Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL4A3_chr2_227159624_227319792	227193747	GGGAAGGA others(5): Show GGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp2 HG02615.hp1 others(15): Show HG01192.hp2 HG01884.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03579.hp1 HG03654.hp2 HG04228.hp2 NA19240.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0007 a0012 a0014 a0016 a0018 a0038	a0001c0001 a0002c0004 a0003c0011 others(8): Show a0001c0001 a0002c0004 a0003c0011 a0003c0040 a0006c0010 a0007c0006 a0012c0022 a0014c0023 a0016c0024 a0018c0028 a0038c0055	a0001c0001t0002 a0001c0001t0005 a0002c0004t0008 others(11): Show a0001c0001t0002 a0001c0001t0005 a0002c0004t0008 a0003c0011t0021 a0003c0011t0022 a0003c0040t0014 a0006c0010t0001 a0006c0010t0006 a0007c0006t0005 a0012c0022t0001 a0014c0023t0002 a0016c0024t0002 a0018c0028t0001 a0038c0055t0001	a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0057 others(15): Show a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0172 a0001c0001t0005g0051 a0002c0004t0008g0094 a0003c0011t0021g0303 a0003c0011t0022g0001 a0003c0040t0014g0038 a0006c0010t0001g0014 a0006c0010t0006g0066 a0007c0006t0005g0126 a0012c0022t0001g0069 a0014c0023t0002g0338 a0016c0024t0002g0232 a0016c0024t0002g0294 a0018c0028t0001g0013 a0038c0055t0001g0007	18	344	0.0523	-12	c.87+ others(29): Show c.87+28977_87+28988delAAGGAAGGAAGG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227193868	TAAGGAGA others(5): Show TAAGGAGAGAGGG	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0005 a0007c0006t0005	a0007c0006t0005g0199 a0007c0006t0005g0199	1	344	0.0029	-12	c.87+ others(29): Show c.87+29057_87+29068delAGGAGAGAGGGA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227193935	TAAGGAGA others(5): Show TAAGGAGAGAGGG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0010 a0003c0011t0010	a0003c0011t0010g0341 a0003c0011t0010g0341	1	344	0.0029	-12	c.87+ others(29): Show c.87+29124_87+29135delAGGAGAGAGGGA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227195685	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02896.hp2 HG02897.hp2 HG02559.hp1 HG02896.hp2 HG02897.hp2	a0002 a0010 a0002 a0010	a0002c0004 a0010c0051 a0002c0004 a0010c0051	a0002c0004t0008 a0010c0051t0002 a0002c0004t0008 a0010c0051t0002	a0002c0004t0008g0240 a0002c0004t0008g0246 a0010c0051t0002g0145 a0002c0004t0008g0240 a0002c0004t0008g0246 a0010c0051t0002g0145	3	344	0.0087	-12	c.87+ others(29): Show c.87+30887_87+30898delTGTGTGTGTATG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202942	TGTGTATA others(5): Show TGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0006 a0006c0010t0006	a0006c0010t0006g0156 a0006c0010t0006g0156	1	344	0.0029	-12	c.88- others(29): Show c.88-35025_88-35014delGTGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203214	CACATATA others(5): Show CACATATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0006 a0006c0010t0006	a0006c0010t0006g0156 a0006c0010t0006g0156	1	344	0.0029	-12	c.88- others(29): Show c.88-34752_88-34741delCATATATGTGTA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203506	CATATATG others(5): Show CATATATGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02970.hp2 others(1): Show HG02257.hp1 HG02451.hp1 HG02970.hp2 NA19043.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0007	a0002c0004 a0003c0002 a0005c0029 others(1): Show a0002c0004 a0003c0002 a0005c0029 a0007c0006	a0002c0004t0018 a0003c0002t0001 a0005c0029t0015 others(1): Show a0002c0004t0018 a0003c0002t0001 a0005c0029t0015 a0007c0006t0005	a0002c0004t0018g0268 a0003c0002t0001g0054 a0005c0029t0015g0295 others(1): Show a0002c0004t0018g0268 a0003c0002t0001g0054 a0005c0029t0015g0295 a0007c0006t0005g0343	4	344	0.0116	-12	c.88- others(29): Show c.88-34451_88-34440delGTATATATGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203566	CATATATG others(5): Show CATATATGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02970.hp2 others(1): Show HG02257.hp1 HG02451.hp1 HG02970.hp2 NA19043.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0007	a0002c0004 a0003c0002 a0005c0029 others(1): Show a0002c0004 a0003c0002 a0005c0029 a0007c0006	a0002c0004t0018 a0003c0002t0001 a0005c0029t0015 others(1): Show a0002c0004t0018 a0003c0002t0001 a0005c0029t0015 a0007c0006t0005	a0002c0004t0018g0268 a0003c0002t0001g0054 a0005c0029t0015g0295 others(1): Show a0002c0004t0018g0268 a0003c0002t0001g0054 a0005c0029t0015g0295 a0007c0006t0005g0343	4	344	0.0116	-12	c.88- others(29): Show c.88-34391_88-34380delGTATATATGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227208765	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0039 a0003c0039	a0003c0039t0010 a0003c0039t0010	a0003c0039t0010g0005 a0003c0039t0010g0005	1	344	0.0029	-12	c.88- others(29): Show c.88-29173_88-29162delCACACACACACA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227218067	ACTATATA others(5): Show ACTATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02451.hp1 NA19043.hp2 HG01074.hp1 HG02451.hp1 NA19043.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0029 a0007c0006 a0001c0001 a0005c0029 a0007c0006	a0001c0001t0007 a0005c0029t0015 a0007c0006t0005 a0001c0001t0007 a0005c0029t0015 a0007c0006t0005	a0001c0001t0007g0128 a0005c0029t0015g0295 a0007c0006t0005g0343 a0001c0001t0007g0128 a0005c0029t0015g0295 a0007c0006t0005g0343	3	344	0.0087	-12	c.88- others(29): Show c.88-19889_88-19878delGCTATATATATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227220136	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18982.hp2 HG02257.hp1 NA18982.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0001 a0001c0001t0002 a0003c0002t0001	a0001c0001t0002g0185 a0003c0002t0001g0054 a0001c0001t0002g0185 a0003c0002t0001g0054	2	344	0.0058	-12	c.88- others(29): Show c.88-17814_88-17803delGTGTGTGTGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227222122	CTAATAAT others(5): Show CTAATAATAATAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0217 a0008c0009t0001g0217	1	344	0.0029	-12	c.88- others(29): Show c.88-15814_88-15803delAATAATAATAAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227222154	AATAATAA others(5): Show AATAATAATAATG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18522.hp2 HG02280.hp1 NA18522.hp2	a0002 a0003 a0002 a0003	a0002c0027 a0003c0002 a0002c0027 a0003c0002	a0002c0027t0012 a0003c0002t0001 a0002c0027t0012 a0003c0002t0001	a0002c0027t0012g0011 a0003c0002t0001g0042 a0002c0027t0012g0011 a0003c0002t0001g0042	2	344	0.0058	-12	c.88- others(29): Show c.88-15808_88-15797delAATAATGATAAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227222160	AATAATGA others(5): Show AATAATGATAATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp2 HG03831.hp2 others(1): Show HG02451.hp1 HG03453.hp2 HG03831.hp2 NA19043.hp2	a0005 a0007 a0009 others(1): Show a0005 a0007 a0009 a0012	a0005c0029 a0007c0006 a0009c0008 others(1): Show a0005c0029 a0007c0006 a0009c0008 a0012c0022	a0005c0029t0015 a0007c0006t0005 a0009c0008t0001 others(1): Show a0005c0029t0015 a0007c0006t0005 a0009c0008t0001 a0012c0022t0001	a0005c0029t0015g0295 a0007c0006t0005g0343 a0009c0008t0001g0167 others(1): Show a0005c0029t0015g0295 a0007c0006t0005g0343 a0009c0008t0001g0167 a0012c0022t0001g0069	4	344	0.0116	-12	c.88- others(29): Show c.88-15802_88-15791delGATAATGATAAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227250338	TGATAGAT others(5): Show TGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01516.hp1 HG02080.hp2 others(20): Show HG00099.hp2 HG01516.hp1 HG02080.hp2 HG02145.hp1 HG02486.hp1 HG03017.hp2 HG03195.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 NA18951.hp2 NA18955.hp2 NA18959.hp2 NA18979.hp1 NA19003.hp2 NA19005.hp1 NA19043.hp2 NA19056.hp2 NA19074.hp1 NA19085.hp1 NA19086.hp1 NA19091.hp2	a0001 a0003 a0005 others(6): Show a0001 a0003 a0005 a0006 a0007 a0009 a0011 a0013 a0024	a0001c0001 a0003c0002 a0003c0011 others(9): Show a0001c0001 a0003c0002 a0003c0011 a0005c0005 a0005c0029 a0006c0010 a0006c0016 a0007c0006 a0009c0008 a0011c0012 a0013c0015 a0024c0045	a0001c0001t0001 a0001c0001t0002 a0003c0002t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0003c0002t0003 a0003c0011t0010 a0005c0005t0001 a0005c0005t0002 a0005c0005t0007 a0005c0029t0015 a0006c0010t0001 a0006c0016t0001 a0006c0016t0018 a0007c0006t0005 a0009c0008t0001 a0011c0012t0001 a0013c0015t0002 a0024c0045t0002	a0001c0001t0001g0101 a0001c0001t0001g0152 a0001c0001t0002g0301 others(20): Show a0001c0001t0001g0101 a0001c0001t0001g0152 a0001c0001t0002g0301 a0003c0002t0003g0123 a0003c0002t0003g0207 a0003c0011t0010g0341 a0005c0005t0001g0032 a0005c0005t0002g0179 a0005c0005t0002g0197 a0005c0005t0007g0280 a0005c0005t0007g0298 a0005c0029t0015g0295 a0006c0010t0001g0014 a0006c0016t0001g0225 a0006c0016t0018g0036 a0007c0006t0005g0133 a0009c0008t0001g0238 a0011c0012t0001g0239 a0011c0012t0001g0261 a0011c0012t0001g0262 a0013c0015t0002g0075 a0013c0015t0002g0151 a0024c0045t0002g0076	23	344	0.0669	-12	c.547 others(27): Show c.547-765_547-754delGATAGATAGATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227271461	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0022 a0003c0011t0022	a0003c0011t0022g0001 a0003c0011t0022g0001	1	344	0.0029	-12	c.175 others(29): Show c.1758+526_1758+537delTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	25/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227291568	AAAAAAAA others(5): Show AAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp2 HG02818.hp1 others(2): Show HG02647.hp1 HG02809.hp2 HG02818.hp1 HG03453.hp2 HG03579.hp1	a0012 a0018 a0030 others(2): Show a0012 a0018 a0030 a0033 a0036	a0012c0022 a0018c0028 a0030c0036 others(2): Show a0012c0022 a0018c0028 a0030c0036 a0033c0030 a0036c0057	a0012c0022t0001 a0018c0028t0001 a0030c0036t0011 others(2): Show a0012c0022t0001 a0018c0028t0001 a0030c0036t0011 a0033c0030t0011 a0036c0057t0011	a0012c0022t0001g0069 a0018c0028t0001g0013 a0030c0036t0011g0044 others(2): Show a0012c0022t0001g0069 a0018c0028t0001g0013 a0030c0036t0011g0044 a0033c0030t0011g0043 a0036c0057t0011g0006	5	344	0.0145	-12	c.321 others(29): Show c.3210+694_3210+705delCAAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	37/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227302677	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02258.hp2 HG00438.hp1 HG02258.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0007 a0005c0005t0002 a0005c0005t0007	a0005c0005t0002g0204 a0005c0005t0007g0215 a0005c0005t0002g0204 a0005c0005t0007g0215	2	344	0.0058	-12	c.388 others(29): Show c.3883-343_3883-332delAAAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	43/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227009709	AAGAGGAA others(5): Show AAGAGGAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02897.hp1 HG02965.hp1 others(1): Show HG02818.hp2 HG02897.hp1 HG02965.hp1 NA19064.hp2	a0011 a0019 a0011 a0019	a0011c0012 a0011c0053 a0019c0025 a0011c0012 a0011c0053 a0019c0025	a0011c0012t0006 a0011c0053t0015 a0019c0025t0002 a0011c0012t0006 a0011c0053t0015 a0019c0025t0002	a0011c0012t0006g0032 a0011c0012t0006g0257 a0011c0053t0015g0152 others(1): Show a0011c0012t0006g0032 a0011c0012t0006g0257 a0011c0053t0015g0152 a0019c0025t0002g0198	4	284	0.0141	-12	c.452 others(29): Show c.4522+592_4522+603delCTCTTTTCCTCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	46/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227030916	AGATGGAT others(5): Show AGATGGATGGATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01099.hp2 others(1): Show HG00099.hp1 HG00639.hp1 HG01099.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0021 a0002c0002 a0002c0021	a0002c0002t0002 a0002c0021t0002 a0002c0002t0002 a0002c0021t0002	a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0021t0002g0245 others(1): Show a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0021t0002g0245 a0002c0021t0002g0246	4	284	0.0141	-12	c.381 others(29): Show c.3818-330_3818-319delCATCCATCCATC	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	40/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227036458	ACTCAGGC others(5): Show ACTCAGGCCCAGG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	284	0.0035	-12	c.350 others(31): Show c.3506-2989_3506-2978delCCTGGGCCTGAG	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041720	GAGGAAGG others(5): Show GAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02257.hp2 HG02486.hp2 others(3): Show HG01943.hp2 HG02257.hp2 HG02486.hp2 HG02735.hp1 HG02970.hp1 HG03492.hp1	a0002 a0007 a0039 a0002 a0007 a0039	a0002c0002 a0007c0006 a0039c0067 a0002c0002 a0007c0006 a0039c0067	a0002c0002t0002 a0007c0006t0004 a0039c0067t0028 a0002c0002t0002 a0007c0006t0004 a0039c0067t0028	a0002c0002t0002g0043 a0002c0002t0002g0107 a0002c0002t0002g0205 others(3): Show a0002c0002t0002g0043 a0002c0002t0002g0107 a0002c0002t0002g0205 a0007c0006t0004g0171 a0007c0006t0004g0172 a0039c0067t0028g0235	6	284	0.0211	-12	c.350 others(29): Show c.3505+416_3505+427delTCCTTCCTTCCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041779	GAAGGAAG others(5): Show GAAGGAAGGGAAA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19068.hp1 NA18946.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0207 a0001c0001t0001g0054 a0001c0001t0001g0207	2	284	0.0070	-12	c.350 others(29): Show c.3505+357_3505+368delTTTCCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041805	GAAGAAAG others(5): Show GAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0057 a0003c0003t0003g0057	1	284	0.0035	-12	c.350 others(29): Show c.3505+331_3505+342delTCTTTCTTTCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041840	GAAAGAAA others(5): Show GAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0003 a0012c0011t0003	a0012c0011t0003g0233 a0012c0011t0003g0233	1	284	0.0035	-12	c.350 others(29): Show c.3505+296_3505+307delTTCTCTTTCTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041848	GAGAAAGA others(5): Show GAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	284	0.0035	-12	c.350 others(29): Show c.3505+288_3505+299delTTCTTTCTTTCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045789	TATATATA others(5): Show TATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp1 HG03486.hp2 HG02886.hp2 HG03225.hp1 HG03486.hp2	a0001 a0042 a0001 a0042	a0001c0001 a0042c0034 a0001c0001 a0042c0034	a0001c0001t0001 a0042c0034t0004 a0001c0001t0001 a0042c0034t0004	a0001c0001t0001g0213 a0001c0001t0001g0273 a0042c0034t0004g0274 a0001c0001t0001g0213 a0001c0001t0001g0273 a0042c0034t0004g0274	3	284	0.0106	-12	c.328 others(31): Show c.3289+1674_3289+1685delGTGTATATATAT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227047731	CCACACAC others(5): Show CCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA21309.hp2 HG02970.hp2 NA21309.hp2	a0016 a0016	a0016c0064 a0016c0065 a0016c0064 a0016c0065	a0016c0064t0005 a0016c0065t0005 a0016c0064t0005 a0016c0065t0005	a0016c0064t0005g0178 a0016c0065t0005g0150 a0016c0064t0005g0178 a0016c0065t0005g0150	2	284	0.0070	-12	c.321 others(29): Show c.3215-194_3215-183delTGTGTGTGTGTG	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	34/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227091247	CAGATATA others(5): Show CAGATATAGATAT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02257.hp2 HG02486.hp1 others(7): Show HG01106.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02886.hp1 HG02970.hp1 HG03471.hp1 HG03516.hp2 NA18522.hp1	a0004 a0006 a0007 others(3): Show a0004 a0006 a0007 a0038 a0039 a0043	a0004c0004 a0006c0005 a0007c0006 others(4): Show a0004c0004 a0006c0005 a0007c0006 a0007c0031 a0038c0038 a0039c0067 a0043c0036	a0004c0004t0037 a0006c0005t0004 a0007c0006t0004 others(4): Show a0004c0004t0037 a0006c0005t0004 a0007c0006t0004 a0007c0031t0004 a0038c0038t0005 a0039c0067t0028 a0043c0036t0038	a0004c0004t0037g0062 a0006c0005t0004g0158 a0007c0006t0004g0171 others(7): Show a0004c0004t0037g0062 a0006c0005t0004g0158 a0007c0006t0004g0171 a0007c0006t0004g0172 a0007c0006t0004g0173 a0007c0006t0004g0181 a0007c0031t0004g0170 a0038c0038t0005g0024 a0039c0067t0028g0235 a0043c0036t0038g0153	10	284	0.0352	-12	c.137 others(31): Show c.1370-1302_1370-1291delATATCTATATCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	20/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227140875	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02647.hp2 others(5): Show HG02257.hp1 HG02451.hp1 HG02647.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 NA18906.hp2 NA19043.hp2	a0001 a0004 a0035 a0001 a0004 a0035	a0001c0001 a0001c0010 a0004c0051 others(1): Show a0001c0001 a0001c0010 a0004c0051 a0035c0037	a0001c0001t0001 a0001c0001t0017 a0001c0010t0005 others(2): Show a0001c0001t0001 a0001c0001t0017 a0001c0010t0005 a0004c0051t0005 a0035c0037t0016	a0001c0001t0001g0273 a0001c0001t0017g0002 a0001c0010t0005g0272 others(5): Show a0001c0001t0001g0273 a0001c0001t0017g0002 a0001c0010t0005g0272 a0001c0010t0005g0275 a0001c0010t0005g0276 a0001c0010t0005g0277 a0004c0051t0005g0023 a0035c0037t0016g0003	8	284	0.0282	-12	c.115 others(27): Show c.115-649_115-638delTGTGTGTGTGTG	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	3/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108506341	CATCTATC others(5): Show CATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp1 HG01255.hp1 others(5): Show HG00099.hp1 HG00673.hp1 HG01255.hp1 HG02257.hp1 NA18939.hp2 NA18942.hp1 NA18955.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0086 a0001c0001t0001g0089 others(5): Show a0001c0001t0001g0051 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0229 a0001c0001t0001g0255	8	269	0.0297	-12	c.82- others(29): Show c.82-33367_82-33356delTCTATCTATCTA	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526589	CTCCCTCC others(5): Show CTCCCTCCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp2 NA18951.hp1 others(3): Show HG02922.hp2 HG03041.hp2 NA18951.hp1 NA18969.hp1 NA18986.hp1 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0013 a0002c0002t0001 a0002c0002t0013	a0002c0002t0001g0012 a0002c0002t0001g0019 a0002c0002t0001g0028 others(3): Show a0002c0002t0001g0012 a0002c0002t0001g0019 a0002c0002t0001g0028 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0013g0031	6	269	0.0223	-12	c.82- others(29): Show c.82-13155_82-13144delCCCTCCTTTCTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526593	CTCCTTTC others(5): Show CTCCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02523.hp1 HG02055.hp1 HG02523.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0007 a0002c0004 a0005c0007	a0002c0004t0001 a0005c0007t0001 a0002c0004t0001 a0005c0007t0001	a0002c0004t0001g0263 a0005c0007t0001g0262 a0002c0004t0001g0263 a0005c0007t0001g0262	2	269	0.0074	-12	c.82- others(29): Show c.82-13151_82-13140delCCTTTCTTTCTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526595	CCTTTCTT others(5): Show CCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01884.hp1 HG02451.hp2 others(6): Show HG00099.hp1 HG01884.hp1 HG02451.hp2 HG02809.hp2 NA18957.hp1 NA18961.hp1 NA18990.hp1 NA19005.hp1 NA19012.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0159 others(6): Show a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0240 a0001c0001t0001g0247 a0004c0006t0001g0245	9	269	0.0335	-12	c.82- others(29): Show c.82-13095_82-13084delTCTTTCTTTCTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526667	CTTTCTCT others(5): Show CTTTCTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0244 a0004c0006t0001g0244	1	269	0.0037	-12	c.82- others(29): Show c.82-13077_82-13066delTTCTCTTTCTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526671	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02109.hp2 HG02698.hp1 others(2): Show HG00735.hp1 HG02109.hp2 HG02698.hp1 HG04228.hp1 homoSapiens_chm13v2.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0001 a0001c0001t0015 a0011c0010t0001 a0001c0001t0001 a0001c0001t0015 a0011c0010t0001	a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0235 others(2): Show a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0235 a0001c0001t0015g0075 a0011c0010t0001g0261	5	269	0.0186	-12	c.82- others(29): Show c.82-13030_82-13019delTCTTTCTTTCTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108600642	TTAGATAG others(5): Show TTAGATAGATAGA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18952.hp1 HG00408.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0253 a0001c0001t0001g0136 a0001c0001t0001g0253	2	269	0.0074	-12	c.194 others(29): Show c.1949-713_1949-702delAGATAGATAGAT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	25/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108699131	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0190 a0001c0001t0001g0192	2	269	0.0074	-12	c.27 others(23): Show c.2754_*2765delTGTGTGTGTGTG	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding		1587		chrX	TogoVar
COL4A6_chrX_108150614_108443422	108211801	TTATCTGA others(5): Show TTATCTGATCAGA	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19055.hp1 NA19062.hp1 NA18971.hp1 NA19055.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0125 a0001c0010t0001g0066 a0001c0010t0001g0070 a0001c0001t0001g0125 a0001c0010t0001g0066 a0001c0010t0001g0070	3	234	0.0128	-12	c.442 others(25): Show c.442-73_442-62delTCTGATCAGATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	6/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108219860	CCCATATT others(5): Show CCCATATTGTATT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(70): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01517.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02056.hp1 HG02109.hp1 HG02129.hp1 HG02257.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02897.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18906.hp2 NA18943.hp1 NA18948.hp1 NA18955.hp1 NA18979.hp2 NA18982.hp1 NA18993.hp2 NA18995.hp1 NA19000.hp1 NA19009.hp1 NA19074.hp1 NA19088.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(3): Show a0001 a0002 a0008 a0009 a0010 a0011	a0001c0001 a0002c0002 a0002c0017 others(4): Show a0001c0001 a0002c0002 a0002c0017 a0008c0025 a0009c0013 a0010c0014 a0011c0015	a0001c0001t0001 a0001c0001t0010 a0002c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0011 a0002c0017t0001 a0008c0025t0001 a0009c0013t0001 a0010c0014t0002 a0011c0015t0002	a0001c0001t0001g0202 a0001c0001t0001g0230 a0001c0001t0010g0198 others(70): Show a0001c0001t0001g0202 a0001c0001t0001g0230 a0001c0001t0010g0198 a0002c0002t0001g0045 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0211 a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0166 a0002c0002t0002g0168 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0197 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0003g0160 a0002c0002t0003g0174 a0002c0002t0003g0229 a0002c0002t0007g0182 a0002c0002t0011g0183 a0002c0017t0001g0228 a0008c0025t0001g0161 a0009c0013t0001g0199 a0010c0014t0002g0213 a0011c0015t0002g0196	73	234	0.3120	-12	c.280 others(27): Show c.280-130_280-119delAATACAATATGG	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	4/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108232890	CCAAACAA others(5): Show CCAAACAAACAAA	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18977.hp1 NA18994.hp1 NA18962.hp1 NA18977.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149	3	234	0.0128	-12	c.145 others(31): Show c.145-11528_145-11517delTTTGTTTGTTTG	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108237859	CATCTATC others(5): Show CATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG02145.hp1 others(6): Show HG00735.hp1 HG01243.hp1 HG02145.hp1 HG02523.hp2 HG02559.hp2 HG03579.hp1 NA18979.hp2 NA18982.hp1 NA19030.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0003c0004 a0009c0013	a0001c0001t0001 a0001c0009t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0009t0002 a0002c0002t0001 a0002c0002t0002 a0003c0004t0004 a0009c0013t0001	a0001c0001t0001g0063 a0001c0001t0001g0137 a0001c0009t0002g0170 others(6): Show a0001c0001t0001g0063 a0001c0001t0001g0137 a0001c0009t0002g0170 a0002c0002t0001g0045 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0002g0166 a0003c0004t0004g0057 a0009c0013t0001g0199	9	234	0.0385	-12	c.145 others(31): Show c.145-16497_145-16486delAGATAGATAGAT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108238034	ATATCTAT others(5): Show ATATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02257.hp1 HG02451.hp2 others(9): Show HG02129.hp1 HG02257.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 NA18993.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0014	a0001c0001 a0001c0009 a0002c0002 others(3): Show a0001c0001 a0001c0009 a0002c0002 a0002c0003 a0003c0004 a0014c0020	a0001c0001t0001 a0001c0009t0003 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0009t0003 a0002c0002t0001 a0002c0002t0003 a0002c0003t0003 a0003c0004t0004 a0014c0020t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0009t0003g0036 others(9): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0009t0003g0036 a0002c0002t0001g0165 a0002c0002t0001g0181 a0002c0002t0003g0174 a0002c0002t0003g0229 a0002c0003t0003g0031 a0002c0003t0003g0047 a0003c0004t0004g0001 a0003c0004t0004g0002 a0014c0020t0001g0051	12	234	0.0513	-12	c.145 others(31): Show c.145-16672_145-16661delGATAGATAGATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108241993	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0070 a0001c0010t0001g0070	1	234	0.0043	-12	c.145 others(31): Show c.145-20631_145-20620delAAAAAAAAAAAA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108289242	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG03490.hp1 others(2): Show HG00099.hp2 HG00741.hp1 HG03490.hp1 HG03704.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 others(2): Show a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0002g0214 a0002c0002t0002g0227	5	234	0.0214	-12	c.144 others(31): Show c.144+21494_144+21505delACACACACACAC	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108302526	GTATTATC others(5): Show GTATTATCTCCAA	G G	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	234	0.0043	-12	c.144 others(29): Show c.144+8210_144+8221delTTGGAGATAATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108309801	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG04199.hp1 NA19083.hp1 HG02074.hp1 HG04199.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0081	3	234	0.0128	-12	c.144 others(27): Show c.144+935_144+946delGTGTGTGTGTGT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108351436	CTCTCTCT others(5): Show CTCTCTCTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0008 a0002c0024t0008	a0002c0024t0008g0035 a0002c0024t0008g0035	1	234	0.0043	-12	c.64- others(29): Show c.64-40620_64-40609delCACACAGAGAGA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108403233	GCTCTCTC others(5): Show GCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(87): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01433.hp1 HG01517.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18951.hp1 NA18955.hp1 NA18960.hp1 NA18967.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18993.hp2 NA19000.hp1 NA19009.hp1 NA19056.hp1 NA19068.hp1 NA19074.hp1 NA19085.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0008 a0009 a0011	a0001c0001 a0001c0005 a0001c0009 others(9): Show a0001c0001 a0001c0005 a0001c0009 a0002c0002 a0002c0003 a0002c0011 a0002c0017 a0003c0004 a0007c0026 a0008c0025 a0009c0013 a0011c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0005t0003 a0001c0009t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0011 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0011t0003 a0002c0017t0001 a0003c0004t0006 a0007c0026t0002 a0008c0025t0001 a0009c0013t0001 a0011c0015t0002	a0001c0001t0001g0020 a0001c0001t0001g0116 a0001c0001t0001g0195 others(87): Show a0001c0001t0001g0020 a0001c0001t0001g0116 a0001c0001t0001g0195 a0001c0001t0001g0230 a0001c0001t0002g0012 a0001c0001t0010g0198 a0001c0005t0003g0042 a0001c0009t0002g0170 a0002c0002t0001g0045 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0211 a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0166 a0002c0002t0002g0168 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0197 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0210 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0003g0160 a0002c0002t0003g0174 a0002c0002t0003g0229 a0002c0002t0007g0182 a0002c0002t0011g0183 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0023 a0002c0003t0002g0032 a0002c0003t0002g0034 a0002c0003t0002g0187 a0002c0003t0005g0030 a0002c0011t0003g0033 a0002c0017t0001g0228 a0003c0004t0006g0058 a0007c0026t0002g0192 a0008c0025t0001g0161 a0009c0013t0001g0199 a0011c0015t0002g0196	90	234	0.3846	-12	c.63+ others(29): Show c.63+34697_63+34708delAGAGAGAGAGAG	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108408335	GAGAAAGA others(5): Show GAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0008 a0002c0024t0008	a0002c0024t0008g0035 a0002c0024t0008g0035	1	234	0.0043	-12	c.63+ others(29): Show c.63+29595_63+29606delTTCTTTCTTTCT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar

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