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
CNTN4_chr3_2093866_3062959	2340710	T T	TATATATA others(31): Show TATATATATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0001 a0001c0001t0005 a0001c0004t0001	a0001c0001t0005g0098 a0001c0004t0001g0097 a0001c0001t0005g0098 a0001c0004t0001g0097	2	116	0.0172	38	c.-89 others(55): Show c.-89+1478_-89+1479insTATATATATATATATATATATATAGAGA GAGAGAGAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TATATGTA others(31): Show TATATGTAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	116	0.0086	38	c.-89 others(55): Show c.-89+1478_-89+1479insTATGTAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2400418	T T	TATATATA others(31): Show TATATATATATATACATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0003 a0007c0018t0003	a0007c0018t0003g0062 a0007c0018t0003g0062	1	116	0.0086	38	c.-89 others(57): Show c.-89+61194_-89+61195insTATACATATATATATATATATATATA TACATATATATA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99941571	A A	AACACACA others(31): Show AACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	66	0.0152	38	c.674 others(57): Show c.674-15220_674-15219insCACACACACACACACACACACACACA CACACACACACA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1158755	C C	CATATATA others(31): Show CATATATATACACACATATATATGTGTGTATATATGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp2 HG03195.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0177 a0001c0006t0001g0184 a0001c0003t0001g0177 a0001c0006t0001g0184	2	232	0.0086	38	c.55+ others(55): Show c.55+10715_55+10752dupGTGTGTATATATGTGTATATATATACAC ACATATATAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245308	A A	AACATATA others(31): Show AACATATATATATAACATATATATATAACATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00733.hp1 others(8): Show HG00140.hp2 HG00642.hp1 HG00733.hp1 HG01074.hp1 HG01261.hp2 HG02451.hp2 HG02738.hp1 HG03225.hp2 HG03669.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0002t0008 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0008 a0001c0003t0001 a0001c0004t0002 a0001c0007t0001	a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0001g0097 others(8): Show a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0002t0008g0221 a0001c0003t0001g0031 a0001c0003t0001g0118 a0001c0004t0002g0038 a0001c0004t0002g0039 a0001c0007t0001g0017 a0001c0007t0001g0052	11	232	0.0474	38	c.358 others(57): Show c.358+17315_358+17316insACATATATATATAACATATATATATA ACATATATATAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245308	A A	AACATATA others(31): Show AACATATATATATAACATATATATATAACATATATATGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03471.hp1 HG02258.hp2 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0159 a0001c0005t0001g0181 a0001c0005t0001g0159 a0001c0005t0001g0181	2	232	0.0086	38	c.358 others(57): Show c.358+17315_358+17316insACATATATATATAACATATATATATA ACATATATATGT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245310	A A	AACATATA others(31): Show AACATATATATATAACATATATATATAACATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0184 a0001c0006t0001g0184	1	232	0.0043	38	c.358 others(57): Show c.358+17317_358+17318insACATATATATATAACATATATATATA ACATATATATAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
CNTN6_chr3_1088024_1409217	1384750	C C	CATATATA others(31): Show CATATATATACATATATATACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0090 a0001c0004t0001g0090	1	232	0.0043	38	c.251 others(55): Show c.2518-849_2518-812dupTATATATACACATATATATATATATATA TATATATACA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146451857	A A	ACATACGT others(31): Show ACATACGTGTATATATATATACGTATATATACATACGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	40	0.0250	38	c.98- others(57): Show c.98-322414_98-322413insCATACGTGTATATATATATACGTATA TATACATACGTG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146721042	C C	CTATGTAT others(31): Show CTATGTATATACTCTATATATATTATATATACTCTATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG02630.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0003 a0001c0004t0005 a0001c0012t0004 a0001c0004t0003 a0001c0004t0005 a0001c0012t0004	a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0005g0004 others(1): Show a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0005g0004 a0001c0012t0004g0026	4	40	0.1000	38	c.98- others(55): Show c.98-53226_98-53225insGTATATACTCTATATATATTATATATAC TCTATATTAT	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(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0016 a0001c0011t0016	a0001c0011t0016g0019 a0001c0011t0016g0019	1	40	0.0250	38	c.98- others(55): Show c.98-52381_98-52380insATATATATATATATATATATATTTTTTT TTTTTTTTTT	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(31): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0025 a0001c0008t0001g0025	1	40	0.0250	38	c.98- others(55): Show c.98-52381_98-52380insATATATATATATATATATATTTTTTTTT TTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148301306	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	40	0.0250	38	c.347 others(59): Show c.3475+34181_3475+34182insAAAAAAAATATATATATATATATA TATATATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148301306	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0002 a0001c0002t0010g0002	1	40	0.0250	38	c.347 others(59): Show c.3475+34181_3475+34182insAATATATATATATATATATATATA TATATATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934112	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02738.hp2 HG02273.hp1 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0024 a0002c0002t0001 a0002c0002t0024	a0002c0002t0001g0041 a0002c0002t0024g0061 a0002c0002t0001g0041 a0002c0002t0024g0061	2	108	0.0185	38	c.223 others(57): Show c.2237+4131_2237+4132insGTGTGTGTATATATATATATATATAT ATATATATATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42090783	C C	CATATGTG others(31): Show CATATGTGTGTGTGTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0034 a0034	a0034c0038 a0034c0038	a0034c0038t0002 a0034c0038t0002	a0034c0038t0002g0016 a0034c0038t0002g0016	1	108	0.0093	38	c.197 others(57): Show c.197-13722_197-13721insATATATATATATATATATATATATAC ACACACACATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	2/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG04228.hp1 HG02809.hp2 HG04228.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0069 a0006c0009t0001g0258 a0001c0001t0001g0069 a0006c0009t0001g0258	2	274	0.0073	38	c.133 others(57): Show c.1334-1182_1334-1181insAAAAAAAAAAAAAATATATATATATA TATATATATATA	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(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	274	0.0037	38	c.133 others(57): Show c.1334-1182_1334-1181insAAAAAAAAAAAATATATATATATATA TATATATATATA	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(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0021 a0002c0002t0004g0021	1	274	0.0037	38	c.133 others(57): Show c.1334-1182_1334-1181insAAAAAAAAAATATATATATATATATA TATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470495	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0061 a0005c0008t0001g0061	1	274	0.0037	38	c.165 others(57): Show c.1655+2974_1655+2975insTATATATATATATATATATATATATA TATATATATTTA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124571527	C C	CTTTTTCT others(31): Show CTTTTTCTTTTTCTCTTTGTTTTCTTTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	64	0.0156	38	c.175 others(57): Show c.1756+8209_1756+8210insCTTTTTCTCTTTGTTTTCTTTTTTCT TTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124786523	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp1 HG02723.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0060 a0001c0002t0007g0009 a0001c0002t0002g0060 a0001c0002t0007g0009	2	64	0.0313	38	c.275 others(57): Show c.2753-3378_2753-3377insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AAGAGAGA others(31): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	384	0.0026	38	c.-38 others(57): Show c.-38-15452_-38-15451insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA6_chr1_234368456_234390080	234383064	G G	GAGGGAGG others(31): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	406	0.0025	38	c.373 others(53): Show c.373-654_373-653insGGGAGGGAGGGAGGGAGGGAGGGAAGGAAG GGAAGGGA	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COBLL1_chr2_164675188_164846823	164805332	T T	TATATAAA others(31): Show TATATAAATATATATACATATATAAATATATATGTATAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01261.hp1 HG02109.hp1 others(4): Show HG00735.hp1 HG01261.hp1 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02723.hp2 HG03139.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0001c0002 a0004c0032 others(1): Show a0001c0001 a0001c0002 a0004c0032 a0010c0027	a0001c0001t0018 a0001c0002t0002 a0001c0002t0058 others(3): Show a0001c0001t0018 a0001c0002t0002 a0001c0002t0058 a0001c0002t0060 a0004c0032t0001 a0010c0027t0010	a0001c0001t0018g0167 a0001c0001t0018g0168 a0001c0002t0002g0165 others(4): Show a0001c0001t0018g0167 a0001c0001t0018g0168 a0001c0002t0002g0165 a0001c0002t0058g0164 a0001c0002t0060g0162 a0004c0032t0001g0163 a0010c0027t0010g0166	7	212	0.0330	38	c.41+ others(55): Show c.41+35823_41+35824insTTATACATATATATTTATATATGTATAT ATATTTATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164818272	G G	GTATGTAT others(31): Show GTATGTATACATATATGTATGTATACATATGTATACATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0020 a0020	a0020c0026 a0020c0026	a0020c0026t0008 a0020c0026t0008	a0020c0026t0008g0033 a0020c0026t0008g0033	1	212	0.0047	38	c.41+ others(55): Show c.41+22846_41+22883dupTATGTATACATATGTATACATACATATA TGTATACATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51070392	A A	AACACACA others(31): Show AACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0002 a0014c0023t0002	a0014c0023t0002g0212 a0014c0023t0002g0212	1	230	0.0044	38	c.109 others(59): Show c.1096+14773_1096+14774insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02615.hp1 HG02630.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0007 a0002c0028t0001g0128 a0002c0028t0001g0007 a0002c0028t0001g0128	2	230	0.0087	38	c.958 others(57): Show c.958-12921_958-12920insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51170534	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0008 a0008c0013t0008	a0008c0013t0008g0110 a0008c0013t0008g0110	1	230	0.0044	38	c.783 others(57): Show c.783+13567_783+13568insTTATATATATATATATATATATATAT ATATATATATAT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	5/12			chr7	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATACTCCTTTATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	370	0.0027	38	c.128 others(57): Show c.1284+6660_1284+6661insATACTCCTTTATATATATATATATAT ATATATATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATTTAAATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03942.hp2 HG04199.hp2 HG02300.hp2 HG03942.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0163 a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0163	3	370	0.0081	38	c.128 others(57): Show c.1284+6660_1284+6661insATATATATTTAAATATATATATATAT ATATATATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATTTAAATATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0118 a0001c0001t0001g0119	2	370	0.0054	38	c.128 others(57): Show c.1284+6660_1284+6661insATATATTTAAATATATATATATATAT ATATATATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL11A1_chr1_102871473_103113522	103042974	G G	GTGAAATA others(31): Show GTGAAATATATATGATATATATTAAATACATCATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0058 a0001c0016t0004g0058	1	184	0.0054	38	c.652 others(57): Show c.652-11768_652-11731dupTATATATGATGTATTTAATATATATC ATATATATTTCA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66			chr1	TogoVar
COL13A1_chr10_69796906_69964144	69810376	G G	GAGAGAGA others(31): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGACACAGAGAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02735.hp2 HG02809.hp2 others(1): Show HG00738.hp2 HG02735.hp2 HG02809.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0003t0001	a0001c0001t0002g0115 a0001c0001t0009g0140 a0001c0002t0001g0156 others(1): Show a0001c0001t0002g0115 a0001c0001t0009g0140 a0001c0002t0001g0156 a0001c0003t0001g0146	4	324	0.0124	38	c.294 others(55): Show c.294+7664_294+7665insGAGAGAGAGAGAGAGAGAGAGAGACACA GAGACAGAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120348306	C C	CATATATA others(31): Show CATATATATATGTATATATATGAAGCATATATAAAGCAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03098.hp2 HG01109.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0005t0005 a0001c0001t0005 a0001c0005t0005	a0001c0001t0005g0022 a0001c0005t0005g0141 a0001c0001t0005g0022 a0001c0005t0005g0141	2	218	0.0092	38	c.507 others(57): Show c.5077+2753_5077+2754insGTATATATATGAAGCATATATAAAGC ATATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL17A1_chr10_104026286_104090880	104035851	C C	CGTATGGG others(31): Show CGTATGGGAGTGTGTGTATGGGAGTGTATGGGAGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp1 HG00741.hp2 others(55): Show HG00609.hp1 HG00738.hp1 HG00741.hp2 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01515.hp1 HG01884.hp1 HG01928.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02273.hp1 HG02273.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18939.hp2 NA18956.hp1 NA18967.hp2 NA18991.hp1 NA19004.hp2 NA19088.hp1 NA19091.hp1 NA20300.hp1	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0005 a0006 a0008 a0010 a0015 a0017 a0021 a0024 a0025 a0028	a0001c0001 a0001c0006 a0001c0026 others(14): Show a0001c0001 a0001c0006 a0001c0026 a0002c0002 a0004c0004 a0004c0032 a0005c0015 a0005c0036 a0006c0008 a0008c0017 a0010c0021 a0015c0030 a0017c0046 a0021c0051 a0024c0039 a0025c0040 a0028c0045	a0001c0001t0001 a0001c0006t0002 a0001c0006t0003 others(22): Show a0001c0001t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0004 a0001c0026t0004 a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0007 a0004c0032t0002 a0005c0015t0003 a0005c0036t0003 a0006c0008t0003 a0006c0008t0009 a0008c0017t0001 a0010c0021t0001 a0015c0030t0003 a0017c0046t0003 a0021c0051t0003 a0024c0039t0003 a0025c0040t0002 a0028c0045t0001	a0001c0001t0001g0064 a0001c0006t0002g0075 a0001c0006t0002g0092 others(54): Show a0001c0001t0001g0064 a0001c0006t0002g0075 a0001c0006t0002g0092 a0001c0006t0002g0123 a0001c0006t0003g0041 a0001c0006t0004g0094 a0001c0006t0004g0095 a0001c0026t0004g0149 a0002c0002t0002g0265 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0299 a0002c0002t0004g0261 a0002c0002t0004g0262 a0002c0002t0004g0263 a0002c0002t0004g0271 a0002c0002t0008g0209 a0004c0004t0001g0247 a0004c0004t0001g0249 a0004c0004t0002g0023 a0004c0004t0002g0211 a0004c0004t0002g0216 a0004c0004t0002g0219 a0004c0004t0002g0220 a0004c0004t0002g0222 a0004c0004t0002g0230 a0004c0004t0002g0235 a0004c0004t0002g0236 a0004c0004t0002g0241 a0004c0004t0002g0248 a0004c0004t0003g0215 a0004c0004t0003g0224 a0004c0004t0003g0228 a0004c0004t0003g0238 a0004c0004t0003g0239 a0004c0004t0007g0218 a0004c0032t0002g0226 a0005c0015t0003g0196 a0005c0015t0003g0197 a0005c0015t0003g0198 a0005c0036t0003g0157 a0006c0008t0003g0027 a0006c0008t0009g0298 a0008c0017t0001g0223 a0008c0017t0001g0227 a0008c0017t0001g0245 a0010c0021t0001g0251 a0010c0021t0001g0252 a0015c0030t0003g0237 a0017c0046t0003g0116 a0021c0051t0003g0069 a0024c0039t0003g0255 a0025c0040t0002g0287 a0028c0045t0001g0029	58	336	0.1726	38	c.341 others(55): Show c.3419-289_3419-288insACACACTCCCATACACTCCCATACACAC ACTCCCATAC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104035851	C C	CGTATGGG others(31): Show CGTATGGGAGTGTGTGTGTGGGAGTGTATGGGAGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(216): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0016 a0018 a0019 a0020 a0022 a0023 a0026 a0029	a0001c0001 a0001c0006 a0001c0014 others(37): Show a0001c0001 a0001c0006 a0001c0014 a0001c0024 a0001c0049 a0001c0050 a0001c0052 a0001c0057 a0001c0060 a0002c0002 a0002c0007 a0002c0018 a0002c0023 a0002c0031 a0003c0003 a0003c0020 a0003c0058 a0004c0004 a0004c0009 a0005c0005 a0006c0019 a0007c0011 a0007c0034 a0007c0038 a0008c0013 a0009c0012 a0010c0028 a0010c0029 a0012c0025 a0013c0027 a0013c0044 a0014c0022 a0016c0059 a0018c0055 a0019c0056 a0020c0054 a0022c0048 a0023c0047 a0026c0041 a0029c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0006t0003 a0001c0014t0001 a0001c0024t0001 a0001c0024t0006 a0001c0049t0001 a0001c0050t0001 a0001c0052t0001 a0001c0057t0001 a0001c0060t0001 a0002c0002t0003 a0002c0007t0001 a0002c0007t0003 a0002c0018t0001 a0002c0023t0001 a0002c0023t0004 a0002c0031t0006 a0003c0003t0001 a0003c0003t0002 a0003c0020t0001 a0003c0058t0001 a0004c0004t0003 a0004c0009t0001 a0004c0009t0002 a0005c0005t0001 a0006c0019t0001 a0007c0011t0001 a0007c0034t0001 a0007c0038t0001 a0008c0013t0001 a0009c0012t0001 a0010c0028t0001 a0010c0029t0004 a0012c0025t0001 a0013c0027t0003 a0013c0044t0003 a0014c0022t0001 a0016c0059t0001 a0018c0055t0001 a0019c0056t0001 a0020c0054t0001 a0022c0048t0001 a0023c0047t0001 a0026c0041t0001 a0029c0033t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(192): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0225 a0001c0001t0001g0244 a0001c0001t0002g0031 a0001c0001t0002g0057 a0001c0001t0002g0072 a0001c0001t0003g0038 a0001c0001t0010g0133 a0001c0006t0003g0044 a0001c0014t0001g0065 a0001c0014t0001g0090 a0001c0014t0001g0109 a0001c0014t0001g0134 a0001c0014t0001g0135 a0001c0014t0001g0136 a0001c0024t0001g0097 a0001c0024t0006g0096 a0001c0049t0001g0061 a0001c0050t0001g0098 a0001c0052t0001g0033 a0001c0057t0001g0122 a0001c0060t0001g0142 a0002c0002t0003g0274 a0002c0007t0001g0025 a0002c0007t0001g0026 a0002c0007t0001g0179 a0002c0007t0001g0180 a0002c0007t0001g0181 a0002c0007t0001g0259 a0002c0007t0001g0260 a0002c0007t0001g0276 a0002c0007t0003g0177 a0002c0018t0001g0167 a0002c0018t0001g0172 a0002c0018t0001g0186 a0002c0023t0001g0286 a0002c0023t0004g0030 a0002c0031t0006g0283 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0042 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0073 a0003c0003t0001g0076 a0003c0003t0001g0081 a0003c0003t0001g0084 a0003c0003t0001g0115 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0120 a0003c0003t0001g0124 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0145 a0003c0003t0001g0152 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0158 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0002g0079 a0003c0003t0002g0112 a0003c0020t0001g0043 a0003c0020t0001g0150 a0003c0058t0001g0126 a0004c0004t0003g0024 a0004c0009t0001g0022 a0004c0009t0001g0217 a0004c0009t0001g0221 a0004c0009t0001g0233 a0004c0009t0001g0234 a0004c0009t0001g0243 a0004c0009t0001g0246 a0004c0009t0002g0289 a0005c0005t0001g0005 a0005c0005t0001g0020 a0005c0005t0001g0021 a0005c0005t0001g0194 a0005c0005t0001g0199 a0005c0005t0001g0201 a0005c0005t0001g0202 a0005c0005t0001g0203 a0005c0005t0001g0204 a0005c0005t0001g0205 a0005c0005t0001g0206 a0005c0005t0001g0207 a0005c0005t0001g0240 a0006c0019t0001g0178 a0006c0019t0001g0185 a0006c0019t0001g0300 a0007c0011t0001g0019 a0007c0011t0001g0189 a0007c0011t0001g0190 a0007c0011t0001g0191 a0007c0011t0001g0192 a0007c0011t0001g0193 a0007c0011t0001g0200 a0007c0034t0001g0264 a0007c0038t0001g0188 a0008c0013t0001g0183 a0008c0013t0001g0212 a0008c0013t0001g0213 a0008c0013t0001g0229 a0008c0013t0001g0231 a0008c0013t0001g0232 a0009c0012t0001g0004 a0009c0012t0001g0032 a0009c0012t0001g0146 a0009c0012t0001g0147 a0009c0012t0001g0148 a0009c0012t0001g0288 a0010c0028t0001g0254 a0010c0029t0004g0253 a0012c0025t0001g0106 a0012c0025t0001g0107 a0013c0027t0003g0250 a0013c0044t0003g0290 a0014c0022t0001g0210 a0014c0022t0001g0214 a0016c0059t0001g0114 a0018c0055t0001g0195 a0019c0056t0001g0063 a0020c0054t0001g0105 a0022c0048t0001g0053 a0023c0047t0001g0156 a0026c0041t0001g0301 a0029c0033t0001g0242	219	336	0.6518	38	c.341 others(55): Show c.3419-289_3419-288insACACACTCCCATACACTCCCACACACAC ACTCCCATAC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL18A1_chr21_45400165_45518720	45437548	A A	ACACACAC others(31): Show ACACACACACTCACACTCAGACACACAGGCACTCTCCTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp2 HG00642.hp2 HG01192.hp2	a0001 a0029 a0001 a0029	a0001c0013 a0029c0071 a0001c0013 a0029c0071	a0001c0013t0014 a0029c0071t0002 a0001c0013t0014 a0029c0071t0002	a0001c0013t0014g0210 a0029c0071t0002g0134 a0001c0013t0014g0210 a0029c0071t0002g0134	2	292	0.0069	38	c.107 others(57): Show c.107-30685_107-30684insTCACACTCAGACACACAGGCACTCTC CTGCACACACAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437871	C C	CACAGGCA others(31): Show CACAGGCACTCTCCTGCACACACTCACACTCACACTCAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0021 a0021	a0021c0086 a0021c0086	a0021c0086t0002 a0021c0086t0002	a0021c0086t0002g0176 a0021c0086t0002g0176	1	292	0.0034	38	c.107 others(57): Show c.107-30368_107-30367insGGCACTCTCCTGCACACACTCACACT CACACTCAGACA	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL20A1_chr20_63288186_63339806	63290706	C C	CACCCACT others(31): Show CACCCACTCATCGCGCCTGCTGGCATTGCTGTCCCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	290	0.0035	38	c.-25 others(49): Show c.-2580_-2579insACCCACTCATCGCGCCTGCTGGCATTGCTGTCCC CCTG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding		2479		chr20	TogoVar
COL21A1_chr6_56051590_56252580	56098265	A A	ATAAATAT others(31): Show ATAAATATATAAATATATATAAATATATAAATACATATG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0071 a0002c0003t0003g0071	1	264	0.0038	38	c.181 others(57): Show c.1812+3169_1812+3206dupCATATGTATTTATATATTTATATATA TTTATATATTTA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098664	T T	TATAAATA others(31): Show TATAAATATATATATATATAAATATATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00609.hp1 others(12): Show HG00408.hp1 HG00544.hp1 HG00609.hp1 HG02165.hp1 HG02896.hp1 NA18747.hp1 NA18943.hp2 NA18957.hp1 NA18965.hp1 NA18968.hp1 NA19000.hp2 NA19003.hp1 NA19063.hp2 NA19065.hp1 NA19084.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0019 a0001c0001 a0010c0019	a0001c0001t0001 a0001c0001t0015 a0010c0019t0006 a0001c0001t0001 a0001c0001t0015 a0010c0019t0006	a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0001g0121 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0210 a0001c0001t0001g0221 a0001c0001t0001g0241 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0015g0083 a0010c0019t0006g0024	15	264	0.0568	38	c.181 others(57): Show c.1812+2807_1812+2808insTTATATATTTATATATATTTATATAT ATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098664	T T	TATAAATA others(31): Show TATAAATATATATATATATATATATATATAAATATATAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	264	0.0038	38	c.181 others(57): Show c.1812+2807_1812+2808insTTATATATTTATATATATATATATAT ATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178258236	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03471.hp2 HG03098.hp1 HG03471.hp2	a0002 a0011 a0002 a0011	a0002c0003 a0011c0013 a0002c0003 a0011c0013	a0002c0003t0003 a0011c0013t0005 a0002c0003t0003 a0011c0013t0005	a0002c0003t0003g0126 a0011c0013t0005g0132 a0002c0003t0003g0126 a0011c0013t0005g0132	2	236	0.0085	38	c.730 others(53): Show c.730-670_730-669insATATATATATATATATATATATATATATAT ATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	236	0.0042	38	c.730 others(53): Show c.730-696_730-695insGTGTGTATATATATATATATATATATATAT ATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0009 a0002c0022t0009	a0002c0022t0009g0233 a0002c0022t0009g0233	1	236	0.0042	38	c.730 others(53): Show c.730-696_730-695insGTGTATATATATATATATATATATATATAT ATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18990.hp1 HG01943.hp2 NA18990.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0001 a0003c0007t0001 a0002c0002t0001 a0003c0007t0001	a0002c0002t0001g0080 a0003c0007t0001g0044 a0002c0002t0001g0080 a0003c0007t0001g0044	2	236	0.0085	38	c.730 others(53): Show c.730-696_730-695insGTATATATATATATATATATATATATATAT ATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85997055	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0024 a0024	a0024c0026 a0024c0026	a0024c0026t0001 a0024c0026t0001	a0024c0026t0001g0046 a0024c0026t0001g0046	1	238	0.0042	38	c.231 others(57): Show c.2311-9402_2311-9401insTATATATATATATATATATATATACA CACACACACACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85997055	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18990.hp2 NA19066.hp1 others(1): Show HG02451.hp2 NA18990.hp2 NA19066.hp1 NA19074.hp2	a0008 a0044 a0048 a0008 a0044 a0048	a0008c0006 a0008c0049 a0044c0067 others(1): Show a0008c0006 a0008c0049 a0044c0067 a0048c0075	a0008c0006t0001 a0008c0049t0002 a0044c0067t0001 others(1): Show a0008c0006t0001 a0008c0049t0002 a0044c0067t0001 a0048c0075t0008	a0008c0006t0001g0034 a0008c0049t0002g0057 a0044c0067t0001g0175 others(1): Show a0008c0006t0001g0034 a0008c0049t0002g0057 a0044c0067t0001g0175 a0048c0075t0008g0217	4	238	0.0168	38	c.231 others(57): Show c.2311-9402_2311-9401insTATATATATATATATATATATACACA CACACACACACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar

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