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
CFAP299_chr4_80330730_80968750	80799332	A A	AATATTTA others(42): Show AATATTTATATATAAATATATTTATATAATATATATATAAATATATTTAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0050	1	96	0.0104	49	c.334 others(68): Show c.334-70648_334-70647insAATATATTTATATAATATATATATAA ATATATTTATATATTTATATATA		CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP43_chr10_104124888_104237364	104233312	A A	AGGGGGGG others(42): Show AGGGGGGGGGGGGGGGAGGGAGACGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	306	0.0033	49	c.-10 others(60): Show c.-1067_-1066insCCCCCCCCCCCCCCCCCCCCCCCCCCGTCTCCCT CCCCCCCCCCCCCCC		CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding					949		chr10	TogoVar
CFAP46_chr10_132803392_132947570	132906684	C C	CGGGGTCC others(42): Show CGGGGTCCTGGCGCGTGATGCCCCGTCCTGGGCACTGAGAAGAGTGAACG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0026 a0026	a0026c0078 a0026c0078	a0026c0078t0002 a0026c0078t0002	a0026c0078t0002g0033 a0026c0078t0002g0033	1	246	0.0041	49	c.292 others(68): Show c.2924+1735_2924+1783dupCGTTCACTCTTCTCAGTGCCCAGGAC GGGGCATCACGCGCCAGGACCCC		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	22/57						chr10	TogoVar
CFAP61_chr20_20047532_20365698	20296326	C C	CCCTTCCT others(42): Show CCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCTTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG02897.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0003 a0002c0009t0002 a0002c0009t0003	a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0003g0107 a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0003g0107	3	236	0.0127	49	c.321 others(68): Show c.3217-1839_3217-1838insCCTTCCCTCCTTCCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCTT		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP95_chr9_69815817_69911227	69901527	T T	TTTTATGG others(42): Show TTTTATGGCTGCATAGTGTTCCACGGTGTATATGCGCCACATTTTCTTAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	380	0.0026	49	c.508 others(66): Show c.508-4425_508-4377dupTTATGGCTGCATAGTGTTCCACGGTGTA TATGCGCCACATTTTCTTAAT		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFI_chr4_109735695_109806999	109753174	A A	AATATATA others(42): Show AATATATATTTATTATATAAATAAATATTATATAAATAAATATTTATAAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	354	0.0028	49	c.905 others(64): Show c.905-672_905-671insGTTATAAATATTTATTTATATAATATTTAT TTATATAATAAATATATAT		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12						chr4	TogoVar
CHCHD3_chr7_132779870_133087090	132983985	C C	CTCTCCCT others(42): Show CTCTCCCTCTCCCCCCTCTCCCTCTCCCCACGGTCTCCCTCTCCCCACGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp1 HG02976.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0136 a0001c0001t0001g0137	2	310	0.0065	49	c.252 others(66): Show c.252-8700_252-8699insCCGTGGGGAGAGGGAGACCGTGGGGAGA GGGAGAGGGGGGAGAGGGAGA		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7						chr7	TogoVar
CHRNA4_chr20_63338223_63366349	63364798	C C	CCCCCGCC others(42): Show CCCCCGCCCCCCACCCTGGGGGACACAACCAGGCCCTTGCAGACACCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01255.hp1 HG01934.hp1 others(4): Show HG01106.hp1 HG01255.hp1 HG01934.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0013 a0001c0001 a0001c0011 a0001c0013	a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 others(2): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0011t0006 a0001c0013t0012	a0001c0001t0006g0077 a0001c0001t0006g0100 a0001c0001t0006g0101 others(4): Show a0001c0001t0006g0077 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0012g0043 a0001c0001t0017g0015 a0001c0011t0006g0073 a0001c0013t0012g0078	7	168	0.0417	49	c.-36 others(60): Show c.-3634_-3633insCCTGGTGTCTGCAAGGGCCTGGTTGTGTCCCCCA GGGTGGGGGGCGGGG		CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding					3450		chr20	TogoVar
CIAPIN1_chr16_57423187_57452385	57431202	A A	AGGGGGGG others(42): Show AGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGG	frameshift_variant frameshift_variant	HIGH	NA19000.hp1 NA19000.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0172 a0005c0009t0001g0172	1	390	0.0026	49	c.694 others(56): Show c.694_695insCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCC CCCCCCCCCCC	p.Leu others(5): Show p.Leu232fs	CIAPIN1	ENSG00000005194.15	transcript	ENST00000394391.9	protein_coding	7/9	793/2021	694/939	232/312			chr16	TogoVar
CIR1_chr2_174343022_174400712	174354495	A A	AATTATAT others(42): Show AATTATATTATATATATCATATAATATATTTTATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	348	0.0029	49	c.485 others(66): Show c.485-2819_485-2771dupATATATTATATAATATATAAAATATATT ATATGATATATATAATATAAT		CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9						chr2	TogoVar
CLDN4_chr7_73825996_73837690	73836062	A A	ACCCCATC others(42): Show ACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCCACCAGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02738.hp1 HG03239.hp2 others(1): Show HG00140.hp2 HG02738.hp1 HG03239.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0001g0000 a0001c0001t0009g0000	4	372	0.0108	49	c.42 others(60): Show c.4231_*4232insCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCCACCAGCCG		CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding					3373		chr7	TogoVar
CLDN8_chr21_30209006_30221097	30210290	T T	TATATATA others(42): Show TATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	49	c.49 others(60): Show c.4957_*4958insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3715		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210422	T T	TATATATA others(42): Show TATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG02897.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0000 a0004c0004t0004g0000	3	466	0.0064	49	c.48 others(60): Show c.4825_*4826insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3583		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210469	T T	TATATATA others(42): Show TATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	466	0.0022	49	c.47 others(60): Show c.4778_*4779insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3536		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210574	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	466	0.0022	49	c.46 others(60): Show c.4673_*4674insCCTTGAATTAGAATTAGGGAGACTATATATATAT ATATATATATATATA		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3431		chr21	TogoVar
CLEC4G_chr19_7723957_7737110	7733923	C C	CAGTGAGC others(42): Show CAGTGAGCTGTAATTGTGCCCGCTGCACTCCAGCCTGTGACAGAGTGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 NA18960.hp1 HG02135.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	432	0.0046	49	c.-18 others(60): Show c.-1822_-1821insTCTCACTCTGTCACAGGCTGGAGTGCAGCGGGCA CAATTACAGCTCACT		CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding					1814		chr19	TogoVar
CLIC4_chr1_24740447_24849321	24833685	T T	TGGGCGGC others(42): Show TGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp2 HG02559.hp1 others(9): Show HG01099.hp2 HG01243.hp2 HG02559.hp1 HG02572.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03471.hp1 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0328 a0001c0001t0004g0330 a0001c0001t0004g0331 others(9): Show a0001c0001t0004g0328 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0336 a0001c0001t0004g0339 a0001c0001t0007g0329 a0001c0001t0007g0335 a0001c0001t0007g0337 a0001c0001t0007g0338	12	344	0.0349	49	c.416 others(66): Show c.416-6153_416-6152insCTGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGG		CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIP1_chr12_122266469_122427669	122357789	T T	TAGCCGCC others(42): Show TAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCGCCACCCGGCC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	234	0.0043	49	c.100 others(68): Show c.1006-2478_1006-2477insGGCCGGGTGGCGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCT		CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	5/25						chr12	TogoVar
CLUH_chr17_2684387_2716764	2691956	G G	GCCCCCGC others(42): Show GCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	420	0.0024	49	c.365 others(64): Show c.3654+47_3654+48insGCGGGGGCGGGGGCGGGGGCGGGGGCGGGG GCGGGGGCGGGGGCGGGGG		CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25						chr17	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAGAGAAAGAAGAAAGAGAAAGAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	414	0.0024	49	c.424 others(62): Show c.424-67_424-66insGAAAGAAAGAAAGAGAGAAAGAAGAAAGAGAA AGAAAGAAAAGAAAAAG		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9						chr18	TogoVar
CMTR2_chr16_71276392_71294402	71288975	T T	TTATAAAG others(42): Show TTATAAAGTCCAATTGCGTCCAGCTTCCTACCAGGCAGCTGGATCGGGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0013 a0004c0005t0013	a0004c0005t0013g0022 a0004c0005t0013g0022	1	437	0.0023	49	c.-79 others(62): Show c.-79-39_-79-38insCACCCGATCCAGCTGCCTGGTAGGAAGCTGGA CGCAATTGGACTTTATA		CMTR2	ENSG00000180917.18	transcript	ENST00000434935.7	protein_coding	1/2						chr16	TogoVar
CNBD1_chr8_86861415_87387859	87136914	T T	TATTTATA others(42): Show TATTTATATTCTATGTAAATTATATATATTTATATTCTATGTAAATTATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp2 HG02723.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0118 a0001c0001t0003g0134 a0001c0001t0001g0118 a0001c0001t0003g0134	2	152	0.0132	49	c.432 others(68): Show c.432-69079_432-69078insATTTATATTCTATGTAAATTATATAT ATTTATATTCTATGTAAATTATA		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10						chr8	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTCT others(42): Show TTCTTTCTTTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	360	0.0028	49	c.43 others(60): Show c.4376_*4377insGAAAGAAGGAAAGAAAGAAAGAAAGGAAAGAAAG AAAAAGAAAGAAAGA		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding					2552		chr16	TogoVar
CNIH4_chr1_224351879_224384452	224378516	A A	ACTGAGGC others(42): Show ACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG01167.hp2 HG03486.hp2 others(3): Show HG00609.hp1 HG01167.hp2 HG03486.hp2 NA18961.hp2 NA19002.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0028 a0001c0001t0053 a0001c0001t0012 a0001c0001t0028 a0001c0001t0053	a0001c0001t0012g0001 a0001c0001t0012g0102 a0001c0001t0028g0083 others(1): Show a0001c0001t0012g0001 a0001c0001t0012g0102 a0001c0001t0028g0083 a0001c0001t0053g0010	6	324	0.0185	49	c.30 others(60): Show c.3045_*3093dupCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACA TCTGAATGCTGAGGC		CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5				3094	INFO_REALIGN_3_PRIME	chr1	TogoVar
CNIH4_chr1_224351879_224384452	224382463	T T	TACCCGTC others(42): Show TACCCGTCTCTGCATAAAAAAACTTAAAAATAAAATTACCTGGAGTGTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	49	c.66 others(60): Show c.6641_*6642insACCCGTCTCTGCATAAAAAAACTTAAAAATAAAA TTACCTGGAGTGTTC		CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding					3012		chr1	TogoVar
CNNM4_chr2_96755902_96816874	96801507	G G	GAGAGACC others(42): Show GAGAGACCACACACAGAGATAGCACACACACAGAGAGACCACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	270	0.0037	49	c.194 others(68): Show c.1948+1908_1948+1956dupCAGAGACCACACACAGAGATAGCACA CACACAGAGAGACCACACACACA		CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP2_chr7_146111801_148425998	146535397	A A	AATATAAT others(42): Show AATATAATTATATAATTAATTATATATAATTAATTATATATAATAATTAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20129.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0023 a0001c0013t0003 a0001c0003t0023 a0001c0013t0003	a0001c0003t0023g0030 a0001c0013t0003g0039 a0001c0003t0023g0030 a0001c0013t0003g0039	2	40	0.0500	49	c.98- others(68): Show c.98-238874_98-238873insATATAATTATATAATTAATTATATAT AATTAATTATATATAATAATTAT		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23						chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146535397	A A	AATATAAT others(42): Show AATATAATTATATAATTAATTATATATAATTAATTATATATAATTATTAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02486.hp1 HG03139.hp2 HG00735.hp2 HG02486.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0019 a0001c0001 a0001c0011 a0001c0019	a0001c0001t0007 a0001c0011t0016 a0001c0019t0006 a0001c0001t0007 a0001c0011t0016 a0001c0019t0006	a0001c0001t0007g0020 a0001c0011t0016g0019 a0001c0019t0006g0015 a0001c0001t0007g0020 a0001c0011t0016g0019 a0001c0019t0006g0015	3	40	0.0750	49	c.98- others(68): Show c.98-238874_98-238873insATATAATTATATAATTAATTATATAT AATTAATTATATATAATTATTAT		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23						chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148392206	T T	TGGGACTA others(42): Show TGGGACTACAGGCACGCACCACCACACCCAGCTAATTTTTGTGTTTTTAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp2 HG02717.hp1 others(2): Show HG00735.hp2 HG01891.hp2 HG02717.hp1 HG02922.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0019 others(1): Show a0001c0001 a0001c0002 a0001c0019 a0002c0017	a0001c0001t0006 a0001c0001t0012 a0001c0002t0010 others(2): Show a0001c0001t0006 a0001c0001t0012 a0001c0002t0010 a0001c0019t0006 a0002c0017t0015	a0001c0001t0006g0009 a0001c0001t0012g0034 a0001c0002t0010g0002 others(2): Show a0001c0001t0006g0009 a0001c0001t0012g0034 a0001c0002t0010g0002 a0001c0019t0006g0015 a0002c0017t0015g0037	5	40	0.1250	49	c.371 others(68): Show c.3715+8319_3715+8367dupGGGACTACAGGCACGCACCACCACAC CCAGCTAATTTTTGTGTTTTTAG		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	22/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP5_chr2_124020287_124926219	124304464	G G	GGAATTAT others(42): Show GGAATTATATATATATATATATATATATATATAGGAATTATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01891.hp2 HG02886.hp1 others(2): Show HG01069.hp1 HG01891.hp2 HG02886.hp1 HG03098.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003	a0001c0001t0003g0006 a0001c0002t0001g0003 a0001c0002t0001g0007 others(2): Show a0001c0001t0003g0006 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0059 a0001c0002t0003g0004	5	64	0.0781	49	c.381 others(68): Show c.381+62073_381+62074insATTATATATATATATATATATATATA TATAGGAATTATATATATATAGA		CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL18A1_chr21_45400165_45518720	45405287	G G	GCTGCGGG others(42): Show GCTGCGGGGGTCCCGGGGGTCCCGGGGGTCGGCTGGGTCCTGCGGGGGTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18990.hp2 HG03654.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0250 a0001c0003t0001g0249 a0001c0001t0001g0250 a0001c0003t0001g0249	2	292	0.0069	49	c.11+ others(60): Show c.11+57_11+58insCCGGGGGTCCCGGGGGTCGGCTGGGTCCTGCGGG GGTCCTGCGGGGGTC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	1/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45405287	G G	GCTGCGGG others(42): Show GCTGCGGGGGTCGCGGGGGTCCCGGGGCTCGGCTGGGTCCTGCGGGGGTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0002 a0001c0030t0002	a0001c0030t0002g0285 a0001c0030t0002g0286 a0001c0030t0002g0285 a0001c0030t0002g0286	2	292	0.0069	49	c.11+ others(60): Show c.11+66_11+67insCCGGGGCTCGGCTGGGTCCTGCGGGGGTCCTGCG GGGGTCGCGGGGGTC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	1/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL20A1_chr20_63288186_63339806	63293029	T T	TCGTGCTG others(42): Show TCGTGCTGGGATCTTTGTGGTCCCCGTTCTTGGAGAGATGCCCGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	290	0.0035	49	c.-25 others(58): Show c.-257_-256insCGTGCTGGGATCTTTGTGGTCCCCGTTCTTGGAGAG ATGCCCGGGGCGG		COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding					156		chr20	TogoVar
COL23A1_chr5_178232618_178595393	178294413	T T	TCCCCAAA others(42): Show TCCCCAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp2 others(53): Show HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00621.hp2 HG01074.hp2 HG01106.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01928.hp1 HG01952.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp2 HG02258.hp2 HG02523.hp2 HG02572.hp2 HG02735.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03130.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18943.hp2 NA18945.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp2 NA18964.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0009 a0012	a0001c0001 a0001c0004 a0001c0021 others(8): Show a0001c0001 a0001c0004 a0001c0021 a0002c0002 a0002c0003 a0003c0007 a0005c0008 a0005c0015 a0006c0020 a0009c0016 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0004t0004 a0001c0021t0006 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0002c0003t0013 a0003c0007t0001 a0005c0008t0002 a0005c0015t0002 a0006c0020t0012 a0009c0016t0002 a0012c0012t0002	a0001c0001t0001g0076 a0001c0001t0002g0028 a0001c0001t0002g0048 others(53): Show a0001c0001t0001g0076 a0001c0001t0002g0028 a0001c0001t0002g0048 a0001c0001t0002g0148 a0001c0001t0002g0165 a0001c0001t0003g0027 a0001c0001t0003g0194 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0037 a0001c0001t0004g0043 a0001c0001t0004g0054 a0001c0001t0004g0065 a0001c0001t0004g0071 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0005g0113 a0001c0001t0005g0144 a0001c0001t0005g0147 a0001c0001t0005g0161 a0001c0004t0004g0110 a0001c0004t0004g0223 a0001c0021t0006g0234 a0002c0002t0001g0001 a0002c0002t0001g0015 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0033 a0002c0002t0001g0040 a0002c0002t0001g0051 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0086 a0002c0002t0001g0186 a0002c0002t0001g0191 a0002c0002t0001g0198 a0002c0002t0001g0219 a0002c0002t0002g0149 a0002c0003t0001g0004 a0002c0003t0013g0114 a0003c0007t0001g0013 a0003c0007t0001g0030 a0003c0007t0001g0154 a0005c0008t0002g0024 a0005c0008t0002g0053 a0005c0008t0002g0090 a0005c0008t0002g0091 a0005c0008t0002g0155 a0005c0008t0002g0187 a0005c0015t0002g0017 a0006c0020t0012g0085 a0009c0016t0002g0108 a0012c0012t0002g0162	56	236	0.2373	49	c.407 others(66): Show c.407-4045_407-4044insGAGGGAGCTCGGTAGTGATTTGGGGAGG GAGCTCGGTAGTGATTTGGGG		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28						chr5	TogoVar
COL26A1_chr7_101357875_101564024	101489702	T T	TCTTCTTT others(42): Show TCTTCTTTCTTCTTTTTCTTTCTTTCTTTTCGTTCTTCTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0025 a0001c0002t0003g0025	1	174	0.0058	49	c.385 others(68): Show c.385+41915_385+41916insCTTCTTTCTTCTTTTTCTTTCTTTCT TTTCGTTCTTCTTCTTTCTTCTC		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12						chr7	TogoVar
COL28A1_chr7_7352875_7540873	7374038	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	196	0.0051	49	c.236 others(66): Show c.2360-493_2360-492insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTT		COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	31/34						chr7	TogoVar
COL4A3_chr2_227159624_227319792	227193946	G G	GAAGGAAG others(42): Show GAAGGAAGGAAGGGGAGAGAAAGAGAAGGAGAGGAGAAGGAGAAGGGAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02258.hp1 others(1): Show HG01109.hp2 HG02055.hp1 HG02258.hp1 HG02965.hp2	a0003 a0006 a0003 a0006	a0003c0011 a0006c0010 a0003c0011 a0006c0010	a0003c0011t0001 a0003c0011t0003 a0006c0010t0006 a0003c0011t0001 a0003c0011t0003 a0006c0010t0006	a0003c0011t0001g0002 a0003c0011t0003g0010 a0003c0011t0003g0337 others(1): Show a0003c0011t0001g0002 a0003c0011t0003g0010 a0003c0011t0003g0337 a0006c0010t0006g0156	4	344	0.0116	49	c.87+ others(66): Show c.87+29133_87+29134insAAGGAAGGAAGGGGAGAGAAAGAGAAGG AGAGGAGAAGGAGAAGGGAAA		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51						chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0003 a0002c0027t0003	a0002c0027t0003g0342 a0002c0027t0003g0342	1	344	0.0029	49	c.546 others(64): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTT		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(42): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	344	0.0029	49	c.546 others(64): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTT		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(42): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 HG03491.hp2 HG00735.hp2 HG01192.hp2 HG03491.hp2	a0005 a0016 a0017 a0005 a0016 a0017	a0005c0005 a0016c0024 a0017c0019 a0005c0005 a0016c0024 a0017c0019	a0005c0005t0007 a0016c0024t0002 a0017c0019t0004 a0005c0005t0007 a0016c0024t0002 a0017c0019t0004	a0005c0005t0007g0249 a0016c0024t0002g0294 a0017c0019t0004g0181 a0005c0005t0007g0249 a0016c0024t0002g0294 a0017c0019t0004g0181	3	344	0.0087	49	c.546 others(64): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL6A6_chr3_130512177_130682042	130636863	T T	TCCCCTTC others(42): Show TCCCCTTCCTCCCCCCTTCCTCCCCTTCCCCTTCCTCCCCCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00642.hp1 others(42): Show HG00558.hp2 HG00597.hp1 HG00642.hp1 HG00673.hp2 HG01192.hp1 HG01257.hp1 HG01361.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02129.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp1 HG03579.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 NA18522.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18977.hp2 NA18979.hp1 NA19007.hp1 NA19007.hp2 NA19068.hp1 NA19240.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0016 a0020	a0001c0001 a0002c0002 a0003c0010 others(20): Show a0001c0001 a0002c0002 a0003c0010 a0003c0023 a0003c0027 a0003c0060 a0003c0071 a0004c0004 a0004c0029 a0005c0003 a0005c0059 a0006c0007 a0007c0017 a0007c0018 a0007c0040 a0007c0081 a0008c0034 a0009c0005 a0010c0038 a0011c0008 a0013c0028 a0016c0020 a0020c0025	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(32): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0022 a0003c0010t0003 a0003c0010t0004 a0003c0023t0007 a0003c0027t0004 a0003c0060t0001 a0003c0071t0004 a0004c0004t0002 a0004c0029t0004 a0005c0003t0001 a0005c0003t0006 a0005c0003t0011 a0005c0059t0030 a0006c0007t0001 a0006c0007t0003 a0006c0007t0005 a0007c0017t0004 a0007c0017t0006 a0007c0018t0009 a0007c0040t0004 a0007c0081t0013 a0008c0034t0004 a0009c0005t0006 a0009c0005t0008 a0010c0038t0002 a0011c0008t0001 a0013c0028t0004 a0013c0028t0011 a0016c0020t0008 a0020c0025t0002	a0001c0001t0001g0195 a0001c0001t0002g0163 a0002c0002t0001g0095 others(42): Show a0001c0001t0001g0195 a0001c0001t0002g0163 a0002c0002t0001g0095 a0002c0002t0004g0220 a0002c0002t0007g0201 a0002c0002t0022g0165 a0003c0010t0003g0006 a0003c0010t0003g0007 a0003c0010t0004g0222 a0003c0023t0007g0211 a0003c0027t0004g0213 a0003c0027t0004g0214 a0003c0060t0001g0150 a0003c0071t0004g0200 a0004c0004t0002g0026 a0004c0029t0004g0236 a0005c0003t0001g0157 a0005c0003t0006g0051 a0005c0003t0006g0088 a0005c0003t0006g0174 a0005c0003t0011g0237 a0005c0059t0030g0221 a0006c0007t0001g0191 a0006c0007t0003g0130 a0006c0007t0005g0052 a0007c0017t0004g0210 a0007c0017t0006g0078 a0007c0018t0009g0257 a0007c0040t0004g0234 a0007c0040t0004g0235 a0007c0081t0013g0080 a0008c0034t0004g0233 a0009c0005t0006g0068 a0009c0005t0006g0072 a0009c0005t0008g0167 a0009c0005t0008g0204 a0010c0038t0002g0077 a0011c0008t0001g0012 a0011c0008t0001g0125 a0011c0008t0001g0126 a0013c0028t0004g0199 a0013c0028t0011g0244 a0016c0020t0008g0145 a0020c0025t0002g0027 a0020c0025t0002g0028	45	264	0.1705	49	c.509 others(68): Show c.5091+1104_5091+1105insCCTTCCTCCCCCCTTCCTCCCCTTCC CCTTCCTCCCCCCTTCCTCCCCC		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(42): Show ATATTATATATATATATATATATATTATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0013	1	262	0.0038	49	c.-3- others(66): Show c.-3-16842_-3-16841insATTATATATATATATATATATATTATAT ATATATATATATATATATTTT		COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	438	0.0023	49	c.-11 others(60): Show c.-1118_-1117insAAAAAAAAATATATATATATATATATATATATAT ATATATATATATATA		COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding					1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	438	0.0023	49	c.-11 others(60): Show c.-1118_-1117insAAAAAAAAAAAAAAATATATATATATATATATAT ATATATATATATATA		COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding					1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	438	0.0023	49	c.-11 others(60): Show c.-1118_-1117insAAAAAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATA		COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding					1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG02523.hp1 HG01069.hp2 HG02523.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0004 a0002c0002 a0005c0004	a0002c0002t0001 a0005c0004t0003 a0002c0002t0001 a0005c0004t0003	a0002c0002t0001g0048 a0005c0004t0003g0088 a0002c0002t0001g0048 a0005c0004t0003g0088	2	438	0.0046	49	c.-11 others(60): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATATA		COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding					1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0004 a0003c0005t0001g0004	1	438	0.0023	49	c.-11 others(60): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATA		COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding					1029		chr1	TogoVar
COLEC11_chr2_3590112_3649644	3590524	G G	GGGCGGGG others(42): Show GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01069.hp1 others(31): Show HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01109.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01975.hp1 HG02083.hp1 HG02083.hp2 HG02148.hp1 HG02257.hp1 HG02300.hp1 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp2 NA18955.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0002 a0002c0006t0001	a0001c0001t0001g0012 a0001c0001t0001g0187 a0001c0001t0001g0188 others(29): Show a0001c0001t0001g0012 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0312 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0349 a0001c0001t0001g0355 a0002c0002t0001g0011 a0002c0002t0001g0324 a0002c0002t0001g0327 a0002c0002t0001g0341 a0002c0003t0001g0334 a0002c0004t0001g0317 a0002c0004t0001g0322 a0002c0004t0001g0326 a0002c0005t0002g0348 a0002c0006t0001g0329 a0002c0006t0001g0333	34	378	0.0900	49	c.-46 others(60): Show c.-4671_-4670insGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCA		COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding					4587		chr2	TogoVar
COLEC11_chr2_3590112_3649644	3590627	A A	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCAGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 NA20300.hp1 HG02258.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0206 a0002c0002t0001g0027 a0002c0002t0001g0206	2	378	0.0053	49	c.-45 others(60): Show c.-4568_-4567insCCTCCCGGACGGGGCAGCTGGCCAGGCGGGGGGC TGATCCCCCCACCTC		COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding					4484		chr2	TogoVar
COLEC11_chr2_3590112_3649644	3590627	A A	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGTCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01884.hp2 HG02109.hp1 others(8): Show HG01099.hp2 HG01884.hp2 HG02109.hp1 HG02630.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG06807.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(3): Show a0001c0001 a0002c0002 a0002c0004 a0002c0006 a0003c0009 a0003c0010	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0002c0006t0001 a0003c0009t0001 a0003c0010t0001	a0001c0001t0001g0068 a0001c0001t0001g0346 a0002c0002t0001g0313 others(8): Show a0001c0001t0001g0068 a0001c0001t0001g0346 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0316 a0002c0002t0001g0347 a0002c0004t0001g0286 a0002c0006t0001g0199 a0002c0006t0001g0315 a0003c0009t0001g0356 a0003c0010t0001g0357	11	378	0.0291	49	c.-45 others(60): Show c.-4568_-4567insCCTCCCGGACGGGGCGTCTGGCCAGGCGGGGGGC TGATCCCCCCACCTC		COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding					4484		chr2	TogoVar

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