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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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
CEL_chr9_133056981_133076861	133071240	GCCCCCGT others(26): Show GCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(81): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00609.hp2 HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01993.hp1 HG02015.hp1 HG02040.hp2 HG02083.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG03704.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19065.hp2 NA19066.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0016 others(4): Show a0002 a0003 a0016 a0025 a0059 a0061 a0062	a0002c0002 a0002c0007 a0002c0034 others(6): Show a0002c0002 a0002c0007 a0002c0034 a0003c0001 a0016c0009 a0025c0037 a0059c0052 a0061c0185 a0062c0049	a0002c0002t0001 a0002c0007t0001 a0002c0034t0001 others(6): Show a0002c0002t0001 a0002c0007t0001 a0002c0034t0001 a0003c0001t0001 a0016c0009t0001 a0025c0037t0001 a0059c0052t0001 a0061c0185t0001 a0062c0049t0001	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0007 others(28): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0032 a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0007t0001g0001 a0002c0007t0001g0003 a0002c0007t0001g0019 a0002c0007t0001g0029 a0002c0007t0001g0047 a0002c0034t0001g0001 a0002c0034t0001g0003 a0003c0001t0001g0001 a0003c0001t0001g0003 a0003c0001t0001g0007 a0003c0001t0001g0014 a0003c0001t0001g0028 a0003c0001t0001g0063 a0003c0001t0001g0081 a0016c0009t0001g0001 a0016c0009t0001g0007 a0016c0009t0001g0029 a0016c0009t0001g0082 a0025c0037t0001g0002 a0025c0037t0001g0011 a0059c0052t0001g0025 a0061c0185t0001g0003 a0062c0049t0001g0058	84	416	0.2019	-33	c.196 others(42): Show c.1965_1997delGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG	p.Ala others(13): Show p.Ala656_Gly666del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1987/2381	1965/2262	655/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071240	GCCCCCGT others(59): Show GCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCAC GGGTGACTCCGGGGCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00323.hp1 HG00741.hp1 others(35): Show HG00140.hp1 HG00323.hp1 HG00741.hp1 HG01074.hp2 HG01123.hp2 HG01168.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG02040.hp1 HG02080.hp2 HG02148.hp1 HG02257.hp1 HG02273.hp1 HG02559.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp2 NA18948.hp1 NA18966.hp1 NA18970.hp2 NA18992.hp1 NA18995.hp1 NA19063.hp1 NA19088.hp2 NA19240.hp1	a0004 a0009 a0022 others(3): Show a0004 a0009 a0022 a0041 a0058 a0069	a0004c0006 a0004c0030 a0004c0036 others(8): Show a0004c0006 a0004c0030 a0004c0036 a0004c0232 a0009c0003 a0009c0189 a0022c0150 a0022c0187 a0041c0188 a0058c0051 a0069c0242	a0004c0006t0001 a0004c0030t0001 a0004c0036t0001 others(8): Show a0004c0006t0001 a0004c0030t0001 a0004c0036t0001 a0004c0232t0001 a0009c0003t0001 a0009c0189t0001 a0022c0150t0001 a0022c0187t0001 a0041c0188t0001 a0058c0051t0001 a0069c0242t0001	a0004c0006t0001g0001 a0004c0006t0001g0003 a0004c0006t0001g0006 others(18): Show a0004c0006t0001g0001 a0004c0006t0001g0003 a0004c0006t0001g0006 a0004c0006t0001g0009 a0004c0030t0001g0077 a0004c0030t0001g0094 a0004c0036t0001g0013 a0004c0232t0001g0033 a0009c0003t0001g0001 a0009c0003t0001g0003 a0009c0003t0001g0006 a0009c0003t0001g0007 a0009c0003t0001g0028 a0009c0003t0001g0044 a0009c0003t0001g0069 a0009c0189t0001g0013 a0022c0150t0001g0009 a0022c0187t0001g0013 a0041c0188t0001g0054 a0058c0051t0001g0001 a0069c0242t0001g0003	38	416	0.0914	-66	c.193 others(75): Show c.1932_1997delGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGC CCCCCCCGTGCCGCCCACGGGTGACTCCGG	p.Ala others(13): Show p.Ala645_Gly666del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1954/2381	1932/2262	644/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071240	GCCCCCGT others(92): Show GCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCAC GGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp1 HG02109.hp1 others(10): Show HG01257.hp2 HG01258.hp1 HG02109.hp1 HG02145.hp1 HG02486.hp2 NA18961.hp1 NA18970.hp1 NA18991.hp2 NA19070.hp1 NA19076.hp1 NA19077.hp1 NA19085.hp2 NA20805.hp2	a0014 a0015 a0037 others(1): Show a0014 a0015 a0037 a0038	a0014c0012 a0014c0027 a0015c0016 others(3): Show a0014c0012 a0014c0027 a0015c0016 a0015c0038 a0037c0130 a0038c0131	a0014c0012t0001 a0014c0027t0001 a0015c0016t0001 others(3): Show a0014c0012t0001 a0014c0027t0001 a0015c0016t0001 a0015c0038t0001 a0037c0130t0001 a0038c0131t0001	a0014c0012t0001g0004 a0014c0012t0001g0016 a0014c0027t0001g0004 others(8): Show a0014c0012t0001g0004 a0014c0012t0001g0016 a0014c0027t0001g0004 a0014c0027t0001g0073 a0015c0016t0001g0004 a0015c0016t0001g0010 a0015c0016t0001g0016 a0015c0038t0001g0015 a0015c0038t0001g0024 a0037c0130t0001g0004 a0038c0131t0001g0010	13	416	0.0313	-99	c.189 others(108): Show c.1899_1997delGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGC CCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCA CGGGTGACTCCGG	p.Ala others(13): Show p.Ala634_Gly666del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1921/2381	1899/2262	633/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071240	GCCCCCGT others(125): Show GCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCAC GGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC CCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02896.hp2 NA18747.hp2 NA19240.hp2 HG02896.hp2 NA18747.hp2 NA19240.hp2	a0020 a0035 a0020 a0035	a0020c0025 a0035c0111 a0020c0025 a0035c0111	a0020c0025t0001 a0035c0111t0001 a0020c0025t0001 a0035c0111t0001	a0020c0025t0001g0001 a0035c0111t0001g0042 a0020c0025t0001g0001 a0035c0111t0001g0042	3	416	0.0072	-132	c.186 others(9): Show c.1866_1997del	p.Ala others(13): Show p.Ala623_Gly666del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1888/2381	1866/2262	622/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071240	GCCCCCGT others(158): Show GCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCAC GGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC CCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACG GGTGACTCCGGGGCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp1 HG03486.hp1 HG03654.hp1 HG01109.hp1 HG03486.hp1 HG03654.hp1	a0051 a0052 a0064 a0051 a0052 a0064	a0051c0078 a0052c0079 a0064c0045 a0051c0078 a0052c0079 a0064c0045	a0051c0078t0001 a0052c0079t0001 a0064c0045t0001 a0051c0078t0001 a0052c0079t0001 a0064c0045t0001	a0051c0078t0001g0041 a0052c0079t0001g0031 a0064c0045t0001g0035 a0051c0078t0001g0041 a0052c0079t0001g0031 a0064c0045t0001g0035	3	416	0.0072	-165	c.183 others(9): Show c.1833_1997del	p.Ala others(13): Show p.Ala612_Gly666del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1855/2381	1833/2262	611/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071369	GCCCCCCC others(158): Show GCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCC CACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG CCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCC ACGGGTGACGCCGGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02897.hp2 HG02897.hp2	a0030 a0030	a0030c0044 a0030c0044	a0030c0044t0001 a0030c0044t0001	a0030c0044t0001g0022 a0030c0044t0001g0022	1	416	0.0024	-165	c.189 others(9): Show c.1899_2063del	p.Ala others(13): Show p.Ala634_Gly688del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1921/2381	1899/2262	633/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071405	CCCCCCGT others(224): Show CCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCAC GGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCC CCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACG GGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCC CCCCGTGACCCCCACGGGTGACTCCGAGACCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0007 a0042 a0007 a0042	a0007c0125 a0042c0177 a0007c0125 a0042c0177	a0007c0125t0001 a0042c0177t0001 a0007c0125t0001 a0042c0177t0001	a0007c0125t0001g0027 a0042c0177t0001g0027 a0007c0125t0001g0027 a0042c0177t0001g0027	2	416	0.0048	-231	c.194 others(9): Show c.1941_2171del	p.Val others(13): Show p.Val648_Pro724del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1963/2381	1941/2262	647/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071410	CGTGCCGC others(257): Show CGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTG ACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCC GTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGA CTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCG TGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGAC TCCGGGGCCCCCCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02895.hp1 HG03471.hp2 NA20129.hp1 HG02895.hp1 HG03471.hp2 NA20129.hp1	a0019 a0019	a0019c0014 a0019c0014	a0019c0014t0001 a0019c0014t0001	a0019c0014t0001g0017 a0019c0014t0001g0052 a0019c0014t0001g0017 a0019c0014t0001g0052	3	416	0.0072	-264	c.191 others(9): Show c.1914_2177del	p.Pro others(13): Show p.Pro639_Pro726del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1936/2381	1914/2262	638/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071435	GCCCCCCC others(92): Show GCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCC CACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG01070.hp1 HG01081.hp1 others(1): Show HG00140.hp2 HG01070.hp1 HG01081.hp1 HG02735.hp1	a0024 a0029 a0024 a0029	a0024c0166 a0024c0240 a0029c0018 a0024c0166 a0024c0240 a0029c0018	a0024c0166t0001 a0024c0240t0001 a0029c0018t0001 a0024c0166t0001 a0024c0240t0001 a0029c0018t0001	a0024c0166t0001g0001 a0024c0240t0001g0001 a0029c0018t0001g0001 a0024c0166t0001g0001 a0024c0240t0001g0001 a0029c0018t0001g0001	4	416	0.0096	-99	c.196 others(108): Show c.1965_2063delGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGC CCCCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCA CGGGTGACTCCGG	p.Ala others(13): Show p.Ala656_Gly688del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1987/2381	1965/2262	655/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071443	CGTGCCGC others(224): Show CGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTG ACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCC GTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGA CTCCGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCGCCCCCG TGCCGCCCACGGGTGACTCCGGGGCCCCCCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02976.hp1 HG02976.hp1	a0063 a0063	a0063c0235 a0063c0235	a0063c0235t0001 a0063c0235t0001	a0063c0235t0001g0034 a0063c0235t0001g0034	1	416	0.0024	-231	c.194 others(9): Show c.1947_2177del	p.Pro others(13): Show p.Pro650_Pro726del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1969/2381	1947/2262	649/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071467	GGCCCCCC others(92): Show GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGC CCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp2 HG01069.hp2	a0036 a0036	a0036c0207 a0036c0207	a0036c0207t0001 a0036c0207t0001	a0036c0207t0001g0062 a0036c0207t0001g0062	1	416	0.0024	-99	c.199 others(108): Show c.1998_2096delCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGCC CCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCA CGGGTGACTCCGG	p.Ala others(13): Show p.Ala667_Gly699del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2020/2381	1998/2262	666/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071534	CCCCCCCC others(26): Show CCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp2 HG00558.hp1 HG00639.hp1 others(29): Show HG00323.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG01358.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02155.hp2 HG02257.hp2 HG02602.hp2 HG03710.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18948.hp2 NA18950.hp1 NA18960.hp2 NA18965.hp2 NA18967.hp1 NA18986.hp1 NA19011.hp2 NA19062.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA20752.hp2 NA20905.hp2	a0001 a0004 a0005 others(7): Show a0001 a0004 a0005 a0006 a0007 a0010 a0011 a0014 a0022 a0025	a0001c0193 a0001c0200 a0004c0017 others(13): Show a0001c0193 a0001c0200 a0004c0017 a0005c0205 a0006c0138 a0006c0217 a0006c0223 a0007c0209 a0007c0210 a0007c0216 a0010c0227 a0010c0228 a0011c0004 a0014c0219 a0022c0186 a0025c0037	a0001c0193t0001 a0001c0200t0001 a0004c0017t0001 others(13): Show a0001c0193t0001 a0001c0200t0001 a0004c0017t0001 a0005c0205t0001 a0006c0138t0001 a0006c0217t0001 a0006c0223t0001 a0007c0209t0001 a0007c0210t0001 a0007c0216t0001 a0010c0227t0001 a0010c0228t0001 a0011c0004t0001 a0014c0219t0001 a0022c0186t0001 a0025c0037t0001	a0001c0193t0001g0002 a0001c0200t0001g0002 a0004c0017t0001g0002 others(18): Show a0001c0193t0001g0002 a0001c0200t0001g0002 a0004c0017t0001g0002 a0004c0017t0001g0005 a0004c0017t0001g0011 a0005c0205t0001g0005 a0006c0138t0001g0003 a0006c0217t0001g0002 a0006c0223t0001g0002 a0007c0209t0001g0026 a0007c0210t0001g0002 a0007c0216t0001g0005 a0010c0227t0001g0021 a0010c0228t0001g0002 a0011c0004t0001g0002 a0011c0004t0001g0018 a0011c0004t0001g0048 a0014c0219t0001g0002 a0022c0186t0001g0005 a0025c0037t0001g0002 a0025c0037t0001g0011	32	416	0.0769	-33	c.206 others(42): Show c.2064_2096delCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG	p.Ala others(13): Show p.Ala689_Gly699del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2086/2381	2064/2262	688/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071581	GCCCACGG others(26): Show GCCCACGGGTGACTCCGGGGCCCCCCCCGTGACC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02970.hp2 HG02970.hp2	a0041 a0041	a0041c0188 a0041c0188	a0041c0188t0001 a0041c0188t0001	a0041c0188t0001g0054 a0041c0188t0001g0054	1	416	0.0024	-33	c.209 others(42): Show c.2096_2128delGGGCCCCCCCCGTGACCCCCACGGGTGACTCCG	p.Gly others(13): Show p.Gly699_Ser709del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2118/2381	2096/2262	699/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071614	CCCCACGG others(26): Show CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00733.hp2 HG01517.hp2 others(1): Show HG00280.hp1 HG00733.hp2 HG01517.hp2 HG01943.hp1	a0010 a0026 a0010 a0026	a0010c0040 a0026c0039 a0010c0040 a0026c0039	a0010c0040t0001 a0026c0039t0001 a0010c0040t0001 a0026c0039t0001	a0010c0040t0001g0002 a0026c0039t0001g0002 a0010c0040t0001g0002 a0026c0039t0001g0002	4	416	0.0096	-33	c.212 others(42): Show c.2129_2161delAGACCGCCCCCGTGCCGCCCACGGGTGACTCCG	p.Glu others(13): Show p.Glu710_Ser720del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2151/2381	2129/2262	710/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071669	CCCCCTGT others(26): Show CCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp2 HG00738.hp2	a0004 a0004	a0004c0231 a0004c0231	a0004c0231t0001 a0004c0231t0001	a0004c0231t0001g0002 a0004c0231t0001g0002	1	416	0.0024	-33	c.218 others(42): Show c.2184_2216delGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCAC	p.Gly others(13): Show p.Gly729_Thr739del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2206/2381	2184/2262	728/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEMP1_chr16_2525035_2536408	2530762	GAGGGCCT others(5): Show GAGGGCCTGGGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19012.hp2 NA19012.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0000 a0005c0004t0001g0000	1	348	0.0029	-12	c.300 others(19): Show c.300_311delGCCCCAGGCCCT	p.Pro others(13): Show p.Pro101_Leu104del	CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding	1/1	646/1374	300/744	100/247		chr16	TogoVar
CEP68_chr2_65051416_65092004	65071512	GAAC GAAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01081.hp2 HG01123.hp1 HG01261.hp2 others(16): Show HG01081.hp2 HG01123.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01517.hp1 HG02055.hp2 HG02683.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03471.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA19030.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp2	a0005 a0005	a0005c0005 a0005c0029 a0005c0005 a0005c0029	a0005c0005t0001 a0005c0005t0005 a0005c0005t0014 others(3): Show a0005c0005t0001 a0005c0005t0005 a0005c0005t0014 a0005c0005t0021 a0005c0005t0022 a0005c0029t0005	a0005c0005t0001g0137 a0005c0005t0001g0139 a0005c0005t0005g0012 others(11): Show a0005c0005t0001g0137 a0005c0005t0001g0139 a0005c0005t0005g0012 a0005c0005t0005g0030 a0005c0005t0005g0032 a0005c0005t0005g0134 a0005c0005t0005g0136 a0005c0005t0005g0138 a0005c0005t0005g0141 a0005c0005t0014g0031 a0005c0005t0014g0140 a0005c0005t0021g0135 a0005c0005t0022g0244 a0005c0029t0005g0068	19	360	0.0528	-3	c.423 others(10): Show c.423_425delAAC	p.Thr others(6): Show p.Thr142del	CEP68	ENSG00000011523.15	transcript	ENST00000377990.7	protein_coding	3/7	582/5803	423/2274	141/757	INFO_REALIGN_3_PRIME	chr2	TogoVar
CEP68_chr2_65051416_65092004	65072937	AAGG AAGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp1 HG02559.hp1 HG02809.hp1 others(2): Show HG02055.hp1 HG02559.hp1 HG02809.hp1 HG02922.hp1 HG03486.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0009 a0006c0008t0001 a0006c0008t0009	a0006c0008t0001g0247 a0006c0008t0009g0029 a0006c0008t0009g0117 others(1): Show a0006c0008t0001g0247 a0006c0008t0009g0029 a0006c0008t0009g0117 a0006c0008t0009g0120	5	360	0.0139	-3	c.184 others(12): Show c.1847_1849delGAG	p.Gly others(6): Show p.Gly616del	CEP68	ENSG00000011523.15	transcript	ENST00000377990.7	protein_coding	3/7	2006/5803	1847/2274	616/757	INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP210_chr2_169640425_169699405	169650384	TTTTCTC TTTTCTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03209.hp2 HG03225.hp2 NA20129.hp2 HG03209.hp2 HG03225.hp2 NA20129.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0255 a0007c0009t0001g0256 a0007c0009t0001g0257 a0007c0009t0001g0255 a0007c0009t0001g0256 a0007c0009t0001g0257	3	390	0.0077	-6	c.109 others(15): Show c.1091_1096delGAGAAA	p.Arg others(13): Show p.Arg364_Glu365del	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	7/9	1174/2153	1091/1659	364/552		chr2	TogoVar
CFAP46_chr10_132803392_132947570	132877944	ATTCTCCT others(17): Show ATTCTCCTTCTCTTTACTCCTCTCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp2 HG01069.hp2	a0070 a0070	a0070c0074 a0070c0074	a0070c0074t0002 a0070c0074t0002	a0070c0074t0002g0006 a0070c0074t0002g0006	1	246	0.0041	-24	c.412 others(33): Show c.4125_4148delGGAGAGGAGTAAAGAGAAGGAGAA	p.Lys others(15): Show p.Lys1375_Glu1382del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	30/58	4234/8263	4125/8148	1375/2715		chr10	TogoVar
CFAP74_chr1_1916957_2008786	1923061	GTGTCAAA others(5): Show GTGTCAAACTGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18950.hp2 NA18950.hp2	a0043 a0043	a0043c0088 a0043c0088	a0043c0088t0001 a0043c0088t0001	a0043c0088t0001g0137 a0043c0088t0001g0137	1	278	0.0036	-12	c.459 others(21): Show c.4595_4606delTCCAGTTTGACA	p.Ile others(15): Show p.Ile1532_Asp1535del	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	37/39	4711/5355	4595/4920	1532/1639		chr1	TogoVar
CFAP92_chr3_128904873_128999076	128915468	TTTC TTTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp1 HG01891.hp1 HG02965.hp2 HG00642.hp1 HG01891.hp1 HG02965.hp2	a0004 a0004	a0004c0010 a0004c0030 a0004c0010 a0004c0030	a0004c0010t0001 a0004c0030t0001 a0004c0010t0001 a0004c0030t0001	a0004c0010t0001g0329 a0004c0010t0001g0330 a0004c0030t0001g0328 a0004c0010t0001g0329 a0004c0010t0001g0330 a0004c0030t0001g0328	3	342	0.0088	-3	c.300 others(12): Show c.3009_3011delGAA	p.Lys others(7): Show p.Lys1004del	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	14/16	3140/3870	3009/3315	1003/1104		chr3	TogoVar
CGREF1_chr2_27095594_27124128	27101385	GGCCTCTG others(44): Show GGCCTCTGCCTGGCCCCCAGCTTCCCCTCTGGGCCCGGGGGCATCTCCTT CA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.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 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0011 a0001c0012 a0003c0005 a0004c0006 a0005c0010 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0017 a0001c0004t0001 a0001c0004t0015 a0001c0004t0016 a0001c0009t0002 a0001c0011t0002 a0001c0012t0002 a0003c0005t0001 a0004c0006t0002 a0005c0010t0002 a0006c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(308): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0002g0212 a0001c0001t0006g0236 a0001c0001t0006g0283 a0001c0001t0006g0302 a0001c0001t0010g0196 a0001c0001t0010g0231 a0001c0001t0011g0023 a0001c0001t0012g0024 a0001c0001t0014g0223 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0319 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0079 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0216 a0001c0002t0002g0241 a0001c0002t0004g0013 a0001c0002t0004g0144 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0005g0009 a0001c0002t0005g0010 a0001c0002t0005g0036 a0001c0002t0007g0006 a0001c0002t0007g0032 a0001c0002t0008g0076 a0001c0002t0008g0082 a0001c0002t0013g0101 a0001c0002t0017g0323 a0001c0004t0001g0022 a0001c0004t0001g0033 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0237 a0001c0004t0001g0247 a0001c0004t0001g0252 a0001c0004t0001g0313 a0001c0004t0001g0322 a0001c0004t0015g0290 a0001c0004t0016g0321 a0001c0009t0002g0078 a0001c0011t0002g0145 a0001c0012t0002g0080 a0003c0005t0001g0163 a0003c0005t0001g0167 a0003c0005t0001g0191 a0003c0005t0001g0194 a0003c0005t0001g0218 a0003c0005t0001g0261 a0004c0006t0002g0059 a0004c0006t0002g0108 a0005c0010t0002g0067 a0006c0008t0001g0208	338	352	0.9602	-51	c.795 others(58): Show c.795_845delTGAAGGAGATGCCCCCGGGCCCAGAGGGGAAGCTGGGG GCCAGGCAGAGGC	p.Glu others(13): Show p.Glu266_Ala282del	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	6/6	1139/1931	795/957	265/318		chr2	TogoVar
CHGA_chr14_92918150_92940285	92931578	AGAG AGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02717.hp1 HG02809.hp1 NA18971.hp1 others(1): Show HG02717.hp1 HG02809.hp1 NA18971.hp1 NA20300.hp1	a0007 a0013 a0014 a0007 a0013 a0014	a0007c0013 a0013c0030 a0014c0031 a0007c0013 a0013c0030 a0014c0031	a0007c0013t0001 a0013c0030t0001 a0014c0031t0001 a0007c0013t0001 a0013c0030t0001 a0014c0031t0001	a0007c0013t0001g0055 a0007c0013t0001g0056 a0013c0030t0001g0002 others(1): Show a0007c0013t0001g0055 a0007c0013t0001g0056 a0013c0030t0001g0002 a0014c0031t0001g0005	4	447	0.0090	-3	c.707 others(10): Show c.707_709delAGG	p.Glu others(6): Show p.Glu236del	CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding	6/8	917/1985	707/1374	236/457	INFO_REALIGN_3_PRIME	chr14	TogoVar
CHML_chr1_241623851_241645369	241635368	TTCAGTGA others(23): Show TTCAGTGAAGGTATTAGACACCCCCAAAGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02895.hp1 HG02895.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0076 a0009c0010t0001g0076	1	452	0.0022	-30	c.369 others(37): Show c.369_398delTTCTTTGGGGGTGTCTAATACCTTCACTGA	p.Ser others(13): Show p.Ser124_Glu133del	CHML	ENSG00000203668.3	transcript	ENST00000366553.3	protein_coding	2/2	1193/7711	369/1971	123/656		chr1	TogoVar
CIROP_chr14_23094062_23109989	23104886	GGCA GGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00408.hp1 HG00423.hp2 others(258): Show HG00099.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0004 a0005 others(12): Show a0001 a0004 a0005 a0006 a0008 a0010 a0011 a0020 a0021 a0024 a0025 a0026 a0027 a0038 a0039	a0001c0001 a0001c0016 a0001c0023 others(15): Show a0001c0001 a0001c0016 a0001c0023 a0004c0004 a0005c0005 a0006c0007 a0006c0009 a0008c0008 a0010c0012 a0011c0011 a0020c0020 a0021c0021 a0024c0029 a0025c0028 a0026c0030 a0027c0031 a0038c0035 a0039c0036	a0001c0001t0001 a0001c0016t0001 a0001c0023t0001 others(16): Show a0001c0001t0001 a0001c0016t0001 a0001c0023t0001 a0004c0004t0001 a0005c0005t0002 a0005c0005t0004 a0006c0007t0001 a0006c0009t0001 a0008c0008t0003 a0010c0012t0002 a0011c0011t0002 a0020c0020t0001 a0021c0021t0002 a0024c0029t0002 a0025c0028t0002 a0026c0030t0001 a0027c0031t0002 a0038c0035t0001 a0039c0036t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0016t0001g0020 a0001c0023t0001g0031 a0004c0004t0001g0003 a0004c0004t0001g0038 a0004c0004t0001g0066 a0004c0004t0001g0067 a0004c0004t0001g0068 a0005c0005t0002g0004 a0005c0005t0002g0041 a0005c0005t0004g0069 a0006c0007t0001g0008 a0006c0007t0001g0030 a0006c0007t0001g0055 a0006c0009t0001g0013 a0006c0009t0001g0056 a0008c0008t0003g0010 a0008c0008t0003g0027 a0008c0008t0003g0057 a0008c0008t0003g0058 a0010c0012t0002g0014 a0011c0011t0002g0016 a0011c0011t0002g0048 a0020c0020t0001g0029 a0020c0020t0001g0047 a0021c0021t0002g0024 a0024c0029t0002g0039 a0025c0028t0002g0037 a0026c0030t0001g0042 a0027c0031t0002g0040 a0038c0035t0001g0049 a0039c0036t0001g0050	261	450	0.5800	-3	c.32_ others(8): Show c.32_34delTGC	p.Leu others(5): Show p.Leu11del	CIROP	ENSG00000283654.3	transcript	ENST00000637218.2	protein_coding	1/16	103/2656	32/2367	11/788		chr14	TogoVar
CIROP_chr14_23094062_23109989	23104886	GGCAGCAG others(8): Show GGCAGCAGCAGCAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp1 HG00558.hp2 HG01109.hp2 others(36): Show HG00423.hp1 HG00558.hp2 HG01109.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 NA18522.hp2 NA18941.hp2 NA18967.hp1 NA18979.hp2 NA18988.hp1 NA19043.hp1 NA19062.hp2 NA19064.hp1 NA20129.hp2	a0007 a0015 a0017 others(5): Show a0007 a0015 a0017 a0019 a0028 a0029 a0036 a0037	a0007c0006 a0007c0039 a0007c0041 others(8): Show a0007c0006 a0007c0039 a0007c0041 a0015c0014 a0017c0017 a0019c0027 a0019c0037 a0028c0026 a0029c0025 a0036c0038 a0037c0040	a0007c0006t0001 a0007c0039t0001 a0007c0041t0001 others(8): Show a0007c0006t0001 a0007c0039t0001 a0007c0041t0001 a0015c0014t0002 a0017c0017t0001 a0019c0027t0001 a0019c0037t0001 a0028c0026t0002 a0029c0025t0002 a0036c0038t0002 a0037c0040t0001	a0007c0006t0001g0006 a0007c0006t0001g0036 a0007c0039t0001g0062 others(10): Show a0007c0006t0001g0006 a0007c0006t0001g0036 a0007c0039t0001g0062 a0007c0041t0001g0064 a0015c0014t0002g0028 a0015c0014t0002g0032 a0017c0017t0001g0021 a0019c0027t0001g0035 a0019c0037t0001g0061 a0028c0026t0002g0034 a0029c0025t0002g0033 a0036c0038t0002g0063 a0037c0040t0001g0065	39	450	0.0867	-15	c.20_ others(20): Show c.20_34delTGCTGCTGCTGCTGC	p.Leu others(10): Show p.Leu7_Leu11del	CIROP	ENSG00000283654.3	transcript	ENST00000637218.2	protein_coding	1/16	103/2656	20/2367	7/788		chr14	TogoVar
CITED2_chr6_139366807_139379648	139373346	TTGCCGC TTGCCGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02451.hp1 HG02895.hp2 HG02896.hp1 HG02451.hp1 HG02895.hp2 HG02896.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0010 a0002c0004t0001g0010	3	322	0.0093	-6	c.593 others(13): Show c.593_598delGCGGCA	p.Ser others(13): Show p.Ser198_Gly199del	CITED2	ENSG00000164442.11	transcript	ENST00000367651.4	protein_coding	2/2	842/2382	593/813	198/270		chr6	TogoVar
CITED2_chr6_139366807_139379648	139373408	AGAGCCGC others(20): Show AGAGCCGCCGGGGGTGCTGCTGCCGCCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0035 a0004c0008t0002g0035	1	322	0.0031	-27	c.510 others(34): Show c.510_536delGGGCGGCAGCAGCACCCCCGGCGGCTC	p.Gly others(13): Show p.Gly171_Ser179del	CITED2	ENSG00000164442.11	transcript	ENST00000367651.4	protein_coding	2/2	780/2382	510/813	170/270		chr6	TogoVar
CKAP4_chr12_106232881_106253020	106247711	GGGC GGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(261): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 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.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(8): Show a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013	a0002c0002 a0002c0007 a0003c0003 others(14): Show a0002c0002 a0002c0007 a0003c0003 a0003c0004 a0003c0010 a0003c0013 a0003c0015 a0003c0020 a0004c0005 a0005c0006 a0007c0011 a0008c0009 a0009c0012 a0010c0018 a0011c0019 a0012c0017 a0013c0016	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(54): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0015 a0002c0002t0017 a0002c0002t0021 a0002c0002t0026 a0002c0002t0028 a0002c0002t0036 a0002c0002t0044 a0002c0007t0002 a0002c0007t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0006 a0003c0003t0007 a0003c0003t0008 a0003c0003t0010 a0003c0003t0014 a0003c0003t0019 a0003c0003t0022 a0003c0003t0023 a0003c0003t0024 a0003c0003t0025 a0003c0003t0033 a0003c0003t0034 a0003c0003t0035 a0003c0003t0038 a0003c0003t0041 a0003c0003t0042 a0003c0003t0043 a0003c0004t0009 a0003c0004t0011 a0003c0004t0037 a0003c0004t0039 a0003c0010t0003 a0003c0010t0021 a0003c0010t0029 a0003c0013t0010 a0003c0015t0001 a0003c0020t0001 a0004c0005t0001 a0004c0005t0003 a0004c0005t0010 a0005c0006t0013 a0005c0006t0020 a0007c0011t0002 a0007c0011t0003 a0008c0009t0001 a0009c0012t0004 a0010c0018t0032 a0011c0019t0014 a0012c0017t0003 a0013c0016t0002	a0002c0002t0001g0070 a0002c0002t0002g0002 a0002c0002t0002g0004 others(108): Show a0002c0002t0001g0070 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0036 a0002c0002t0002g0047 a0002c0002t0002g0065 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0118 a0002c0002t0003g0003 a0002c0002t0003g0034 a0002c0002t0003g0045 a0002c0002t0003g0058 a0002c0002t0003g0066 a0002c0002t0003g0078 a0002c0002t0003g0086 a0002c0002t0003g0104 a0002c0002t0003g0119 a0002c0002t0005g0038 a0002c0002t0015g0037 a0002c0002t0017g0062 a0002c0002t0017g0072 a0002c0002t0021g0088 a0002c0002t0026g0055 a0002c0002t0028g0069 a0002c0002t0036g0071 a0002c0002t0044g0073 a0002c0007t0002g0039 a0002c0007t0002g0063 a0002c0007t0003g0075 a0003c0003t0001g0009 a0003c0003t0001g0020 a0003c0003t0001g0035 a0003c0003t0001g0042 a0003c0003t0001g0094 a0003c0003t0002g0010 a0003c0003t0002g0059 a0003c0003t0002g0103 a0003c0003t0003g0014 a0003c0003t0003g0043 a0003c0003t0003g0090 a0003c0003t0004g0005 a0003c0003t0004g0046 a0003c0003t0004g0067 a0003c0003t0004g0068 a0003c0003t0004g0091 a0003c0003t0006g0008 a0003c0003t0006g0022 a0003c0003t0007g0021 a0003c0003t0007g0041 a0003c0003t0007g0098 a0003c0003t0007g0101 a0003c0003t0008g0013 a0003c0003t0008g0084 a0003c0003t0008g0102 a0003c0003t0010g0117 a0003c0003t0014g0023 a0003c0003t0019g0081 a0003c0003t0019g0085 a0003c0003t0022g0097 a0003c0003t0022g0116 a0003c0003t0023g0040 a0003c0003t0024g0106 a0003c0003t0024g0107 a0003c0003t0025g0044 a0003c0003t0033g0092 a0003c0003t0034g0093 a0003c0003t0035g0095 a0003c0003t0038g0096 a0003c0003t0041g0110 a0003c0003t0042g0111 a0003c0003t0043g0109 a0003c0004t0009g0025 a0003c0004t0009g0048 a0003c0004t0009g0124 a0003c0004t0009g0125 a0003c0004t0011g0024 a0003c0004t0011g0121 a0003c0004t0011g0122 a0003c0004t0037g0120 a0003c0004t0039g0123 a0003c0010t0003g0060 a0003c0010t0021g0061 a0003c0010t0029g0099 a0003c0013t0010g0082 a0003c0013t0010g0083 a0003c0015t0001g0100 a0003c0020t0001g0112 a0004c0005t0001g0019 a0004c0005t0003g0018 a0004c0005t0010g0032 a0005c0006t0013g0026 a0005c0006t0013g0129 a0005c0006t0020g0049 a0007c0011t0002g0127 a0007c0011t0002g0128 a0007c0011t0003g0126 a0008c0009t0001g0033 a0008c0009t0001g0057 a0009c0012t0004g0031 a0010c0018t0032g0105 a0011c0019t0014g0108 a0012c0017t0003g0064 a0013c0016t0002g0074	264	418	0.6316	-3	c.138 others(10): Show c.138_140delGCC	p.Pro others(5): Show p.Pro47del	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding	1/2	309/3121	138/1809	46/602		chr12	TogoVar
CLASRP_chr19_45034045_45075956	45067487	GAGCCGCA others(5): Show GAGCCGCAGCCGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA21309.hp1 NA21309.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0110 a0010c0010t0001g0110	1	364	0.0028	-12	c.157 others(21): Show c.1577_1588delGCAGCCGCAGCC	p.Arg others(13): Show p.Arg526_Ser529del	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding	14/21	1670/2229	1577/2025	526/674	INFO_REALIGN_3_PRIME	chr19	TogoVar
CLCA4_chr1_86542078_86585754	86580212	ATCCTACA others(5): Show ATCCTACACCTAC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18906.hp1 NA18906.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0017 a0010c0015t0001g0017	1	334	0.0030	-12	c.263 others(21): Show c.2634_2645delACCTACTCCTAC	p.Pro others(13): Show p.Pro879_Thr882del	CLCA4	ENSG00000016602.9	transcript	ENST00000370563.3	protein_coding	14/14	2676/3211	2634/2760	878/919	INFO_REALIGN_3_PRIME	chr1	TogoVar
CLCA4_chr1_86542078_86585754	86580213	TCCTACA TCCTACA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(191): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18973.hp1 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0007 a0008 others(2): Show a0001 a0007 a0008 a0011 a0012	a0001c0001 a0001c0006 a0001c0012 others(4): Show a0001c0001 a0001c0006 a0001c0012 a0007c0010 a0008c0009 a0011c0013 a0012c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0006t0001 a0001c0012t0001 a0007c0010t0001 a0008c0009t0002 a0011c0013t0001 a0012c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(112): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0005g0132 a0001c0006t0001g0020 a0001c0006t0001g0183 a0001c0006t0001g0184 a0001c0012t0001g0003 a0007c0010t0001g0015 a0008c0009t0002g0002 a0008c0009t0002g0087 a0011c0013t0001g0138 a0012c0017t0001g0006	194	334	0.5808	-6	c.263 others(15): Show c.2634_2639delACCTAC	p.Pro others(13): Show p.Pro879_Thr880del	CLCA4	ENSG00000016602.9	transcript	ENST00000370563.3	protein_coding	14/14	2676/3211	2634/2760	878/919	INFO_REALIGN_3_PRIME	chr1	TogoVar
CLEC4M_chr19_7758243_7774605	7765776	AGCTGAAG others(62): Show AGCTGAAGGCTGCAGTGGGTGAGTTGCCAGAGAAATCCAAGCTGCAGGAG ATCTACCAGGAGCTGACCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00438.hp1 HG00597.hp2 others(49): Show HG00280.hp1 HG00438.hp1 HG00597.hp2 HG00673.hp1 HG01074.hp1 HG01243.hp1 HG01358.hp1 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG02055.hp1 HG02109.hp2 HG02132.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 NA18906.hp1 NA18991.hp2 NA19002.hp2 NA19030.hp2 NA19043.hp1 NA19082.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0003c0005 a0005c0006 a0003c0004 a0003c0005 a0005c0006	a0003c0004t0001 a0003c0004t0003 a0003c0004t0005 others(6): Show a0003c0004t0001 a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 a0003c0005t0001 a0003c0005t0002 a0003c0005t0007 a0003c0005t0009 a0005c0006t0004	a0003c0004t0001g0044 a0003c0004t0003g0012 a0003c0004t0003g0048 others(13): Show a0003c0004t0001g0044 a0003c0004t0003g0012 a0003c0004t0003g0048 a0003c0004t0005g0008 a0003c0004t0005g0043 a0003c0004t0008g0012 a0003c0005t0001g0010 a0003c0005t0001g0058 a0003c0005t0001g0059 a0003c0005t0001g0066 a0003c0005t0001g0074 a0003c0005t0002g0057 a0003c0005t0007g0026 a0003c0005t0009g0021 a0005c0006t0004g0006 a0005c0006t0004g0060	52	460	0.1130	-69	c.558 others(76): Show c.558_626delCCGGCTGAAGGCTGCAGTGGGTGAGTTGCCAGAGAAAT CCAAGCTGCAGGAGATCTACCAGGAGCTGAC	p.Arg others(13): Show p.Arg187_Thr209del	CLEC4M	ENSG00000104938.18	transcript	ENST00000327325.10	protein_coding	4/7	582/1841	558/1200	186/399	INFO_REALIGN_3_PRIME	chr19	TogoVar
CLEC4M_chr19_7758243_7774605	7765845	GGCTGAAG others(200): Show GGCTGAAGGCTGCAGTGGGTGAGTTGCCAGAGAAATCCAAGCTGCAGGAG ATCTACCAGGAGCTGACCCGGCTGAAGGCTGCAGTGGGTGAGTTGCCAGA GAAATCCAAGCTGCAGGAGATCTACCAGGAGCTGACCCGGCTGAAGGCTG CAGTGGGTGAGTTGCCAGAGAAATCCAAGCTGCAGGAGATCTACCAGGAG CTGACGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG01517.hp1 HG00323.hp1 HG01517.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0015 a0008c0010t0003g0015	2	460	0.0044	-207	c.491 others(7): Show c.491_697del	p.Arg others(13): Show p.Arg164_Thr232del	CLEC4M	ENSG00000104938.18	transcript	ENST00000327325.10	protein_coding	4/7	515/1841	491/1200	164/399	INFO_REALIGN_3_PRIME	chr19	TogoVar
CLEC4M_chr19_7758243_7774605	7765914	GGCTGAAG others(131): Show GGCTGAAGGCTGCAGTGGGTGAGTTGCCAGAGAAATCCAAGCTGCAGGAG ATCTACCAGGAGCTGACCCGGCTGAAGGCTGCAGTGGGTGAGTTGCCAGA GAAATCCAAGCTGCAGGAGATCTACCAGGAGCTGACGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(85): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02809.hp2 HG03098.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA19002.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19074.hp1 NA19079.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA21309.hp2	a0002 a0006 a0010 others(2): Show a0002 a0006 a0010 a0011 a0017	a0002c0002 a0002c0014 a0006c0007 others(3): Show a0002c0002 a0002c0014 a0006c0007 a0010c0012 a0011c0022 a0017c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0012 a0002c0014t0002 a0006c0007t0001 a0006c0007t0002 a0010c0012t0001 a0011c0022t0001 a0017c0013t0001	a0002c0002t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0022 others(17): Show a0002c0002t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0033 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0002g0016 a0002c0002t0002g0039 a0002c0002t0003g0015 a0002c0002t0003g0034 a0002c0002t0005g0003 a0002c0002t0012g0003 a0002c0014t0002g0016 a0006c0007t0001g0032 a0006c0007t0002g0042 a0010c0012t0001g0003 a0011c0022t0001g0003 a0017c0013t0001g0003	88	460	0.1913	-138	c.560 others(7): Show c.560_697del	p.Arg others(13): Show p.Arg187_Thr232del	CLEC4M	ENSG00000104938.18	transcript	ENST00000327325.10	protein_coding	4/7	584/1841	560/1200	187/399	INFO_REALIGN_3_PRIME	chr19	TogoVar
CLIC6_chr21_34663994_34723223	34670163	GGCGTAGA others(23): Show GGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00408.hp1 HG00438.hp2 others(77): Show HG00140.hp2 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp2 HG02004.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18939.hp1 NA18954.hp1 NA18960.hp1 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp2 NA19063.hp2 NA19065.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp2	a0002 a0009 a0010 others(4): Show a0002 a0009 a0010 a0011 a0012 a0013 a0014	a0002c0002 a0002c0004 a0002c0009 others(7): Show a0002c0002 a0002c0004 a0002c0009 a0002c0024 a0009c0025 a0010c0023 a0011c0022 a0012c0015 a0013c0021 a0014c0020	a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 others(26): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0010 a0002c0002t0015 a0002c0002t0018 a0002c0002t0022 a0002c0002t0026 a0002c0002t0036 a0002c0002t0038 a0002c0002t0039 a0002c0002t0040 a0002c0002t0042 a0002c0002t0043 a0002c0002t0061 a0002c0004t0003 a0002c0004t0008 a0002c0004t0010 a0002c0004t0023 a0002c0004t0024 a0002c0009t0030 a0002c0009t0058 a0002c0024t0037 a0009c0025t0003 a0010c0023t0018 a0011c0022t0041 a0012c0015t0052 a0013c0021t0003 a0014c0020t0003	a0002c0002t0003g0007 a0002c0002t0003g0020 a0002c0002t0003g0227 others(72): Show a0002c0002t0003g0007 a0002c0002t0003g0020 a0002c0002t0003g0227 a0002c0002t0003g0228 a0002c0002t0003g0234 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0252 a0002c0002t0003g0264 a0002c0002t0003g0273 a0002c0002t0004g0003 a0002c0002t0004g0219 a0002c0002t0004g0225 a0002c0002t0004g0233 a0002c0002t0004g0236 a0002c0002t0004g0238 a0002c0002t0004g0241 a0002c0002t0004g0244 a0002c0002t0004g0246 a0002c0002t0004g0251 a0002c0002t0004g0265 a0002c0002t0004g0266 a0002c0002t0004g0268 a0002c0002t0004g0269 a0002c0002t0004g0270 a0002c0002t0004g0271 a0002c0002t0008g0255 a0002c0002t0008g0258 a0002c0002t0008g0259 a0002c0002t0008g0261 a0002c0002t0008g0262 a0002c0002t0008g0275 a0002c0002t0008g0276 a0002c0002t0008g0277 a0002c0002t0008g0278 a0002c0002t0010g0253 a0002c0002t0015g0007 a0002c0002t0015g0229 a0002c0002t0015g0237 a0002c0002t0015g0239 a0002c0002t0018g0216 a0002c0002t0018g0272 a0002c0002t0022g0254 a0002c0002t0022g0256 a0002c0002t0026g0215 a0002c0002t0036g0007 a0002c0002t0038g0250 a0002c0002t0039g0245 a0002c0002t0040g0260 a0002c0002t0042g0232 a0002c0002t0043g0003 a0002c0002t0061g0218 a0002c0004t0003g0221 a0002c0004t0003g0223 a0002c0004t0003g0224 a0002c0004t0003g0263 a0002c0004t0008g0018 a0002c0004t0010g0220 a0002c0004t0010g0226 a0002c0004t0010g0247 a0002c0004t0023g0019 a0002c0004t0024g0235 a0002c0004t0024g0274 a0002c0009t0030g0212 a0002c0009t0030g0213 a0002c0009t0058g0211 a0002c0024t0037g0281 a0009c0025t0003g0217 a0010c0023t0018g0222 a0011c0022t0041g0267 a0012c0015t0052g0214 a0013c0021t0003g0257 a0014c0020t0003g0240	80	312	0.2564	-30	c.786 others(37): Show c.786_815delGGGGGTCCCGGCGGGGGACAGCGTAGAAGC	p.Gly others(13): Show p.Gly263_Ala272del	CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding	1/6	1181/4197	786/2061	262/686	INFO_REALIGN_3_PRIME	chr21	TogoVar
CLSTN2_chr3_139930185_140582397	140566154	AGAGGAG AGAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp2 HG02572.hp2 HG02615.hp2 others(1): Show HG02109.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2	a0003 a0004 a0003 a0004	a0003c0012 a0004c0013 a0003c0012 a0004c0013	a0003c0012t0008 a0004c0013t0008 a0003c0012t0008 a0004c0013t0008	a0003c0012t0008g0014 a0003c0012t0008g0041 a0004c0013t0008g0099 others(1): Show a0003c0012t0008g0014 a0003c0012t0008g0041 a0004c0013t0008g0099 a0004c0013t0008g0106	4	110	0.0364	-6	c.278 others(15): Show c.2781_2786delGGAGGA	p.Glu others(13): Show p.Glu928_Glu929del	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	17/17	2971/14202	2781/2868	927/955	INFO_REALIGN_3_PRIME	chr3	TogoVar
CNGB1_chr16_57877340_57976128	57920517	GGCCGTGG others(5): Show GGCCGTGGAGGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03239.hp1 HG03239.hp1	a0042 a0042	a0042c0057 a0042c0057	a0042c0057t0002 a0042c0057t0002	a0042c0057t0002g0147 a0042c0057t0002g0147	1	360	0.0028	-12	c.165 others(21): Show c.1659_1670delGGCCTCCACGGC	p.Ala others(13): Show p.Ala554_Ala557del	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	19/33	1747/5657	1659/3756	553/1251		chr16	TogoVar
CNPY2_chr12_56304844_56320988	56315173	CAGCAGGG others(8): Show CAGCAGGGCCCCCAGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0021	1	372	0.0027	-15	c.30_ others(20): Show c.30_44delTCTGGGGGCCCTGCT	p.Leu others(11): Show p.Leu11_Leu15del	CNPY2	ENSG00000257727.6	transcript	ENST00000273308.9	protein_coding	2/6	237/1450	30/549	10/182		chr12	TogoVar
CNPY3_chr6_42924480_42944294	42929619	TTGCTGCT others(5): Show TTGCTGCTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18961.hp1 NA19062.hp1 NA18961.hp1 NA19062.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0002 a0003c0003t0002g0002	2	408	0.0049	-12	c.65_ others(17): Show c.65_76delTGCTGCTGCTGC	p.Leu others(11): Show p.Leu22_Leu25del	CNPY3	ENSG00000137161.18	transcript	ENST00000372836.5	protein_coding	1/6	156/1431	65/837	22/278	INFO_REALIGN_3_PRIME	chr6	TogoVar
CNPY4_chr7_100114634_100130508	100124796	CAGGAGG CAGGAGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02257.hp2 HG02615.hp2 others(8): Show HG01891.hp2 HG02257.hp2 HG02615.hp2 HG02630.hp2 HG02818.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0063 a0002c0002t0001g0064 others(6): Show a0002c0002t0001g0032 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070	11	416	0.0264	-6	c.666 others(13): Show c.666_671delGGAGGA	p.Glu others(13): Show p.Glu223_Glu224del	CNPY4	ENSG00000166997.8	transcript	ENST00000262932.5	protein_coding	6/6	777/1478	666/747	222/248	INFO_REALIGN_3_PRIME	chr7	TogoVar
COBL_chr7_51011212_51321809	51030870	GTCT GTCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(101): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00597.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01433.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18943.hp2 NA18945.hp1 NA18949.hp2 NA18951.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18995.hp2 NA19002.hp2 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0002 a0004 a0005 others(8): Show a0002 a0004 a0005 a0006 a0007 a0010 a0015 a0021 a0022 a0023 a0024	a0002c0003 a0002c0007 a0002c0019 others(28): Show a0002c0003 a0002c0007 a0002c0019 a0002c0026 a0002c0028 a0002c0049 a0002c0050 a0002c0065 a0004c0009 a0004c0010 a0004c0025 a0004c0037 a0004c0046 a0004c0063 a0005c0005 a0005c0006 a0006c0008 a0006c0029 a0006c0032 a0006c0062 a0007c0018 a0007c0020 a0007c0052 a0010c0030 a0010c0034 a0010c0064 a0015c0027 a0021c0048 a0022c0047 a0023c0033 a0024c0066	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(44): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0007t0001 a0002c0019t0001 a0002c0019t0002 a0002c0026t0001 a0002c0028t0001 a0002c0049t0001 a0002c0050t0002 a0002c0065t0001 a0004c0009t0001 a0004c0009t0002 a0004c0009t0005 a0004c0010t0001 a0004c0010t0002 a0004c0010t0005 a0004c0010t0007 a0004c0010t0012 a0004c0025t0002 a0004c0037t0001 a0004c0046t0001 a0004c0063t0001 a0005c0005t0001 a0005c0005t0003 a0005c0005t0008 a0005c0006t0002 a0005c0006t0003 a0006c0008t0002 a0006c0008t0004 a0006c0029t0003 a0006c0032t0004 a0006c0062t0004 a0007c0018t0001 a0007c0018t0003 a0007c0020t0001 a0007c0020t0003 a0007c0052t0001 a0010c0030t0001 a0010c0030t0005 a0010c0034t0005 a0010c0064t0011 a0015c0027t0009 a0021c0048t0001 a0022c0047t0001 a0023c0033t0001 a0024c0066t0003	a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0004 others(101): Show a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0023 a0002c0003t0001g0047 a0002c0003t0001g0067 a0002c0003t0001g0083 a0002c0003t0001g0088 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0098 a0002c0003t0001g0100 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0124 a0002c0003t0001g0157 a0002c0003t0001g0190 a0002c0003t0001g0192 a0002c0003t0002g0226 a0002c0003t0003g0093 a0002c0003t0003g0094 a0002c0003t0003g0097 a0002c0007t0001g0107 a0002c0007t0001g0172 a0002c0007t0001g0174 a0002c0007t0001g0176 a0002c0007t0001g0177 a0002c0007t0001g0178 a0002c0007t0001g0179 a0002c0019t0001g0031 a0002c0019t0001g0032 a0002c0019t0002g0120 a0002c0026t0001g0209 a0002c0026t0001g0211 a0002c0028t0001g0007 a0002c0028t0001g0128 a0002c0049t0001g0046 a0002c0050t0002g0116 a0002c0065t0001g0059 a0004c0009t0001g0005 a0004c0009t0001g0014 a0004c0009t0001g0017 a0004c0009t0001g0055 a0004c0009t0002g0057 a0004c0009t0002g0074 a0004c0009t0005g0222 a0004c0010t0001g0089 a0004c0010t0001g0129 a0004c0010t0002g0073 a0004c0010t0005g0164 a0004c0010t0007g0011 a0004c0010t0012g0115 a0004c0025t0002g0015 a0004c0025t0002g0096 a0004c0037t0001g0175 a0004c0046t0001g0048 a0004c0063t0001g0020 a0005c0005t0001g0084 a0005c0005t0001g0085 a0005c0005t0003g0087 a0005c0005t0003g0101 a0005c0005t0003g0117 a0005c0005t0003g0134 a0005c0005t0003g0150 a0005c0005t0003g0161 a0005c0005t0003g0204 a0005c0005t0008g0167 a0005c0006t0002g0040 a0005c0006t0003g0035 a0005c0006t0003g0036 a0005c0006t0003g0038 a0005c0006t0003g0050 a0005c0006t0003g0121 a0005c0006t0003g0184 a0005c0006t0003g0196 a0006c0008t0002g0163 a0006c0008t0004g0102 a0006c0008t0004g0103 a0006c0008t0004g0104 a0006c0008t0004g0105 a0006c0008t0004g0106 a0006c0008t0004g0108 a0006c0029t0003g0053 a0006c0029t0003g0170 a0006c0032t0004g0065 a0006c0062t0004g0006 a0007c0018t0001g0185 a0007c0018t0003g0144 a0007c0018t0003g0171 a0007c0020t0001g0168 a0007c0020t0003g0033 a0007c0020t0003g0223 a0007c0052t0001g0072 a0010c0030t0001g0114 a0010c0030t0005g0052 a0010c0034t0005g0182 a0010c0064t0011g0062 a0015c0027t0009g0075 a0015c0027t0009g0165 a0021c0048t0001g0086 a0022c0047t0001g0217 a0023c0033t0001g0064 a0024c0066t0003g0051	104	230	0.4522	-3	c.144 others(12): Show c.1443_1445delAGA	p.Glu others(6): Show p.Glu481del	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	9/13	1621/5301	1443/3786	481/1261		chr7	TogoVar
COL17A1_chr10_104026286_104090880	104043511	TGGAGGTC others(20): Show TGGAGGTCCTGGGGGTCCCATGGCTCCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02602.hp1 HG02602.hp1	a0021 a0021	a0021c0051 a0021c0051	a0021c0051t0003 a0021c0051t0003	a0021c0051t0003g0069 a0021c0051t0003g0069	1	336	0.0030	-27	c.247 others(36): Show c.2478_2504delTGGAGCCATGGGACCCCCAGGACCTCC	p.Gly others(13): Show p.Gly827_Pro835del	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	35/56	2673/5612	2478/4494	826/1497		chr10	TogoVar
COL18A1_chr21_45400165_45518720	45504502	CGGCCCCC others(11): Show CGGCCCCCCCGGCCCCCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02257.hp1 HG02922.hp2 HG02257.hp1 HG02922.hp2	a0026 a0027 a0026 a0027	a0026c0044 a0027c0070 a0026c0044 a0027c0070	a0026c0044t0001 a0027c0070t0001 a0026c0044t0001 a0027c0070t0001	a0026c0044t0001g0037 a0027c0070t0001g0012 a0026c0044t0001g0037 a0027c0070t0001g0012	2	292	0.0069	-18	c.282 others(27): Show c.2823_2840delCGGCCCCCCAGGCCCCCC	p.Gly others(13): Show p.Gly942_Pro947del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	34/42	2889/5408	2823/4020	941/1339	INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45504511	CGGCCCCC others(2): Show CGGCCCCCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(279): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.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 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 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.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.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 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 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(28): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0028 a0029 a0030 a0031 a0033 a0034 a0035 a0036 a0037	a0001c0001 a0001c0002 a0001c0003 others(92): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0001c0017 a0001c0019 a0001c0022 a0001c0024 a0001c0025 a0001c0027 a0001c0030 a0001c0032 a0001c0033 a0001c0035 a0001c0037 a0001c0038 a0001c0041 a0001c0053 a0001c0054 a0001c0055 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0069 a0001c0073 a0001c0074 a0001c0079 a0001c0080 a0001c0081 a0001c0082 a0001c0087 a0001c0089 a0001c0090 a0001c0093 a0001c0098 a0002c0012 a0002c0020 a0002c0021 a0002c0067 a0002c0083 a0002c0084 a0002c0103 a0003c0009 a0003c0010 a0003c0015 a0003c0045 a0003c0046 a0003c0047 a0004c0023 a0004c0057 a0004c0091 a0004c0099 a0004c0100 a0006c0026 a0006c0028 a0006c0072 a0007c0031 a0007c0034 a0007c0076 a0008c0018 a0008c0101 a0009c0016 a0010c0014 a0011c0040 a0011c0104 a0012c0065 a0012c0088 a0013c0051 a0013c0102 a0014c0039 a0015c0029 a0016c0042 a0017c0043 a0018c0095 a0019c0096 a0021c0086 a0022c0068 a0023c0085 a0024c0066 a0028c0097 a0029c0071 a0030c0056 a0031c0092 a0033c0077 a0034c0075 a0035c0078 a0036c0048 a0037c0049	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(112): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0012 a0001c0002t0017 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0004t0001 a0001c0004t0016 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0005t0007 a0001c0006t0003 a0001c0007t0002 a0001c0008t0002 a0001c0011t0001 a0001c0013t0002 a0001c0013t0014 a0001c0017t0002 a0001c0017t0003 a0001c0019t0003 a0001c0022t0001 a0001c0024t0001 a0001c0025t0002 a0001c0027t0001 a0001c0030t0002 a0001c0032t0001 a0001c0033t0002 a0001c0035t0001 a0001c0037t0001 a0001c0038t0004 a0001c0041t0001 a0001c0053t0001 a0001c0054t0002 a0001c0055t0003 a0001c0061t0001 a0001c0062t0002 a0001c0063t0001 a0001c0064t0001 a0001c0069t0005 a0001c0073t0003 a0001c0074t0004 a0001c0079t0001 a0001c0080t0004 a0001c0081t0003 a0001c0082t0008 a0001c0087t0001 a0001c0089t0001 a0001c0090t0002 a0001c0093t0001 a0001c0098t0001 a0002c0012t0004 a0002c0020t0001 a0002c0020t0003 a0002c0021t0002 a0002c0067t0001 a0002c0083t0001 a0002c0084t0002 a0002c0103t0001 a0003c0009t0001 a0003c0010t0002 a0003c0010t0006 a0003c0015t0001 a0003c0045t0006 a0003c0046t0001 a0003c0047t0001 a0004c0023t0002 a0004c0057t0002 a0004c0091t0001 a0004c0099t0003 a0004c0100t0001 a0006c0026t0001 a0006c0026t0003 a0006c0028t0003 a0006c0072t0002 a0007c0031t0002 a0007c0034t0001 a0007c0076t0002 a0008c0018t0005 a0008c0101t0005 a0009c0016t0001 a0009c0016t0002 a0010c0014t0001 a0011c0040t0001 a0011c0104t0002 a0012c0065t0002 a0012c0088t0002 a0013c0051t0001 a0013c0102t0004 a0014c0039t0009 a0015c0029t0003 a0016c0042t0001 a0017c0043t0002 a0018c0095t0001 a0019c0096t0015 a0021c0086t0002 a0022c0068t0010 a0023c0085t0002 a0024c0066t0010 a0028c0097t0001 a0029c0071t0002 a0030c0056t0001 a0031c0092t0011 a0033c0077t0003 a0034c0075t0001 a0035c0078t0001 a0036c0048t0004 a0037c0049t0004	a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 others(279): Show a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0002g0278 a0001c0001t0004g0129 a0001c0001t0004g0223 a0001c0001t0013g0276 a0001c0002t0001g0024 a0001c0002t0001g0080 a0001c0002t0001g0095 a0001c0002t0002g0023 a0001c0002t0002g0047 a0001c0002t0002g0060 a0001c0002t0002g0074 a0001c0002t0002g0088 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0111 a0001c0002t0002g0114 a0001c0002t0002g0117 a0001c0002t0002g0133 a0001c0002t0002g0137 a0001c0002t0002g0140 a0001c0002t0002g0178 a0001c0002t0002g0188 a0001c0002t0002g0231 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0238 a0001c0002t0002g0269 a0001c0002t0002g0283 a0001c0002t0003g0143 a0001c0002t0006g0233 a0001c0002t0012g0109 a0001c0002t0017g0216 a0001c0003t0001g0005 a0001c0003t0001g0043 a0001c0003t0001g0048 a0001c0003t0001g0081 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0003t0001g0145 a0001c0003t0001g0153 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0193 a0001c0003t0001g0221 a0001c0003t0001g0249 a0001c0003t0001g0254 a0001c0003t0001g0261 a0001c0003t0001g0287 a0001c0003t0001g0289 a0001c0003t0003g0264 a0001c0003t0008g0166 a0001c0004t0001g0013 a0001c0004t0001g0018 a0001c0004t0001g0022 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0001g0064 a0001c0004t0001g0071 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0112 a0001c0004t0001g0174 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0222 a0001c0004t0001g0225 a0001c0004t0001g0255 a0001c0004t0001g0267 a0001c0004t0001g0271 a0001c0004t0001g0274 a0001c0004t0001g0290 a0001c0004t0016g0051 a0001c0005t0002g0070 a0001c0005t0002g0158 a0001c0005t0002g0217 a0001c0005t0002g0224 a0001c0005t0002g0232 a0001c0005t0002g0239 a0001c0005t0002g0280 a0001c0005t0003g0211 a0001c0005t0006g0173 a0001c0005t0006g0218 a0001c0005t0007g0262 a0001c0005t0007g0263 a0001c0006t0003g0079 a0001c0006t0003g0177 a0001c0006t0003g0180 a0001c0006t0003g0204 a0001c0006t0003g0215 a0001c0006t0003g0259 a0001c0006t0003g0291 a0001c0007t0002g0078 a0001c0007t0002g0161 a0001c0007t0002g0185 a0001c0007t0002g0194 a0001c0007t0002g0208 a0001c0007t0002g0220 a0001c0008t0002g0240 a0001c0008t0002g0260 a0001c0008t0002g0268 a0001c0008t0002g0270 a0001c0008t0002g0272 a0001c0011t0001g0009 a0001c0011t0001g0016 a0001c0011t0001g0017 a0001c0011t0001g0050 a0001c0013t0002g0122 a0001c0013t0002g0206 a0001c0013t0002g0207 a0001c0013t0014g0210 a0001c0017t0002g0179 a0001c0017t0003g0205 a0001c0017t0003g0284 a0001c0019t0003g0065 a0001c0019t0003g0139 a0001c0019t0003g0170 a0001c0022t0001g0008 a0001c0022t0001g0021 a0001c0022t0001g0131 a0001c0024t0001g0229 a0001c0024t0001g0256 a0001c0025t0002g0159 a0001c0025t0002g0164 a0001c0027t0001g0019 a0001c0027t0001g0020 a0001c0030t0002g0285 a0001c0030t0002g0286 a0001c0032t0001g0147 a0001c0032t0001g0162 a0001c0033t0002g0100 a0001c0033t0002g0169 a0001c0035t0001g0072 a0001c0035t0001g0073 a0001c0037t0001g0062 a0001c0037t0001g0157 a0001c0038t0004g0028 a0001c0038t0004g0029 a0001c0041t0001g0155 a0001c0053t0001g0244 a0001c0054t0002g0201 a0001c0055t0003g0152 a0001c0061t0001g0257 a0001c0062t0002g0097 a0001c0063t0001g0144 a0001c0064t0001g0061 a0001c0069t0005g0038 a0001c0073t0003g0034 a0001c0074t0004g0200 a0001c0079t0001g0042 a0001c0080t0004g0057 a0001c0081t0003g0154 a0001c0082t0008g0053 a0001c0087t0001g0055 a0001c0089t0001g0119 a0001c0090t0002g0089 a0001c0093t0001g0251 a0001c0098t0001g0007 a0002c0012t0004g0040 a0002c0012t0004g0049 a0002c0012t0004g0058 a0002c0012t0004g0199 a0002c0020t0001g0010 a0002c0020t0001g0011 a0002c0020t0003g0156 a0002c0021t0002g0001 a0002c0021t0002g0148 a0002c0021t0002g0186 a0002c0067t0001g0041 a0002c0083t0001g0237 a0002c0084t0002g0212 a0002c0103t0001g0136 a0003c0009t0001g0054 a0003c0009t0001g0167 a0003c0009t0001g0171 a0003c0009t0001g0247 a0003c0010t0002g0068 a0003c0010t0002g0151 a0003c0010t0002g0172 a0003c0010t0006g0014 a0003c0015t0001g0168 a0003c0015t0001g0189 a0003c0015t0001g0202 a0003c0045t0006g0242 a0003c0046t0001g0002 a0003c0047t0001g0069 a0004c0023t0002g0138 a0004c0023t0002g0163 a0004c0057t0002g0035 a0004c0091t0001g0056 a0004c0099t0003g0030 a0004c0100t0001g0039 a0006c0026t0001g0083 a0006c0026t0003g0219 a0006c0028t0003g0059 a0006c0028t0003g0230 a0006c0072t0002g0082 a0007c0031t0002g0123 a0007c0031t0002g0160 a0007c0034t0001g0141 a0007c0034t0001g0282 a0007c0076t0002g0281 a0008c0018t0005g0067 a0008c0018t0005g0130 a0008c0018t0005g0132 a0008c0101t0005g0027 a0009c0016t0001g0084 a0009c0016t0001g0209 a0009c0016t0002g0252 a0010c0014t0001g0265 a0010c0014t0001g0275 a0010c0014t0001g0279 a0011c0040t0001g0046 a0011c0040t0001g0076 a0011c0104t0002g0003 a0012c0065t0002g0096 a0012c0088t0002g0006 a0013c0051t0001g0195 a0013c0102t0004g0196 a0014c0039t0009g0197 a0014c0039t0009g0198 a0015c0029t0003g0226 a0015c0029t0003g0227 a0016c0042t0001g0118 a0017c0043t0002g0015 a0018c0095t0001g0146 a0019c0096t0015g0045 a0021c0086t0002g0176 a0022c0068t0010g0004 a0023c0085t0002g0106 a0024c0066t0010g0066 a0028c0097t0001g0036 a0029c0071t0002g0134 a0030c0056t0001g0044 a0031c0092t0011g0190 a0033c0077t0003g0098 a0034c0075t0001g0116 a0035c0078t0001g0115 a0036c0048t0004g0184 a0037c0049t0004g0183	282	292	0.9658	-9	c.283 others(18): Show c.2838_2846delCCCAGGCCC	p.Pro others(13): Show p.Pro947_Pro949del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	34/42	2904/5408	2838/4020	946/1339	INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45504511	CGGCCCCC others(11): Show CGGCCCCCCAGGCCCCCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG02717.hp1 HG00140.hp2 HG02717.hp1	a0020 a0032 a0020 a0032	a0020c0094 a0032c0052 a0020c0094 a0032c0052	a0020c0094t0011 a0032c0052t0002 a0020c0094t0011 a0032c0052t0002	a0020c0094t0011g0075 a0032c0052t0002g0077 a0020c0094t0011g0075 a0032c0052t0002g0077	2	292	0.0069	-18	c.282 others(27): Show c.2829_2846delCCCAGGCCCCCCAGGCCC	p.Pro others(13): Show p.Pro944_Pro949del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	34/42	2895/5408	2829/4020	943/1339	INFO_REALIGN_3_PRIME	chr21	TogoVar
COL2A1_chr12_47967967_48009476	47978636	GGGTCCAG others(5): Show GGGTCCAGCAGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18992.hp1 NA18992.hp1	a0015 a0015	a0015c0033 a0015c0033	a0015c0033t0002 a0015c0033t0002	a0015c0033t0002g0082 a0015c0033t0002g0082	1	414	0.0024	-12	c.284 others(21): Show c.2844_2855delTCCTGCTGGACC	p.Pro others(13): Show p.Pro949_Pro952del	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding	42/54	3010/5059	2844/4464	948/1487		chr12	TogoVar
COL6A3_chr2_237319018_237419164	237336220	TGCA TGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00438.hp2 HG01243.hp2 others(6): Show HG00140.hp2 HG00438.hp2 HG01243.hp2 HG01433.hp1 HG02451.hp2 NA18942.hp2 NA18983.hp2 NA19063.hp2 homoSapiens_chm13v2.hp1	a0007 a0063 a0068 a0007 a0063 a0068	a0007c0011 a0007c0030 a0063c0057 others(1): Show a0007c0011 a0007c0030 a0063c0057 a0068c0049	a0007c0011t0001 a0007c0030t0001 a0063c0057t0002 others(1): Show a0007c0011t0001 a0007c0030t0001 a0063c0057t0002 a0068c0049t0002	a0007c0011t0001g0003 a0007c0011t0001g0291 a0007c0011t0001g0292 others(5): Show a0007c0011t0001g0003 a0007c0011t0001g0291 a0007c0011t0001g0292 a0007c0011t0001g0309 a0007c0030t0001g0048 a0007c0030t0001g0245 a0063c0057t0002g0056 a0068c0049t0002g0279	9	322	0.0280	-3	c.887 others(12): Show c.8877_8879delTGC	p.Ala others(7): Show p.Ala2960del	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	40/44	9121/10532	8877/9534	2959/3177		chr2	TogoVar
COL8A1_chr3_99633594_99804217	99795590	CCCTCCAG others(2): Show CCCTCCAGGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show HG02109.hp1 HG02630.hp2 HG03139.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0031 a0001c0002t0010 a0001c0002t0031	a0001c0002t0010g0039 a0001c0002t0010g0040 a0001c0002t0010g0041 others(2): Show a0001c0002t0010g0039 a0001c0002t0010g0040 a0001c0002t0010g0041 a0001c0002t0010g0042 a0001c0002t0031g0199	5	262	0.0191	-9	c.170 others(18): Show c.1701_1709delTCCAGGACC	p.Pro others(13): Show p.Pro568_Pro570del	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	4/4	1900/5515	1701/2235	567/744	INFO_REALIGN_3_PRIME	chr3	TogoVar

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