0022	0	c.802 others(5): Show c.802-4G>T		CCHCR1	ENSG00000204536.15	transcript	ENST00000396268.8	protein_coding	4/17					chr6	TogoVar
CCHCR1_chr6_31137439_31162802	31151126	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0167 a0001c0009t0004g0167	1	455	0.0022	0	c.802 others(5): Show c.802-4G>A		CCHCR1	ENSG00000204536.15	transcript	ENST00000396268.8	protein_coding	4/17					chr6	TogoVar

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