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
CNTNAP3_chr9_39059710_39293167	39254361	G G	GCACAGTC others(24): Show GCACAGTCAACAATCATCATCATCATCATCAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0003 a0004c0002t0001g0003	1	4	0.2500	31	c.196 others(50): Show c.196+12534_196+12535insATGATGATGATGATGATGATTGTTGA CTGTG	CNTNAP3	ENSG00000106714.18	transcript	ENST00000297668.11	protein_coding	2/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76420196	T T	TATGTATA others(24): Show TATGTATATTCTGTAGAATATATATTAGAATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02615.hp2 others(4): Show HG02257.hp2 HG02280.hp1 HG02615.hp2 HG03209.hp1 NA19056.hp1 NA19077.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0017	a0001c0001 a0002c0002 a0003c0006 others(2): Show a0001c0001 a0002c0002 a0003c0006 a0004c0010 a0017c0036	a0001c0001t0001 a0001c0001t0004 a0002c0002t0004 others(4): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0004 a0002c0002t0010 a0003c0006t0006 a0004c0010t0002 a0017c0036t0004	a0001c0001t0001g0151 a0001c0001t0004g0191 a0002c0002t0004g0153 others(4): Show a0001c0001t0001g0151 a0001c0001t0004g0191 a0002c0002t0004g0153 a0002c0002t0010g0204 a0003c0006t0006g0205 a0004c0010t0002g0186 a0017c0036t0004g0248	7	274	0.0256	31	c.391 others(48): Show c.391-7213_391-7183dupGTAGAATATATATTAGAATAATGTATAT TCT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0216 a0002c0011t0002g0216	1	274	0.0037	31	c.133 others(50): Show c.1334-1182_1334-1181insAAAAAAAAAAAAAAAAAAAAATATAT ATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02602.hp1 HG01081.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0159 a0001c0001t0003g0235 a0001c0001t0001g0159 a0001c0001t0003g0235	2	274	0.0073	31	c.133 others(50): Show c.1334-1182_1334-1181insAAAAAAAAAAAAAAATATATATATAT ATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02698.hp1 NA18944.hp1 HG00609.hp2 HG02698.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0037 a0001c0001t0001g0148 a0001c0001t0003g0022 a0001c0001t0001g0037 a0001c0001t0001g0148 a0001c0001t0003g0022	3	274	0.0110	31	c.133 others(50): Show c.1334-1182_1334-1181insAAAAAAAAAAAAATATATATATATAT ATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19088.hp2 NA20129.hp2 NA18955.hp2 NA19088.hp2 NA20129.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0030 a0001c0001 a0016c0030	a0001c0001t0001 a0001c0001t0003 a0016c0030t0004 a0001c0001t0001 a0001c0001t0003 a0016c0030t0004	a0001c0001t0001g0200 a0001c0001t0003g0254 a0016c0030t0004g0071 a0001c0001t0001g0200 a0001c0001t0003g0254 a0016c0030t0004g0071	3	274	0.0110	31	c.133 others(50): Show c.1334-1182_1334-1181insAAAAAAAAAAATATATATATATATAT ATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03540.hp1 HG02647.hp1 HG03540.hp1	a0001 a0026 a0001 a0026	a0001c0001 a0026c0041 a0001c0001 a0026c0041	a0001c0001t0016 a0026c0041t0004 a0001c0001t0016 a0026c0041t0004	a0001c0001t0016g0088 a0026c0041t0004g0193 a0001c0001t0016g0088 a0026c0041t0004g0193	2	274	0.0073	31	c.133 others(50): Show c.1334-1182_1334-1181insAAAAAAAAATATATATATATATATAT ATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124571527	C C	CTTTTTCT others(24): Show CTTTTTCTTTTTCTCTTTTTTTTCTTTTTCTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	64	0.0156	31	c.175 others(50): Show c.1756+8209_1756+8210insCTTTTTCTCTTTTTTTTCTTTTTCTT TTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43710375	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03834.hp2 HG00735.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0368 a0001c0001t0001g0362 a0001c0001t0001g0368	2	384	0.0052	31	c.-39 others(50): Show c.-39+19053_-39+19054insATATATATATATATATATATATATAT TTTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COBL_chr7_51011212_51321809	51070392	A A	ACACACAC others(24): Show ACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0071 a0001c0002t0002g0071	1	230	0.0044	31	c.109 others(52): Show c.1096+14773_1096+14774insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTG	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02074.hp1 NA19043.hp2 HG01884.hp2 HG02074.hp1 NA19043.hp2	a0002 a0010 a0024 a0002 a0010 a0024	a0002c0019 a0010c0030 a0024c0066 a0002c0019 a0010c0030 a0024c0066	a0002c0019t0002 a0010c0030t0005 a0024c0066t0003 a0002c0019t0002 a0010c0030t0005 a0024c0066t0003	a0002c0019t0002g0120 a0010c0030t0005g0052 a0024c0066t0003g0051 a0002c0019t0002g0120 a0010c0030t0005g0052 a0024c0066t0003g0051	3	230	0.0130	31	c.958 others(50): Show c.958-12921_958-12920insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COCH_chr14_30869559_30895618	30882120	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	478	0.0021	31	c.629 others(48): Show c.629+1413_629+1414insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
COL16A1_chr1_31647263_31709017	31707385	T T	TTTTCTTT others(24): Show TTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp2 NA19068.hp2 HG02129.hp1 HG02129.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0009 a0002c0012 a0002c0002 a0002c0009 a0002c0012	a0002c0002t0002 a0002c0009t0001 a0002c0012t0001 a0002c0002t0002 a0002c0009t0001 a0002c0012t0001	a0002c0002t0002g0073 a0002c0009t0001g0064 a0002c0012t0001g0065 a0002c0002t0002g0073 a0002c0009t0001g0064 a0002c0012t0001g0065	3	342	0.0088	31	c.-35 others(42): Show c.-3584_-3583insGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3369		chr1	TogoVar
COL16A1_chr1_31647263_31709017	31707389	C C	CTTTTCTT others(24): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	342	0.0029	31	c.-35 others(42): Show c.-3588_-3587insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3373		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45483998	A A	ACACACAC others(24): Show ACACACACACCTCTCCAGCATATGTACACATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(40): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01361.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp1 HG02602.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03579.hp2 HG03942.hp2 HG04204.hp2 NA18522.hp2 NA18954.hp1 NA18961.hp2 NA18969.hp2 NA18977.hp2 NA18990.hp2 NA19010.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp2	a0001 a0006 a0016 others(4): Show a0001 a0006 a0016 a0027 a0032 a0036 a0037	a0001c0003 a0001c0007 a0001c0011 others(12): Show a0001c0003 a0001c0007 a0001c0011 a0001c0025 a0001c0032 a0001c0033 a0001c0053 a0001c0082 a0001c0089 a0006c0026 a0016c0042 a0027c0070 a0032c0052 a0036c0048 a0037c0049	a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 others(14): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0007t0002 a0001c0011t0001 a0001c0025t0002 a0001c0032t0001 a0001c0033t0002 a0001c0053t0001 a0001c0082t0008 a0001c0089t0001 a0006c0026t0001 a0016c0042t0001 a0027c0070t0001 a0032c0052t0002 a0036c0048t0004 a0037c0049t0004	a0001c0003t0001g0005 a0001c0003t0001g0043 a0001c0003t0001g0048 others(40): Show a0001c0003t0001g0005 a0001c0003t0001g0043 a0001c0003t0001g0048 a0001c0003t0001g0081 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0101 a0001c0003t0001g0145 a0001c0003t0001g0153 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0193 a0001c0003t0001g0221 a0001c0003t0001g0249 a0001c0003t0001g0254 a0001c0003t0001g0261 a0001c0003t0001g0289 a0001c0003t0003g0264 a0001c0003t0008g0166 a0001c0007t0002g0078 a0001c0007t0002g0161 a0001c0007t0002g0185 a0001c0007t0002g0194 a0001c0007t0002g0208 a0001c0007t0002g0220 a0001c0011t0001g0009 a0001c0011t0001g0016 a0001c0011t0001g0017 a0001c0025t0002g0159 a0001c0025t0002g0164 a0001c0032t0001g0147 a0001c0032t0001g0162 a0001c0033t0002g0100 a0001c0033t0002g0169 a0001c0053t0001g0244 a0001c0082t0008g0053 a0001c0089t0001g0119 a0006c0026t0001g0083 a0016c0042t0001g0118 a0027c0070t0001g0012 a0032c0052t0002g0077 a0036c0048t0004g0184 a0037c0049t0004g0183	43	292	0.1473	31	c.170 others(50): Show c.1701+1184_1701+1185insACCTCTCCAGCATATGTACACATGCA CACAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45484453	G G	GTGTGCAC others(24): Show GTGTGCACACACATGCACGCCTCTCCAGCATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG02258.hp1 HG02723.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0019 a0001c0027t0001g0020 a0001c0027t0001g0019 a0001c0027t0001g0020	2	292	0.0069	31	c.170 others(50): Show c.1701+1645_1701+1675dupTGCACGCCTCTCCAGCATATGTGCAC ACACA	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178404564	G G	GTGAAAGT others(24): Show GTGAAAGTGTGGGGTGAGGGAGGGGCTCGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(148): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG01074.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0012 a0013	a0001c0001 a0001c0004 a0001c0021 others(15): Show a0001c0001 a0001c0004 a0001c0021 a0002c0002 a0002c0003 a0002c0009 a0002c0014 a0003c0005 a0003c0007 a0004c0006 a0005c0008 a0005c0015 a0007c0019 a0008c0018 a0009c0016 a0010c0017 a0012c0012 a0013c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0021t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0013 a0002c0009t0006 a0002c0014t0003 a0003c0005t0002 a0003c0005t0003 a0003c0007t0001 a0004c0006t0003 a0005c0008t0002 a0005c0015t0002 a0007c0019t0005 a0008c0018t0003 a0009c0016t0002 a0010c0017t0003 a0012c0012t0002 a0013c0010t0002	a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0002g0048 others(148): Show a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0079 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0175 a0001c0001t0002g0189 a0001c0001t0002g0202 a0001c0001t0003g0006 a0001c0001t0003g0067 a0001c0001t0003g0119 a0001c0001t0003g0142 a0001c0001t0003g0159 a0001c0001t0003g0166 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0214 a0001c0001t0004g0011 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0037 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0054 a0001c0001t0004g0063 a0001c0001t0004g0065 a0001c0001t0004g0071 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0164 a0001c0001t0004g0184 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0005g0078 a0001c0001t0005g0113 a0001c0001t0005g0133 a0001c0001t0005g0144 a0001c0001t0005g0147 a0001c0001t0005g0161 a0001c0001t0005g0207 a0001c0001t0005g0222 a0001c0001t0006g0230 a0001c0001t0014g0224 a0001c0004t0001g0007 a0001c0004t0002g0120 a0001c0004t0004g0023 a0001c0004t0004g0110 a0001c0004t0004g0223 a0001c0021t0006g0234 a0002c0002t0001g0014 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0026 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0040 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0057 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0001g0096 a0002c0002t0001g0101 a0002c0002t0001g0176 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0186 a0002c0002t0001g0191 a0002c0002t0001g0198 a0002c0002t0001g0219 a0002c0002t0002g0149 a0002c0002t0009g0225 a0002c0003t0001g0004 a0002c0003t0001g0129 a0002c0003t0001g0152 a0002c0003t0002g0016 a0002c0003t0002g0034 a0002c0003t0002g0097 a0002c0003t0002g0112 a0002c0003t0002g0121 a0002c0003t0002g0206 a0002c0003t0002g0209 a0002c0003t0002g0211 a0002c0003t0003g0126 a0002c0003t0003g0157 a0002c0003t0003g0173 a0002c0003t0003g0195 a0002c0003t0004g0192 a0002c0003t0004g0205 a0002c0003t0004g0221 a0002c0003t0005g0115 a0002c0003t0013g0114 a0002c0009t0006g0232 a0002c0014t0003g0124 a0003c0005t0002g0163 a0003c0005t0002g0168 a0003c0005t0002g0171 a0003c0005t0003g0010 a0003c0005t0003g0125 a0003c0005t0003g0127 a0003c0005t0003g0217 a0003c0007t0001g0012 a0003c0007t0001g0013 a0003c0007t0001g0044 a0003c0007t0001g0154 a0004c0006t0003g0062 a0004c0006t0003g0128 a0004c0006t0003g0139 a0004c0006t0003g0143 a0004c0006t0003g0172 a0005c0008t0002g0003 a0005c0008t0002g0024 a0005c0008t0002g0050 a0005c0008t0002g0053 a0005c0008t0002g0090 a0005c0008t0002g0091 a0005c0008t0002g0155 a0005c0008t0002g0187 a0005c0015t0002g0017 a0007c0019t0005g0160 a0008c0018t0003g0215 a0009c0016t0002g0108 a0010c0017t0003g0018 a0012c0012t0002g0162 a0013c0010t0002g0117	151	236	0.6398	31	c.362 others(50): Show c.362-97646_362-97645insTCTCGAGCCCCTCCCTCACCCCACAC TTTCA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178404564	G G	GTGAAAGT others(24): Show GTGAAAGTGTGGGGTGAGGGAGGGGCTTGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG01884.hp1 others(35): Show HG01167.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0001 a0002c0002 a0002c0003 others(5): Show a0001c0001 a0002c0002 a0002c0003 a0002c0009 a0003c0005 a0003c0023 a0004c0006 a0011c0013	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0002c0002t0001 a0002c0002t0010 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0009t0008 a0003c0005t0002 a0003c0005t0003 a0003c0023t0010 a0004c0006t0003 a0011c0013t0005	a0001c0001t0003g0073 a0001c0001t0003g0122 a0001c0001t0003g0123 others(35): Show a0001c0001t0003g0073 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0170 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0004g0185 a0001c0001t0005g0009 a0001c0001t0005g0072 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0007g0008 a0001c0001t0007g0118 a0002c0002t0001g0141 a0002c0002t0010g0228 a0002c0003t0002g0089 a0002c0003t0002g0140 a0002c0003t0003g0088 a0002c0003t0003g0158 a0002c0003t0003g0169 a0002c0003t0005g0066 a0002c0003t0005g0068 a0002c0003t0005g0092 a0002c0003t0005g0131 a0002c0003t0005g0146 a0002c0003t0005g0151 a0002c0003t0006g0229 a0002c0003t0008g0231 a0002c0009t0008g0235 a0003c0005t0002g0005 a0003c0005t0002g0061 a0003c0005t0003g0156 a0003c0005t0003g0220 a0003c0023t0010g0236 a0004c0006t0003g0130 a0004c0006t0003g0167 a0011c0013t0005g0132	38	236	0.1610	31	c.362 others(50): Show c.362-97646_362-97645insTCTCAAGCCCCTCCCTCACCCCACAC TTTCA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585544	C C	CACAGCCC others(24): Show CACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp1 HG02451.hp1 HG03453.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0139 a0004c0006t0003g0143 a0004c0006t0003g0139 a0004c0006t0003g0143	2	236	0.0085	31	c.294 others(48): Show c.294+4359_294+4360insAGGGCATTACCCCAGCGCCATCCAGGGC TGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAAAAG others(24): Show AAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02055.hp1 HG02257.hp2	a0003 a0029 a0003 a0029	a0003c0019 a0029c0040 a0003c0019 a0029c0040	a0003c0019t0003 a0029c0040t0013 a0003c0019t0003 a0029c0040t0013	a0003c0019t0003g0070 a0029c0040t0013g0019 a0003c0019t0003g0070 a0029c0040t0013g0019	2	238	0.0084	31	c.395 others(52): Show c.3952-12751_3952-12750insCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108835861	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	130	0.0077	31	c.165 others(50): Show c.1657-3429_1657-3428insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	31/37			chr4	TogoVar
COL28A1_chr7_7352875_7540873	7365222	G G	GTACGCAG others(24): Show GTACGCAGTCAAATGTTTGTTTCTATTCTTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(84): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19011.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19084.hp2 NA19091.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0009 a0016 a0017 a0018 a0024 a0025 a0029 a0035	a0001c0001 a0001c0005 a0001c0051 others(11): Show a0001c0001 a0001c0005 a0001c0051 a0002c0002 a0003c0003 a0005c0010 a0009c0014 a0016c0018 a0017c0020 a0018c0023 a0024c0045 a0025c0046 a0029c0037 a0035c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0005t0001 a0001c0051t0008 a0002c0002t0001 a0003c0003t0001 a0003c0003t0004 a0005c0010t0001 a0009c0014t0001 a0016c0018t0001 a0017c0020t0001 a0018c0023t0003 a0024c0045t0001 a0025c0046t0001 a0029c0037t0001 a0035c0041t0001	a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0042 others(84): Show a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0002g0160 a0001c0001t0008g0174 a0001c0001t0009g0131 a0001c0001t0009g0136 a0001c0005t0001g0098 a0001c0005t0001g0099 a0001c0005t0001g0100 a0001c0051t0008g0192 a0002c0002t0001g0126 a0002c0002t0001g0147 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0004g0193 a0003c0003t0004g0194 a0003c0003t0004g0195 a0003c0003t0004g0196 a0005c0010t0001g0043 a0005c0010t0001g0092 a0005c0010t0001g0105 a0009c0014t0001g0010 a0016c0018t0001g0129 a0016c0018t0001g0144 a0017c0020t0001g0086 a0018c0023t0003g0165 a0024c0045t0001g0087 a0025c0046t0001g0142 a0029c0037t0001g0113 a0035c0041t0001g0133	87	196	0.4439	31	c.306 others(50): Show c.3067-4725_3067-4695dupACAAGAATAGAAACAAACATTTGACT GCGTA	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	33/34			chr7	TogoVar
COL2A1_chr12_47967967_48009476	47971711	T T	TATAATAT others(24): Show TATAATATATGTATATATTATTATATTGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01070.hp1 others(26): Show HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01167.hp1 HG01943.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG03139.hp1 HG03195.hp2 HG03704.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp2 NA18950.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18972.hp1 NA18981.hp1 NA18994.hp2 NA18997.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA20905.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0001c0003 a0001c0004 others(8): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0014 a0001c0042 a0003c0005 a0003c0013 a0003c0016 a0003c0020 a0007c0028	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(8): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0014t0001 a0001c0042t0001 a0003c0005t0002 a0003c0013t0001 a0003c0016t0002 a0003c0020t0002 a0007c0028t0001	a0001c0002t0001g0018 a0001c0002t0001g0167 a0001c0002t0001g0169 others(19): Show a0001c0002t0001g0018 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0003t0001g0245 a0001c0004t0001g0022 a0001c0004t0001g0048 a0001c0006t0001g0003 a0001c0006t0001g0208 a0001c0014t0001g0221 a0001c0042t0001g0186 a0003c0005t0002g0030 a0003c0005t0002g0074 a0003c0005t0002g0087 a0003c0005t0002g0093 a0003c0013t0001g0035 a0003c0013t0001g0119 a0003c0013t0001g0125 a0003c0013t0001g0126 a0003c0016t0002g0094 a0003c0020t0002g0079 a0007c0028t0001g0044	29	414	0.0701	31	c.16 others(42): Show c.1695_*1696insTATACAATATAATAATATATACATATATTAT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		1255		chr12	TogoVar
COL2A1_chr12_47967967_48009476	47971838	A A	AATATATG others(24): Show AATATATGTATATATTATTATATTGTATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0004 a0001c0026t0004	a0001c0026t0004g0232 a0001c0026t0004g0232	1	414	0.0024	31	c.15 others(42): Show c.1568_*1569insAATTATACAATATAATAATATATACATATAT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		1128		chr12	TogoVar
COL4A1_chr13_110143963_110312157	110252545	A A	ATATATAC others(24): Show ATATATACGTATAATTATACGTATATATGTAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp2 HG02723.hp1 HG02895.hp2	a0002 a0002	a0002c0004 a0002c0011 a0002c0004 a0002c0011	a0002c0004t0001 a0002c0011t0001 a0002c0004t0001 a0002c0011t0001	a0002c0004t0001g0190 a0002c0011t0001g0216 a0002c0004t0001g0190 a0002c0011t0001g0216	2	344	0.0058	31	c.85- others(46): Show c.85-9842_85-9812dupATACATATATACGTATAATTATACGTATAT A	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253632	A A	ATGTATGT others(24): Show ATGTATGTATTACATATACTTATAATTATATG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0004 a0004	a0004c0068 a0004c0068	a0004c0068t0001 a0004c0068t0001	a0004c0068t0001g0136 a0004c0068t0001g0136	1	344	0.0029	31	c.85- others(48): Show c.85-10899_85-10898insCATATAATTATAAGTATATGTAATACAT ACA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAAG others(24): Show AAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03579.hp1 HG01884.hp2 HG03579.hp1	a0002 a0002	a0002c0018 a0002c0023 a0002c0018 a0002c0023	a0002c0018t0001 a0002c0023t0003 a0002c0018t0001 a0002c0023t0003	a0002c0018t0001g0224 a0002c0023t0003g0239 a0002c0018t0001g0224 a0002c0023t0003g0239	2	344	0.0058	31	c.85- others(48): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCTTG CCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355694	A A	ACTAGCTC others(24): Show ACTAGCTCACCTGTGTGGGGGGAGGGCAGTAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02293.hp1 HG03490.hp2 HG01993.hp1 HG02293.hp1 HG03490.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0001c0014 a0002c0035 a0001c0011 a0001c0014 a0002c0035	a0001c0011t0008 a0001c0014t0001 a0002c0035t0012 a0001c0011t0008 a0001c0014t0001 a0002c0035t0012	a0001c0011t0008g0176 a0001c0014t0001g0146 a0002c0035t0012g0328 a0001c0011t0008g0176 a0001c0014t0001g0146 a0002c0035t0012g0328	3	372	0.0081	31	c.100 others(48): Show c.100-1777_100-1776insTAGCTCACCTGTGTGGGGGGAGGGCAGT ACC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481891	G G	GTTGCTGG others(24): Show GTTGCTGGAGACACACAGTTCTGTCCCTCCGT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0003 a0004c0012t0003	a0004c0012t0003g0077 a0004c0012t0003g0077	1	372	0.0027	31	c.275 others(48): Show c.2759-624_2759-623insTGCTGGAGACACACAGTTCTGTCCCTCC GTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0278 a0001c0001t0007g0278	1	344	0.0029	31	c.546 others(46): Show c.546+711_546+712insATATATATATATATATATATATATATATTT T	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(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA19240.hp1 NA18965.hp2 NA19240.hp1	a0004 a0006 a0004 a0006	a0004c0003 a0006c0031 a0004c0003 a0006c0031	a0004c0003t0003 a0006c0031t0006 a0004c0003t0003 a0006c0031t0006	a0004c0003t0003g0251 a0006c0031t0006g0081 a0004c0003t0003g0251 a0006c0031t0006g0081	2	344	0.0058	31	c.546 others(46): Show c.546+711_546+712insATATATATATATATATATATATATTTTTTT T	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(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	344	0.0029	31	c.546 others(46): Show c.546+711_546+712insATATATATATATATATATATTTTTTTTTTT T	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(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02080.hp2 NA18995.hp2 HG01934.hp2 HG02080.hp2 NA18995.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0002 a0005c0005 a0001c0001 a0003c0002 a0005c0005	a0001c0001t0001 a0003c0002t0003 a0005c0005t0007 a0001c0001t0001 a0003c0002t0003 a0005c0005t0007	a0001c0001t0001g0292 a0003c0002t0003g0123 a0005c0005t0007g0157 a0001c0001t0001g0292 a0003c0002t0003g0123 a0005c0005t0007g0157	3	344	0.0087	31	c.546 others(46): Show c.546+711_546+712insATATATATATATATATATTTTTTTTTTTTT T	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041846	A A	AAGAAGAG others(24): Show AAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	284	0.0035	31	c.350 others(48): Show c.3505+301_3505+302insCTCTCTCTCTCTCTCTCTCTCTCTCTCT TCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045806	A A	ATACACAT others(24): Show ATACACATATATATGTATATATATTTAGATAG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19082.hp1 NA18939.hp2 NA19082.hp1	a0003 a0003	a0003c0003 a0003c0027 a0003c0003 a0003c0027	a0003c0003t0031 a0003c0027t0003 a0003c0003t0031 a0003c0027t0003	a0003c0003t0031g0250 a0003c0027t0003g0133 a0003c0003t0031g0250 a0003c0027t0003g0133	2	284	0.0070	31	c.328 others(50): Show c.3289+1668_3289+1669insCTATCTAAATATATATACATATATAT GTGTA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134654989	G G	GGTGTGTA others(24): Show GGTGTGTAGGGCTGGGGGTGTGTAGAGCTGGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00642.hp2 others(6): Show HG00140.hp2 HG00323.hp2 HG00642.hp2 HG01255.hp1 HG01261.hp2 HG02559.hp1 HG03017.hp1 HG03486.hp2 NA19240.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0033 a0001c0060 a0003c0059 a0006c0040	a0001c0001t0010 a0001c0002t0001 a0001c0002t0042 others(6): Show a0001c0001t0010 a0001c0002t0001 a0001c0002t0042 a0001c0003t0015 a0001c0011t0001 a0001c0033t0006 a0001c0060t0004 a0003c0059t0040 a0006c0040t0009	a0001c0001t0010g0098 a0001c0002t0001g0236 a0001c0002t0042g0185 others(6): Show a0001c0001t0010g0098 a0001c0002t0001g0236 a0001c0002t0042g0185 a0001c0003t0015g0188 a0001c0011t0001g0191 a0001c0033t0006g0190 a0001c0060t0004g0240 a0003c0059t0040g0192 a0006c0040t0009g0189	9	272	0.0331	31	c.109 others(50): Show c.109+12718_109+12748dupAGCTGGTGTGTGTAGGGCTGGGGGTG TGTAG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134712166	T T	TCTTCTTC others(24): Show TCTTCTTCCTTTCCCCCCTCCTTCCTGCCCCC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0129 a0001c0001t0006g0129	1	272	0.0037	31	c.654 others(50): Show c.654+10834_654+10864dupCTTCTTCCTTTCCCCCCTCCTTCCTG CCCCC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134712177	T T	TCCCCCCT others(24): Show TCCCCCCTCCTTCCTGCCCCCTTCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0017 a0001c0008t0003g0017	1	272	0.0037	31	c.654 others(50): Show c.654+10850_654+10880dupCTCCTTCCTGCCCCCTTCTTCCTTTC CCCCC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45978182	A A	AATGTGAG others(24): Show AATGTGAGCGTGAGAGGAGGGAGGGGGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	128	0.0078	31	c.-36 others(42): Show c.-3669_-3668insATGTGAGCGTGAGAGGAGGGAGGGGGAGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3587		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45978248	C C	CGTGAGAG others(24): Show CGTGAGAGGAGGGAGGGGGAGAGGAGGTGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	128	0.0078	31	c.-36 others(42): Show c.-3603_-3602insGTGAGAGGAGGGAGGGGGAGAGGAGGTGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3521		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45978248	C C	CGTGAGAG others(24): Show CGTGAGAGGAGGGAGGGGGGAGAGGAGTGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	128	0.0078	31	c.-36 others(42): Show c.-3603_-3602insGTGAGAGGAGGGAGGGGGGAGAGGAGTGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3521		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45978248	C C	CGTGAGAG others(24): Show CGTGAGAGGAGGGGAGGGGGAGAGGAGTGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	128	0.0078	31	c.-36 others(42): Show c.-3603_-3602insGTGAGAGGAGGGGAGGGGGAGAGGAGTGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3521		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45978254	A A	AGGAGGGA others(24): Show AGGAGGGAGGGGGAGAGGAGTGAGGGTGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 NA19005.hp2 HG01978.hp1 NA19005.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0002 a0006c0011t0002 a0001c0001t0002 a0006c0011t0002	a0001c0001t0002g0096 a0006c0011t0002g0097 a0001c0001t0002g0096 a0006c0011t0002g0097	2	128	0.0156	31	c.-35 others(42): Show c.-3597_-3596insGGAGGGAGGGGGAGAGGAGTGAGGGTGAGAG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3515		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45978261	A A	AGGGGGAG others(24): Show AGGGGGAGAGGAGTGAGGGTGAGAGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 NA19067.hp2 HG03492.hp1 NA19067.hp2	a0001 a0019 a0001 a0019	a0001c0003 a0019c0032 a0001c0003 a0019c0032	a0001c0003t0006 a0019c0032t0002 a0001c0003t0006 a0019c0032t0002	a0001c0003t0006g0005 a0019c0032t0002g0008 a0001c0003t0006g0005 a0019c0032t0002g0008	2	128	0.0156	31	c.-35 others(42): Show c.-3590_-3589insGGGGGAGAGGAGTGAGGGTGAGAGGAGGGAG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3508		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45978271	G G	GAGTGAGG others(24): Show GAGTGAGGGTGAGAGGAGGGAGGGGGAGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0108 a0001c0003t0007g0108	1	128	0.0078	31	c.-35 others(42): Show c.-3580_-3579insAGTGAGGGTGAGAGGAGGGAGGGGGAGAGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3498		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981656	T T	TCCCGCCC others(24): Show TCCCGCCCCCCGCCCCTCCCCCTCCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	128	0.0078	31	c.-19 others(40): Show c.-195_-194insCCCGCCCCCCGCCCCTCCCCCTCCCCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		113		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981656	T T	TCCCGCCC others(24): Show TCCCGCCCCCGCCCCTCCCCTCCCCCTCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	128	0.0078	31	c.-19 others(40): Show c.-195_-194insCCCGCCCCCGCCCCTCCCCTCCCCCTCCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		113		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATAT others(24): Show ATATATATATATATATATATATTATATATATG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18975.hp1 NA18954.hp2 NA18975.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0007 a0001c0002 a0006c0007	a0001c0002t0002 a0006c0007t0002 a0001c0002t0002 a0006c0007t0002	a0001c0002t0002g0012 a0006c0007t0002g0215 a0001c0002t0002g0012 a0006c0007t0002g0215	2	322	0.0062	31	c.932 others(50): Show c.9328+1332_9328+1333insCATATATATAATATATATATATATAT ATATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A6_chr3_130512177_130682042	130636882	C C	CCCCCTCC others(24): Show CCCCCTCCCCCTCCCCTTCCTCCCCCCTTCCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp1 NA19064.hp2 HG02717.hp1 HG02976.hp1 NA19064.hp2	a0006 a0007 a0010 a0006 a0007 a0010	a0006c0007 a0007c0083 a0010c0016 a0006c0007 a0007c0083 a0010c0016	a0006c0007t0003 a0007c0083t0005 a0010c0016t0004 a0006c0007t0003 a0007c0083t0005 a0010c0016t0004	a0006c0007t0003g0182 a0007c0083t0005g0048 a0010c0016t0004g0209 a0006c0007t0003g0182 a0007c0083t0005g0048 a0010c0016t0004g0209	3	264	0.0114	31	c.509 others(50): Show c.5091+1146_5091+1147insCTTCCTCCCCTCCCCCTCCCCTTCCT CCCCC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773815	G G	GTATATAT others(24): Show GTATATATATATATATATATATATATTATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0225 a0001c0001t0028g0225	1	262	0.0038	31	c.-3- others(48): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATATA TAT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar

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