Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
CFAP97D2_chr13_114174257_114228085	114225444	G G	GAGGGAAG others(46): Show GAGGGAAGGGGAGGGAGGGGGAGGGAAAGGGGGAGGGGAGGGAGGGGGAG GGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	400	0.0025	53	c.29 others(64): Show c.2937_*2938insAGGGAAGGGGAGGGAGGGGGAGGGAAAGGGGGAG GGGAGGGAGGGGGAGGGAA		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding					2360		chr13	TogoVar
CFI_chr4_109735695_109806999	109752962	T T	TTATATAA others(46): Show TTATATAAATAAATATTTATAATATATATTTATTATATAAATAAATATTT ATAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03139.hp1 NA18906.hp2 HG02976.hp1 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177	3	354	0.0085	53	c.905 others(68): Show c.905-460_905-459insTTATAAATATTTATTTATATAATAAATATA TATTATAAATATTTATTTATATA		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12						chr4	TogoVar
CFI_chr4_109735695_109806999	109753048	T T	TTATATAA others(46): Show TTATATAAACAAATATTTATAATATATATTTATTATATAAATAAATATTT ATAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp1 HG02280.hp1 others(2): Show HG00735.hp2 HG02055.hp1 HG02280.hp1 HG03486.hp1 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0178 a0001c0002t0001g0179 others(2): Show a0001c0002t0001g0142 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181	5	354	0.0141	53	c.905 others(68): Show c.905-546_905-545insTTATAAATATTTATTTATATAATAAATATA TATTATAAATATTTGTTTATATA		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12						chr4	TogoVar
CFI_chr4_109735695_109806999	109753216	T T	TTATATAA others(46): Show TTATATAAATAAATATTTATAATATATATTTATTATATAAATAAATATTT ATAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0347 a0001c0001t0003g0347	1	354	0.0028	53	c.905 others(68): Show c.905-714_905-713insTTATAAATATTTATTTATATAATAAATATA TATTATAAATATTTATTTATATA		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12						chr4	TogoVar
CHFR_chr12_132827356_132892605	132874958	G G	GGAAGCCA others(46): Show GGAAGCCAGGCCCTGATGTAGGCGGGAAAGCCCAGGACCAGCACCCAGCG TGGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	2	378	0.0053	53	c.233 others(70): Show c.233+2544_234-2565dupTCCACGCTGGGTGCTGGTCCTGGGCTTT CCCGCCTACATCAGGGCCTGGCTTC		CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	3/17						chr12	TogoVar
CHL1_chr3_191763_414417	226374	T T	TTATATAT others(46): Show TTATATATATATATATACTTATATATTATATATTATATAATAGAATATTT TATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0032 a0019c0022t0032	a0019c0022t0032g0240 a0019c0022t0032g0240	1	290	0.0035	53	c.-17 others(74): Show c.-174-18227_-174-18226insTATACTTATATATTATATATTATA TAATAGAATATTTTATATATATATATATA		CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHRM3_chr1_239381568_239920450	239552309	A A	AGATATGT others(46): Show AGATATGTATCATATATATAGATGATATGTATCATATTTTATATATGTAT AGAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp2 HG03041.hp1 others(2): Show HG02109.hp1 HG02723.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0039 a0001c0001t0040 others(2): Show a0001c0001t0003 a0001c0001t0039 a0001c0001t0040 a0001c0001t0055 a0001c0001t0058	a0001c0001t0003g0039 a0001c0001t0039g0112 a0001c0001t0040g0102 others(2): Show a0001c0001t0003g0039 a0001c0001t0039g0112 a0001c0001t0040g0102 a0001c0001t0055g0113 a0001c0001t0058g0011	5	116	0.0431	53	c.-31 others(72): Show c.-313+6579_-313+6631dupAGATGATATGTATCATATTTTATATA TGTATAGATGATATGTATCATATATAT		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239634396	A A	AGAAAGAA others(46): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0078 a0001c0001t0013g0078	1	116	0.0086	53	c.-25 others(72): Show c.-250+2119_-250+2120insAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGGAAAGAAAG		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CLDN8_chr21_30209006_30221097	30210288	T T	TATATATA others(46): Show TATATATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAG GTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02055.hp1 HG01952.hp1 HG02055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	2	466	0.0043	53	c.49 others(64): Show c.4959_*4960insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3717		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210290	T T	TATATATA others(46): Show TATATATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAG GTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	466	0.0022	53	c.49 others(64): Show c.4957_*4958insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3715		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210574	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATAGTCTCCCTAATTCTAATTC AAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0000 a0002c0002t0008g0000	1	466	0.0022	53	c.46 others(64): Show c.4673_*4674insCCTTGAATTAGAATTAGGGAGACTATATATATAT ATATATATATATATATATA		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3431		chr21	TogoVar
CLSTN2_chr3_139930185_140582397	140538108	G G	GATCCTCA others(46): Show GATCCTCATCTATTCTTGGTGGAGATCTCATCTCAGGGCCCTGCTCATTG CCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01243.hp1 HG02109.hp1 others(19): Show HG00621.hp1 HG01243.hp1 HG02109.hp1 HG02280.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02886.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19087.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0008 a0001c0009 others(6): Show a0001c0001 a0001c0008 a0001c0009 a0001c0015 a0001c0019 a0002c0002 a0002c0017 a0004c0013 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0030 a0001c0001t0036 a0001c0001t0041 a0001c0008t0016 a0001c0009t0018 a0001c0015t0001 a0001c0019t0021 a0002c0002t0001 a0002c0002t0002 a0002c0017t0005 a0004c0013t0008 a0005c0011t0002	a0001c0001t0001g0019 a0001c0001t0001g0093 a0001c0001t0002g0091 others(19): Show a0001c0001t0001g0019 a0001c0001t0001g0093 a0001c0001t0002g0091 a0001c0001t0006g0025 a0001c0001t0006g0040 a0001c0001t0006g0055 a0001c0001t0006g0057 a0001c0001t0006g0095 a0001c0001t0030g0059 a0001c0001t0036g0044 a0001c0001t0041g0047 a0001c0008t0016g0051 a0001c0009t0018g0018 a0001c0015t0001g0021 a0001c0019t0021g0036 a0002c0002t0001g0074 a0002c0002t0002g0002 a0002c0002t0002g0029 a0002c0002t0002g0097 a0002c0017t0005g0027 a0004c0013t0008g0099 a0005c0011t0002g0087	22	110	0.2000	53	c.150 others(72): Show c.1507+5659_1507+5660insCCCTGCTCATTGCCTCATCCTCATCT ATTCTTGGTGGAGATCTCATCTCAGGG		CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140538108	G G	GATCCTCA others(46): Show GATCCTCATCTATTCTTGGTGGAGATCTCGTCTCAGGGCCCTGCTCATTG CCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01109.hp2 others(30): Show HG00735.hp1 HG00738.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01496.hp2 HG01884.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG06807.hp2 NA19043.hp1 NA19066.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0006 others(12): Show a0001c0001 a0001c0003 a0001c0006 a0001c0009 a0001c0014 a0002c0002 a0002c0004 a0002c0005 a0002c0010 a0002c0016 a0002c0021 a0002c0022 a0002c0023 a0003c0012 a0004c0013	a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 others(24): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0025 a0001c0001t0043 a0001c0003t0012 a0001c0006t0004 a0001c0006t0031 a0001c0009t0010 a0001c0009t0022 a0001c0014t0032 a0002c0002t0004 a0002c0002t0011 a0002c0002t0027 a0002c0002t0028 a0002c0002t0033 a0002c0002t0044 a0002c0004t0037 a0002c0005t0001 a0002c0005t0004 a0002c0010t0023 a0002c0016t0015 a0002c0021t0009 a0002c0022t0010 a0002c0023t0010 a0003c0012t0008 a0004c0013t0008	a0001c0001t0005g0026 a0001c0001t0005g0035 a0001c0001t0005g0089 others(30): Show a0001c0001t0005g0026 a0001c0001t0005g0035 a0001c0001t0005g0089 a0001c0001t0011g0031 a0001c0001t0013g0090 a0001c0001t0025g0004 a0001c0001t0043g0064 a0001c0003t0012g0052 a0001c0003t0012g0053 a0001c0006t0004g0098 a0001c0006t0031g0024 a0001c0009t0010g0110 a0001c0009t0022g0049 a0001c0014t0032g0028 a0002c0002t0004g0107 a0002c0002t0011g0039 a0002c0002t0027g0058 a0002c0002t0028g0005 a0002c0002t0033g0008 a0002c0002t0044g0096 a0002c0004t0037g0073 a0002c0005t0001g0034 a0002c0005t0004g0038 a0002c0005t0004g0046 a0002c0005t0004g0077 a0002c0005t0004g0092 a0002c0010t0023g0081 a0002c0016t0015g0088 a0002c0021t0009g0030 a0002c0022t0010g0020 a0002c0023t0010g0104 a0003c0012t0008g0041 a0004c0013t0008g0106	33	110	0.3000	53	c.150 others(72): Show c.1507+5650_1507+5651insGTCTCAGGGCCCTGCTCATTGCCTCA TCCTCATCTATTCTTGGTGGAGATCTC		CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUAP1_chr16_3496004_3544048	3529451	T T	TTATATAT others(46): Show TTATATATAATATATATTATATTATATATTATATATAATATATATTATAT TATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0291 a0002c0002t0002g0291	1	382	0.0026	53	c.929 others(70): Show c.929-1114_929-1113insATATAATATATATTATATTATATATTAT ATATAATATATATTATATTATATAT		CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMC2_chr16_80961448_81011885	80965245	G G	GTATATAT others(46): Show GTATATATATATATACATATATATATATATATATATATGTATATATATAT ATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0062 a0002c0002t0062	a0002c0002t0062g0164 a0002c0002t0062g0164	1	408	0.0025	53	c.10 others(66): Show c.10847_*10848insATATATATATATATACATATATATATATATAT ATATATGTATATATATATATA		CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding					1202		chr16	TogoVar
CNBD1_chr8_86861415_87387859	87374874	T T	TTGAATTA others(46): Show TTGAATTAAGCAACCAAGATTTTAGTTTGTTATAGCAACTACCAAGTGCT ACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG06807.hp2 NA20129.hp2 HG03471.hp1 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0104 a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0104	3	152	0.0197	53	c.130 others(72): Show c.1304-7742_1304-7690dupATTAAGCAACCAAGATTTTAGTTTGT TATAGCAACTACCAAGTGCTACACTGA		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTCT others(46): Show TTCTTTCTTTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTCTTTC TTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA20752.hp1 NA19007.hp2 NA20752.hp1	a0002 a0008 a0002 a0008	a0002c0006 a0008c0025 a0002c0006 a0008c0025	a0002c0006t0008 a0008c0025t0001 a0002c0006t0008 a0008c0025t0001	a0002c0006t0008g0084 a0008c0025t0001g0122 a0002c0006t0008g0084 a0008c0025t0001g0122	2	360	0.0056	53	c.43 others(64): Show c.4376_*4377insGAAAGAAAGAAGGAAAGAAAGAAAGAAAGGAAAG AAAGAAAAAGAAAGAAAGA		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding					2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTCT others(46): Show TTCTTTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTCTTTCTTTC TTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0118 a0001c0004t0001g0118	1	360	0.0028	53	c.43 others(64): Show c.4376_*4377insGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGG AAAGAAAGAAAAAGAAAGA		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding					2552		chr16	TogoVar
CNTN6_chr3_1088024_1409217	1245308	A A	AACATATA others(46): Show AACATATATATATATAACATATATATATAACATATATATATAACATATAT ATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0001 a0001c0007t0001g0001	1	232	0.0043	53	c.358 others(72): Show c.358+17315_358+17316insACATATATATATATAACATATATATA TAACATATATATATAACATATATATAT		CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22						chr3	TogoVar
COL15A1_chr9_98938907_99075787	99003558	A A	ACGGAGAA others(46): Show ACGGAGAAACCCAGAGGAAGGGGTCACTCCAGTAAGTAGCTCAGAGCGCA AGCT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18985.hp2 NA18985.hp2	a0044 a0044	a0044c0058 a0044c0058	a0044c0058t0002 a0044c0058t0002	a0044c0058t0002g0144 a0044c0058t0002g0144	1	310	0.0032	53	c.117 others(62): Show c.1178_1179insACCCAGAGGAAGGGGTCACTCCAGTAAGTAGCTCAG AGCGCAAGCTCGGAGAA	p.Asn others(5): Show p.Asn393fs	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	8/42	1334/5223	1179/4167	393/1388		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A1_chr13_110143963_110312157	110255625	C C	CAAGAAGG others(46): Show CAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp2 HG02896.hp1 others(1): Show HG02615.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0030 a0002c0048 a0002c0002 a0002c0030 a0002c0048	a0002c0002t0001 a0002c0030t0008 a0002c0048t0001 a0002c0002t0001 a0002c0030t0008 a0002c0048t0001	a0002c0002t0001g0200 a0002c0030t0008g0189 a0002c0048t0001g0186 others(1): Show a0002c0002t0001g0200 a0002c0030t0008g0189 a0002c0048t0001g0186 a0002c0048t0001g0187	4	344	0.0116	53	c.85- others(70): Show c.85-12892_85-12891insTCCCCCTCCCTTCCTGCCTTTCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCTT		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAAGAAGG others(46): Show CAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG03098.hp2 others(1): Show HG02258.hp2 HG02280.hp2 HG03098.hp2 HG03139.hp1	a0002 a0003 a0002 a0003	a0002c0029 a0003c0009 a0003c0038 others(1): Show a0002c0029 a0003c0009 a0003c0038 a0003c0101	a0002c0029t0003 a0003c0009t0001 a0003c0038t0001 others(1): Show a0002c0029t0003 a0003c0009t0001 a0003c0038t0001 a0003c0101t0001	a0002c0029t0003g0230 a0003c0009t0001g0229 a0003c0038t0001g0228 others(1): Show a0002c0029t0003g0230 a0003c0009t0001g0229 a0003c0038t0001g0228 a0003c0101t0001g0227	4	344	0.0116	53	c.85- others(70): Show c.85-12935_85-12934insTTCCCCTCCCTTCCTGCCTTTCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCTT		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAAGAAGG others(46): Show CAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02300.hp2 HG02698.hp2 others(2): Show HG00323.hp1 HG02300.hp2 HG02698.hp2 HG03491.hp1 HG03704.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0007 a0001c0013 a0002c0039 others(2): Show a0001c0007 a0001c0013 a0002c0039 a0004c0005 a0004c0022	a0001c0007t0001 a0001c0013t0001 a0002c0039t0002 others(2): Show a0001c0007t0001 a0001c0013t0001 a0002c0039t0002 a0004c0005t0001 a0004c0022t0001	a0001c0007t0001g0046 a0001c0013t0001g0050 a0002c0039t0002g0302 others(2): Show a0001c0007t0001g0046 a0001c0013t0001g0050 a0002c0039t0002g0302 a0004c0005t0001g0115 a0004c0022t0001g0012	5	344	0.0145	53	c.85- others(70): Show c.85-12935_85-12934insTCCCCCTCCCTTCCTGCCTTTCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCTT		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT TTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03927.hp1 HG02280.hp2 HG03927.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0002 a0006c0013t0001 a0001c0001t0002 a0006c0013t0001	a0001c0001t0002g0318 a0006c0013t0001g0329 a0001c0001t0002g0318 a0006c0013t0001g0329	2	344	0.0058	53	c.546 others(68): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTTT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	344	0.0029	53	c.546 others(68): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTTT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT TTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0243 a0005c0005t0001g0243	1	344	0.0029	53	c.546 others(68): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTTT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT TTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0234 a0002c0004t0006g0234	1	344	0.0029	53	c.546 others(68): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTTTT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL6A1_chr21_45976770_46010048	45981618	T T	TCCCGCCC others(46): Show TCCCGCCCCTCCCCTCCCCTCCCCTCCCGCCCCTCCCCTCCCCTCCCCTC CCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 NA18983.hp2 NA19004.hp1 HG02148.hp1 NA18983.hp2 NA19004.hp1	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0003c0004 a0012c0033 a0001c0001 a0003c0004 a0012c0033	a0001c0001t0002 a0003c0004t0002 a0012c0033t0002 a0001c0001t0002 a0003c0004t0002 a0012c0033t0002	a0001c0001t0002g0079 a0003c0004t0002g0091 a0012c0033t0002g0080 a0001c0001t0002g0079 a0003c0004t0002g0091 a0012c0033t0002g0080	3	128	0.0234	53	c.-23 others(62): Show c.-233_-232insCCCGCCCCTCCCCTCCCCTCCCCTCCCGCCCCTCCC CTCCCCTCCCCTCCCGC		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					151		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46110777	A A	AGCACAGT others(46): Show AGCACAGTGAGGCCCGTCCTGATGGCCTCCAGCTCCACTCTGCGGAGTCA GCGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(142): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18972.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19066.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(13): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0001c0028 a0001c0029 a0001c0030 a0005c0015	a0001c0001t0001 a0001c0002t0010 a0001c0005t0001 others(16): Show a0001c0001t0001 a0001c0002t0010 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0006t0005 a0001c0006t0006 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0020t0001 a0001c0021t0001 a0001c0023t0001 a0001c0024t0001 a0001c0028t0006 a0001c0029t0001 a0001c0030t0001 a0005c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(131): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0218 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0337 a0001c0002t0010g0123 a0001c0005t0001g0005 a0001c0005t0001g0036 a0001c0005t0001g0040 a0001c0005t0001g0100 a0001c0005t0001g0104 a0001c0005t0001g0110 a0001c0005t0001g0112 a0001c0005t0001g0118 a0001c0005t0001g0130 a0001c0005t0001g0157 a0001c0005t0001g0158 a0001c0005t0001g0165 a0001c0005t0001g0171 a0001c0005t0001g0190 a0001c0005t0002g0177 a0001c0005t0003g0127 a0001c0005t0003g0141 a0001c0005t0003g0142 a0001c0005t0003g0251 a0001c0006t0005g0057 a0001c0006t0005g0058 a0001c0006t0005g0059 a0001c0006t0005g0064 a0001c0006t0005g0236 a0001c0006t0005g0237 a0001c0006t0005g0238 a0001c0006t0006g0248 a0001c0006t0006g0249 a0001c0009t0001g0106 a0001c0009t0001g0111 a0001c0009t0001g0115 a0001c0009t0001g0120 a0001c0009t0001g0121 a0001c0009t0001g0148 a0001c0010t0001g0172 a0001c0010t0001g0191 a0001c0011t0001g0335 a0001c0011t0001g0336 a0001c0012t0001g0240 a0001c0012t0001g0257 a0001c0020t0001g0181 a0001c0021t0001g0180 a0001c0023t0001g0034 a0001c0024t0001g0009 a0001c0028t0006g0247 a0001c0029t0001g0143 a0001c0030t0001g0160 a0005c0015t0001g0162	145	372	0.3898	53	c.-27 others(68): Show c.-27-644_-27-643insAGCTCCACTCTGCGGAGTCAGCGGGCACAG TGAGGCCCGTCCTGATGGCCTCC		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46110777	A A	AGCACAGT others(46): Show AGCACAGTGAGGCCCGTCCTGATGGCCTCCAGCTCCACTCTGTGGAGTCA GCGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0003 a0001c0027t0003	a0001c0027t0003g0252 a0001c0027t0003g0252	1	372	0.0027	53	c.-27 others(68): Show c.-27-644_-27-643insAGCTCCACTCTGTGGAGTCAGCGGGCACAG TGAGGCCCGTCCTGATGGCCTCC		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46110777	A A	AGCACAGT others(46): Show AGCACAGTGAGGCCCGTCCTGATGGCCTCCAGCTCCACTCTGCGGAGTCA GCGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(138): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19066.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0004 others(21): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0025 a0001c0026 a0001c0034 a0001c0036 a0001c0037 a0001c0038 a0001c0040 a0001c0041 a0001c0047 a0001c0048 a0001c0049 a0012c0052	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(26): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0006t0001 a0001c0006t0010 a0001c0007t0003 a0001c0007t0005 a0001c0011t0001 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0006 a0001c0022t0001 a0001c0025t0001 a0001c0026t0005 a0001c0034t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0040t0001 a0001c0041t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0012c0052t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(132): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0006g0132 a0001c0001t0006g0171 a0001c0001t0011g0334 a0001c0002t0001g0039 a0001c0002t0002g0123 a0001c0004t0001g0007 a0001c0004t0001g0037 a0001c0004t0001g0042 a0001c0004t0001g0102 a0001c0004t0001g0104 a0001c0004t0001g0110 a0001c0004t0001g0112 a0001c0004t0001g0118 a0001c0004t0001g0127 a0001c0004t0001g0131 a0001c0004t0001g0142 a0001c0004t0001g0143 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0162 a0001c0004t0001g0168 a0001c0004t0001g0174 a0001c0004t0001g0186 a0001c0004t0001g0248 a0001c0006t0001g0002 a0001c0006t0001g0151 a0001c0006t0001g0165 a0001c0006t0001g0166 a0001c0006t0001g0167 a0001c0006t0001g0180 a0001c0006t0001g0188 a0001c0006t0001g0242 a0001c0006t0010g0164 a0001c0007t0003g0246 a0001c0007t0005g0059 a0001c0007t0005g0060 a0001c0007t0005g0061 a0001c0007t0005g0066 a0001c0011t0001g0106 a0001c0011t0001g0111 a0001c0011t0001g0115 a0001c0011t0001g0120 a0001c0011t0001g0121 a0001c0011t0001g0177 a0001c0014t0001g0002 a0001c0014t0001g0003 a0001c0014t0001g0012 a0001c0018t0001g0169 a0001c0018t0001g0187 a0001c0019t0001g0332 a0001c0019t0001g0333 a0001c0020t0001g0002 a0001c0020t0001g0117 a0001c0021t0006g0145 a0001c0021t0006g0176 a0001c0022t0001g0236 a0001c0022t0001g0254 a0001c0025t0001g0232 a0001c0026t0005g0233 a0001c0026t0005g0234 a0001c0034t0001g0178 a0001c0036t0001g0035 a0001c0037t0001g0012 a0001c0038t0001g0129 a0001c0040t0001g0008 a0001c0041t0001g0128 a0001c0047t0001g0245 a0001c0048t0001g0144 a0001c0049t0001g0158 a0012c0052t0001g0160	141	364	0.3874	53	c.-27 others(68): Show c.-27-644_-27-643insAGCTCCACTCTGCGGAGTCAGCGGGCACAG TGAGGCCCGTCCTGATGGCCTCC		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46110777	A A	AGCACAGT others(46): Show AGCACAGTGAGGCCCGTCCTGATGGCCTCCAGCTCCACTCTGTGGAGTCA GCGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0249 a0001c0046t0001g0249	1	364	0.0028	53	c.-27 others(68): Show c.-27-644_-27-643insAGCTCCACTCTGTGGAGTCAGCGGGCACAG TGAGGCCCGTCCTGATGGCCTCC		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COLGALT1_chr19_17550649_17588157	17576916	C C	CGTGAAGC others(46): Show CGTGAAGCTGGGGCCTGGGGTGTGGCCAGGGCTGAGAGGCAGGACTGGGG GCGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp2 NA18522.hp2 others(1): Show HG02976.hp1 HG03098.hp2 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0016 a0001c0004t0007g0149 a0001c0004t0007g0016 a0001c0004t0007g0149	4	396	0.0101	53	c.950 others(68): Show c.950-278_950-277insTGAAGCTGGGGCCTGGGGTGTGGCCAGGGC TGAGAGGCAGGACTGGGGGCGGG		COLGALT1	ENSG00000130309.12	transcript	ENST00000252599.9	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
COMMD10_chr5_116080025_116298287	116158476	C C	CTCTCCTC others(46): Show CTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCCCTCTCCTCTCTCTCCCTC TCCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0196 a0001c0004t0001g0196	1	350	0.0029	53	c.510 others(72): Show c.510+24298_510+24299insTCTCCTCTCTCTCCCTCTCCTCTCTC TCCCCCTCTCCTCTCTCTCCCTCTCCT		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6						chr5	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAAGAAA others(46): Show GAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02735.hp2 HG02040.hp1 HG02735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0040 a0002c0003t0001g0068 a0002c0003t0001g0040 a0002c0003t0001g0068	2	330	0.0061	53	c.735 others(68): Show c.735+442_735+443insTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TCTTTCTTTCTTTTTCTTTCTTT		COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9						chr19	TogoVar
COPE_chr19_18894514_18924387	18902826	A A	AAAGAAAG others(46): Show AAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0266 a0003c0011t0001g0266	1	330	0.0030	53	c.735 others(68): Show c.735+441_735+442insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTT		COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9						chr19	TogoVar
CORIN_chr4_47589001_47843067	47674138	T T	TGGTAGAG others(46): Show TGGTAGAGGGAATTCTAATGGCTGGGGAGGGGGTGGGAAAAGAGACTCAG ATGG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0193 a0002c0003t0003g0193	1	264	0.0038	53	c.135 others(70): Show c.1357+254_1357+255insCCATCTGAGTCTCTTTTCCCACCCCCTC CCCAGCCATTAGAATTCCCTCTACC		CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	10/21						chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587744	G G	GCCCCCGT others(46): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGAAACA CGGC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0268 a0003c0006t0003g0268	1	348	0.0029	53	c.927 others(68): Show c.927+656_927+657insACAGATACACGGCCCCCGTGTCACCCACAG AAACACGGCCCCCCGTGTCACCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587909	G G	GCCCCCGT others(46): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	348	0.0029	53	c.928 others(68): Show c.928-752_928-751insACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCCCCCGTGTCACCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587920	A A	ACCCACAG others(46): Show ACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAAC ACGG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19011.hp2 NA18946.hp1 NA19011.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0274 a0003c0006t0003g0275 a0003c0006t0003g0274 a0003c0006t0003g0275	2	348	0.0058	53	c.928 others(68): Show c.928-752_928-751insACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGAAACACGGCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588128	A A	ACCCACAG others(46): Show ACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	348	0.0029	53	c.928 others(68): Show c.928-544_928-543insACAGATACACGGCCCCCGTGTCACCCGCGT GTCACCCACAGATACACGGCCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588138	C C	CACCCACA others(46): Show CACCCACAGAAACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCG TGTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0126 a0002c0003t0003g0126	1	348	0.0029	53	c.928 others(68): Show c.928-528_928-527insAACACGGCCCCCGTGTTACCCACAGATACA CGGCCCCCCGTGTTACCCACAGA		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588202	A A	ACCCACAG others(46): Show ACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATAC ACGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03831.hp2 HG02083.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0103 a0001c0002t0004g0227 a0001c0001t0001g0103 a0001c0002t0004g0227	2	348	0.0058	53	c.928 others(68): Show c.928-470_928-469insACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588202	A A	AGCCACAG others(46): Show AGCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATAC ACGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA20300.hp1 HG02896.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0109 a0001c0001t0001g0065 a0001c0001t0001g0109	2	348	0.0058	53	c.928 others(68): Show c.928-473_928-472insGCCACAGATACACGGCCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGG		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14						chr16	TogoVar
CRACD_chr4_56044098_56335609	56214679	C C	CTTCTCTC others(46): Show CTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA TATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0195 a0002c0008t0002g0195	1	250	0.0040	53	c.-18 others(74): Show c.-189+35250_-189+35251insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTATATATATATATATATAT		CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CREM_chr10_35121846_35217953	35186723	T T	TATATATA others(46): Show TATATATAATTATATATAGTTATAATTATATATAGTTATATATAATATAT AACA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	294	0.0034	53	c.410 others(70): Show c.410-1475_410-1423dupTATATAATTATATATAGTTATAATTATA TATAGTTATATATAATATATAACAA		CREM	ENSG00000095794.21	transcript	ENST00000685392.1	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
CROCC2_chr2_240901336_240998311	240923678	G G	GTCCCCAC others(46): Show GTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACC CGGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02647.hp2 HG02970.hp2 others(2): Show HG00741.hp1 HG02647.hp2 HG02970.hp2 HG03225.hp2 NA19043.hp2	a0019 a0020 a0057 others(1): Show a0019 a0020 a0057 a0058	a0019c0015 a0020c0028 a0057c0031 others(1): Show a0019c0015 a0020c0028 a0057c0031 a0058c0027	a0019c0015t0001 a0020c0028t0001 a0057c0031t0001 others(1): Show a0019c0015t0001 a0020c0028t0001 a0057c0031t0001 a0058c0027t0003	a0019c0015t0001g0028 a0019c0015t0001g0108 a0020c0028t0001g0027 others(2): Show a0019c0015t0001g0028 a0019c0015t0001g0108 a0020c0028t0001g0027 a0057c0031t0001g0107 a0058c0027t0003g0026	5	350	0.0143	53	c.488 others(70): Show c.488+1033_488+1034insTCCCCACACTGACCCAGCCCCCACACTA ACCCGGCCCCCCACACTAACCCGGC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31						chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923766	G G	GTCCCCAC others(46): Show GTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACC CGGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00673.hp1 others(16): Show HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00738.hp1 HG01109.hp1 HG01981.hp2 HG02015.hp1 HG02056.hp1 HG02109.hp1 HG02129.hp1 HG02155.hp1 HG03209.hp1 HG03710.hp1 HG04228.hp2 NA18995.hp2 NA19004.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0027	a0001c0001 a0001c0020 a0001c0067 others(4): Show a0001c0001 a0001c0020 a0001c0067 a0002c0002 a0002c0068 a0008c0008 a0027c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0020t0002 a0001c0067t0002 a0002c0002t0001 a0002c0002t0002 a0002c0068t0001 a0008c0008t0002 a0027c0034t0002	a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0002g0267 others(16): Show a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0003g0064 a0001c0020t0002g0263 a0001c0067t0002g0287 a0002c0002t0001g0120 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0168 a0002c0002t0002g0245 a0002c0002t0002g0260 a0002c0002t0002g0268 a0002c0002t0002g0316 a0002c0068t0001g0078 a0008c0008t0002g0254 a0008c0008t0002g0266 a0027c0034t0002g0261	19	350	0.0543	53	c.488 others(70): Show c.488+1121_488+1122insTCCCCACACTAACCCGGCCCCCACACTA ACCCGGCCCCCCACACTAACCCGGC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31						chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923766	G G	GTCCCCAC others(46): Show GTCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACC CGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02976.hp1 others(1): Show HG02451.hp1 HG02486.hp1 HG02976.hp1 NA19088.hp2	a0001 a0013 a0016 a0001 a0013 a0016	a0001c0001 a0013c0023 a0016c0092 a0001c0001 a0013c0023 a0016c0092	a0001c0001t0003 a0013c0023t0001 a0013c0023t0008 others(1): Show a0001c0001t0003 a0013c0023t0001 a0013c0023t0008 a0016c0092t0001	a0001c0001t0003g0226 a0013c0023t0001g0114 a0013c0023t0008g0110 others(1): Show a0001c0001t0003g0226 a0013c0023t0001g0114 a0013c0023t0008g0110 a0016c0092t0001g0113	4	350	0.0114	53	c.488 others(70): Show c.488+1121_488+1122insTCCCCACACTGACCCGGCCCCCACACTA ACCCGGCCCCCCACACTAACCCGGC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31						chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923811	A A	AACCCGGC others(46): Show AACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCAC ACTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0056 a0056	a0056c0032 a0056c0032	a0056c0032t0001 a0056c0032t0001	a0056c0032t0001g0104 a0056c0032t0001g0104	1	350	0.0029	53	c.488 others(70): Show c.488+1206_488+1207insAGCCCCCACACTGACCCGGCCCCCCACA CTAACCCGGCCCCCCACACTAACCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar

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