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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNN2_chr19_1021608_1044065	1034236	A A	AGCGTGGG others(26): Show AGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG04204.hp1 HG03017.hp2 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0012 a0001c0002t0004 a0001c0002t0012	a0001c0002t0004g0250 a0001c0002t0012g0240 a0001c0002t0004g0250 a0001c0002t0012g0240	2	390	0.0051	33	c.390 others(50): Show c.390+1540_390+1541insGCGTGGGTGGGACGGTGTCTGGTGTAGA CCGGG	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6			chr19	TogoVar
CNNM4_chr2_96755902_96816874	96816399	A A	AGGGGGGG others(26): Show AGGGGGGGGGGAGGGGGGGGGGGGGGGAGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	270	0.0037	33	c.68 others(44): Show c.6882_*6883insGGGGGGGGGGAGGGGGGGGGGGGGGGAGGGGGG	CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding		4526		chr2	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02027.hp2 NA19054.hp1 HG01943.hp1 HG02027.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0131 a0001c0001t0001g0150 a0001c0001t0001g0114 a0001c0001t0001g0131 a0001c0001t0001g0150	3	354	0.0085	33	c.159 others(52): Show c.1596-4968_1596-4967insAAAAAAAAATATATATATATATATAT ATATATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	354	0.0028	33	c.159 others(52): Show c.1596-4968_1596-4967insAAAAAAATATATATATATATATATAT ATATATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	354	0.0028	33	c.159 others(52): Show c.1596-4968_1596-4967insAAAAATATATATATATATATATATAT ATATATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	354	0.0028	33	c.159 others(52): Show c.1596-4968_1596-4967insAAATATATATATATATATATATATAT ATATATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT3_chr19_54132762_54160681	54133919	A A	ACCTCCCC others(26): Show ACCTCCCCTCCCTCTCTCCACCTTCCCCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	223	0.0045	33	c.-41 others(44): Show c.-4125_-4124insCCTCCCCTCCCTCTCTCCACCTTCCCCTCTCTC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3842		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133923	C C	CCCCTCCC others(26): Show CCCCTCCCTCTCTCCACCTTCCCCCTCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	223	0.0045	33	c.-41 others(44): Show c.-4121_-4120insCCCTCCCTCTCTCCACCTTCCCCCTCTCTCCCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3838		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133959	T T	TCCCTCTC others(26): Show TCCCTCTCTCCACCTTCCCCTCTCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	223	0.0045	33	c.-40 others(44): Show c.-4085_-4084insCCCTCTCTCCACCTTCCCCTCTCTCCCTCCCTC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3802		chr19	TogoVar
CNOT4_chr7_135356795_135515102	135494195	C C	CGCAGTGG others(26): Show CGCAGTGGCTCACACCTGTAATCCCAGCACTTTG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	362	0.0028	33	c.-93 others(52): Show c.-93+15661_-93+15693dupCAAAGTGCTGGGATTACAGGTGTGAG CCACTGC	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT6L_chr4_77708387_77824368	77783875	T T	TTATTAAA others(26): Show TTATTAAATATATTAAATTTATTAAATATATTAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	328	0.0031	33	c.6-7 others(46): Show c.6-7516_6-7484dupTTAATATATTTAATAAATTTAATATATTTAAT A	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNPY1_chr7_155496129_155551559	155527057	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	426	0.0024	33	c.100 others(52): Show c.100-17961_100-17960insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAG	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNTLN_chr9_17130040_17508923	17202646	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0080 a0006c0007t0006g0080	1	218	0.0046	33	c.450 others(52): Show c.450-23533_450-23532insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTN1_chr12_40687439_41077415	40844069	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0207 a0001c0005t0002g0207	1	230	0.0044	33	c.-76 others(52): Show c.-76-64272_-76-64271insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN4_chr3_2093866_3062959	2340703	A A	AGAGAGAG others(26): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0017 a0008c0026t0017	a0008c0026t0017g0047 a0008c0026t0017g0047	1	116	0.0086	33	c.-89 others(50): Show c.-89+1470_-89+1471insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GGGGG	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24			chr3	TogoVar
CNTN5_chr11_99015949_100363885	99338923	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATCTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0013 a0006c0006t0013	a0006c0006t0013g0025 a0006c0006t0013g0025	1	66	0.0152	33	c.-71 others(52): Show c.-71+13463_-71+13464insATATCTGTGATATATATATATATATA TATATAT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99727322	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0057 a0003c0003t0007g0057	1	66	0.0152	33	c.56- others(50): Show c.56-92210_56-92209insAAAAAAAAAAAAAAAAAAAAGAAAAAAA AAAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100090499	T T	TTTCCTCC others(26): Show TTTCCTCCCTCCCTTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02976.hp1 HG01243.hp1 HG02976.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0004 a0003c0003t0007 a0002c0002t0004 a0003c0003t0007	a0002c0002t0004g0039 a0003c0003t0007g0034 a0002c0002t0004g0039 a0003c0003t0007g0034	2	66	0.0303	33	c.158 others(54): Show c.1580+16218_1580+16219insTCCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1245268	T T	TATAACAT others(26): Show TATAACATATATATATAACATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02622.hp1 others(3): Show HG02145.hp2 HG02280.hp2 HG02622.hp1 HG02723.hp2 HG03195.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0020	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0004 a0001c0020t0001	a0001c0001t0001g0198 a0001c0003t0001g0042 a0001c0005t0001g0203 others(3): Show a0001c0001t0001g0198 a0001c0003t0001g0042 a0001c0005t0001g0203 a0001c0006t0001g0036 a0001c0006t0004g0119 a0001c0020t0001g0151	6	232	0.0259	33	c.358 others(52): Show c.358+17278_358+17279insACATATATATATAACATATATATATA TAACATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245301	T T	TATATAAC others(26): Show TATATAACATATATATATAACATATATATATAAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0213 a0001c0006t0001g0213	1	232	0.0043	33	c.358 others(52): Show c.358+17313_358+17314insACATATATATATAACATATATATATA ACATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1311324	A A	ATACATAT others(26): Show ATACATATATGTACATATAAAATGTCTTTATATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00639.hp2 others(68): Show HG00423.hp1 HG00423.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02523.hp1 HG02602.hp1 HG02698.hp2 HG02717.hp1 HG03654.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18980.hp1 NA19002.hp2 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19084.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0024 a0007c0018	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(12): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0007t0001 a0001c0007t0002 a0001c0007t0006 a0001c0008t0001 a0001c0024t0001 a0007c0018t0001	a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0046 others(68): Show a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0126 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0094 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0121 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0160 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0005g0050 a0001c0002t0007g0059 a0001c0003t0001g0011 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0031 a0001c0003t0001g0064 a0001c0003t0001g0074 a0001c0003t0001g0092 a0001c0003t0001g0112 a0001c0003t0001g0118 a0001c0003t0001g0142 a0001c0003t0001g0154 a0001c0003t0001g0161 a0001c0003t0001g0172 a0001c0003t0001g0175 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0004t0001g0023 a0001c0004t0001g0041 a0001c0004t0001g0055 a0001c0004t0001g0072 a0001c0004t0001g0080 a0001c0004t0001g0089 a0001c0004t0001g0103 a0001c0004t0001g0128 a0001c0004t0001g0132 a0001c0005t0001g0004 a0001c0005t0001g0078 a0001c0005t0001g0113 a0001c0005t0001g0181 a0001c0005t0002g0019 a0001c0005t0002g0115 a0001c0006t0001g0028 a0001c0007t0001g0001 a0001c0007t0001g0014 a0001c0007t0001g0015 a0001c0007t0001g0155 a0001c0007t0002g0032 a0001c0007t0006g0170 a0001c0008t0001g0043 a0001c0008t0001g0075 a0001c0008t0001g0087 a0001c0008t0001g0120 a0001c0008t0001g0167 a0001c0008t0001g0169 a0001c0024t0001g0070 a0007c0018t0001g0148	71	232	0.3060	33	c.762 others(52): Show c.762-10140_762-10108dupATGTCTTTATATGTACATATATGTAC ATATAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1311407	T T	TAAAATGT others(26): Show TAAAATGTCTTTATATGTACATATATGTACATAG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0022 a0001c0004t0001g0022	1	232	0.0043	33	c.762 others(52): Show c.762-10211_762-10210insGAAAATGTCTTTATATGTACATATAT GTACATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1311535	C C	CATATAAA others(26): Show CATATAAAATGTCTTTATATGTACATATATGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02976.hp1 HG03471.hp1 others(3): Show HG02615.hp1 HG02976.hp1 HG03471.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0006 others(3): Show a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0002c0014 a0002c0017	a0001c0002t0009 a0001c0005t0001 a0001c0006t0001 others(3): Show a0001c0002t0009 a0001c0005t0001 a0001c0006t0001 a0001c0009t0001 a0002c0014t0001 a0002c0017t0001	a0001c0002t0009g0205 a0001c0005t0001g0159 a0001c0006t0001g0213 others(3): Show a0001c0002t0009g0205 a0001c0005t0001g0159 a0001c0006t0001g0213 a0001c0009t0001g0150 a0002c0014t0001g0232 a0002c0017t0001g0179	6	232	0.0259	33	c.762 others(52): Show c.762-10108_762-10107insATGTCTTTATATGTACATATATGTGT ATATAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1383887	A A	ATGGTAAC others(26): Show ATGGTAACTTCGAGGCCATTGCCATGGAAAGGGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02258.hp1 others(6): Show HG02055.hp1 HG02109.hp1 HG02258.hp1 HG03130.hp2 HG03225.hp1 HG03492.hp2 HG03669.hp1 HG03710.hp2 NA19043.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0009 a0001c0010 a0001c0013 others(3): Show a0001c0009 a0001c0010 a0001c0013 a0001c0025 a0003c0015 a0006c0027	a0001c0009t0001 a0001c0009t0003 a0001c0010t0001 others(4): Show a0001c0009t0001 a0001c0009t0003 a0001c0010t0001 a0001c0013t0001 a0001c0025t0001 a0003c0015t0001 a0006c0027t0001	a0001c0009t0001g0114 a0001c0009t0003g0051 a0001c0010t0001g0056 others(6): Show a0001c0009t0001g0114 a0001c0009t0003g0051 a0001c0010t0001g0056 a0001c0013t0001g0199 a0001c0013t0001g0208 a0001c0025t0001g0192 a0003c0015t0001g0007 a0003c0015t0001g0008 a0006c0027t0001g0191	9	232	0.0388	33	c.251 others(50): Show c.2517+489_2517+490insGAGGCCATTGCCATGGAAAGGGGTGGTA ACTTC	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146721889	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0005 a0005c0020t0005	a0005c0020t0005g0016 a0005c0020t0005g0016	1	40	0.0250	33	c.98- others(50): Show c.98-52381_98-52380insATATATATATATATATATATTTTTTTTT TTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146721889	A A	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	40	0.0250	33	c.98- others(50): Show c.98-52381_98-52380insATATATATATATATATATTTTTTTTTTT TTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147560168	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	40	0.0250	33	c.177 others(52): Show c.1778-1947_1778-1946insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147586543	A A	AAGGAAAG others(26): Show AAGGAAAGGAAGGAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp1 HG03225.hp2 HG02886.hp1 HG02922.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0018 a0001c0001 a0001c0003 a0001c0018	a0001c0001t0012 a0001c0003t0013 a0001c0018t0002 a0001c0001t0012 a0001c0003t0013 a0001c0018t0002	a0001c0001t0012g0034 a0001c0003t0013g0010 a0001c0018t0002g0012 a0001c0001t0012g0034 a0001c0003t0013g0010 a0001c0018t0002g0012	3	40	0.0750	33	c.189 others(54): Show c.1897+24289_1897+24290insAAAGGAAGGAAGGAAGGAAGGAAG GGAGGGAGG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148135973	G G	GAGGAAGG others(26): Show GAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02976.hp2 HG02451.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0020 a0001c0002t0001 a0001c0003t0020	a0001c0002t0001g0007 a0001c0003t0020g0017 a0001c0002t0001g0007 a0001c0003t0020g0017	2	40	0.0500	33	c.255 others(54): Show c.2555-11497_2555-11496insAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41979666	T T	TTTTTAAA others(26): Show TTTTTAAAAAATATTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02145.hp1 HG02486.hp1 others(1): Show HG02135.hp2 HG02145.hp1 HG02486.hp1 NA18974.hp2	a0002 a0032 a0002 a0032	a0002c0002 a0002c0015 a0002c0023 others(1): Show a0002c0002 a0002c0015 a0002c0023 a0032c0039	a0002c0002t0001 a0002c0015t0001 a0002c0023t0001 others(1): Show a0002c0002t0001 a0002c0015t0001 a0002c0023t0001 a0032c0039t0014	a0002c0002t0001g0052 a0002c0015t0001g0046 a0002c0023t0001g0054 others(1): Show a0002c0002t0001g0052 a0002c0015t0001g0046 a0002c0023t0001g0054 a0032c0039t0014g0025	4	108	0.0370	33	c.147 others(52): Show c.1477+6501_1477+6502insTATATATATATATATATAAAATATTT TTTAAAA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	9/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41979668	T T	TTTAAAAA others(26): Show TTTAAAAAATATTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00735.hp2 others(19): Show HG00140.hp2 HG00323.hp1 HG00735.hp2 HG01071.hp1 HG01081.hp1 HG01255.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG02273.hp1 HG02559.hp1 HG02572.hp1 HG02738.hp2 HG03041.hp1 HG03669.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 NA18949.hp1 NA18998.hp1 homoSapiens_chm13v2.hp1	a0002 a0012 a0014 others(2): Show a0002 a0012 a0014 a0015 a0016	a0002c0002 a0002c0010 a0002c0020 others(4): Show a0002c0002 a0002c0010 a0002c0020 a0012c0022 a0014c0018 a0015c0019 a0016c0017	a0002c0002t0001 a0002c0002t0012 a0002c0002t0022 others(7): Show a0002c0002t0001 a0002c0002t0012 a0002c0002t0022 a0002c0002t0024 a0002c0010t0001 a0002c0020t0001 a0012c0022t0001 a0014c0018t0001 a0015c0019t0001 a0016c0017t0001	a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0044 others(19): Show a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0056 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0012g0043 a0002c0002t0012g0051 a0002c0002t0022g0068 a0002c0002t0024g0061 a0002c0010t0001g0057 a0002c0010t0001g0058 a0002c0020t0001g0060 a0012c0022t0001g0055 a0014c0018t0001g0067 a0015c0019t0001g0066 a0016c0017t0001g0042	22	108	0.2037	33	c.147 others(52): Show c.1477+6499_1477+6500insTATATATATATATATATATAAAATAT TTTTTAA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	9/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41979668	T T	TTTTAAAA others(26): Show TTTTAAAAATATTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	108	0.0093	33	c.147 others(52): Show c.1477+6499_1477+6500insTATATATATATATATATATAAAATAT TTTTAAA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	9/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41979670	T T	TAAAAAAT others(26): Show TAAAAAATATTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03831.hp1 HG02109.hp2 HG03831.hp1	a0002 a0027 a0002 a0027	a0002c0002 a0027c0026 a0002c0002 a0027c0026	a0002c0002t0001 a0027c0026t0020 a0002c0002t0001 a0027c0026t0020	a0002c0002t0001g0049 a0027c0026t0020g0027 a0002c0002t0001g0049 a0027c0026t0020g0027	2	108	0.0185	33	c.147 others(52): Show c.1477+6497_1477+6498insTATATATATATATATATATATAAAAT ATTTTTT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	9/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41979670	T T	TTAAAAAT others(26): Show TTAAAAATATTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG02145.hp2 HG02486.hp2	a0001 a0006 a0001 a0006	a0001c0046 a0006c0007 a0001c0046 a0006c0007	a0001c0046t0016 a0006c0007t0011 a0001c0046t0016 a0006c0007t0011	a0001c0046t0016g0015 a0006c0007t0011g0017 a0001c0046t0016g0015 a0006c0007t0011g0017	2	108	0.0185	33	c.147 others(52): Show c.1477+6497_1477+6498insTATATATATATATATATATATAAAAT ATTTTTA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	9/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03942.hp1 NA19002.hp2 others(1): Show HG00673.hp2 HG03942.hp1 NA19002.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0018 a0002c0011 a0001c0001 a0001c0018 a0002c0011	a0001c0001t0001 a0001c0018t0001 a0002c0011t0004 a0001c0001t0001 a0001c0018t0001 a0002c0011t0004	a0001c0001t0001g0076 a0001c0018t0001g0106 a0001c0018t0001g0113 others(1): Show a0001c0001t0001g0076 a0001c0018t0001g0106 a0001c0018t0001g0113 a0002c0011t0004g0078	4	274	0.0146	33	c.133 others(52): Show c.1334-1182_1334-1181insAAAAAAAAAAAAAAATATATATATAT ATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0138 a0002c0002t0004g0138	1	274	0.0037	33	c.133 others(52): Show c.1334-1182_1334-1181insAAAAAAAAAAAAATATATATATATAT ATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA18612.hp2 HG01069.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0232 a0001c0001t0001g0147 a0001c0001t0001g0232	2	274	0.0073	33	c.133 others(52): Show c.1334-1182_1334-1181insAAAAAAAAAAATATATATATATATAT ATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01258.hp1 NA19091.hp1 HG01074.hp1 HG01258.hp1 NA19091.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0001 a0001c0001t0003 a0007c0013t0004 a0001c0001t0001 a0001c0001t0003 a0007c0013t0004	a0001c0001t0001g0092 a0001c0001t0003g0184 a0007c0013t0004g0035 a0001c0001t0001g0092 a0001c0001t0003g0184 a0007c0013t0004g0035	3	274	0.0110	33	c.133 others(52): Show c.1334-1182_1334-1181insAAAAAAAAATATATATATATATATAT ATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124706795	A A	AAGAAGAA others(26): Show AAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	64	0.0156	33	c.207 others(54): Show c.2078-40432_2078-40431insAAGAAGAAGAAGAAGAAGAAGGAG GAGGAGGAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL16A1_chr1_31647263_31709017	31707385	T T	TTTTCTTT others(26): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0042 a0002c0009t0002g0042	1	342	0.0029	33	c.-35 others(44): Show c.-3584_-3583insGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3369		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45483866	A A	ACACACAC others(26): Show ACACACACACACCTCTCCAGCATATGTACACATG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03195.hp1 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0062 a0001c0037t0001g0157 a0001c0037t0001g0062 a0001c0037t0001g0157	2	292	0.0069	33	c.170 others(52): Show c.1701+1088_1701+1120dupACCTCTCCAGCATATGTACACATGCA CACACAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45483932	G G	GCACACAC others(26): Show GCACACACACCTCTCCAGCATATGTACACATGCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG01167.hp1 others(7): Show HG00639.hp2 HG00733.hp2 HG01167.hp1 HG02280.hp2 HG02895.hp2 HG03239.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp1 NA19240.hp2	a0002 a0003 a0021 others(3): Show a0002 a0003 a0021 a0022 a0023 a0024	a0002c0012 a0002c0067 a0002c0083 others(7): Show a0002c0012 a0002c0067 a0002c0083 a0002c0084 a0002c0103 a0003c0046 a0021c0086 a0022c0068 a0023c0085 a0024c0066	a0002c0012t0004 a0002c0067t0001 a0002c0083t0001 others(7): Show a0002c0012t0004 a0002c0067t0001 a0002c0083t0001 a0002c0084t0002 a0002c0103t0001 a0003c0046t0001 a0021c0086t0002 a0022c0068t0010 a0023c0085t0002 a0024c0066t0010	a0002c0012t0004g0058 a0002c0067t0001g0041 a0002c0083t0001g0237 others(7): Show a0002c0012t0004g0058 a0002c0067t0001g0041 a0002c0083t0001g0237 a0002c0084t0002g0212 a0002c0103t0001g0136 a0003c0046t0001g0002 a0021c0086t0002g0176 a0022c0068t0010g0004 a0023c0085t0002g0106 a0024c0066t0010g0066	10	292	0.0343	33	c.170 others(52): Show c.1701+1152_1701+1184dupACCTCTCCAGCATATGTACACATGCA CACACAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	70027635	A A	AAATGCAT others(26): Show AAATGCATGCTCATATGTCCATTCTAGTTTAAAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03195.hp1 HG03195.hp2 others(1): Show HG02809.hp1 HG03195.hp1 HG03195.hp2 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0009 a0002c0003 a0002c0004 a0002c0009	a0002c0003t0018 a0002c0004t0012 a0002c0009t0004 a0002c0003t0018 a0002c0004t0012 a0002c0009t0004	a0002c0003t0018g0138 a0002c0004t0012g0159 a0002c0009t0004g0067 others(1): Show a0002c0003t0018g0138 a0002c0004t0012g0159 a0002c0009t0004g0067 a0002c0009t0004g0128	4	182	0.0220	33	c.108 others(52): Show c.1080+3963_1080+3995dupGCTCATATGTCCATTCTAGTTTAAAT AATGCAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	12/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL21A1_chr6_56051590_56252580	56087770	A A	ATAAACTT others(26): Show ATAAACTTCGTTAGCTTTCTTTCTTACTTCTTAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0169 a0001c0002t0002g0169	1	264	0.0038	33	c.181 others(54): Show c.1813-10198_1813-10197insGTAAGAAGTAAGAAAGAAAGCTAA CGAAGTTTA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178232851	A A	AGGCCCCG others(26): Show AGGCCCCGCCCCGCAGGCCCCGCCCCGCAGGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0072	1	236	0.0042	33	c.58 others(44): Show c.5846_*5847insGGGCCTGCGGGGCGGGGCCTGCGGGGCGGGGCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding		4766		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178547952	A A	ACCCACAC others(26): Show ACCCACACACCTACACCCACATACCCACACCCAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG01928.hp1 others(12): Show HG00639.hp1 HG01884.hp2 HG01928.hp1 HG02015.hp1 HG02145.hp2 HG02735.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 NA18951.hp2 NA19063.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0001 a0001c0004 a0002c0002 others(5): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0003c0005 a0003c0023 a0004c0006 a0013c0010	a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0003 a0003c0005t0003 a0003c0023t0010 a0004c0006t0003 a0013c0010t0002	a0001c0001t0002g0028 a0001c0001t0004g0203 a0001c0004t0001g0178 others(12): Show a0001c0001t0002g0028 a0001c0001t0004g0203 a0001c0004t0001g0178 a0001c0004t0001g0179 a0002c0002t0001g0001 a0002c0002t0001g0032 a0002c0002t0001g0181 a0002c0003t0001g0036 a0002c0003t0003g0158 a0003c0005t0003g0125 a0003c0023t0010g0236 a0004c0006t0003g0128 a0004c0006t0003g0167 a0004c0006t0003g0172 a0013c0010t0002g0117	15	236	0.0636	33	c.361 others(52): Show c.361+12697_361+12729dupGTGGGTGTGGGTATGTGGGTGTAGGT GTGTGGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101510027	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0065 a0002c0003t0001g0065	1	174	0.0058	33	c.386 others(52): Show c.386-23041_386-23040insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A1_chr13_110143963_110312157	110201363	G G	GGAGGAGG others(26): Show GGAGGAGGAGGAGGAAGAGGACGAGGAGGAGGAA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0001 a0001c0065t0001	a0001c0065t0001g0023 a0001c0065t0001g0023	1	344	0.0029	33	c.108 others(48): Show c.1084+74_1084+75insTTCCTCCTCCTCGTCCTCTTCCTCCTCCTC CTC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	19/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110252788	A A	AGTATGTA others(26): Show AGTATGTATTACATATACAGATAACTATAAGTAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG00741.hp2 others(40): Show HG00323.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01361.hp2 HG02071.hp1 HG02135.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp2 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG06807.hp1 HG06807.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18984.hp1 NA18992.hp2 NA19056.hp1 NA19058.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0009	a0001c0001 a0001c0003 a0001c0007 others(30): Show a0001c0001 a0001c0003 a0001c0007 a0001c0016 a0001c0020 a0001c0037 a0001c0052 a0001c0066 a0001c0072 a0002c0002 a0002c0004 a0002c0011 a0002c0018 a0002c0024 a0002c0029 a0002c0031 a0002c0047 a0002c0092 a0002c0096 a0002c0100 a0002c0104 a0002c0110 a0003c0008 a0003c0027 a0003c0041 a0003c0049 a0003c0099 a0004c0005 a0004c0017 a0004c0021 a0004c0022 a0005c0034 a0009c0113	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 others(32): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0001c0016t0003 a0001c0020t0005 a0001c0037t0001 a0001c0052t0001 a0001c0066t0001 a0001c0072t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0001 a0002c0011t0001 a0002c0018t0001 a0002c0024t0002 a0002c0029t0003 a0002c0031t0001 a0002c0047t0002 a0002c0092t0002 a0002c0096t0001 a0002c0100t0001 a0002c0104t0001 a0002c0110t0003 a0003c0008t0003 a0003c0027t0001 a0003c0041t0002 a0003c0049t0001 a0003c0099t0003 a0004c0005t0001 a0004c0017t0001 a0004c0021t0001 a0004c0022t0001 a0005c0034t0001 a0009c0113t0003	a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0001t0001g0125 others(40): Show a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0001t0001g0125 a0001c0003t0001g0154 a0001c0007t0001g0065 a0001c0016t0003g0006 a0001c0020t0005g0123 a0001c0037t0001g0134 a0001c0052t0001g0149 a0001c0066t0001g0151 a0001c0072t0001g0141 a0002c0002t0001g0175 a0002c0002t0001g0185 a0002c0002t0001g0220 a0002c0002t0002g0297 a0002c0002t0003g0195 a0002c0004t0001g0260 a0002c0011t0001g0213 a0002c0018t0001g0176 a0002c0024t0002g0281 a0002c0029t0003g0258 a0002c0031t0001g0194 a0002c0047t0002g0337 a0002c0047t0002g0338 a0002c0092t0002g0341 a0002c0096t0001g0259 a0002c0100t0001g0177 a0002c0104t0001g0178 a0002c0110t0003g0257 a0003c0008t0003g0233 a0003c0027t0001g0261 a0003c0041t0002g0300 a0003c0049t0001g0262 a0003c0099t0003g0232 a0004c0005t0001g0031 a0004c0005t0001g0056 a0004c0017t0001g0004 a0004c0021t0001g0053 a0004c0021t0001g0063 a0004c0022t0001g0048 a0004c0022t0001g0148 a0005c0034t0001g0165 a0009c0113t0003g0263	43	344	0.1250	33	c.85- others(50): Show c.85-10087_85-10055dupGTACTTATAGTTATCTGTATATGTAATA CATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253081	A A	AGTACGTA others(26): Show AGTACGTATGTATTACATATACATATAACTATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01928.hp2 HG01952.hp2 others(3): Show HG00639.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG04228.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0036 a0002c0011 a0002c0015 others(2): Show a0001c0036 a0002c0011 a0002c0015 a0003c0046 a0003c0094	a0001c0036t0003 a0002c0011t0002 a0002c0015t0013 others(2): Show a0001c0036t0003 a0002c0011t0002 a0002c0015t0013 a0003c0046t0001 a0003c0094t0002	a0001c0036t0003g0061 a0002c0011t0002g0309 a0002c0011t0002g0310 others(3): Show a0001c0036t0003g0061 a0002c0011t0002g0309 a0002c0011t0002g0310 a0002c0015t0013g0312 a0003c0046t0001g0222 a0003c0094t0002g0311	6	344	0.0174	33	c.85- others(50): Show c.85-10380_85-10348dupATATAGTTATATGTATATGTAATACATA CGTAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar

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