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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Select column to sort.

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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
COL4A4_chr2_226997714_227169205	227030092	ATATAT ATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02922.hp1 others(7): Show HG02145.hp2 HG02258.hp1 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp2 NA20300.hp1	a0002 a0004 a0008 others(2): Show a0002 a0004 a0008 a0013 a0021	a0002c0002 a0002c0019 a0004c0004 others(3): Show a0002c0002 a0002c0019 a0004c0004 a0008c0028 a0013c0013 a0021c0016	a0002c0002t0011 a0002c0019t0005 a0004c0004t0020 others(3): Show a0002c0002t0011 a0002c0019t0005 a0004c0004t0020 a0008c0028t0034 a0013c0013t0006 a0021c0016t0014	a0002c0002t0011g0222 a0002c0019t0005g0029 a0002c0019t0005g0166 others(7): Show a0002c0002t0011g0222 a0002c0019t0005g0029 a0002c0019t0005g0166 a0004c0004t0020g0217 a0008c0028t0034g0160 a0013c0013t0006g0144 a0013c0013t0006g0155 a0013c0013t0006g0212 a0021c0016t0014g0019 a0021c0016t0014g0278	10	284	0.0352	-5	c.397 others(22): Show c.3973+346_3973+350delATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	41/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227061728	ATATCT ATATCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02559.hp2 others(7): Show HG01884.hp2 HG02486.hp1 HG02559.hp2 HG02647.hp1 HG02809.hp1 HG02976.hp1 HG03195.hp2 HG03225.hp2 NA19043.hp1 NA19240.hp1	a0004 a0008 a0004 a0008	a0004c0004 a0004c0040 a0004c0051 others(1): Show a0004c0004 a0004c0040 a0004c0051 a0008c0008	a0004c0004t0005 a0004c0004t0037 a0004c0040t0002 others(3): Show a0004c0004t0005 a0004c0004t0037 a0004c0040t0002 a0004c0051t0005 a0008c0008t0004 a0008c0008t0009	a0004c0004t0005g0030 a0004c0004t0005g0234 a0004c0004t0037g0062 others(7): Show a0004c0004t0005g0030 a0004c0004t0005g0234 a0004c0004t0037g0062 a0004c0040t0002g0035 a0004c0051t0005g0023 a0008c0008t0004g0027 a0008c0008t0004g0161 a0008c0008t0004g0164 a0008c0008t0009g0165 a0008c0008t0009g0271	10	284	0.0352	-5	c.205 others(22): Show c.2056+797_2056+801delAGATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	26/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227071545	ATTAAC ATTAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00609.hp1 others(40): Show HG00140.hp1 HG00408.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG02071.hp2 HG02451.hp2 HG02809.hp2 HG03017.hp1 HG03471.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp2 NA18939.hp2 NA18952.hp1 NA18962.hp1 NA18975.hp1 NA18993.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0003 a0009 a0012 others(6): Show a0003 a0009 a0012 a0014 a0017 a0019 a0029 a0030 a0043	a0003c0003 a0003c0014 a0003c0026 others(10): Show a0003c0003 a0003c0014 a0003c0026 a0003c0027 a0003c0073 a0009c0009 a0012c0011 a0014c0020 a0017c0022 a0019c0025 a0029c0063 a0030c0062 a0043c0036	a0003c0003t0003 a0003c0003t0030 a0003c0003t0031 others(13): Show a0003c0003t0003 a0003c0003t0030 a0003c0003t0031 a0003c0014t0002 a0003c0026t0001 a0003c0027t0003 a0003c0073t0003 a0009c0009t0001 a0012c0011t0003 a0014c0020t0001 a0014c0020t0003 a0017c0022t0003 a0019c0025t0002 a0029c0063t0003 a0030c0062t0003 a0043c0036t0038	a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 others(40): Show a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0057 a0003c0003t0003g0071 a0003c0003t0003g0076 a0003c0003t0003g0084 a0003c0003t0003g0093 a0003c0003t0003g0099 a0003c0003t0003g0101 a0003c0003t0003g0116 a0003c0003t0003g0118 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0190 a0003c0003t0003g0223 a0003c0003t0003g0228 a0003c0003t0003g0241 a0003c0003t0003g0269 a0003c0003t0030g0169 a0003c0003t0031g0250 a0003c0014t0002g0069 a0003c0014t0002g0094 a0003c0014t0002g0242 a0003c0026t0001g0010 a0003c0027t0003g0096 a0003c0027t0003g0133 a0003c0073t0003g0018 a0009c0009t0001g0083 a0012c0011t0003g0138 a0012c0011t0003g0219 a0012c0011t0003g0231 a0012c0011t0003g0233 a0014c0020t0001g0007 a0014c0020t0003g0103 a0017c0022t0003g0254 a0017c0022t0003g0255 a0019c0025t0002g0198 a0019c0025t0002g0261 a0029c0063t0003g0082 a0030c0062t0003g0265 a0043c0036t0038g0153	43	284	0.1514	-5	c.198 others(24): Show c.1987+6344_1987+6348delGTTAA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	25/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089638	AAGGCT AAGGCT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03017.hp1 HG03491.hp1 others(11): Show HG00673.hp1 HG03017.hp1 HG03491.hp1 HG03704.hp2 HG03831.hp2 NA18939.hp2 NA19000.hp1 NA19007.hp1 NA19012.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19068.hp2 NA19087.hp2	a0003 a0019 a0029 others(2): Show a0003 a0019 a0029 a0030 a0032	a0003c0003 a0003c0014 a0003c0026 others(5): Show a0003c0003 a0003c0014 a0003c0026 a0003c0073 a0019c0025 a0029c0063 a0030c0062 a0032c0057	a0003c0003t0003 a0003c0003t0031 a0003c0014t0002 others(6): Show a0003c0003t0003 a0003c0003t0031 a0003c0014t0002 a0003c0026t0001 a0003c0073t0003 a0019c0025t0002 a0029c0063t0003 a0030c0062t0003 a0032c0057t0002	a0003c0003t0003g0006 a0003c0003t0003g0057 a0003c0003t0003g0128 others(11): Show a0003c0003t0003g0006 a0003c0003t0003g0057 a0003c0003t0003g0128 a0003c0003t0003g0130 a0003c0003t0003g0190 a0003c0003t0003g0241 a0003c0003t0031g0250 a0003c0014t0002g0242 a0003c0026t0001g0010 a0003c0073t0003g0018 a0019c0025t0002g0198 a0029c0063t0003g0082 a0030c0062t0003g0265 a0032c0057t0002g0220	14	284	0.0493	-5	c.145 others(22): Show c.1459+225_1459+229delAGCCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227106554	TTTATC TTTATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(141): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0023 a0026 a0029 a0030 a0031 a0032 a0034 a0036 a0039 a0041	a0001c0001 a0001c0072 a0002c0002 others(40): Show a0001c0001 a0001c0072 a0002c0002 a0002c0019 a0002c0058 a0002c0059 a0002c0060 a0003c0003 a0003c0014 a0003c0026 a0003c0027 a0003c0073 a0004c0004 a0004c0040 a0005c0007 a0005c0045 a0005c0046 a0005c0071 a0006c0005 a0009c0009 a0010c0018 a0011c0012 a0012c0011 a0013c0013 a0014c0020 a0015c0024 a0016c0064 a0016c0065 a0017c0022 a0018c0023 a0019c0025 a0020c0054 a0021c0016 a0023c0039 a0026c0050 a0029c0063 a0030c0062 a0031c0061 a0032c0057 a0034c0056 a0036c0055 a0039c0067 a0041c0029	a0001c0001t0001 a0001c0001t0019 a0001c0001t0023 others(52): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0072t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0026 a0002c0002t0027 a0002c0019t0005 a0002c0058t0005 a0002c0059t0025 a0002c0060t0002 a0003c0003t0003 a0003c0003t0031 a0003c0014t0002 a0003c0026t0001 a0003c0027t0003 a0003c0073t0003 a0004c0004t0002 a0004c0004t0037 a0004c0040t0002 a0005c0007t0002 a0005c0007t0005 a0005c0045t0003 a0005c0046t0005 a0005c0071t0005 a0006c0005t0004 a0009c0009t0001 a0010c0018t0004 a0011c0012t0006 a0012c0011t0003 a0013c0013t0006 a0014c0020t0001 a0015c0024t0012 a0016c0064t0005 a0016c0065t0005 a0017c0022t0003 a0018c0023t0002 a0019c0025t0002 a0020c0054t0010 a0021c0016t0014 a0023c0039t0007 a0026c0050t0001 a0029c0063t0003 a0030c0062t0003 a0031c0061t0002 a0032c0057t0002 a0034c0056t0001 a0036c0055t0029 a0039c0067t0028 a0041c0029t0004	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0031 others(140): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0262 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0019g0126 a0001c0001t0023g0131 a0001c0001t0024g0132 a0001c0072t0001g0238 a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0036 a0002c0002t0002g0051 a0002c0002t0002g0066 a0002c0002t0002g0074 a0002c0002t0002g0092 a0002c0002t0002g0112 a0002c0002t0002g0177 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0259 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0266 a0002c0002t0004g0149 a0002c0002t0005g0142 a0002c0002t0005g0215 a0002c0002t0007g0049 a0002c0002t0007g0184 a0002c0002t0007g0225 a0002c0002t0011g0222 a0002c0002t0026g0232 a0002c0002t0027g0201 a0002c0019t0005g0029 a0002c0019t0005g0166 a0002c0058t0005g0214 a0002c0059t0025g0037 a0002c0060t0002g0252 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0084 a0003c0003t0003g0093 a0003c0003t0003g0099 a0003c0003t0003g0118 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0190 a0003c0003t0003g0223 a0003c0003t0003g0241 a0003c0003t0003g0269 a0003c0003t0031g0250 a0003c0014t0002g0094 a0003c0014t0002g0242 a0003c0026t0001g0010 a0003c0026t0001g0230 a0003c0027t0003g0133 a0003c0073t0003g0018 a0004c0004t0002g0042 a0004c0004t0002g0147 a0004c0004t0002g0260 a0004c0004t0037g0062 a0004c0040t0002g0035 a0005c0007t0002g0240 a0005c0007t0005g0067 a0005c0007t0005g0121 a0005c0007t0005g0134 a0005c0045t0003g0061 a0005c0046t0005g0159 a0005c0071t0005g0237 a0006c0005t0004g0195 a0009c0009t0001g0016 a0009c0009t0001g0017 a0009c0009t0001g0055 a0010c0018t0004g0162 a0011c0012t0006g0032 a0012c0011t0003g0219 a0012c0011t0003g0231 a0012c0011t0003g0233 a0013c0013t0006g0144 a0013c0013t0006g0212 a0014c0020t0001g0007 a0015c0024t0012g0221 a0016c0064t0005g0178 a0016c0065t0005g0150 a0017c0022t0003g0254 a0017c0022t0003g0255 a0018c0023t0002g0127 a0019c0025t0002g0198 a0019c0025t0002g0261 a0020c0054t0010g0020 a0021c0016t0014g0019 a0023c0039t0007g0012 a0026c0050t0001g0081 a0029c0063t0003g0082 a0030c0062t0003g0265 a0031c0061t0002g0021 a0032c0057t0002g0220 a0034c0056t0001g0064 a0036c0055t0029g0174 a0039c0067t0028g0235 a0041c0029t0004g0026	144	284	0.5070	-5	c.735 others(22): Show c.735+2022_735+2026delGATAA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	12/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227106559	CTTATT CTTATT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01192.hp1 others(21): Show HG00639.hp2 HG01071.hp1 HG01192.hp1 HG01261.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA19240.hp1 NA19240.hp2	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0006 a0007 a0008 a0010 a0015 a0040 a0042	a0001c0001 a0001c0070 a0003c0003 others(10): Show a0001c0001 a0001c0070 a0003c0003 a0004c0004 a0004c0051 a0006c0005 a0006c0035 a0007c0006 a0008c0008 a0010c0018 a0015c0024 a0040c0074 a0042c0034	a0001c0001t0001 a0001c0001t0017 a0001c0001t0022 others(13): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0022 a0001c0070t0039 a0003c0003t0003 a0004c0004t0005 a0004c0051t0005 a0006c0005t0004 a0006c0035t0036 a0007c0006t0004 a0008c0008t0004 a0008c0008t0009 a0010c0018t0004 a0015c0024t0002 a0040c0074t0018 a0042c0034t0004	a0001c0001t0001g0034 a0001c0001t0001g0117 a0001c0001t0001g0180 others(21): Show a0001c0001t0001g0034 a0001c0001t0001g0117 a0001c0001t0001g0180 a0001c0001t0001g0258 a0001c0001t0017g0002 a0001c0001t0022g0119 a0001c0070t0039g0204 a0003c0003t0003g0116 a0004c0004t0005g0030 a0004c0051t0005g0023 a0006c0005t0004g0148 a0006c0005t0004g0156 a0006c0005t0004g0191 a0006c0005t0004g0193 a0006c0035t0036g0270 a0007c0006t0004g0171 a0007c0006t0004g0172 a0007c0006t0004g0173 a0008c0008t0004g0027 a0008c0008t0009g0271 a0010c0018t0004g0157 a0015c0024t0002g0120 a0040c0074t0018g0045 a0042c0034t0004g0274	24	284	0.0845	-5	c.735 others(22): Show c.735+2017_735+2021delAATAA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	12/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227116150	AAACGT AAACGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02630.hp1 others(8): Show HG01884.hp2 HG02258.hp1 HG02630.hp1 HG02818.hp1 HG02965.hp2 HG03209.hp2 HG03453.hp1 HG06807.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0013 a0016 a0020 a0021 a0036	a0001c0001 a0002c0019 a0004c0040 others(6): Show a0001c0001 a0002c0019 a0004c0040 a0005c0046 a0013c0013 a0016c0065 a0020c0054 a0021c0016 a0036c0055	a0001c0001t0001 a0002c0019t0005 a0004c0040t0002 others(6): Show a0001c0001t0001 a0002c0019t0005 a0004c0040t0002 a0005c0046t0005 a0013c0013t0006 a0016c0065t0005 a0020c0054t0010 a0021c0016t0014 a0036c0055t0029	a0001c0001t0001g0143 a0001c0001t0001g0194 a0002c0019t0005g0029 others(8): Show a0001c0001t0001g0143 a0001c0001t0001g0194 a0002c0019t0005g0029 a0002c0019t0005g0166 a0004c0040t0002g0035 a0005c0046t0005g0159 a0013c0013t0006g0144 a0016c0065t0005g0150 a0020c0054t0010g0020 a0021c0016t0014g0019 a0036c0055t0029g0174	11	284	0.0387	-5	c.490 others(22): Show c.490-1459_490-1455delACGTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	7/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227117809	CTAAGA CTAAGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp1 others(63): Show HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00741.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02165.hp1 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18939.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18962.hp1 NA18968.hp2 NA18971.hp2 NA18979.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19060.hp2 NA19066.hp1 NA19082.hp1 NA19084.hp1 NA20805.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0013 a0014 a0017 a0018 a0031 a0034 a0041	a0001c0001 a0002c0002 a0002c0058 others(18): Show a0001c0001 a0002c0002 a0002c0058 a0002c0059 a0002c0060 a0003c0003 a0003c0014 a0003c0027 a0004c0004 a0005c0007 a0006c0005 a0009c0009 a0010c0018 a0011c0012 a0013c0013 a0014c0020 a0017c0022 a0018c0023 a0031c0061 a0034c0056 a0041c0029	a0001c0001t0001 a0001c0001t0017 a0001c0001t0019 others(28): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0027 a0002c0058t0005 a0002c0059t0025 a0002c0060t0002 a0003c0003t0003 a0003c0003t0031 a0003c0014t0002 a0003c0027t0003 a0004c0004t0002 a0004c0004t0037 a0005c0007t0005 a0006c0005t0009 a0009c0009t0001 a0010c0018t0004 a0011c0012t0006 a0013c0013t0006 a0014c0020t0003 a0017c0022t0003 a0018c0023t0002 a0031c0061t0002 a0034c0056t0001 a0041c0029t0004	a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0044 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0249 a0001c0001t0017g0002 a0001c0001t0019g0126 a0001c0001t0023g0131 a0001c0001t0024g0132 a0002c0002t0002g0036 a0002c0002t0002g0043 a0002c0002t0002g0047 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0203 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0004g0149 a0002c0002t0005g0142 a0002c0002t0007g0184 a0002c0002t0027g0201 a0002c0058t0005g0214 a0002c0059t0025g0037 a0002c0060t0002g0252 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0099 a0003c0003t0003g0101 a0003c0003t0003g0190 a0003c0003t0003g0241 a0003c0003t0031g0250 a0003c0014t0002g0069 a0003c0014t0002g0242 a0003c0027t0003g0133 a0004c0004t0002g0042 a0004c0004t0037g0062 a0005c0007t0005g0121 a0005c0007t0005g0134 a0006c0005t0009g0283 a0009c0009t0001g0022 a0010c0018t0004g0162 a0011c0012t0006g0032 a0013c0013t0006g0212 a0014c0020t0003g0103 a0017c0022t0003g0254 a0017c0022t0003g0255 a0018c0023t0002g0127 a0031c0061t0002g0021 a0034c0056t0001g0064 a0041c0029t0004g0026	66	284	0.2324	-5	c.489 others(20): Show c.489+831_489+835delTCTTA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	7/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227121629	AACAAG AACAAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02451.hp1 HG03098.hp2 HG01106.hp1 HG02451.hp1 HG03098.hp2	a0001 a0035 a0038 a0001 a0035 a0038	a0001c0070 a0035c0037 a0038c0038 a0001c0070 a0035c0037 a0038c0038	a0001c0070t0039 a0035c0037t0016 a0038c0038t0005 a0001c0070t0039 a0035c0037t0016 a0038c0038t0005	a0001c0070t0039g0204 a0035c0037t0016g0003 a0038c0038t0005g0024 a0001c0070t0039g0204 a0035c0037t0016g0003 a0038c0038t0005g0024	3	284	0.0106	-5	c.193 others(20): Show c.193-486_193-482delCTTGT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	4/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108460656	ATTTTT ATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03098.hp1 HG02165.hp2 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0001 a0002c0009t0001 a0002c0002t0001 a0002c0009t0001	a0002c0002t0001g0015 a0002c0009t0001g0009 a0002c0002t0001g0015 a0002c0009t0001g0009	2	269	0.0074	-5	c.81+ others(22): Show c.81+20477_81+20481delTTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108502258	AGTTTT AGTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01975.hp2 HG01978.hp2 others(47): Show HG00423.hp2 HG01975.hp2 HG01978.hp2 HG02083.hp1 HG02109.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18949.hp1 NA18951.hp1 NA18957.hp2 NA18960.hp1 NA18967.hp1 NA18969.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18998.hp2 NA18999.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19068.hp1 NA19085.hp1 NA19087.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0009 a0001c0001 a0002c0002 a0002c0009	a0001c0001t0001 a0002c0002t0001 a0002c0002t0013 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0013 a0002c0009t0001	a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0177 others(47): Show a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0177 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0013g0031 a0002c0009t0001g0009	50	269	0.1859	-5	c.82- others(22): Show c.82-37452_82-37448delGTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108508557	CAAAAA CAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03486.hp1 HG03540.hp1 HG02622.hp1 HG03486.hp1 HG03540.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0012 a0002c0004t0002 a0002c0004t0012	a0002c0004t0002g0071 a0002c0004t0002g0073 a0002c0004t0012g0072 a0002c0004t0002g0071 a0002c0004t0002g0073 a0002c0004t0012g0072	3	269	0.0112	-5	c.82- others(22): Show c.82-31169_82-31165delAAAAA	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526644	CTTTCT CTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19003.hp1 HG02129.hp1 NA19003.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0093 a0004c0006t0001g0246 a0001c0001t0001g0093 a0004c0006t0001g0246	2	269	0.0074	-5	c.82- others(22): Show c.82-13099_82-13095delTCTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526660	CTTCTT CTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02129.hp1 HG02165.hp2 others(8): Show HG00642.hp1 HG02129.hp1 HG02165.hp2 HG03041.hp2 HG03130.hp1 NA18612.hp1 NA18957.hp2 NA18969.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0006 others(1): Show a0001c0001 a0002c0002 a0004c0006 a0005c0007	a0001c0001t0001 a0002c0002t0001 a0002c0002t0013 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0013 a0004c0006t0001 a0005c0007t0001	a0001c0001t0001g0093 a0001c0001t0001g0096 a0002c0002t0001g0015 others(8): Show a0001c0001t0001g0093 a0001c0001t0001g0096 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0028 a0002c0002t0001g0035 a0002c0002t0001g0039 a0002c0002t0001g0267 a0002c0002t0013g0031 a0004c0006t0001g0246 a0005c0007t0001g0260	11	269	0.0409	-5	c.82- others(22): Show c.82-13084_82-13080delTCTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108623225	GCTGTA GCTGTA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0218 a0001c0003t0001g0218	1	269	0.0037	-5	c.291 others(22): Show c.2917+404_2917+408delTACTG	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	33/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108636939	CTTTTT CTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03516.hp2 NA19030.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0001 a0002c0009t0001 a0002c0002t0001 a0002c0009t0001	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0005 others(15): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0070 a0002c0002t0001g0268 a0002c0009t0001g0009	18	269	0.0669	-5	c.324 others(26): Show c.3246+10609_3246+10613delTTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	36/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108698347	GTTTGT GTTTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02976.hp2 others(5): Show HG02895.hp1 HG02897.hp1 HG02976.hp2 HG03516.hp1 NA18522.hp1 NA18969.hp2 NA18995.hp1 NA19003.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0003t0001 a0003c0005t0001 a0001c0001t0001 a0001c0003t0001 a0003c0005t0001	a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0080 others(5): Show a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0167 a0001c0003t0001g0062 a0001c0003t0001g0063 a0003c0005t0001g0112	8	269	0.0297	-5	c.19 others(16): Show c.1970_*1974delTTTGT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding		803		chrX	TogoVar
COL4A6_chrX_108150614_108443422	108292969	AGAAAG AGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0227 a0002c0002t0002g0227	1	234	0.0043	-5	c.144 others(24): Show c.144+17774_144+17778delCTTTC	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108292993	CAAAAA CAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02055.hp1 HG02258.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0016 a0003c0004 a0005c0016	a0003c0004t0006 a0005c0016t0001 a0003c0004t0006 a0005c0016t0001	a0003c0004t0006g0058 a0005c0016t0001g0007 a0003c0004t0006g0058 a0005c0016t0001g0007	2	234	0.0086	-5	c.144 others(24): Show c.144+17750_144+17754delTTTTT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108309800	AAACAC AAACAC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG04184.hp2 HG03516.hp1 HG04184.hp2	a0013 a0015 a0013 a0015	a0013c0021 a0015c0022 a0013c0021 a0015c0022	a0013c0021t0001 a0015c0022t0009 a0013c0021t0001 a0015c0022t0009	a0013c0021t0001g0110 a0015c0022t0009g0109 a0013c0021t0001g0110 a0015c0022t0009g0109	2	234	0.0086	-5	c.144 others(20): Show c.144+943_144+947delGTGTT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343155	ATATAT ATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	234	0.0043	-5	c.64- others(22): Show c.64-32332_64-32328delATATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343165	AGTGTG AGTGTG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	234	0.0043	-5	c.64- others(22): Show c.64-32342_64-32338delCACAC	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108398579	AAAATT AAAATT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	234	0.0043	-5	c.63+ others(22): Show c.63+39358_63+39362delAATTT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108406011	AGGCTG AGGCTG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03486.hp2 HG03540.hp1 HG02622.hp2 HG03486.hp2 HG03540.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0009 a0004c0006t0001g0010 a0004c0006t0001g0011 a0004c0006t0001g0009 a0004c0006t0001g0010 a0004c0006t0001g0011	3	234	0.0128	-5	c.63+ others(22): Show c.63+31926_63+31930delCAGCC	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL5A1_chr9_134636803_134849843	134658601	CGGAGA CGGAGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01943.hp1 HG02451.hp1 others(7): Show HG01243.hp1 HG01943.hp1 HG02451.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp1 HG03471.hp1 HG03669.hp2 HG06807.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0015 a0013c0055	a0001c0001t0009 a0001c0003t0003 a0001c0003t0010 others(7): Show a0001c0001t0009 a0001c0003t0003 a0001c0003t0010 a0001c0005t0009 a0001c0005t0014 a0001c0005t0045 a0001c0005t0050 a0001c0009t0001 a0001c0015t0001 a0013c0055t0007	a0001c0001t0009g0233 a0001c0003t0003g0255 a0001c0003t0010g0259 others(7): Show a0001c0001t0009g0233 a0001c0003t0003g0255 a0001c0003t0010g0259 a0001c0005t0009g0256 a0001c0005t0014g0258 a0001c0005t0045g0267 a0001c0005t0050g0271 a0001c0009t0001g0198 a0001c0015t0001g0268 a0013c0055t0007g0257	10	272	0.0368	-5	c.109 others(24): Show c.109+16308_109+16312delAGAGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134669235	TCCTTC TCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG01081.hp1 others(12): Show HG00323.hp2 HG00438.hp1 HG01081.hp1 HG01255.hp1 HG01255.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG03486.hp2 HG03540.hp1 NA21309.hp1	a0001 a0006 a0014 a0001 a0006 a0014	a0001c0001 a0001c0003 a0001c0005 others(10): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0026 a0001c0032 a0001c0033 a0001c0065 a0006c0040 a0014c0053	a0001c0001t0010 a0001c0001t0012 a0001c0001t0059 others(12): Show a0001c0001t0010 a0001c0001t0012 a0001c0001t0059 a0001c0003t0008 a0001c0005t0006 a0001c0006t0010 a0001c0007t0023 a0001c0008t0002 a0001c0011t0001 a0001c0026t0006 a0001c0032t0010 a0001c0033t0006 a0001c0065t0003 a0006c0040t0009 a0014c0053t0029	a0001c0001t0010g0098 a0001c0001t0012g0242 a0001c0001t0059g0093 others(12): Show a0001c0001t0010g0098 a0001c0001t0012g0242 a0001c0001t0059g0093 a0001c0003t0008g0187 a0001c0005t0006g0040 a0001c0006t0010g0031 a0001c0007t0023g0232 a0001c0008t0002g0092 a0001c0011t0001g0191 a0001c0026t0006g0101 a0001c0032t0010g0238 a0001c0033t0006g0190 a0001c0065t0003g0009 a0006c0040t0009g0189 a0014c0053t0029g0134	15	272	0.0552	-5	c.110 others(24): Show c.110-21623_110-21619delTCCCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134703627	GTTTTT GTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp1 HG01255.hp2 others(10): Show HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG02897.hp2 HG03017.hp1 HG03490.hp2 HG03492.hp2 HG04199.hp1 HG04204.hp1 NA19240.hp1 NA20752.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0003c0021 a0003c0038 a0003c0059	a0001c0001t0001 a0001c0001t0004 a0001c0001t0059 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0059 a0001c0003t0015 a0001c0003t0025 a0001c0004t0018 a0001c0005t0045 a0001c0012t0051 a0003c0021t0001 a0003c0038t0001 a0003c0059t0040	a0001c0001t0001g0147 a0001c0001t0004g0173 a0001c0001t0004g0174 others(10): Show a0001c0001t0001g0147 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0059g0093 a0001c0003t0015g0188 a0001c0003t0025g0218 a0001c0004t0018g0208 a0001c0005t0045g0267 a0001c0012t0051g0086 a0003c0021t0001g0157 a0003c0021t0001g0166 a0003c0038t0001g0136 a0003c0059t0040g0192	13	272	0.0478	-5	c.654 others(22): Show c.654+2318_654+2322delTTTTT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189051642	CAAAAG CAAAAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01106.hp2 others(36): Show HG00280.hp1 HG00597.hp1 HG01106.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02135.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp2 HG02897.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18950.hp1 NA18960.hp1 NA18965.hp2 NA18969.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA19007.hp1 NA19030.hp2 NA19057.hp1 NA19062.hp2 NA19070.hp1 NA19084.hp2 NA19091.hp2 NA21309.hp2	a0001 a0010 a0011 others(2): Show a0001 a0010 a0011 a0013 a0015	a0001c0001 a0001c0002 a0001c0021 others(5): Show a0001c0001 a0001c0002 a0001c0021 a0001c0030 a0010c0024 a0011c0023 a0013c0017 a0015c0022	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0014 a0001c0002t0020 a0001c0021t0002 a0001c0030t0016 a0010c0024t0004 a0011c0023t0004 a0013c0017t0006 a0015c0022t0002	a0001c0001t0001g0030 a0001c0001t0001g0163 a0001c0001t0004g0005 others(36): Show a0001c0001t0001g0030 a0001c0001t0001g0163 a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0081 a0001c0001t0004g0149 a0001c0001t0004g0193 a0001c0001t0004g0221 a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0033 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0052 a0001c0002t0002g0060 a0001c0002t0002g0092 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0014g0242 a0001c0002t0014g0244 a0001c0002t0020g0038 a0001c0021t0002g0142 a0001c0030t0016g0017 a0010c0024t0004g0065 a0011c0023t0004g0117 a0013c0017t0006g0034 a0015c0022t0002g0035	39	248	0.1573	-5	c.277 others(22): Show c.2770-166_2770-162delCTTTT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	41/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189106717	TTTAAG TTTAAG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show HG00280.hp1 HG00597.hp1 HG01081.hp2 HG01106.hp2 HG01192.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp2 HG02897.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18950.hp1 NA18960.hp1 NA18965.hp2 NA18969.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA19007.hp1 NA19030.hp2 NA19057.hp1 NA19062.hp2 NA19065.hp1 NA19070.hp1 NA19084.hp2 NA19091.hp2 NA21309.hp2	a0001 a0002 a0009 others(4): Show a0001 a0002 a0009 a0010 a0011 a0013 a0015	a0001c0001 a0001c0002 a0001c0021 others(7): Show a0001c0001 a0001c0002 a0001c0021 a0001c0030 a0002c0006 a0009c0016 a0010c0024 a0011c0023 a0013c0017 a0015c0022	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0014 a0001c0002t0020 a0001c0021t0002 a0001c0030t0016 a0002c0006t0005 a0002c0006t0017 a0009c0016t0006 a0010c0024t0004 a0011c0023t0004 a0013c0017t0006 a0015c0022t0002	a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0081 a0001c0001t0004g0149 a0001c0001t0004g0193 a0001c0001t0004g0221 a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0033 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0052 a0001c0002t0002g0060 a0001c0002t0002g0092 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0014g0242 a0001c0002t0014g0244 a0001c0002t0020g0038 a0001c0021t0002g0142 a0001c0030t0016g0017 a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 a0009c0016t0006g0130 a0010c0024t0004g0065 a0011c0023t0004g0117 a0013c0017t0006g0034 a0015c0022t0002g0035	42	248	0.1694	-5	c.323 others(22): Show c.323-2445_323-2441delCTTAA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	2/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189151805	CTTTGG CTTTGG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG03098.hp1 HG02630.hp1 HG02809.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043	3	248	0.0121	-5	c.97+ others(22): Show c.97+27698_97+27702delCCAAA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	1/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9956800	CAAAAA CAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(61): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00673.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03704.hp1 HG04115.hp1 HG04199.hp2 NA18522.hp1 NA18940.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA19000.hp2 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19079.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0004 others(23): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0013 a0014 a0021 a0024 a0025 a0027 a0029 a0032 a0039 a0041 a0045 a0047 a0056 a0061 a0063 a0071 a0075	a0001c0001 a0002c0020 a0004c0010 others(26): Show a0001c0001 a0002c0020 a0004c0010 a0004c0013 a0004c0108 a0005c0005 a0006c0081 a0007c0021 a0007c0032 a0008c0004 a0011c0006 a0012c0025 a0013c0008 a0014c0012 a0021c0038 a0024c0039 a0025c0031 a0027c0054 a0029c0124 a0032c0085 a0039c0067 a0041c0063 a0045c0071 a0047c0133 a0056c0121 a0061c0109 a0063c0134 a0071c0095 a0075c0091	a0001c0001t0001 a0001c0001t0004 a0002c0020t0001 others(28): Show a0001c0001t0001 a0001c0001t0004 a0002c0020t0001 a0004c0010t0004 a0004c0010t0023 a0004c0013t0004 a0004c0108t0004 a0005c0005t0001 a0006c0081t0001 a0007c0021t0008 a0007c0032t0008 a0008c0004t0001 a0011c0006t0006 a0012c0025t0001 a0013c0008t0001 a0014c0012t0001 a0021c0038t0001 a0024c0039t0014 a0025c0031t0004 a0027c0054t0013 a0029c0124t0001 a0032c0085t0012 a0039c0067t0002 a0041c0063t0012 a0045c0071t0004 a0047c0133t0001 a0056c0121t0001 a0061c0109t0004 a0063c0134t0001 a0071c0095t0002 a0075c0091t0004	a0001c0001t0001g0150 a0001c0001t0001g0322 a0001c0001t0004g0080 others(60): Show a0001c0001t0001g0150 a0001c0001t0001g0322 a0001c0001t0004g0080 a0001c0001t0004g0084 a0002c0020t0001g0232 a0004c0010t0004g0033 a0004c0010t0004g0157 a0004c0010t0004g0159 a0004c0010t0004g0160 a0004c0010t0004g0161 a0004c0010t0004g0162 a0004c0010t0023g0034 a0004c0013t0004g0083 a0004c0013t0004g0098 a0004c0013t0004g0099 a0004c0013t0004g0308 a0004c0108t0004g0362 a0005c0005t0001g0107 a0006c0081t0001g0166 a0007c0021t0008g0002 a0007c0021t0008g0393 a0007c0021t0008g0396 a0007c0021t0008g0398 a0007c0032t0008g0037 a0007c0032t0008g0128 a0008c0004t0001g0022 a0011c0006t0006g0189 a0012c0025t0001g0151 a0013c0008t0001g0044 a0013c0008t0001g0045 a0013c0008t0001g0046 a0013c0008t0001g0047 a0013c0008t0001g0048 a0013c0008t0001g0049 a0013c0008t0001g0050 a0013c0008t0001g0051 a0013c0008t0001g0052 a0013c0008t0001g0405 a0014c0012t0001g0200 a0014c0012t0001g0201 a0014c0012t0001g0202 a0014c0012t0001g0203 a0014c0012t0001g0204 a0014c0012t0001g0205 a0014c0012t0001g0332 a0021c0038t0001g0108 a0021c0038t0001g0111 a0024c0039t0014g0182 a0024c0039t0014g0192 a0025c0031t0004g0131 a0027c0054t0013g0004 a0027c0054t0013g0005 a0029c0124t0001g0217 a0032c0085t0012g0146 a0039c0067t0002g0335 a0041c0063t0012g0190 a0045c0071t0004g0155 a0047c0133t0001g0367 a0056c0121t0001g0406 a0061c0109t0004g0081 a0063c0134t0001g0304 a0071c0095t0002g0036 a0075c0091t0004g0014	64	412	0.1553	-5	c.36 others(16): Show c.3606_*3610delTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding		2760		chr19	TogoVar
COL5A3_chr19_9954561_10015504	9964854	TAAAAA TAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02258.hp1 others(12): Show HG01884.hp1 HG01884.hp2 HG02258.hp1 HG02647.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp1 NA19080.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0007 a0013 others(2): Show a0001 a0007 a0013 a0014 a0021	a0001c0033 a0007c0032 a0013c0008 others(2): Show a0001c0033 a0007c0032 a0013c0008 a0014c0012 a0021c0038	a0001c0033t0002 a0007c0032t0008 a0013c0008t0001 others(2): Show a0001c0033t0002 a0007c0032t0008 a0013c0008t0001 a0014c0012t0001 a0021c0038t0001	a0001c0033t0002g0153 a0007c0032t0008g0037 a0007c0032t0008g0128 others(12): Show a0001c0033t0002g0153 a0007c0032t0008g0037 a0007c0032t0008g0128 a0013c0008t0001g0044 a0013c0008t0001g0046 a0013c0008t0001g0050 a0013c0008t0001g0051 a0014c0012t0001g0200 a0014c0012t0001g0201 a0014c0012t0001g0203 a0014c0012t0001g0204 a0014c0012t0001g0205 a0014c0012t0001g0332 a0021c0038t0001g0108 a0021c0038t0001g0111	15	412	0.0364	-5	c.478 others(24): Show c.4782+1455_4782+1459delTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9984942	ATTTTT ATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01516.hp2 HG01517.hp1 others(6): Show HG01175.hp1 HG01516.hp2 HG01517.hp1 HG01993.hp2 HG02109.hp1 HG02809.hp2 HG03486.hp1 HG03669.hp1 HG03834.hp1	a0007 a0010 a0022 others(3): Show a0007 a0010 a0022 a0025 a0046 a0057	a0007c0032 a0007c0138 a0010c0140 others(4): Show a0007c0032 a0007c0138 a0010c0140 a0022c0030 a0025c0031 a0046c0075 a0057c0141	a0007c0032t0008 a0007c0138t0003 a0010c0140t0001 others(5): Show a0007c0032t0008 a0007c0138t0003 a0010c0140t0001 a0022c0030t0002 a0025c0031t0001 a0025c0031t0004 a0046c0075t0007 a0057c0141t0002	a0007c0032t0008g0128 a0007c0138t0003g0064 a0010c0140t0001g0063 others(6): Show a0007c0032t0008g0128 a0007c0138t0003g0064 a0010c0140t0001g0063 a0022c0030t0002g0195 a0025c0031t0001g0296 a0025c0031t0001g0297 a0025c0031t0004g0131 a0046c0075t0007g0053 a0057c0141t0002g0067	9	412	0.0218	-5	c.240 others(22): Show c.2406+895_2406+899delAAAAA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	10000452	CTTTTT CTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03209.hp2 NA18942.hp2 others(8): Show HG02922.hp1 HG03209.hp2 NA18942.hp2 NA18951.hp2 NA18964.hp1 NA18969.hp1 NA18985.hp1 NA19012.hp1 NA19056.hp2 NA19066.hp1 NA19067.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0032 a0058	a0001c0001 a0002c0002 a0002c0034 others(4): Show a0001c0001 a0002c0002 a0002c0034 a0002c0130 a0004c0010 a0032c0085 a0058c0132	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0034t0002 a0002c0130t0001 a0004c0010t0004 a0032c0085t0012 a0058c0132t0020	a0001c0001t0001g0219 a0002c0002t0001g0313 a0002c0002t0001g0315 others(8): Show a0001c0001t0001g0219 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0002g0218 a0002c0002t0002g0312 a0002c0002t0002g0316 a0002c0034t0002g0163 a0002c0130t0001g0314 a0004c0010t0004g0162 a0032c0085t0012g0146 a0058c0132t0020g0208	11	412	0.0267	-5	c.111 others(24): Show c.1110+1067_1110+1071delAAAAA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	8/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45980583	TGTCTG TGTCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02717.hp2 HG02895.hp2 HG02451.hp1 HG02717.hp2 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0001c0009 a0002c0002	a0001c0009t0002 a0002c0002t0010 a0001c0009t0002 a0002c0002t0010	a0001c0009t0002g0048 a0001c0009t0002g0086 a0002c0002t0010g0039 a0001c0009t0002g0048 a0001c0009t0002g0086 a0002c0002t0010g0039	3	128	0.0234	-5	c.-12 others(16): Show c.-1267_-1263delGTCTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1186		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981675	GCCCCT GCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01978.hp2 HG03927.hp1 HG00544.hp1 HG01978.hp2 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0002t0008 a0002c0008t0001 a0002c0002t0001 a0002c0002t0008 a0002c0008t0001	a0002c0002t0001g0126 a0002c0002t0008g0051 a0002c0008t0001g0077 a0002c0002t0001g0126 a0002c0002t0008g0051 a0002c0008t0001g0077	3	128	0.0234	-5	c.-17 others(14): Show c.-175_-171delCCCCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		94		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46099455	CAAAAA CAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp1 HG01346.hp2 others(6): Show HG00423.hp1 HG00738.hp1 HG01346.hp2 NA18949.hp2 NA18955.hp2 NA18972.hp2 NA18979.hp1 NA18981.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013	a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 a0001c0005t0001 a0001c0013t0002	a0001c0001t0001g0274 a0001c0002t0002g0272 a0001c0002t0002g0273 others(6): Show a0001c0001t0001g0274 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0332 a0001c0002t0009g0256 a0001c0005t0001g0264 a0001c0013t0002g0275	9	372	0.0242	-5	c.-28 others(22): Show c.-28+1305_-28+1309delAAAAA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46113375	CTTTTA CTTTTA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03516.hp1 NA19240.hp1 HG02723.hp2 HG03516.hp1 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0004 a0003c0004t0002 a0003c0004t0004	a0003c0004t0002g0044 a0003c0004t0004g0211 a0003c0004t0004g0213 a0003c0004t0002g0044 a0003c0004t0004g0211 a0003c0004t0004g0213	3	372	0.0081	-5	c.735 others(20): Show c.735+553_735+557delTTTAT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134387	GTCAGA GTCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01516.hp1 HG01517.hp2 others(6): Show HG01243.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02897.hp1 HG03239.hp2 HG03453.hp1 HG04199.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0001c0027 a0003c0007 others(1): Show a0001c0006 a0001c0027 a0003c0007 a0003c0033	a0001c0006t0005 a0001c0006t0006 a0001c0027t0003 others(2): Show a0001c0006t0005 a0001c0006t0006 a0001c0027t0003 a0003c0007t0007 a0003c0033t0007	a0001c0006t0005g0237 a0001c0006t0005g0238 a0001c0006t0006g0266 others(5): Show a0001c0006t0005g0237 a0001c0006t0005g0238 a0001c0006t0006g0266 a0001c0027t0003g0252 a0003c0007t0007g0013 a0003c0007t0007g0043 a0003c0007t0007g0203 a0003c0033t0007g0202	9	372	0.0242	-5	c.48 others(16): Show c.4897_*4901delTCAGA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4587		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134391	GATTTA GATTTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02886.hp2 HG02965.hp2 others(2): Show HG02559.hp2 HG02886.hp2 HG02965.hp2 HG03579.hp1 NA18949.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0002c0003 a0003c0007 a0001c0006 a0002c0003 a0003c0007	a0001c0006t0006 a0002c0003t0006 a0003c0007t0007 a0001c0006t0006 a0002c0003t0006 a0003c0007t0007	a0001c0006t0006g0250 a0001c0006t0006g0267 a0001c0006t0006g0268 others(2): Show a0001c0006t0006g0250 a0001c0006t0006g0267 a0001c0006t0006g0268 a0002c0003t0006g0067 a0003c0007t0007g0048	5	372	0.0134	-5	c.49 others(16): Show c.4901_*4905delATTTA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4591		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134403	GGTTTA GGTTTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02886.hp2 HG02896.hp2 others(4): Show HG02559.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03579.hp1 NA18949.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0002c0003 a0003c0007 a0001c0006 a0002c0003 a0003c0007	a0001c0006t0006 a0002c0003t0006 a0003c0007t0007 a0001c0006t0006 a0002c0003t0006 a0003c0007t0007	a0001c0006t0006g0248 a0001c0006t0006g0249 a0001c0006t0006g0250 others(4): Show a0001c0006t0006g0248 a0001c0006t0006g0249 a0001c0006t0006g0250 a0001c0006t0006g0267 a0001c0006t0006g0268 a0002c0003t0006g0067 a0003c0007t0007g0048	7	372	0.0188	-5	c.49 others(16): Show c.4913_*4917delGTTTA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4603		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46099455	CAAAAA CAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp1 HG01346.hp2 others(5): Show HG00423.hp1 HG00738.hp1 HG01346.hp2 NA18949.hp2 NA18955.hp2 NA18979.hp1 NA18981.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0009 a0001c0002 a0001c0004 a0001c0009	a0001c0002t0002 a0001c0004t0001 a0001c0009t0001 a0001c0002t0002 a0001c0004t0001 a0001c0009t0001	a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 others(5): Show a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0329 a0001c0004t0001g0261 a0001c0009t0001g0253	8	364	0.0220	-5	c.-28 others(22): Show c.-28+1305_-28+1309delAAAAA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46113375	CTTTTA CTTTTA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03516.hp1 NA19240.hp1 HG02723.hp2 HG03516.hp1 NA19240.hp1	a0003 a0003	a0003c0010 a0003c0063 a0003c0010 a0003c0063	a0003c0010t0001 a0003c0063t0001 a0003c0010t0001 a0003c0063t0001	a0003c0010t0001g0207 a0003c0010t0001g0209 a0003c0063t0001g0046 a0003c0010t0001g0207 a0003c0010t0001g0209 a0003c0063t0001g0046	3	364	0.0082	-5	c.735 others(20): Show c.735+553_735+557delTTTAT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134387	GTCAGA GTCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01516.hp1 HG01517.hp2 others(6): Show HG01243.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02897.hp1 HG03239.hp2 HG03453.hp1 HG04199.hp2 NA19030.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0007 a0001c0026 a0001c0046 others(3): Show a0001c0007 a0001c0026 a0001c0046 a0003c0008 a0003c0054 a0008c0027	a0001c0007t0003 a0001c0026t0005 a0001c0046t0001 others(3): Show a0001c0007t0003 a0001c0026t0005 a0001c0046t0001 a0003c0008t0003 a0003c0054t0003 a0008c0027t0003	a0001c0007t0003g0263 a0001c0026t0005g0233 a0001c0026t0005g0234 others(5): Show a0001c0007t0003g0263 a0001c0026t0005g0233 a0001c0026t0005g0234 a0001c0046t0001g0249 a0003c0008t0003g0045 a0003c0008t0003g0199 a0003c0054t0003g0198 a0008c0027t0003g0013	9	364	0.0247	-5	c.18 others(16): Show c.1836_*1840delTCAGA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1540		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134391	GATTTA GATTTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02886.hp2 HG02965.hp2 others(2): Show HG02559.hp2 HG02886.hp2 HG02965.hp2 HG03579.hp1 NA18949.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0002c0013 a0003c0008 a0001c0007 a0002c0013 a0003c0008	a0001c0007t0003 a0002c0013t0003 a0003c0008t0003 a0001c0007t0003 a0002c0013t0003 a0003c0008t0003	a0001c0007t0003g0247 a0001c0007t0003g0264 a0001c0007t0003g0265 others(2): Show a0001c0007t0003g0247 a0001c0007t0003g0264 a0001c0007t0003g0265 a0002c0013t0003g0069 a0003c0008t0003g0050	5	364	0.0137	-5	c.18 others(16): Show c.1840_*1844delATTTA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1544		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134403	GGTTTA GGTTTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02886.hp2 HG02897.hp2 others(3): Show HG02559.hp2 HG02886.hp2 HG02897.hp2 HG02965.hp2 HG03579.hp1 NA18949.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0002c0013 a0003c0008 a0001c0007 a0002c0013 a0003c0008	a0001c0007t0003 a0002c0013t0003 a0003c0008t0003 a0001c0007t0003 a0002c0013t0003 a0003c0008t0003	a0001c0007t0003g0246 a0001c0007t0003g0247 a0001c0007t0003g0264 others(3): Show a0001c0007t0003g0246 a0001c0007t0003g0247 a0001c0007t0003g0264 a0001c0007t0003g0265 a0002c0013t0003g0069 a0003c0008t0003g0050	6	364	0.0165	-5	c.18 others(16): Show c.1852_*1856delGTTTA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1556		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332102	TATATA TATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG04199.hp2 NA18960.hp1 others(2): Show HG00438.hp1 HG04199.hp2 NA18960.hp1 NA18960.hp2 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0134 a0001c0002 a0001c0004 a0001c0134	a0001c0002t0001 a0001c0004t0002 a0001c0134t0001 a0001c0002t0001 a0001c0004t0002 a0001c0134t0001	a0001c0002t0001g0092 a0001c0004t0002g0229 a0001c0004t0002g0230 others(2): Show a0001c0002t0001g0092 a0001c0004t0002g0229 a0001c0004t0002g0230 a0001c0004t0002g0235 a0001c0134t0001g0011	5	322	0.0155	-5	c.932 others(24): Show c.9328+1343_9328+1347delTATAT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130354085	AAAAAG AAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show HG00140.hp2 HG01361.hp2 HG02738.hp1 HG03831.hp2 HG03834.hp2	a0013 a0013	a0013c0016 a0013c0075 a0013c0016 a0013c0075	a0013c0016t0010 a0013c0075t0016 a0013c0016t0010 a0013c0075t0016	a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 others(2): Show a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 a0013c0016t0010g0016 a0013c0075t0016g0012	5	292	0.0171	-5	c.-29 others(22): Show c.-29+8112_-29+8116delAAGAA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130475031	GGAAAA GGAAAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG01257.hp2 others(1): Show HG00544.hp1 HG00597.hp2 HG01257.hp2 HG02257.hp2	a0008 a0009 a0047 a0008 a0009 a0047	a0008c0010 a0009c0009 a0047c0084 a0008c0010 a0009c0009 a0047c0084	a0008c0010t0001 a0008c0010t0005 a0009c0009t0002 others(1): Show a0008c0010t0001 a0008c0010t0005 a0009c0009t0002 a0047c0084t0002	a0008c0010t0001g0141 a0008c0010t0005g0045 a0009c0009t0002g0097 others(1): Show a0008c0010t0001g0141 a0008c0010t0005g0045 a0009c0009t0002g0097 a0047c0084t0002g0271	4	292	0.0137	-5	c.781 others(24): Show c.7819+3121_7819+3125delGAAAA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130482365	CATTAT CATTAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show HG00140.hp2 HG01169.hp2 HG01361.hp2 HG02738.hp1 HG03017.hp2 HG03831.hp2 HG03834.hp2 NA18982.hp1 NA18989.hp2 NA18995.hp1 NA19005.hp1 NA19062.hp1 NA19080.hp1 NA19083.hp1	a0011 a0013 a0014 others(1): Show a0011 a0013 a0014 a0053	a0011c0012 a0013c0016 a0013c0075 others(2): Show a0011c0012 a0013c0016 a0013c0075 a0014c0013 a0053c0092	a0011c0012t0002 a0013c0016t0001 a0013c0016t0010 others(3): Show a0011c0012t0002 a0013c0016t0001 a0013c0016t0010 a0013c0075t0016 a0014c0013t0001 a0053c0092t0002	a0011c0012t0002g0195 a0013c0016t0001g0144 a0013c0016t0010g0013 others(11): Show a0011c0012t0002g0195 a0013c0016t0001g0144 a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 a0013c0016t0010g0016 a0013c0075t0016g0012 a0014c0013t0001g0098 a0014c0013t0001g0115 a0014c0013t0001g0143 a0014c0013t0001g0145 a0014c0013t0001g0146 a0014c0013t0001g0148 a0053c0092t0002g0192	14	292	0.0480	-5	c.782 others(24): Show c.7820-1669_7820-1665delATTAT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/40			chr3	TogoVar

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