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
CNOT3_chr19_54132762_54160681	54133829	C C	CTCCCTCC others(39): Show CTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 homoSapiens_chm13v2.hp1 HG02723.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0006 a0001c0001t0001g0003 a0001c0002t0001g0006	2	223	0.0090	46	c.-42 others(57): Show c.-4215_-4214insTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCT CCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0003 a0007c0018t0003	a0007c0018t0003g0062 a0007c0018t0003g0062	1	116	0.0086	46	c.-89 others(63): Show c.-89+1478_-89+1479insTATATATATATATATATATATATATATA TATAGAGAGAGAGAGAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2881554	A A	AAGTGAGT others(39): Show AAGTGAGTGAAATCATTTCTCTTTGTGATTGCACCTGTCCCCCATCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02683.hp2 HG03209.hp2 HG00639.hp2 HG02683.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0005t0006 a0001c0003t0001 a0001c0003t0002 a0001c0005t0006	a0001c0003t0001g0094 a0001c0003t0002g0061 a0001c0005t0006g0032 a0001c0003t0001g0094 a0001c0003t0002g0061 a0001c0005t0006g0032	3	116	0.0259	46	c.653 others(63): Show c.653-1359_653-1314dupGTGAGTGAAATCATTTCTCTTTGTGATT GCACCTGTCCCCCATCCA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99077196	A A	ATATAGGT others(39): Show ATATAGGTAACATGTTAGAAAATGTAACATATAACATAACAGGTAAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA20300.hp1 HG01081.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0048 a0001c0001t0010g0047 a0001c0001t0005g0048 a0001c0001t0010g0047	2	66	0.0303	46	c.-21 others(67): Show c.-210+55926_-210+55927insTATAGGTAACATGTTAGAAAATGT AACATATAACATAACAGGTAAC	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24			chr11	TogoVar
CNTNAP2_chr7_146111801_148425998	146721889	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0022 a0001c0005t0022	a0001c0005t0022g0032 a0001c0005t0022g0032	1	40	0.0250	46	c.98- others(63): Show c.98-52381_98-52380insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934112	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	108	0.0093	46	c.223 others(65): Show c.2237+4131_2237+4132insGTGTGTGTATATATATATATATATAT ATATATATATATATATATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42090783	C C	CATATGTG others(39): Show CATATGTGTGTGTGTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01516.hp2 HG02040.hp2 others(4): Show HG01175.hp1 HG01516.hp2 HG02040.hp2 HG02083.hp1 HG03942.hp2 NA18970.hp2 NA20905.hp2	a0001 a0006 a0010 others(2): Show a0001 a0006 a0010 a0031 a0033	a0001c0001 a0006c0041 a0010c0013 others(2): Show a0001c0001 a0006c0041 a0010c0013 a0031c0044 a0033c0036	a0001c0001t0002 a0001c0001t0003 a0006c0041t0002 others(3): Show a0001c0001t0002 a0001c0001t0003 a0006c0041t0002 a0010c0013t0003 a0031c0044t0009 a0033c0036t0007	a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0003g0099 others(4): Show a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0003g0099 a0006c0041t0002g0020 a0010c0013t0003g0103 a0031c0044t0009g0094 a0033c0036t0007g0010	7	108	0.0648	46	c.197 others(65): Show c.197-13722_197-13721insATATATATATATATATATATATATAT ATATATACACACACACATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	2/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42090783	C C	CATATGTG others(39): Show CATATGTGTGTGTGTGTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0016 a0001c0046t0016	a0001c0046t0016g0015 a0001c0046t0016g0015	1	108	0.0093	46	c.197 others(65): Show c.197-13722_197-13721insATATATATATATATATATATATATAT ATATACACACACACACATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	2/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0202 a0001c0001t0005g0202	1	274	0.0037	46	c.133 others(65): Show c.1334-1182_1334-1181insAAAAAAAAAAAATATATATATATATA TATATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470482	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03540.hp1 NA18522.hp2 others(1): Show HG00621.hp2 HG03540.hp1 NA18522.hp2 NA21309.hp1	a0001 a0003 a0025 others(1): Show a0001 a0003 a0025 a0026	a0001c0004 a0003c0003 a0025c0039 others(1): Show a0001c0004 a0003c0003 a0025c0039 a0026c0041	a0001c0004t0003 a0003c0003t0018 a0025c0039t0001 others(1): Show a0001c0004t0003 a0003c0003t0018 a0025c0039t0001 a0026c0041t0004	a0001c0004t0003g0213 a0003c0003t0018g0164 a0025c0039t0001g0168 others(1): Show a0001c0004t0003g0213 a0003c0003t0018g0164 a0025c0039t0001g0168 a0026c0041t0004g0193	4	274	0.0146	46	c.165 others(65): Show c.1655+2974_1655+2975insTATATATATATATATATATATATATA TATATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124510301	C C	CTATATAT others(39): Show CTATATATATATATCTATATATCTATATATATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	64	0.0156	46	c.132 others(65): Show c.1327+5756_1327+5757insATCTATATATCTATATATATATATCT ATATATCTATATATATATAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124510301	C C	CTATATCT others(39): Show CTATATCTATATATCTATATATCTATATATATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	64	0.0156	46	c.132 others(65): Show c.1327+5750_1327+5751insCTATATATCTATATATCTATATATAT ATATCTATATATCTATATAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124510307	A A	ATATATAT others(39): Show ATATATATCTATATATCTATATATCTATATATATATATCTATATATC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03139.hp2 HG02145.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0033 a0001c0001t0009g0061 a0001c0001t0001g0033 a0001c0001t0009g0061	2	64	0.0313	46	c.132 others(65): Show c.1327+5756_1327+5757insATCTATATATCTATATATCTATATAT ATATATCTATATATCTATAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124571527	C C	CTTTTTCT others(39): Show CTTTTTCTTTTTCTCTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0006 a0006	a0006c0003 a0006c0003	a0006c0003t0008 a0006c0003t0008	a0006c0003t0008g0035 a0006c0003t0008g0035	1	64	0.0156	46	c.175 others(65): Show c.1756+8209_1756+8210insCTTTTTCTCTTTTTTTTCTTTTTTCT TTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124703205	T T	TCCTTCTT others(39): Show TCCTTCTTTCCTTCCTTCTCCCTTTCTTTCTTCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02897.hp1 HG03098.hp1 others(1): Show HG02886.hp2 HG02897.hp1 HG03098.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0007g0039 a0001c0001t0009g0061 others(1): Show a0001c0001t0001g0002 a0001c0001t0007g0039 a0001c0001t0009g0061 a0001c0002t0001g0063	4	64	0.0625	46	c.207 others(67): Show c.2078-44023_2078-44022insCTTCTTTCCTTCCTTCTCCCTTTC TTTCTTCTTCCTTCCTTCCTCC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124786523	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0038 a0002c0008t0001g0038	1	64	0.0156	46	c.275 others(65): Show c.2753-3378_2753-3377insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA6_chr1_234368456_234390080	234383064	G G	GAGGGAGG others(39): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	406	0.0025	46	c.373 others(61): Show c.373-654_373-653insGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAAGGAAGGGAAGGGA	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COBLL1_chr2_164675188_164846823	164805330	T T	TATATATA others(39): Show TATATATATTTATATATATATATATATATTTATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0005 a0001c0002t0049g0005	1	212	0.0047	46	c.41+ others(63): Show c.41+35825_41+35826insTTATATATATATATATAAATATATATAT ATATATATAAATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COG4_chr16_70475571_70528554	70483273	C C	CTCATCTC others(39): Show CTCATCTCCCCACCCCTTCCCTCTCTCCTCTCCCCACCGCATCCCCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02258.hp1 HG02572.hp2 others(8): Show HG01433.hp2 HG02258.hp1 HG02572.hp2 HG02647.hp1 HG02922.hp1 HG02970.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0033 a0001c0002t0001g0072 a0001c0002t0001g0125 others(8): Show a0001c0002t0001g0033 a0001c0002t0001g0072 a0001c0002t0001g0125 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0003t0001g0067 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0133 a0001c0003t0001g0135 a0001c0003t0001g0136	11	354	0.0311	46	c.182 others(63): Show c.1828-453_1828-452insAGGGGATGCGGTGGGGAGAGGAGAGAGG GAAGGGGTGGGGAGATGA	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	14/18			chr16	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATTTAAATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18988.hp2 HG06807.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0103 a0001c0001t0004g0124 a0001c0001t0001g0103 a0001c0001t0004g0124	2	370	0.0054	46	c.128 others(65): Show c.1284+6660_1284+6661insATATATATATATATTTAAATATATAT ATATATATATATATATATAT	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(39): Show TTATATATATATATATATATATATATATATATATATTTAAATATATA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19080.hp1 NA18977.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0090 a0001c0001t0001g0096	2	370	0.0054	46	c.128 others(65): Show c.1284+6660_1284+6661insATATATATATATTTAAATATATATAT ATATATATATATATATATAT	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(39): Show TTATATATATATATATATATATATATATATATATTTAAATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp2 HG03225.hp2 HG00323.hp1 HG01069.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0018 a0001c0001t0001g0155 a0001c0001t0015g0202 a0001c0001t0001g0018 a0001c0001t0001g0155 a0001c0001t0015g0202	3	370	0.0081	46	c.128 others(65): Show c.1284+6660_1284+6661insATATATATATTTAAATATATATATAT ATATATATATATATATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG7_chr16_23383493_23458189	23408132	G G	GGGCGGGA others(39): Show GGGCGGGAGGCAGGGGGCGAGTGGGGCGGGAGGCAGGGGGCGAGTGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03139.hp1 HG03041.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0192 a0001c0001t0001g0177 a0001c0001t0001g0192	2	272	0.0074	46	c.147 others(65): Show c.1476-1871_1476-1870insACACTCGCCCCCTGCCTCCCGCCCCA CTCGCCCCCTGCCTCCCGCC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COL13A1_chr10_69796906_69964144	69810376	G G	GAGAGAGA others(39): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACACACAGAGAC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	324	0.0031	46	c.294 others(63): Show c.294+7664_294+7665insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GACACACAGAGACAGAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69810376	G G	GAGAGAGA others(39): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACACAGAGAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01975.hp1 others(5): Show HG00642.hp2 HG00741.hp2 HG01975.hp1 HG04228.hp1 NA18612.hp2 NA18957.hp2 NA19009.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0001t0001 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0122 others(5): Show a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0002t0001g0157 a0001c0003t0002g0121 a0001c0003t0002g0145	8	324	0.0247	46	c.294 others(63): Show c.294+7664_294+7665insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGACACAGAGACAGAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120200046	A A	AAAGCATA others(39): Show AAAGCATATATATATATATATATATATATATAAGCATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19043.hp1 HG03225.hp2 NA19043.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0201 a0002c0017t0002g0202 a0002c0017t0002g0201 a0002c0017t0002g0202	2	218	0.0092	46	c.877 others(61): Show c.877+497_877+498insTATATATATATATAAGCATATATATATATA AGCATATATATATATA	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120200046	A A	AAAGCATA others(39): Show AAAGCATATATATATATATATATATATATATATAAGCATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03139.hp2 HG00639.hp1 HG03139.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0006 a0002c0006t0002 a0002c0006t0006	a0002c0006t0002g0033 a0002c0006t0006g0212 a0002c0006t0002g0033 a0002c0006t0006g0212	2	218	0.0092	46	c.877 others(61): Show c.877+497_877+498insTATATATATATATATAAGCATATATATATA AGCATATATATATATA	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120200046	A A	AAAGCATA others(39): Show AAAGCATATATATATATATATATATATATATATAAGCATATATATGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG04204.hp2 HG01106.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0103 a0001c0001t0003g0027 a0001c0001t0001g0103 a0001c0001t0003g0027	2	218	0.0092	46	c.877 others(61): Show c.877+497_877+498insTATATATATATATATAAGCATATATATGTA AGCATATATATATATA	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL18A1_chr21_45400165_45518720	45405287	G G	GCTGCGGG others(39): Show GCTGCGGGGCTGCGGGGGTCCCGGGGGTCCCGGGGGTCGGCTGGGTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03540.hp1 NA19060.hp1 HG01243.hp1 HG03540.hp1 NA19060.hp1	a0001 a0001	a0001c0004 a0001c0054 a0001c0074 a0001c0004 a0001c0054 a0001c0074	a0001c0004t0001 a0001c0054t0002 a0001c0074t0004 a0001c0004t0001 a0001c0054t0002 a0001c0074t0004	a0001c0004t0001g0032 a0001c0054t0002g0201 a0001c0074t0004g0200 a0001c0004t0001g0032 a0001c0054t0002g0201 a0001c0074t0004g0200	3	292	0.0103	46	c.11+ others(57): Show c.11+54_11+55insCTGCGGGGGTCCCGGGGGTCCCGGGGGTCGGCTG GGTCCTGCGGGG	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(39): Show GCTGCGGGGGTCGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGGGTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00609.hp1 others(15): Show HG00423.hp1 HG00558.hp2 HG00609.hp1 HG01257.hp1 HG01496.hp2 HG01928.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02165.hp2 NA18945.hp1 NA18949.hp2 NA18954.hp2 NA18966.hp2 NA18969.hp2 NA19002.hp2 NA19064.hp1 NA19074.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0005t0007 a0001c0008t0002 a0010c0014t0001	a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0277 others(15): Show a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0002g0278 a0001c0001t0013g0276 a0001c0002t0002g0269 a0001c0003t0001g0261 a0001c0003t0003g0264 a0001c0004t0001g0267 a0001c0004t0001g0271 a0001c0004t0001g0274 a0001c0005t0007g0262 a0001c0005t0007g0263 a0001c0008t0002g0268 a0001c0008t0002g0270 a0001c0008t0002g0272 a0010c0014t0001g0265 a0010c0014t0001g0275	18	292	0.0616	46	c.11+ others(57): Show c.11+63_11+64insCTGCGGGGGTCGCGGGGCTCGGCCGGGTCCTGCG GGGGTCGCGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	1/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501107	G G	GGTGTGTG others(39): Show GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0098 a0001c0098	a0001c0098t0001 a0001c0098t0001	a0001c0098t0001g0007 a0001c0098t0001g0007	1	292	0.0034	46	c.268 others(65): Show c.2684-2892_2684-2891insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921481	T T	TATATATT others(39): Show TATATATTCATATATATTCATATATTCATATATATTCATATATATTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG02109.hp1 others(12): Show HG00741.hp1 HG01167.hp2 HG02109.hp1 HG02257.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 NA19077.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0002t0016 a0001c0005t0003 a0001c0007t0035 a0001c0008t0001 a0001c0008t0004	a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0167 others(12): Show a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0167 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0009g0134 a0001c0001t0009g0144 a0001c0001t0009g0151 a0001c0001t0009g0152 a0001c0001t0009g0170 a0001c0002t0016g0154 a0001c0005t0003g0148 a0001c0007t0035g0157 a0001c0008t0001g0005 a0001c0008t0004g0141	15	182	0.0824	46	c.267 others(63): Show c.267-6404_267-6403insTCATATATATTCATATATATTCATATAT TCATATATATTCATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69921491	T T	TATATATT others(39): Show TATATATTCATATATATTCATATATTCATATATATTCATATATATTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0013 a0003c0010t0027 a0003c0010t0013 a0003c0010t0027	a0003c0010t0013g0172 a0003c0010t0013g0173 a0003c0010t0027g0119 a0003c0010t0013g0172 a0003c0010t0013g0173 a0003c0010t0027g0119	3	182	0.0165	46	c.267 others(63): Show c.267-6396_267-6395insATTCATATATATTCATATATATTCATAT ATTCATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098656	A A	AATATATA others(39): Show AATATATATATAAATATATATAAATATATATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0061 a0001c0001t0008g0061	1	264	0.0038	46	c.181 others(65): Show c.1812+2815_1812+2816insATTTATATATATTTATATATATATTT ATATATATTTATATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL24A1_chr1_85724233_86161772	86082622	T T	TATATATT others(39): Show TATATATTTATATAAATATATAACATATATTTATATAAATATATAAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02055.hp2 HG02615.hp1 others(3): Show HG01099.hp2 HG02055.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02922.hp2	a0004 a0015 a0023 others(1): Show a0004 a0015 a0023 a0031	a0004c0002 a0015c0039 a0023c0025 others(1): Show a0004c0002 a0015c0039 a0023c0025 a0031c0043	a0004c0002t0002 a0004c0002t0004 a0015c0039t0003 others(2): Show a0004c0002t0002 a0004c0002t0004 a0015c0039t0003 a0023c0025t0004 a0031c0043t0004	a0004c0002t0002g0209 a0004c0002t0002g0214 a0004c0002t0004g0215 others(3): Show a0004c0002t0002g0209 a0004c0002t0002g0214 a0004c0002t0004g0215 a0015c0039t0003g0025 a0023c0025t0004g0035 a0031c0043t0004g0105	6	238	0.0252	46	c.170 others(65): Show c.1707+6551_1707+6552insGTTATATATTTATATAAATATATGTT ATATATTTATATAAATATAT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	7/59			chr1	TogoVar
COL4A1_chr13_110143963_110312157	110252559	T T	TTGTATAT others(39): Show TTGTATATATTATATATACAATTATATACAAAATGTATATATGTATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02602.hp1 HG02622.hp1 others(10): Show HG00408.hp2 HG02602.hp1 HG02622.hp1 HG02735.hp1 HG03486.hp2 NA18522.hp2 NA18963.hp1 NA18969.hp1 NA18984.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19030.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0002c0002 a0002c0039 a0002c0088 a0002c0108 a0003c0103 a0004c0021 a0006c0042 a0007c0063	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(9): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0002c0002t0002 a0002c0039t0002 a0002c0088t0003 a0002c0108t0001 a0003c0103t0001 a0004c0021t0001 a0006c0042t0002 a0007c0063t0003	a0001c0001t0001g0011 a0001c0003t0001g0105 a0001c0006t0001g0087 others(10): Show a0001c0001t0001g0011 a0001c0003t0001g0105 a0001c0006t0001g0087 a0001c0006t0001g0104 a0001c0007t0001g0167 a0002c0002t0002g0299 a0002c0039t0002g0271 a0002c0088t0003g0225 a0002c0108t0001g0251 a0003c0103t0001g0240 a0004c0021t0001g0028 a0006c0042t0002g0280 a0007c0063t0003g0106	13	344	0.0378	46	c.85- others(61): Show c.85-9826_85-9825insTATACATATATACATTTTGTATATAATTGT ATATATAATATATACA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110252590	T T	TTGTATAT others(39): Show TTGTATATATTATATATACAATTATATACAAAATGTATATATGTATA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	344	0.0029	46	c.85- others(61): Show c.85-9857_85-9856insTATACATATATACATTTTGTATATAATTGT ATATATAATATATACA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0326 a0003c0002t0003g0326	1	344	0.0029	46	c.546 others(61): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATTTTTTTTTTTTT	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(39): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18998.hp1 NA18963.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0264 a0001c0001t0002g0111 a0001c0001t0002g0264	2	344	0.0058	46	c.546 others(61): Show c.546+711_546+712insATATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(39): Show GACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18941.hp2 NA18961.hp1 others(1): Show HG02683.hp1 NA18941.hp2 NA18961.hp1 NA18975.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0001 a0005c0011t0001 a0001c0001t0001 a0005c0011t0001	a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0110 others(1): Show a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0110 a0005c0011t0001g0077	4	248	0.0161	46	c.457 others(63): Show c.457-2214_457-2169dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189157133	T T	TATAGATA others(39): Show TATAGATATATCGATATATCTATATATATCTATATATAGATATATCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00609.hp2 others(55): Show HG00408.hp1 HG00423.hp2 HG00609.hp2 HG01081.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02273.hp1 HG02280.hp2 HG02486.hp2 HG02630.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18962.hp2 NA18965.hp1 NA18973.hp1 NA18995.hp2 NA19001.hp2 NA19002.hp1 NA19065.hp1 NA19076.hp2 NA19240.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0012	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0006 a0009c0016 a0012c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0024 a0001c0001t0025 a0001c0002t0002 a0001c0002t0009 a0001c0002t0014 a0001c0004t0018 a0001c0004t0021 a0001c0005t0002 a0001c0005t0019 a0002c0006t0005 a0002c0006t0017 a0009c0016t0006 a0012c0018t0012	a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0001g0155 others(55): Show a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0003g0045 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0135 a0001c0001t0003g0152 a0001c0001t0003g0166 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0008g0220 a0001c0001t0008g0236 a0001c0001t0008g0240 a0001c0001t0024g0241 a0001c0001t0025g0243 a0001c0002t0002g0237 a0001c0002t0009g0161 a0001c0002t0009g0162 a0001c0002t0014g0242 a0001c0002t0014g0244 a0001c0004t0018g0129 a0001c0004t0021g0134 a0001c0005t0002g0172 a0001c0005t0002g0174 a0001c0005t0002g0229 a0001c0005t0019g0173 a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 a0009c0016t0006g0130 a0012c0018t0012g0148	58	248	0.2339	46	c.97+ others(63): Show c.97+22374_97+22375insCGATATATCTATATATAGATATATATAG ATATATCGATATATCTAT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	1/53			chr2	TogoVar
COL6A1_chr21_45976770_46010048	45987814	G G	GGGGTCCA others(39): Show GGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02258.hp1 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0120 a0002c0002t0001g0040 a0002c0002t0001g0120	2	128	0.0156	46	c.804 others(61): Show c.804+162_804+163insGTCCAGATGGAGGGGACGGCGGGAGTCCAG ATGGAGGGGACGGCGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45987816	G G	GGTCCAGA others(39): Show GGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02630.hp1 HG00642.hp2 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0009 a0001c0001t0002 a0002c0002t0009	a0001c0001t0002g0104 a0002c0002t0009g0084 a0001c0001t0002g0104 a0002c0002t0009g0084	2	128	0.0156	46	c.804 others(61): Show c.804+162_804+163insGTCCAGATGGAGGGGACGGCGGGAGTCCAG ATGGAGGGGACGGCGT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34			chr21	TogoVar
COL6A1_chr21_45976770_46010048	45987978	G G	GGTCCAGA others(39): Show GGTCCAGATGGAGGGACGGCGGGGAGTCCAGATGGAGGGGACGGCGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0117 a0002c0002t0008g0117	1	128	0.0078	46	c.804 others(61): Show c.804+325_804+326insTCCAGATGGAGGGACGGCGGGGAGTCCAGA TGGAGGGGACGGCGTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988097	C C	CTCCAGAT others(39): Show CTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0005 a0015c0027t0005	a0015c0027t0005g0076 a0015c0027t0005g0076	1	128	0.0078	46	c.804 others(61): Show c.804+465_804+466insGTCCAGATGGAGGGGACGGCGGGGTCCAGA TGGAGGGGACGGCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988350	G G	GGGGTCCA others(39): Show GGGGTCCAGATGGAGGGGATGTCGGGGCTCCAGATGGAGGGGACGGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0049 a0001c0018t0001g0049	1	128	0.0078	46	c.804 others(61): Show c.804+698_804+699insGTCCAGATGGAGGGGATGTCGGGGCTCCAG ATGGAGGGGACGGCGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A6_chr3_130512177_130682042	130636912	T T	TCCCCTCC others(39): Show TCCCCTCCCCCTCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTTC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19002.hp1 NA18982.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0049 a0001c0001 a0002c0049	a0001c0001t0001 a0002c0049t0003 a0001c0001t0001 a0002c0049t0003	a0001c0001t0001g0188 a0002c0049t0003g0189 a0001c0001t0001g0188 a0002c0049t0003g0189	2	264	0.0076	46	c.509 others(65): Show c.5091+1189_5091+1190insTCCCCTTCCCCCTCCCCCTCCCCTCC CCTTCCCCCTCCCCCTCCCC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 NA19090.hp1 HG00544.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0013 a0002c0002t0001g0006 a0002c0002t0001g0013	2	438	0.0046	46	c.-11 others(57): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAATATATATATATATATA TATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 NA19090.hp2 HG02074.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	2	438	0.0046	46	c.-11 others(57): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	438	0.0023	46	c.-11 others(57): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar

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