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	distance	status	chr	external
COL13A1_chr10_69796906_69964144	69893036	GTGCTGCA others(20): Show GTGCTGCAGAACTTCATTCTAAGCACTC	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	324	0.0031	-27	c.604 others(44): Show c.604-1512_604-1486delTGCAGAACTTCATTCTAAGCACTCTGC		COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	10/40					INFO_REALIGN_3_PRIME	chr10	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
COL17A1_chr10_104026286_104090880	104057110	CGCCACCA others(20): Show CGCCACCAACACCGCCACCTCCTCCACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp1 HG02896.hp1 HG03041.hp1 others(1): Show HG01884.hp1 HG02896.hp1 HG03041.hp1 HG03516.hp1	a0010 a0010	a0010c0021 a0010c0028 a0010c0029 a0010c0021 a0010c0028 a0010c0029	a0010c0021t0001 a0010c0028t0001 a0010c0029t0004 a0010c0021t0001 a0010c0028t0001 a0010c0029t0004	a0010c0021t0001g0251 a0010c0021t0001g0252 a0010c0028t0001g0254 others(1): Show a0010c0021t0001g0251 a0010c0021t0001g0252 a0010c0028t0001g0254 a0010c0029t0004g0253	4	336	0.0119	-27	c.130 others(36): Show c.1303_1329delAGTGGAGGAGGTGGCGGTGTTGGTGGC	p.Ser others(13): Show p.Ser435_Gly443del	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	17/56	1498/5612	1303/4494	435/1497			chr10	TogoVar
COL18A1_chr21_45400165_45518720	45508080	ACAGGTGG others(20): Show ACAGGTGGGTGAGTGGATGGATGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03942.hp1 HG00639.hp2 HG03942.hp1	a0012 a0023 a0012 a0023	a0012c0065 a0023c0085 a0012c0065 a0023c0085	a0012c0065t0002 a0023c0085t0002 a0012c0065t0002 a0023c0085t0002	a0012c0065t0002g0096 a0023c0085t0002g0106 a0012c0065t0002g0096 a0023c0085t0002g0106	2	292	0.0069	-27	c.324 others(44): Show c.3249+492_3249+518delTGGGTGAGTGGATGGATGGTGGTCAGG		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	38/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69935314	GACAGGTT others(20): Show GACAGGTTTATGGTGAAGCCTGAGACAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19043.hp2 HG01884.hp1 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0003 a0001c0008t0004 a0001c0005t0003 a0001c0008t0004	a0001c0005t0003g0003 a0001c0008t0004g0004 a0001c0005t0003g0003 a0001c0008t0004g0004	2	182	0.0110	-27	c.748 others(44): Show c.748-1468_748-1442delAGGTTTATGGTGAAGCCTGAGACATAC		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	7/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	70016381	AAAACACA others(20): Show AAAACACATGAAAAAAAAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp1 HG03139.hp2 others(1): Show HG02258.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0006 a0002c0004 a0002c0006	a0002c0004t0001 a0002c0006t0003 a0002c0004t0001 a0002c0006t0003	a0002c0004t0001g0116 a0002c0004t0001g0117 a0002c0006t0003g0162 others(1): Show a0002c0004t0001g0116 a0002c0004t0001g0117 a0002c0006t0003g0162 a0002c0006t0003g0163	4	182	0.0220	-27	c.102 others(46): Show c.1027-7242_1027-7216delCACATGAAAAAAAAAAAACAAAACAA A		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	11/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
COL20A1_chr20_63288186_63339806	63297439	ACCCAGCC others(20): Show ACCCAGCCCGGGGACTCAGCCCAGGGGC	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	290	0.0035	-27	c.83- others(40): Show c.83-464_83-438delCCGGGGACTCAGCCCAGGGGCCCCAGC		COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr20	TogoVar
COL22A1_chr8_138583235_138919041	138744781	CCCTTCTC others(20): Show CCCTTCTCTTAGCTATACATCTATAAAG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0156 a0001c0002t0007g0156	1	158	0.0063	-27	c.208 others(46): Show c.2085+6650_2085+6676delCTTTATAGATGTATAGCTAAGAGAAG G		COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	22/64						chr8	TogoVar
COL3A1_chr2_188969373_189017746	188993484	TAAGCATA others(20): Show TAAGCATAGTTTCATGCTTACTCCATGA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02717.hp2 others(8): Show HG02109.hp1 HG02630.hp2 HG02717.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0017 a0001c0001 a0013c0017	a0001c0001t0001 a0013c0017t0001 a0001c0001t0001 a0013c0017t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 others(8): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0013c0017t0001g0102	11	376	0.0293	-27	c.114 others(42): Show c.1149+59_1149+85delAGTTTCATGCTTACTCCATGAAAGCAT		COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	16/50					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A1_chr13_110143963_110312157	110238690	TTTGGACA others(20): Show TTTGGACACTGCAGGGTCACAGACTATG	T T	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	344	0.0029	-27	c.144 others(44): Show c.144+3958_144+3984delCATAGTCTGTGACCCTGCAGTGTCCAA		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51						chr13	TogoVar
COL4A5_chrX_108434838_108702545	108526648	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTCTTTCTTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03486.hp2 HG02970.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0248 a0002c0002t0001g0068 a0001c0001t0001g0248 a0002c0002t0001g0068	2	269	0.0074	-27	c.82- others(44): Show c.82-13096_82-13070delTTCTTTCTTTCTTCTTTCTTTCTCTTT		COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52					INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526656	CTTTCTTC others(20): Show CTTTCTTCTTTCTTTCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	269	0.0037	-27	c.82- others(44): Show c.82-13088_82-13062delTTCTTCTTTCTTTCTCTTTCTTTCTTT		COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52					INFO_REALIGN_3_PRIME	chrX	TogoVar
COL5A2_chr2_189026898_189184761	189035475	TATAATAA others(20): Show TATAATAAAAATTAGAATTAACTAGTAG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0143 a0001c0002t0009g0143	1	248	0.0040	-27	c.411 others(44): Show c.4114-347_4114-321delCTACTAGTTAATTCTAATTTTTATTAT		COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	52/53						chr2	TogoVar
COL6A1_chr21_45976770_46010048	45977832	GGAGGGGG others(20): Show GGAGGGGGAGAGAGGAGGGAGGGGGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0002 a0013c0020t0002	a0013c0020t0002g0002 a0013c0020t0002g0002	1	128	0.0078	-27	c.-40 others(38): Show c.-4018_-3992delGAGGGGGAGAGAGGAGGGAGGGGGAGA		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					3937		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46120635	GCTGCACC others(20): Show GCTGCACCCCAAGGTAGGGTGGCCGGGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG06807.hp2 HG02615.hp1 HG06807.hp2	a0003 a0003	a0003c0004 a0003c0007 a0003c0004 a0003c0007	a0003c0004t0003 a0003c0007t0003 a0003c0004t0003 a0003c0007t0003	a0003c0004t0003g0194 a0003c0007t0003g0235 a0003c0004t0003g0194 a0003c0007t0003g0235	2	372	0.0054	-27	c.139 others(43): Show c.1395+77_1395+103delTGGCCGGGACTGCACCCCAAGGTAGGG		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	16/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46124202	GTGGGTGG others(20): Show GTGGGTGGCTGGGTGGATGGATGATGGA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	372	0.0027	-27	c.167 others(44): Show c.1672-442_1672-416delGCTGGGTGGATGGATGATGGATGGGTG		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46120635	GCTGCACC others(20): Show GCTGCACCCCAAGGTAGGGTGGCCGGGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG06807.hp2 HG02615.hp1 HG06807.hp2	a0003 a0003	a0003c0010 a0003c0016 a0003c0010 a0003c0016	a0003c0010t0001 a0003c0016t0001 a0003c0010t0001 a0003c0016t0001	a0003c0010t0001g0190 a0003c0016t0001g0231 a0003c0010t0001g0190 a0003c0016t0001g0231	2	364	0.0055	-27	c.139 others(43): Show c.1395+77_1395+103delTGGCCGGGACTGCACCCCAAGGTAGGG		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	16/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46124202	GTGGGTGG others(20): Show GTGGGTGGCTGGGTGGATGGATGATGGA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0188 a0001c0006t0001g0188	1	364	0.0028	-27	c.167 others(44): Show c.1672-442_1672-416delGCTGGGTGGATGGATGATGGATGGGTG		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp1 HG01261.hp2 others(2): Show HG00609.hp1 HG00741.hp1 HG01261.hp2 HG01884.hp2 HG02818.hp1	a0002 a0008 a0053 others(1): Show a0002 a0008 a0053 a0060	a0002c0001 a0008c0010 a0053c0073 others(1): Show a0002c0001 a0008c0010 a0053c0073 a0060c0054	a0002c0001t0001 a0008c0010t0001 a0053c0073t0008 others(1): Show a0002c0001t0001 a0008c0010t0001 a0053c0073t0008 a0060c0054t0004	a0002c0001t0001g0254 a0002c0001t0001g0258 a0008c0010t0001g0293 others(2): Show a0002c0001t0001g0254 a0002c0001t0001g0258 a0008c0010t0001g0293 a0053c0073t0008g0304 a0060c0054t0004g0167	5	322	0.0155	-27	c.766 others(44): Show c.7668+809_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTTT		COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43						chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362306	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp2 HG02258.hp2 HG02647.hp2	a0033 a0063 a0033 a0063	a0033c0029 a0063c0055 a0033c0029 a0063c0055	a0033c0029t0001 a0063c0055t0001 a0033c0029t0001 a0063c0055t0001	a0033c0029t0001g0117 a0063c0055t0001g0116 a0033c0029t0001g0117 a0063c0055t0001g0116	2	292	0.0069	-27	c.-28 others(46): Show c.-28-11303_-28-11277delATATATATATATATATATATTTTTTT T		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590281	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0024 a0024	a0024c0031 a0024c0031	a0024c0031t0003 a0024c0031t0003	a0024c0031t0003g0016 a0024c0031t0003g0016	1	264	0.0038	-27	c.421 others(44): Show c.4219-758_4219-732delATATATATATATATATATTTTTTTTTT		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COMMD10_chr5_116080025_116298287	116179062	TCCATAGG others(20): Show TCCATAGGTAAAATAGCTGAAAGAGAAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00621.hp2 others(59): Show HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG01346.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02630.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18967.hp1 NA18968.hp1 NA18981.hp1 NA18982.hp1 NA18989.hp2 NA18991.hp1 NA19001.hp1 NA19002.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19064.hp1 NA19080.hp2 NA19082.hp1 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0321 a0001c0001t0001g0333 a0002c0003t0001g0001 others(57): Show a0001c0001t0001g0321 a0001c0001t0001g0333 a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067	62	350	0.1771	-27	c.510 others(46): Show c.510+44886_510+44912delCATAGGTAAAATAGCTGAAAGAGAAC C		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD2_chr3_149733472_149757489	149750756	TTTTCTGT others(20): Show TTTTCTGTTGTCCAGATAAAGCTGAAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02738.hp1 HG02738.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0097 a0004c0005t0001g0097	1	424	0.0024	-27	c.297 others(34): Show c.297_323delGCTTCAGCTTTATCTGGACAACAGAAA	p.Leu others(13): Show p.Leu100_Lys108del	COMMD2	ENSG00000114744.9	transcript	ENST00000473414.6	protein_coding	4/5	368/3694	297/600	99/199			chr3	TogoVar
CORO2B_chr15_68573993_68732806	68650356	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02015.hp1 HG02040.hp1 others(14): Show HG01884.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp2 HG02155.hp2 HG03225.hp2 NA18947.hp2 NA18968.hp1 NA18975.hp2 NA18977.hp1 NA19002.hp2 NA19012.hp2 NA19057.hp1 NA19084.hp1 NA19090.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0024 a0001c0002t0003 a0001c0004t0007	a0001c0001t0001g0052 a0001c0001t0001g0100 a0001c0001t0001g0148 others(14): Show a0001c0001t0001g0052 a0001c0001t0001g0100 a0001c0001t0001g0148 a0001c0001t0001g0199 a0001c0001t0002g0176 a0001c0001t0002g0231 a0001c0001t0003g0179 a0001c0001t0004g0090 a0001c0001t0004g0205 a0001c0001t0004g0220 a0001c0001t0005g0206 a0001c0001t0007g0193 a0001c0001t0013g0253 a0001c0001t0024g0107 a0001c0002t0003g0101 a0001c0004t0007g0023 a0001c0004t0007g0127	17	256	0.0664	-27	c.216 others(44): Show c.216+5020_216+5046delAAAAAAAAAAAAAAAAAAAAAAAAAAA		CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
COTL1_chr16_84560596_84623078	84567070	AAATGGAA others(20): Show AAATGGAAATTCAGCAGCAGAGTCAGTC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02622.hp1 others(16): Show HG02055.hp1 HG02109.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp1 NA18522.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0113 a0001c0001t0001g0142 a0001c0001t0001g0218 others(16): Show a0001c0001t0001g0113 a0001c0001t0001g0142 a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0001g0242 a0001c0001t0001g0252 a0001c0001t0001g0314 a0001c0001t0005g0063 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0115 a0001c0001t0005g0134 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0240 a0001c0001t0005g0245 a0001c0001t0005g0422 a0001c0001t0005g0423 a0001c0001t0006g0370	19	440	0.0432	-27	c.319 others(42): Show c.319-142_319-116delGACTGACTCTGCTGCTGAATTTCCATT		COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	3/3						chr16	TogoVar
COX10_chr17_14064504_14213677	14197170	ATTGGTAG others(20): Show ATTGGTAGCTATAGAAAACACTGTGCAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0240 a0002c0002t0002g0240	1	322	0.0031	-27	c.928 others(44): Show c.928+4953_928+4979delGTAGCTATAGAAAACACTGTGCATTTG		COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
COX7B2_chr4_46729827_46914245	46759821	TAAGTCAT others(20): Show TAAGTCATATCTTATATAAGTTATATAA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	300	0.0033	-27	c.-49 others(46): Show c.-49-24607_-49-24581delTTATATAACTTATATAAGATATGACT T		COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2						chr4	TogoVar
CPA6_chr8_67417038_67751360	67475777	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0048 a0003c0003t0001g0048	1	144	0.0069	-27	c.838 others(44): Show c.838+7964_838+7990delAAAGAAAGAAAGAAAGAAAGAAAGAAA		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10						chr8	TogoVar
CPA6_chr8_67417038_67751360	67507998	TTTGTGTG others(20): Show TTTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	144	0.0069	-27	c.535 others(44): Show c.535-1137_535-1111delCACACACACACACACACACACACACAA		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	5/10						chr8	TogoVar
CPA6_chr8_67417038_67751360	67607169	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp2 HG02145.hp1 others(6): Show HG01175.hp2 HG02055.hp2 HG02145.hp1 HG03492.hp1 HG03540.hp2 HG03688.hp1 NA18968.hp1 NA19077.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0051 a0001c0001t0001g0089 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0051 a0001c0001t0001g0089 a0001c0001t0001g0091 a0002c0002t0001g0020 a0002c0002t0001g0063 a0002c0002t0001g0068 a0002c0002t0001g0073 a0002c0002t0001g0122	9	144	0.0625	-27	c.192 others(46): Show c.192+16980_192+17006delAGAAGAAGAAGAAGAAGAAGAAGAAG A		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10						chr8	TogoVar
CPEB4_chr5_173883349_173966980	173964589	GGGGTGGG others(20): Show GGGGTGGGGTGGGGTGAGGGTGGGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0042 a0001c0001t0011g0042	1	372	0.0027	-27	c.84 others(38): Show c.8453_*8479delGGGTGGGGTGGGGTGAGGGTGGGGTGA		CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding					2610		chr5	TogoVar
CPED1_chr7_120983711_121302442	121047646	TTTCTTCT others(20): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0079 a0005c0012t0001g0079	1	140	0.0071	-27	c.540 others(42): Show c.540+698_540+724delCTTCTTCTTCTTCTTCTTCTTCTTCTT		CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPNE7_chr16_89570758_89602246	89586046	AGGGAGGG others(20): Show AGGGAGGGGCAGGTGAGGGGGGCCTCTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00621.hp2 others(32): Show HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG01074.hp1 HG01346.hp2 HG01361.hp2 HG01928.hp2 HG01975.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02451.hp2 HG02602.hp1 HG02970.hp2 HG03486.hp2 HG03516.hp2 HG03704.hp2 HG03927.hp2 NA18942.hp1 NA18950.hp2 NA18966.hp2 NA18979.hp2 NA18980.hp1 NA18994.hp1 NA19000.hp2 NA19005.hp2 NA19010.hp1 NA19054.hp1 NA19057.hp2 NA19066.hp1 NA19084.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0004c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0005t0002 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0004t0002 a0002c0004t0014 a0004c0011t0001	a0001c0001t0001g0040 a0001c0001t0001g0091 a0001c0001t0001g0115 others(32): Show a0001c0001t0001g0040 a0001c0001t0001g0091 a0001c0001t0001g0115 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0252 a0001c0001t0001g0273 a0001c0001t0001g0318 a0001c0002t0001g0322 a0001c0002t0002g0316 a0001c0002t0002g0329 a0001c0002t0002g0337 a0001c0002t0003g0272 a0001c0002t0009g0328 a0001c0005t0002g0302 a0001c0005t0002g0303 a0001c0005t0002g0310 a0001c0005t0002g0317 a0001c0005t0002g0323 a0002c0003t0002g0312 a0002c0003t0003g0073 a0002c0003t0004g0306 a0002c0004t0002g0016 a0002c0004t0002g0279 a0002c0004t0002g0301 a0002c0004t0002g0304 a0002c0004t0002g0307 a0002c0004t0002g0308 a0002c0004t0002g0309 a0002c0004t0002g0311 a0002c0004t0002g0319 a0002c0004t0002g0324 a0002c0004t0002g0332 a0002c0004t0014g0305 a0004c0011t0001g0092	35	348	0.1006	-27	c.780 others(42): Show c.780+278_780+304delGGGGGCCTCTGGGGAGGGGCAGGTGAG		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587781	GCCCCCGT others(20): Show GCCCCCGTGTCACCCACAGATACACGGC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01346.hp1 HG02280.hp2 others(2): Show HG01106.hp2 HG01346.hp1 HG02280.hp2 NA18945.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0009t0001	a0001c0001t0001g0106 a0001c0002t0002g0084 a0001c0002t0003g0229 others(2): Show a0001c0001t0001g0106 a0001c0002t0002g0084 a0001c0002t0003g0229 a0001c0002t0004g0038 a0001c0009t0001g0013	5	348	0.0144	-27	c.927 others(42): Show c.927+694_927+720delACAGATACACGGCCCCCCGTGTCACCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587845	GCCCCCGT others(20): Show GCCCCCGTGTTACCCACAGATACACGGC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00741.hp1 HG02027.hp1 others(4): Show HG00597.hp2 HG00741.hp1 HG02027.hp1 HG02148.hp1 HG02717.hp2 NA19000.hp2 NA19057.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0002c0003t0003 a0003c0006t0003	a0001c0001t0001g0035 a0001c0001t0001g0096 a0001c0001t0001g0140 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0096 a0001c0001t0001g0140 a0001c0002t0001g0331 a0001c0002t0003g0272 a0002c0003t0003g0171 a0003c0006t0003g0146	7	348	0.0201	-27	c.927 others(42): Show c.927+753_927+779delTACCCACAGATACACGGCCCCCCGTGT		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587930	CACCCACA others(20): Show CACCCACAGATACACGGCCCCCCGTGTT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18970.hp1 NA18977.hp1 others(1): Show NA18966.hp2 NA18970.hp1 NA18977.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0115 a0001c0001t0001g0141 a0001c0002t0003g0018 others(1): Show a0001c0001t0001g0115 a0001c0001t0001g0141 a0001c0002t0003g0018 a0001c0002t0003g0192	4	348	0.0115	-27	c.928 others(42): Show c.928-723_928-697delCGTGTTACCCACAGATACACGGCCCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587983	CACCCACA others(20): Show CACCCACAGATACACGGCCCCCCGTGTT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18952.hp2 HG02155.hp2 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0007 a0002c0003t0007 a0001c0002t0007 a0002c0003t0007	a0001c0002t0007g0235 a0002c0003t0007g0298 a0001c0002t0007g0235 a0002c0003t0007g0298	2	348	0.0058	-27	c.928 others(42): Show c.928-665_928-639delTACCCACAGATACACGGCCCCCCGTGT		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588048	CACCCACA others(20): Show CACCCACAGATACACGGCCCCCCGTGTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG02165.hp1 others(3): Show HG00323.hp1 HG00597.hp2 HG02165.hp1 NA18964.hp2 NA19010.hp1 NA19057.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0002c0003t0002 a0003c0006t0003	a0001c0001t0001g0244 a0001c0002t0002g0299 a0001c0002t0003g0272 others(3): Show a0001c0001t0001g0244 a0001c0002t0002g0299 a0001c0002t0003g0272 a0001c0002t0004g0118 a0002c0003t0002g0312 a0003c0006t0003g0146	6	348	0.0172	-27	c.928 others(42): Show c.928-605_928-579delCGTGTTACCCACAGATACACGGCCCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38902366	AAGAAAGA others(20): Show AAGAAAGAAAGAAAGAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA20129.hp2 HG02630.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0021 a0001c0001t0021g0022 a0001c0001t0001g0021 a0001c0001t0021g0022	2	342	0.0059	-27	c.98+ others(42): Show c.98+3044_98+3070delCTTTCTTTCTTTTCTTTCTTTCTTTCT		CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19						chr12	TogoVar
CPO_chr2_206934518_206974474	206943702	AGATAGAT others(20): Show AGATAGATAGATAGATGATGGATAGATG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18942.hp2 NA18943.hp2 HG00741.hp1 NA18942.hp2 NA18943.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0001 a0001c0004t0001 a0002c0003t0001	a0001c0004t0001g0137 a0002c0003t0001g0062 a0002c0003t0001g0351 a0001c0004t0001g0137 a0002c0003t0001g0062 a0002c0003t0001g0351	3	422	0.0071	-27	c.68+ others(42): Show c.68+4036_68+4062delGATAGATAGATAGATGATGGATAGATG		CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8						chr2	TogoVar
CPO_chr2_206934518_206974474	206943706	AGATAGAT others(20): Show AGATAGATAGATGATGGATAGATGATAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0358 a0002c0003t0001g0358	1	422	0.0024	-27	c.68+ others(42): Show c.68+4040_68+4066delGATAGATAGATGATGGATAGATGATAG		CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8						chr2	TogoVar
CPO_chr2_206934518_206974474	206943709	TAGATAGA others(20): Show TAGATAGATGATGGATAGATGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG03540.hp2 others(1): Show HG02723.hp1 HG02896.hp2 HG03540.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0029 a0002c0002t0001g0282 a0002c0002t0001g0283	4	422	0.0095	-27	c.68+ others(42): Show c.68+4043_68+4069delAGATAGATGATGGATAGATGATAGATA		CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8						chr2	TogoVar
CPXM1_chr20_2789074_2805627	2800116	GCGCGCGC others(20): Show GCGCGCGCGTGCACTGTGTGTGCGCGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00544.hp1 others(50): Show HG00099.hp2 HG00438.hp1 HG00544.hp1 HG00673.hp1 HG00738.hp1 HG01074.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01928.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG04115.hp2 NA18939.hp2 NA18942.hp1 NA18948.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0025 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038	53	454	0.1167	-27	c.172 others(42): Show c.172+258_172+284delTGCGCGCACACACAGTGCACGCGCGCG		CPXM1	ENSG00000088882.8	transcript	ENST00000380605.3	protein_coding	1/13						chr20	TogoVar
CRB1_chr1_197263252_197483455	197292407	GCAATAAT others(20): Show GCAATAATTAATAGCCTACCACCCAAAA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20300.hp1 HG02818.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0168 a0001c0002t0001g0167 a0001c0001t0001g0168 a0001c0002t0001g0167	2	186	0.0108	-27	c.70+ others(44): Show c.70+23926_70+23952delCAATAATTAATAGCCTACCACCCAAAA		CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11						chr1	TogoVar
CRB1_chr1_197263252_197483455	197354817	GCCCCCCC others(20): Show GCCCCCCCACCCCCCCCCCCCGCCCACC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp2 HG02165.hp1 others(3): Show HG00738.hp2 HG01168.hp2 HG02165.hp1 NA18943.hp1 NA18975.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0041 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0096 a0001c0001t0001g0163 a0001c0001t0003g0025	6	186	0.0323	-27	c.989 others(44): Show c.989-2006_989-1980delACCCCCCCCCCCCGCCCACCCCCCCCC		CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB3_chr19_6459271_6472221	6461233	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00673.hp1 others(30): Show HG00544.hp1 HG00544.hp2 HG00673.hp1 HG01516.hp1 HG02027.hp1 HG02080.hp2 HG02165.hp1 HG02451.hp1 HG02723.hp1 HG02809.hp1 HG03239.hp2 HG03453.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18944.hp1 NA18974.hp2 NA18977.hp2 NA19057.hp1 NA19059.hp1 NA19066.hp1 NA19080.hp1 NA19088.hp2 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0002t0002g0003 a0001c0001t0001g0001 a0001c0002t0002g0003	33	390	0.0846	-27	c.-32 others(38): Show c.-3211_-3185delTTTTTTTTTTTTTTTTTTTTTTTTTTT		CRB3	ENSG00000130545.16	transcript	ENST00000600229.6	protein_coding					3037		chr19	TogoVar
CREB5_chr7_28407518_28830894	28786540	GCCAGGCC others(20): Show GCCAGGCCTATGGCCTACCTAGGTACTT	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02004.hp2 HG01934.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0064 a0001c0001t0001g0041 a0001c0001t0001g0064	2	198	0.0101	-27	c.703 others(46): Show c.703-17658_703-17632delCCAGGCCTATGGCCTACCTAGGTACT T		CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	7/10						chr7	TogoVar
CREBBP_chr16_3720054_3885713	3849423	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0064 a0001c0003t0002g0064	1	286	0.0035	-27	c.798 others(42): Show c.798+847_798+873delACACACACACACACACACACACACACA		CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30						chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849427	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0155 a0001c0001t0035g0155	1	286	0.0035	-27	c.798 others(42): Show c.798+843_798+869delACACACACACACACACACACACACACA		CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30						chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849433	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19063.hp2 NA18948.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0100 a0001c0001t0003g0087 a0001c0001t0001g0100 a0001c0001t0003g0087	2	286	0.0070	-27	c.798 others(42): Show c.798+837_798+863delACACACACACACACACACACACACACA		CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30						chr16	TogoVar

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