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
COL26A1_chr7_101357875_101564024	101389449	GGCTCACT others(9): Show GGCTCACTGCAACCTCT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0085 a0001c0005t0008g0085	1	174	0.0058	-16	c.158 others(35): Show c.158+26262_158+26277delTCACTGCAACCTCTGC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101434042	TTCCCTCC others(9): Show TTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0115 a0001c0001t0008g0115	1	174	0.0058	-16	c.282 others(35): Show c.282-13607_282-13592delCCTCCCTCCCTCCCTC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463628	TTCCTTCC others(9): Show TTCCTTCCTTCCTTCCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp2 HG01081.hp2 others(21): Show HG00140.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG02258.hp1 HG02280.hp1 HG02602.hp2 HG03486.hp1 HG03516.hp2 HG03704.hp1 HG06807.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0001c0009 others(7): Show a0001c0001 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0002c0003 a0002c0004 a0002c0006 a0003c0010 a0003c0018	a0001c0001t0005 a0001c0008t0007 a0001c0009t0006 others(10): Show a0001c0001t0005 a0001c0008t0007 a0001c0009t0006 a0001c0009t0013 a0001c0013t0010 a0001c0014t0009 a0002c0003t0001 a0002c0004t0001 a0002c0004t0024 a0002c0006t0004 a0003c0010t0022 a0003c0010t0027 a0003c0018t0019	a0001c0001t0005g0059 a0001c0001t0005g0079 a0001c0001t0005g0134 others(21): Show a0001c0001t0005g0059 a0001c0001t0005g0079 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0139 a0001c0008t0007g0069 a0001c0008t0007g0075 a0001c0008t0007g0076 a0001c0008t0007g0077 a0001c0008t0007g0078 a0001c0008t0007g0121 a0001c0009t0006g0019 a0001c0009t0013g0014 a0001c0013t0010g0028 a0001c0013t0010g0039 a0001c0014t0009g0099 a0002c0003t0001g0161 a0002c0004t0001g0070 a0002c0004t0024g0095 a0002c0006t0004g0013 a0002c0006t0004g0016 a0003c0010t0022g0166 a0003c0010t0027g0172 a0003c0018t0019g0005	24	174	0.1379	-16	c.385 others(35): Show c.385+15849_385+15864delTTCCTTCCATCCTTCC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463636	TTCCTTCC others(9): Show TTCCTTCCATCCTTCCA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01074.hp1 HG03669.hp2 HG00280.hp2 HG01074.hp1 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0012 a0002c0003 a0001c0009 a0001c0012 a0002c0003	a0001c0009t0003 a0001c0012t0010 a0002c0003t0001 a0001c0009t0003 a0001c0012t0010 a0002c0003t0001	a0001c0009t0003g0026 a0001c0012t0010g0027 a0002c0003t0001g0088 a0001c0009t0003g0026 a0001c0012t0010g0027 a0002c0003t0001g0088	3	174	0.0172	-16	c.385 others(35): Show c.385+15865_385+15880delATCCTTCCATCCTTCC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463652	ATCCTTCC others(9): Show ATCCTTCCATCCTTCCT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0120 a0001c0001t0011g0120	1	174	0.0058	-16	c.385 others(35): Show c.385+15870_385+15885delTCCATCCTTCCTTCCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101473608	CCACACAC others(9): Show CCACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG01167.hp2 others(25): Show HG00621.hp2 HG00673.hp1 HG01167.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp1 HG02615.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03492.hp2 HG06807.hp1 NA18522.hp1 NA18942.hp2 NA18947.hp1 NA18963.hp1 NA18985.hp1 NA19005.hp1 NA19043.hp1 NA19060.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0002c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0002t0003 a0001c0002t0018 a0001c0005t0002 a0001c0005t0005 a0001c0005t0008 a0001c0005t0029 a0002c0003t0001 a0002c0004t0001 a0002c0007t0004	a0001c0001t0002g0064 a0001c0001t0002g0074 a0001c0001t0002g0080 others(25): Show a0001c0001t0002g0064 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0132 a0001c0001t0002g0173 a0001c0001t0005g0094 a0001c0001t0005g0137 a0001c0001t0011g0108 a0001c0002t0003g0015 a0001c0002t0018g0045 a0001c0005t0002g0118 a0001c0005t0005g0106 a0001c0005t0005g0167 a0001c0005t0008g0128 a0001c0005t0029g0092 a0002c0003t0001g0100 a0002c0003t0001g0130 a0002c0003t0001g0143 a0002c0003t0001g0158 a0002c0003t0001g0164 a0002c0004t0001g0145 a0002c0004t0001g0171 a0002c0007t0004g0007 a0002c0007t0004g0009	28	174	0.1609	-16	c.385 others(35): Show c.385+25852_385+25867delCACACACACACACACA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101475777	TTTCTTTC others(9): Show TTTCTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG02055.hp2 others(16): Show HG00558.hp1 HG00673.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02451.hp1 HG02698.hp2 HG02818.hp2 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0002c0007 a0003c0010 a0003c0017 a0007c0019	a0001c0001t0002 a0001c0001t0008 a0001c0002t0006 others(9): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0006 a0001c0005t0008 a0001c0005t0023 a0002c0003t0001 a0002c0003t0026 a0002c0004t0001 a0002c0007t0004 a0003c0010t0005 a0003c0017t0006 a0007c0019t0028	a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0008g0169 others(16): Show a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0008g0169 a0001c0002t0006g0003 a0001c0005t0008g0085 a0001c0005t0023g0116 a0002c0003t0001g0065 a0002c0003t0001g0102 a0002c0003t0026g0107 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0129 a0002c0004t0001g0148 a0002c0004t0001g0168 a0002c0007t0004g0053 a0003c0010t0005g0165 a0003c0017t0006g0006 a0007c0019t0028g0162	19	174	0.1092	-16	c.385 others(35): Show c.385+27994_385+28009delTTTCTTTCCTTCCTTC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489601	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0140 a0002c0003t0001g0140	1	174	0.0058	-16	c.385 others(35): Show c.385+41861_385+41876delTCTTTCTTTCTTTCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489660	TCTTCCTT others(9): Show TCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02055.hp2 HG02615.hp2 others(6): Show HG01168.hp2 HG02055.hp2 HG02615.hp2 HG02647.hp2 HG03041.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0013 others(3): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0002c0004 a0003c0010	a0001c0001t0008 a0001c0002t0006 a0001c0013t0010 others(4): Show a0001c0001t0008 a0001c0002t0006 a0001c0013t0010 a0001c0014t0009 a0002c0004t0001 a0002c0004t0030 a0003c0010t0005	a0001c0001t0008g0169 a0001c0002t0006g0010 a0001c0013t0010g0028 others(6): Show a0001c0001t0008g0169 a0001c0002t0006g0010 a0001c0013t0010g0028 a0001c0013t0010g0039 a0001c0014t0009g0117 a0002c0004t0001g0070 a0002c0004t0001g0145 a0002c0004t0030g0170 a0003c0010t0005g0165	9	174	0.0517	-16	c.385 others(35): Show c.385+41881_385+41896delCCTTCCTTCCTTCCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489756	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0067 a0002c0003t0001g0067	1	174	0.0058	-16	c.385 others(35): Show c.385+42118_385+42133delTCTTTCTTTCTTTCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101492699	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp2 others(44): Show HG00140.hp1 HG00323.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03195.hp2 HG03209.hp1 HG03704.hp1 HG04199.hp1 HG06807.hp2 NA18984.hp2 NA19005.hp2 NA19054.hp1 NA19080.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0004c0011 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0002t0006 a0001c0005t0002 a0001c0005t0005 a0001c0005t0008 a0001c0005t0012 a0001c0008t0007 a0001c0009t0006 a0001c0009t0013 a0001c0013t0010 a0001c0014t0009 a0002c0003t0001 a0002c0004t0001 a0002c0004t0024 a0002c0006t0004 a0002c0007t0004 a0004c0011t0003 a0006c0016t0004	a0001c0001t0001g0114 a0001c0001t0002g0062 a0001c0001t0002g0111 others(44): Show a0001c0001t0001g0114 a0001c0001t0002g0062 a0001c0001t0002g0111 a0001c0001t0005g0059 a0001c0001t0005g0079 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0139 a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0009g0159 a0001c0002t0006g0010 a0001c0005t0002g0118 a0001c0005t0005g0106 a0001c0005t0008g0128 a0001c0005t0012g0082 a0001c0008t0007g0069 a0001c0008t0007g0075 a0001c0008t0007g0076 a0001c0008t0007g0077 a0001c0008t0007g0078 a0001c0008t0007g0121 a0001c0009t0006g0019 a0001c0009t0013g0014 a0001c0013t0010g0028 a0001c0013t0010g0039 a0001c0014t0009g0099 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0087 a0002c0003t0001g0102 a0002c0003t0001g0130 a0002c0003t0001g0143 a0002c0004t0001g0070 a0002c0004t0001g0145 a0002c0004t0001g0168 a0002c0004t0001g0171 a0002c0004t0024g0095 a0002c0006t0004g0011 a0002c0006t0004g0013 a0002c0006t0004g0016 a0002c0007t0004g0007 a0002c0007t0004g0009 a0002c0007t0004g0046 a0004c0011t0003g0012 a0004c0011t0003g0038 a0006c0016t0004g0035	47	174	0.2701	-16	c.386 others(35): Show c.386-40348_386-40333delATAAATAAATAAATAA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101557030	TGGATGGA others(9): Show TGGATGGATGGATGGAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG01109.hp2 others(14): Show HG00741.hp1 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01257.hp2 HG01978.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02897.hp2 HG03041.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp1 NA18906.hp1 NA20129.hp2 NA20752.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0003c0010 a0003c0017 a0007c0019	a0001c0001t0005 a0001c0002t0006 a0001c0008t0007 others(4): Show a0001c0001t0005 a0001c0002t0006 a0001c0008t0007 a0001c0009t0006 a0003c0010t0005 a0003c0017t0006 a0007c0019t0028	a0001c0001t0005g0059 a0001c0001t0005g0079 a0001c0001t0005g0094 others(14): Show a0001c0001t0005g0059 a0001c0001t0005g0079 a0001c0001t0005g0094 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0137 a0001c0001t0005g0139 a0001c0002t0006g0003 a0001c0002t0006g0010 a0001c0002t0006g0022 a0001c0002t0006g0034 a0001c0002t0006g0041 a0001c0008t0007g0076 a0001c0009t0006g0019 a0003c0010t0005g0165 a0003c0017t0006g0006 a0007c0019t0028g0162	17	174	0.0977	-16	c.116 others(33): Show c.1166-337_1166-322delATGGATGGATGGACGG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL28A1_chr7_7352875_7540873	7400975	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01515.hp2 HG01243.hp2 HG01515.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0019 a0001c0001 a0006c0019	a0001c0001t0001 a0006c0019t0002 a0001c0001t0001 a0006c0019t0002	a0001c0001t0001g0156 a0006c0019t0002g0188 a0001c0001t0001g0156 a0006c0019t0002g0188	2	196	0.0102	-16	c.213 others(37): Show c.2136+16868_2136+16883delACACACACACACACAC	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	27/34			chr7	TogoVar
COL28A1_chr7_7352875_7540873	7497082	AAAGGAAG others(9): Show AAAGGAAGGAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	196	0.0051	-16	c.102 others(35): Show c.1027-6452_1027-6437delCCTTTCTTCCTTCCTT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	11/34			chr7	TogoVar
COL28A1_chr7_7352875_7540873	7516723	GTTCTATG others(9): Show GTTCTATGCATGACTTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02572.hp2 others(5): Show HG01243.hp1 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02970.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp1	a0002 a0004 a0007 others(1): Show a0002 a0004 a0007 a0028	a0002c0002 a0004c0006 a0007c0008 others(1): Show a0002c0002 a0004c0006 a0007c0008 a0028c0036	a0002c0002t0002 a0002c0002t0006 a0004c0006t0002 others(2): Show a0002c0002t0002 a0002c0002t0006 a0004c0006t0002 a0007c0008t0006 a0028c0036t0010	a0002c0002t0002g0004 a0002c0002t0006g0002 a0004c0006t0002g0005 others(5): Show a0002c0002t0002g0004 a0002c0002t0006g0002 a0004c0006t0002g0005 a0004c0006t0002g0006 a0004c0006t0002g0007 a0004c0006t0002g0008 a0007c0008t0006g0003 a0028c0036t0010g0001	8	196	0.0408	-16	c.856 others(31): Show c.856-899_856-884delAAAGTCATGCATAGAA	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	7/34			chr7	TogoVar
COL2A1_chr12_47967967_48009476	48003314	TACACACA others(9): Show TACACACACACACACGC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18966.hp2 NA19007.hp2 HG02080.hp1 NA18966.hp2 NA19007.hp2	a0004 a0004	a0004c0010 a0004c0017 a0004c0010 a0004c0017	a0004c0010t0001 a0004c0017t0001 a0004c0010t0001 a0004c0017t0001	a0004c0010t0001g0037 a0004c0017t0001g0138 a0004c0010t0001g0037 a0004c0017t0001g0138	3	414	0.0073	-16	c.85+ others(29): Show c.85+907_85+922delGCGTGTGTGTGTGTGT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding	1/53			chr12	TogoVar
COL2A1_chr12_47967967_48009476	48008113	GAGAGAGA others(9): Show GAGAGAGAGAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01070.hp2 others(15): Show HG00642.hp2 HG00741.hp2 HG01070.hp2 HG01168.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp2 HG01975.hp2 HG02080.hp1 HG02523.hp2 HG03834.hp1 HG04115.hp2 NA18612.hp2 NA18948.hp1 NA18949.hp1 NA18979.hp1 NA19007.hp2 NA19080.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0002 a0004c0010 a0004c0017 others(1): Show a0001c0002 a0004c0010 a0004c0017 a0005c0011	a0001c0002t0001 a0004c0010t0001 a0004c0017t0001 others(1): Show a0001c0002t0001 a0004c0010t0001 a0004c0017t0001 a0005c0011t0001	a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0019 others(10): Show a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0038 a0001c0002t0001g0146 a0001c0002t0001g0169 a0001c0002t0001g0175 a0001c0002t0001g0180 a0004c0010t0001g0037 a0004c0010t0001g0160 a0004c0017t0001g0138 a0005c0011t0001g0182	18	414	0.0435	-16	c.-38 others(27): Show c.-3808_-3793delTTCTTTCTCTCTCTCT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		3638		chr12	TogoVar
COL2A1_chr12_47967967_48009476	48008120	AGAGAAAG others(9): Show AGAGAAAGAAAGAAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03516.hp2 HG03579.hp2 HG01884.hp2 HG03516.hp2 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0032 a0001c0003 a0003c0032	a0001c0003t0007 a0003c0032t0001 a0001c0003t0007 a0003c0032t0001	a0001c0003t0007g0021 a0003c0032t0001g0114 a0001c0003t0007g0021 a0003c0032t0001g0114	3	414	0.0073	-16	c.-38 others(27): Show c.-3815_-3800delCCTTTCTTTCTTTCTC	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		3645		chr12	TogoVar
COL3A1_chr2_188969373_189017746	189007096	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18986.hp1 HG03130.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0129 a0001c0001t0003g0114 a0001c0001t0001g0129 a0001c0001t0003g0114	2	376	0.0053	-16	c.325 others(33): Show c.3255+135_3255+150delATATATATATATATAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	44/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	189007161	TGATAGAT others(9): Show TGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp1 HG02300.hp1 others(3): Show HG00639.hp1 HG02055.hp1 HG02300.hp1 HG03471.hp1 HG03688.hp2 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0003t0002 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0004t0002 a0002c0002t0001	a0001c0001t0001g0156 a0001c0003t0002g0106 a0001c0003t0002g0306 others(3): Show a0001c0001t0001g0156 a0001c0003t0002g0106 a0001c0003t0002g0306 a0001c0004t0002g0148 a0002c0002t0001g0255 a0002c0002t0001g0282	6	376	0.0160	-16	c.325 others(33): Show c.3255+206_3255+221delTAGATAGATAGATAGA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	44/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	189013488	AATATATA others(9): Show AATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0308 a0001c0003t0002g0308	1	376	0.0027	-16	c.17 others(27): Show c.1715_*1730delATATATATATATATAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		743		chr2	TogoVar
COL4A1_chr13_110143963_110312157	110170099	GAGGAAGG others(9): Show GAGGAAGGGAGGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0001 a0002c0043t0001	a0002c0043t0001g0181 a0002c0043t0001g0181	1	344	0.0029	-16	c.374 others(33): Show c.3743-353_3743-338delTCTTTCCTCCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	42/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110170113	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0316 a0003c0012t0002g0316	1	344	0.0029	-16	c.374 others(33): Show c.3743-367_3743-352delCTTCCTTCCTTCCTTC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	42/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110227411	CACACACA others(9): Show CACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0035 a0004c0035	a0004c0035t0001 a0004c0035t0001	a0004c0035t0001g0067 a0004c0035t0001g0067	1	344	0.0029	-16	c.145 others(35): Show c.145-13412_145-13397delTTGTGTGTGTGTGTGT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110329423	GGAAGGCG others(9): Show GGAAGGCGTCTAGTGGT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02976.hp1 HG03130.hp2 others(2): Show HG01192.hp1 HG02976.hp1 HG03130.hp2 HG03516.hp2 HG06807.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0013 a0003c0026 a0001c0001 a0002c0013 a0003c0026	a0001c0001t0010 a0002c0013t0005 a0003c0026t0001 a0001c0001t0010 a0002c0013t0005 a0003c0026t0001	a0001c0001t0010g0033 a0001c0001t0010g0035 a0002c0013t0005g0036 others(2): Show a0001c0001t0010g0033 a0001c0001t0010g0035 a0002c0013t0005g0036 a0003c0026t0001g0032 a0003c0026t0001g0034	5	372	0.0134	-16	c.99+ others(33): Show c.99+21301_99+21316delGAAGGCGTCTAGTGGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227193739	GGGAGGGA others(9): Show GGGAGGGAGGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19077.hp1 NA19086.hp2 NA18998.hp2 NA19077.hp1 NA19086.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0005 a0007c0006t0005	a0007c0006t0005g0017 a0007c0006t0005g0030 a0007c0006t0005g0149 a0007c0006t0005g0017 a0007c0006t0005g0030 a0007c0006t0005g0149	3	344	0.0087	-16	c.87+ others(33): Show c.87+28930_87+28945delGGGAGGGAAGGAAGGA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227193747	GGGAAGGA others(9): Show GGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG02056.hp1 others(7): Show HG00099.hp1 HG00438.hp1 HG02056.hp1 HG02486.hp2 HG02970.hp1 HG03491.hp1 NA18975.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0008 a0026	a0001c0001 a0002c0007 a0003c0002 others(4): Show a0001c0001 a0002c0007 a0003c0002 a0005c0005 a0006c0010 a0008c0009 a0026c0049	a0001c0001t0002 a0002c0007t0001 a0003c0002t0003 others(4): Show a0001c0001t0002 a0002c0007t0001 a0003c0002t0003 a0005c0005t0002 a0006c0010t0006 a0008c0009t0001 a0026c0049t0001	a0001c0001t0002g0135 a0001c0001t0002g0286 a0002c0007t0001g0019 others(7): Show a0001c0001t0002g0135 a0001c0001t0002g0286 a0002c0007t0001g0019 a0003c0002t0003g0312 a0005c0005t0002g0204 a0005c0005t0002g0223 a0006c0010t0006g0058 a0006c0010t0006g0072 a0008c0009t0001g0085 a0026c0049t0001g0272	10	344	0.0291	-16	c.87+ others(33): Show c.87+28973_87+28988delAAGGAAGGAAGGAAGG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203300	TATATGTG others(9): Show TATATGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA20300.hp1 NA18960.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0025 a0001c0001t0001 a0002c0004t0025	a0001c0001t0001g0214 a0002c0004t0025g0059 a0001c0001t0001g0214 a0002c0004t0025g0059	2	344	0.0058	-16	c.88- others(33): Show c.88-34663_88-34648delGTGTATATATACATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203392	TATATGTG others(9): Show TATATGTGTATACATAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19005.hp2 HG00558.hp1 NA19005.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0001 a0009c0008t0001 a0001c0001t0001 a0009c0008t0001	a0001c0001t0001g0120 a0009c0008t0001g0224 a0001c0001t0001g0120 a0009c0008t0001g0224	2	344	0.0058	-16	c.88- others(33): Show c.88-34571_88-34556delGTGTATACATACATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227235144	ACTGAGGA others(9): Show ACTGAGGACTTGCATTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG00738.hp2 others(27): Show HG00423.hp1 HG00639.hp1 HG00738.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01361.hp2 HG01975.hp1 HG01981.hp2 HG02055.hp1 HG02080.hp1 HG02257.hp1 HG02273.hp2 HG03704.hp1 HG03831.hp2 HG04115.hp2 NA18957.hp2 NA18969.hp1 NA18990.hp2 NA19005.hp2 NA19007.hp2 NA19063.hp1 NA19077.hp2 NA19084.hp2 NA19091.hp1 NA20752.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0009 a0021	a0001c0001 a0003c0002 a0003c0011 others(4): Show a0001c0001 a0003c0002 a0003c0011 a0004c0003 a0007c0006 a0009c0008 a0021c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0003c0002t0001 a0003c0011t0003 a0004c0003t0004 a0007c0006t0005 a0009c0008t0001 a0009c0008t0017 a0009c0008t0023 a0021c0053t0001	a0001c0001t0001g0018 a0001c0001t0001g0170 a0001c0001t0001g0205 others(27): Show a0001c0001t0001g0018 a0001c0001t0001g0170 a0001c0001t0001g0205 a0001c0001t0002g0130 a0001c0001t0002g0144 a0001c0001t0002g0291 a0001c0001t0007g0128 a0003c0002t0001g0054 a0003c0011t0003g0010 a0003c0011t0003g0337 a0004c0003t0004g0016 a0004c0003t0004g0028 a0004c0003t0004g0129 a0004c0003t0004g0132 a0004c0003t0004g0139 a0004c0003t0004g0213 a0004c0003t0004g0250 a0004c0003t0004g0254 a0004c0003t0004g0255 a0004c0003t0004g0271 a0007c0006t0005g0227 a0009c0008t0001g0167 a0009c0008t0001g0187 a0009c0008t0001g0224 a0009c0008t0001g0265 a0009c0008t0001g0270 a0009c0008t0001g0277 a0009c0008t0017g0158 a0009c0008t0023g0322 a0021c0053t0001g0165	30	344	0.0872	-16	c.88- others(31): Show c.88-2787_88-2772delGGACTTGCATTTCTGA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227250338	TGATAGAT others(9): Show TGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0009 a0005c0005t0009	a0005c0005t0009g0116 a0005c0005t0009g0116	1	344	0.0029	-16	c.547 others(31): Show c.547-769_547-754delGATAGATAGATAGATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227291577	AAACAAAA others(9): Show AAACAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02080.hp2 NA18947.hp2 others(1): Show HG02071.hp1 HG02080.hp2 NA18947.hp2 NA19007.hp1	a0003 a0004 a0006 a0003 a0004 a0006	a0003c0002 a0004c0003 a0006c0010 a0003c0002 a0004c0003 a0006c0010	a0003c0002t0003 a0004c0003t0003 a0006c0010t0003 a0003c0002t0003 a0004c0003t0003 a0006c0010t0003	a0003c0002t0003g0089 a0003c0002t0003g0123 a0004c0003t0003g0287 others(1): Show a0003c0002t0003g0089 a0003c0002t0003g0123 a0004c0003t0003g0287 a0006c0010t0003g0316	4	344	0.0116	-16	c.321 others(33): Show c.3210+694_3210+709delCAAAAAAAAAAAACAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	37/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227302677	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02922.hp2 HG01884.hp2 HG02559.hp2 HG02922.hp2	a0002 a0003 a0002 a0003	a0002c0026 a0003c0040 a0002c0026 a0003c0040	a0002c0026t0014 a0003c0040t0014 a0002c0026t0014 a0003c0040t0014	a0002c0026t0014g0071 a0002c0026t0014g0146 a0003c0040t0014g0038 a0002c0026t0014g0071 a0002c0026t0014g0146 a0003c0040t0014g0038	3	344	0.0087	-16	c.388 others(33): Show c.3883-347_3883-332delAAAAAAAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	43/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041720	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03491.hp1 HG04228.hp1 others(2): Show HG02683.hp1 HG03491.hp1 HG04228.hp1 NA18939.hp1 NA19009.hp1	a0002 a0032 a0002 a0032	a0002c0002 a0032c0057 a0002c0002 a0032c0057	a0002c0002t0002 a0002c0002t0005 a0032c0057t0002 a0002c0002t0002 a0002c0002t0005 a0032c0057t0002	a0002c0002t0002g0014 a0002c0002t0002g0140 a0002c0002t0002g0177 others(2): Show a0002c0002t0002g0014 a0002c0002t0002g0140 a0002c0002t0002g0177 a0002c0002t0005g0142 a0032c0057t0002g0220	5	284	0.0176	-16	c.350 others(33): Show c.3505+412_3505+427delTCCTTCCTTCCTTCCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041775	GAAGGAAG others(9): Show GAAGGAAGGAAGGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00438.hp2 HG00621.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0087 a0002c0002t0002g0112 a0001c0001t0001g0087 a0002c0002t0002g0112	2	284	0.0070	-16	c.350 others(33): Show c.3505+357_3505+372delTTTCCCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041779	GAAGGAAG others(9): Show GAAGGAAGGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp1 HG01123.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0059 a0002c0002 a0002c0059	a0002c0002t0002 a0002c0059t0025 a0002c0002t0002 a0002c0059t0025	a0002c0002t0002g0236 a0002c0059t0025g0037 a0002c0002t0002g0236 a0002c0059t0025g0037	2	284	0.0070	-16	c.350 others(33): Show c.3505+353_3505+368delTTTCTTTCCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041844	GAAAGAGA others(9): Show GAAAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0071 a0003c0003t0003g0071	1	284	0.0035	-16	c.350 others(33): Show c.3505+288_3505+303delTTCTTTCTTTCTCTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045821	TATATATA others(9): Show TATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03209.hp1 HG03098.hp1 HG03209.hp1	a0033 a0045 a0033 a0045	a0033c0043 a0045c0030 a0033c0043 a0045c0030	a0033c0043t0011 a0045c0030t0033 a0033c0043t0011 a0045c0030t0033	a0033c0043t0011g0279 a0045c0030t0033g0192 a0033c0043t0011g0279 a0045c0030t0033g0192	2	284	0.0070	-16	c.328 others(35): Show c.3289+1638_3289+1653delGTGTGTATATATATAT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108466978	TTTTTTCA others(9): Show TTTTTTCACTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0109 a0003c0005t0001g0109	1	269	0.0037	-16	c.81+ others(33): Show c.81+26774_81+26789delTTTTCACTTTTGTGAT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473597	ATATATAT others(9): Show ATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	269	0.0037	-16	c.81+ others(33): Show c.81+33407_81+33422delGTATATATATATATAT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108506341	CATCTATC others(9): Show CATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp2 HG01934.hp1 others(1): Show HG00140.hp1 HG01123.hp2 HG01934.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0184 a0001c0001t0001g0193 others(1): Show a0001c0001t0001g0144 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0223	4	269	0.0149	-16	c.82- others(33): Show c.82-33371_82-33356delTCTATCTATCTATCTA	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526589	CTCCCTCC others(9): Show CTCCCTCCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03130.hp1 NA18612.hp1 others(4): Show HG02165.hp2 HG03130.hp1 NA18612.hp1 NA18949.hp1 NA18957.hp2 NA18984.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0017 others(4): Show a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0033 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0267	7	269	0.0260	-16	c.82- others(33): Show c.82-13155_82-13140delCCCTCCTTTCTTTCTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526595	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03579.hp1 NA18973.hp1 others(1): Show HG02145.hp1 HG03579.hp1 NA18973.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0238 others(1): Show a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0003t0001g0218	4	269	0.0149	-16	c.82- others(33): Show c.82-13099_82-13084delTCTTTCTTTCTTTCTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526671	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02056.hp1 HG00423.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0189 a0001c0001t0001g0001 a0001c0001t0001g0189	2	269	0.0074	-16	c.82- others(33): Show c.82-13034_82-13019delTCTTTCTTTCTTTCTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A6_chrX_108150614_108443422	108237859	CATCTATC others(9): Show CATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03453.hp2 HG03654.hp1 others(1): Show HG02080.hp1 HG03453.hp2 HG03654.hp1 NA18522.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0012 a0002c0002 others(1): Show a0001c0001 a0001c0012 a0002c0002 a0008c0025	a0001c0001t0001 a0001c0012t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0012t0002 a0002c0002t0002 a0008c0025t0001	a0001c0001t0001g0064 a0001c0012t0002g0232 a0002c0002t0002g0206 others(1): Show a0001c0001t0001g0064 a0001c0012t0002g0232 a0002c0002t0002g0206 a0008c0025t0001g0161	4	234	0.0171	-16	c.145 others(35): Show c.145-16501_145-16486delAGATAGATAGATAGAT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108238034	ATATCTAT others(9): Show ATATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02683.hp2 HG02630.hp2 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0102 a0002c0002t0002g0193 a0001c0001t0001g0102 a0002c0002t0002g0193	2	234	0.0086	-16	c.145 others(35): Show c.145-16676_145-16661delGATAGATAGATAGATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108309801	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0232 a0001c0012t0002g0232	1	234	0.0043	-16	c.144 others(31): Show c.144+931_144+946delGTGTGTGTGTGTGTGT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343159	ATATATAG others(9): Show ATATATAGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	234	0.0043	-16	c.64- others(33): Show c.64-32347_64-32332delACACACACACTATATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108403233	GCTCTCTC others(9): Show GCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02056.hp1 HG02622.hp2 others(3): Show HG00423.hp1 HG02056.hp1 HG02622.hp2 HG03486.hp2 HG03540.hp1 NA19088.hp1	a0002 a0004 a0010 a0002 a0004 a0010	a0002c0002 a0004c0006 a0010c0014 a0002c0002 a0004c0006 a0010c0014	a0002c0002t0002 a0004c0006t0001 a0010c0014t0002 a0002c0002t0002 a0004c0006t0001 a0010c0014t0002	a0002c0002t0002g0209 a0002c0002t0002g0218 a0004c0006t0001g0009 others(3): Show a0002c0002t0002g0209 a0002c0002t0002g0218 a0004c0006t0001g0009 a0004c0006t0001g0010 a0004c0006t0001g0011 a0010c0014t0002g0213	6	234	0.0256	-16	c.63+ others(33): Show c.63+34693_63+34708delAGAGAGAGAGAGAGAG	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL5A1_chr9_134636803_134849843	134653934	ATGTAGGG others(9): Show ATGTAGGGCTGGAGGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02572.hp2 others(5): Show HG01109.hp1 HG02055.hp1 HG02572.hp2 HG02886.hp2 HG03130.hp1 HG03225.hp1 HG03579.hp1 NA19030.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0039 a0006c0034	a0001c0001t0007 a0001c0001t0020 a0001c0003t0008 others(5): Show a0001c0001t0007 a0001c0001t0020 a0001c0003t0008 a0001c0003t0044 a0001c0004t0004 a0001c0009t0003 a0001c0039t0004 a0006c0034t0009	a0001c0001t0007g0248 a0001c0001t0020g0194 a0001c0003t0008g0187 others(5): Show a0001c0001t0007g0248 a0001c0001t0020g0194 a0001c0003t0008g0187 a0001c0003t0044g0186 a0001c0004t0004g0224 a0001c0009t0003g0261 a0001c0039t0004g0197 a0006c0034t0009g0193	8	272	0.0294	-16	c.109 others(35): Show c.109+11649_109+11664delGAGGTGTGTAGGGCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar

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