JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL4A3_chr2_227159624_227319792	227203489	G G	GTATATGT others(23): Show GTATATGTGTATATATACATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0005 a0007c0006t0005	a0007c0006t0005g0235 a0007c0006t0005g0235	1	344	0.0029	30	c.88- others(47): Show c.88-34203_88-34174dupGTGTATATATACATATATGTGTGTATAT AT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	344	0.0029	30	c.546 others(45): Show c.546+711_546+712insATATATATATATATATATATATATATTTTT	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(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	344	0.0029	30	c.546 others(45): Show c.546+711_546+712insATATATATATATATATATATTTTTTTTTTT	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(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 NA19240.hp2 HG02615.hp1 HG02723.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0005g0051 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0005g0051	3	344	0.0087	30	c.546 others(45): Show c.546+711_546+712insATATATATATATATATATTTTTTTTTTTTT	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(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA20805.hp1 HG03098.hp2 NA20805.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0021 a0001c0001 a0011c0021	a0001c0001t0002 a0011c0021t0003 a0001c0001t0002 a0011c0021t0003	a0001c0001t0002g0266 a0011c0021t0003g0323 a0001c0001t0002g0266 a0011c0021t0003g0323	2	344	0.0058	30	c.546 others(45): Show c.546+711_546+712insATATATATATATATATTTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089588	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	284	0.0035	30	c.145 others(47): Show c.1459+279_1459+280insATATATATATATATATATATATATATAT AT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089611	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19030.hp2 HG03041.hp1 NA19030.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0004 a0007c0006t0035 a0007c0006t0004 a0007c0006t0035	a0007c0006t0004g0176 a0007c0006t0035g0163 a0007c0006t0004g0176 a0007c0006t0035g0163	2	284	0.0070	30	c.145 others(47): Show c.1459+256_1459+257insCATATATATATATATATATATATATATA TA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227138133	A A	AAATAATA others(23): Show AAATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0039 a0001c0070t0039	a0001c0070t0039g0204 a0001c0070t0039g0204	1	284	0.0035	30	c.192 others(47): Show c.192+2027_192+2028insATTATTATTATTATTATTATTATTATTA TT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	4/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134669212	T T	TTTCCCTT others(23): Show TTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	272	0.0037	30	c.110 others(49): Show c.110-21678_110-21677insCCCTTCCCTTCCCTTCCCTTCCCTTC CCTT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134669235	T T	TCCTTCCC others(23): Show TCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0076 a0002c0013t0003g0076	1	272	0.0037	30	c.110 others(49): Show c.110-21648_110-21619dupTCCCTTCCCTTCCCTTCCCTTCCCTT CCCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134705457	G G	GCTGTCCC others(23): Show GCTGTCCCTCACAGAGCCACGTACGGAGGAA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0005 a0004c0029t0005	a0004c0029t0005g0100 a0004c0029t0005g0100	1	272	0.0037	30	c.654 others(47): Show c.654+4125_654+4154dupCTGTCCCTCACAGAGCCACGTACGGAGG AA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134712040	T T	TTCCCCCC others(23): Show TTCCCCCCTTCTTCCTGCCCCCTTCTTCCTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18906.hp1 HG02970.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0064 a0001c0003 a0001c0064	a0001c0003t0004 a0001c0064t0019 a0001c0003t0004 a0001c0064t0019	a0001c0003t0004g0038 a0001c0064t0019g0010 a0001c0003t0004g0038 a0001c0064t0019g0010	2	272	0.0074	30	c.654 others(49): Show c.654+10707_654+10708insTCCCCCCTTCTTCCTGCCCCCTTCTT CCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65			chr9	TogoVar
COL5A1_chr9_134636803_134849843	134712166	T T	TCTTCTTC others(23): Show TCTTCTTCCTTTCCCCCCTCCTTCCTGCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(165): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(39): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0019 a0001c0022 a0001c0023 a0001c0027 a0001c0028 a0001c0031 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0049 a0001c0051 a0001c0052 a0001c0056 a0001c0058 a0001c0060 a0001c0061 a0002c0013 a0002c0017 a0003c0020 a0003c0021 a0003c0038 a0003c0059 a0005c0062 a0005c0063 a0006c0040 a0007c0066 a0008c0030 a0009c0054 a0012c0043 a0013c0055	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(97): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0024 a0001c0001t0031 a0001c0001t0037 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0013 a0001c0002t0016 a0001c0002t0042 a0001c0002t0055 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0008 a0001c0003t0015 a0001c0003t0016 a0001c0003t0021 a0001c0003t0028 a0001c0003t0032 a0001c0003t0036 a0001c0003t0044 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0018 a0001c0004t0030 a0001c0004t0033 a0001c0005t0003 a0001c0005t0006 a0001c0005t0022 a0001c0005t0045 a0001c0005t0050 a0001c0007t0004 a0001c0007t0015 a0001c0007t0023 a0001c0008t0001 a0001c0008t0002 a0001c0008t0011 a0001c0008t0034 a0001c0009t0001 a0001c0010t0001 a0001c0010t0003 a0001c0010t0026 a0001c0011t0001 a0001c0011t0007 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0019t0001 a0001c0022t0001 a0001c0022t0002 a0001c0023t0002 a0001c0027t0001 a0001c0027t0002 a0001c0028t0004 a0001c0028t0038 a0001c0031t0006 a0001c0044t0057 a0001c0045t0004 a0001c0046t0001 a0001c0047t0003 a0001c0049t0003 a0001c0051t0007 a0001c0052t0020 a0001c0056t0001 a0001c0058t0002 a0001c0060t0004 a0001c0061t0013 a0002c0013t0003 a0002c0013t0021 a0002c0017t0003 a0003c0020t0001 a0003c0021t0001 a0003c0038t0001 a0003c0059t0040 a0005c0062t0011 a0005c0063t0002 a0006c0040t0009 a0007c0066t0001 a0008c0030t0001 a0009c0054t0002 a0012c0043t0043 a0013c0055t0007	a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0041 others(165): Show a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0147 a0001c0001t0001g0212 a0001c0001t0002g0023 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0002g0245 a0001c0001t0003g0146 a0001c0001t0004g0102 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0055 a0001c0001t0005g0155 a0001c0001t0005g0249 a0001c0001t0006g0110 a0001c0001t0007g0215 a0001c0001t0007g0248 a0001c0001t0008g0260 a0001c0001t0009g0109 a0001c0001t0009g0233 a0001c0001t0010g0098 a0001c0001t0012g0242 a0001c0001t0020g0194 a0001c0001t0024g0216 a0001c0001t0024g0217 a0001c0001t0031g0075 a0001c0001t0037g0053 a0001c0001t0059g0093 a0001c0002t0001g0018 a0001c0002t0001g0035 a0001c0002t0001g0050 a0001c0002t0001g0058 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0144 a0001c0002t0001g0148 a0001c0002t0001g0177 a0001c0002t0001g0209 a0001c0002t0001g0221 a0001c0002t0001g0236 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0002g0030 a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0002t0002g0096 a0001c0002t0002g0124 a0001c0002t0002g0126 a0001c0002t0002g0160 a0001c0002t0002g0171 a0001c0002t0003g0083 a0001c0002t0003g0154 a0001c0002t0004g0150 a0001c0002t0005g0059 a0001c0002t0005g0060 a0001c0002t0005g0065 a0001c0002t0005g0117 a0001c0002t0005g0211 a0001c0002t0006g0250 a0001c0002t0013g0140 a0001c0002t0013g0168 a0001c0002t0016g0237 a0001c0002t0042g0185 a0001c0002t0055g0152 a0001c0003t0001g0219 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0004g0262 a0001c0003t0004g0266 a0001c0003t0007g0003 a0001c0003t0008g0187 a0001c0003t0015g0188 a0001c0003t0016g0099 a0001c0003t0021g0169 a0001c0003t0028g0135 a0001c0003t0032g0004 a0001c0003t0036g0051 a0001c0003t0044g0186 a0001c0004t0001g0013 a0001c0004t0001g0170 a0001c0004t0001g0204 a0001c0004t0001g0225 a0001c0004t0002g0046 a0001c0004t0002g0052 a0001c0004t0002g0132 a0001c0004t0002g0172 a0001c0004t0003g0064 a0001c0004t0003g0145 a0001c0004t0004g0089 a0001c0004t0004g0224 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0004t0030g0253 a0001c0004t0033g0131 a0001c0005t0003g0265 a0001c0005t0006g0040 a0001c0005t0022g0085 a0001c0005t0045g0267 a0001c0005t0050g0271 a0001c0007t0004g0028 a0001c0007t0015g0200 a0001c0007t0023g0232 a0001c0008t0001g0087 a0001c0008t0001g0114 a0001c0008t0001g0149 a0001c0008t0002g0092 a0001c0008t0011g0091 a0001c0008t0034g0151 a0001c0009t0001g0106 a0001c0009t0001g0198 a0001c0010t0001g0005 a0001c0010t0001g0006 a0001c0010t0003g0068 a0001c0010t0026g0049 a0001c0011t0001g0191 a0001c0011t0007g0027 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0086 a0001c0019t0001g0214 a0001c0022t0001g0181 a0001c0022t0002g0159 a0001c0023t0002g0113 a0001c0027t0001g0130 a0001c0027t0002g0090 a0001c0028t0004g0213 a0001c0028t0038g0138 a0001c0031t0006g0048 a0001c0044t0057g0042 a0001c0045t0004g0104 a0001c0046t0001g0239 a0001c0047t0003g0032 a0001c0049t0003g0183 a0001c0051t0007g0202 a0001c0052t0020g0199 a0001c0056t0001g0084 a0001c0058t0002g0127 a0001c0060t0004g0240 a0001c0061t0013g0178 a0002c0013t0003g0061 a0002c0013t0003g0076 a0002c0013t0021g0071 a0002c0017t0003g0118 a0002c0017t0003g0163 a0002c0017t0003g0223 a0003c0020t0001g0120 a0003c0020t0001g0121 a0003c0021t0001g0157 a0003c0021t0001g0166 a0003c0038t0001g0136 a0003c0059t0040g0192 a0005c0062t0011g0026 a0005c0063t0002g0072 a0006c0040t0009g0189 a0007c0066t0001g0235 a0008c0030t0001g0137 a0009c0054t0002g0141 a0012c0043t0043g0037 a0013c0055t0007g0257	168	272	0.6177	30	c.654 others(49): Show c.654+10871_654+10900dupCTTTCCCCCCTCCTTCCTGCCCCCTT CTTC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134751123	G G	GCCCCGAG others(23): Show GCCCCGAGAGCATGTCACTGTCCAGTAGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(46): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01255.hp1 HG01952.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02273.hp2 HG02559.hp2 HG02723.hp1 HG02965.hp2 HG02970.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03927.hp1 NA18612.hp1 NA18906.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18983.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19057.hp1 NA19068.hp1 NA19070.hp2 NA19080.hp2 NA19087.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0011 a0001c0014 a0001c0023 a0001c0025 a0001c0050 a0002c0013 a0002c0042 a0005c0063 a0006c0040	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0002t0042 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0004t0011 a0001c0005t0022 a0001c0008t0002 a0001c0010t0026 a0001c0011t0001 a0001c0014t0002 a0001c0023t0001 a0001c0023t0002 a0001c0025t0008 a0001c0025t0015 a0001c0050t0004 a0002c0013t0003 a0002c0013t0021 a0002c0042t0002 a0005c0063t0002 a0006c0040t0009	a0001c0001t0002g0023 a0001c0001t0002g0069 a0001c0001t0002g0073 others(46): Show a0001c0001t0002g0023 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0116 a0001c0001t0002g0122 a0001c0001t0002g0139 a0001c0001t0002g0165 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0003g0133 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0155 a0001c0001t0005g0249 a0001c0001t0011g0229 a0001c0002t0042g0185 a0001c0003t0001g0153 a0001c0003t0001g0205 a0001c0003t0001g0222 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0002g0142 a0001c0003t0002g0246 a0001c0003t0003g0201 a0001c0003t0004g0262 a0001c0003t0004g0266 a0001c0003t0005g0070 a0001c0003t0008g0078 a0001c0003t0008g0187 a0001c0004t0011g0080 a0001c0005t0022g0085 a0001c0008t0002g0092 a0001c0010t0026g0049 a0001c0011t0001g0191 a0001c0011t0001g0206 a0001c0014t0002g0066 a0001c0014t0002g0067 a0001c0014t0002g0161 a0001c0023t0001g0014 a0001c0023t0002g0113 a0001c0025t0008g0203 a0001c0025t0015g0007 a0001c0050t0004g0034 a0002c0013t0003g0076 a0002c0013t0021g0071 a0002c0042t0002g0234 a0005c0063t0002g0072 a0006c0040t0009g0189	49	272	0.1802	30	c.166 others(47): Show c.1662+251_1662+252insATGTCACTGTCCAGTAGGGACCCCGAGA GC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	13/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02258.hp1 HG02818.hp1 others(2): Show HG01517.hp2 HG02258.hp1 HG02818.hp1 NA18977.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0028 a0001c0001 a0001c0007 a0001c0028	a0001c0001t0001 a0001c0007t0005 a0001c0028t0012 a0001c0001t0001 a0001c0007t0005 a0001c0028t0012	a0001c0001t0001g0070 a0001c0001t0001g0107 a0001c0007t0005g0006 others(2): Show a0001c0001t0001g0070 a0001c0001t0001g0107 a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0028t0012g0151	5	248	0.0202	30	c.457 others(47): Show c.457-2198_457-2169dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189157133	T T	TATAGATA others(23): Show TATAGATATATATAGATATATCGATATATCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG01106.hp2 others(19): Show HG00099.hp1 HG00597.hp1 HG01106.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG02135.hp2 HG03654.hp1 HG03710.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18960.hp1 NA18965.hp2 NA18969.hp2 NA18979.hp1 NA18983.hp1 NA19057.hp1 NA19084.hp2 NA19091.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0015 a0001 a0006 a0015	a0001c0001 a0001c0002 a0006c0009 others(1): Show a0001c0001 a0001c0002 a0006c0009 a0015c0022	a0001c0001t0001 a0001c0002t0002 a0001c0002t0020 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0020 a0006c0009t0001 a0015c0022t0002	a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0030 others(19): Show a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0163 a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0033 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0020g0038 a0006c0009t0001g0019 a0006c0009t0001g0027 a0015c0022t0002g0035	22	248	0.0887	30	c.97+ others(47): Show c.97+22374_97+22375insCGATATATCGATATATCTATATATATCT AT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	1/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0034 a0034	a0034c0078 a0034c0078	a0034c0078t0001 a0034c0078t0001	a0034c0078t0001g0389 a0034c0078t0001g0389	1	412	0.0024	30	c.214 others(47): Show c.2145+268_2145+269insCTTTCTCTCTCTCTTTTTTTTTTTTTTT TT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45978248	C C	CGTGAGAG others(23): Show CGTGAGAGGAGGGAGGGGGAGAGGAGTGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(89): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18945.hp1 NA18945.hp2 NA18983.hp1 NA18983.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19043.hp1 NA19043.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020	a0001c0001 a0001c0003 a0001c0010 others(26): Show a0001c0001 a0001c0003 a0001c0010 a0001c0012 a0001c0017 a0001c0021 a0001c0022 a0001c0024 a0001c0035 a0002c0002 a0002c0008 a0003c0004 a0003c0028 a0004c0005 a0004c0030 a0006c0011 a0007c0036 a0008c0015 a0009c0014 a0010c0016 a0011c0019 a0012c0033 a0013c0020 a0014c0025 a0015c0027 a0016c0026 a0017c0029 a0018c0031 a0020c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0015 a0001c0010t0005 a0001c0012t0005 a0001c0017t0003 a0001c0021t0002 a0001c0022t0007 a0001c0024t0003 a0001c0035t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0008t0001 a0003c0004t0001 a0003c0004t0002 a0003c0028t0001 a0004c0005t0001 a0004c0030t0001 a0006c0011t0002 a0007c0036t0005 a0008c0015t0002 a0009c0014t0002 a0010c0016t0014 a0011c0019t0003 a0012c0033t0002 a0013c0020t0002 a0014c0025t0001 a0015c0027t0005 a0016c0026t0002 a0017c0029t0003 a0018c0031t0013 a0020c0013t0004	a0001c0001t0001g0065 a0001c0001t0002g0004 a0001c0001t0002g0007 others(89): Show a0001c0001t0001g0065 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0035 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0121 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0001t0016g0100 a0001c0003t0002g0017 a0001c0003t0003g0015 a0001c0003t0003g0019 a0001c0003t0003g0026 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0036 a0001c0003t0006g0024 a0001c0003t0006g0031 a0001c0003t0015g0105 a0001c0010t0005g0072 a0001c0010t0005g0075 a0001c0012t0005g0073 a0001c0012t0005g0074 a0001c0017t0003g0016 a0001c0021t0002g0093 a0001c0022t0007g0046 a0001c0024t0003g0030 a0001c0035t0002g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0078 a0002c0002t0001g0119 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0025 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0002t0008g0117 a0002c0002t0008g0118 a0002c0002t0009g0038 a0002c0002t0009g0084 a0002c0002t0009g0122 a0002c0002t0010g0039 a0002c0002t0010g0123 a0002c0008t0001g0077 a0003c0004t0001g0061 a0003c0004t0002g0091 a0003c0004t0002g0099 a0003c0028t0001g0053 a0004c0005t0001g0041 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0047 a0004c0005t0001g0058 a0004c0030t0001g0085 a0006c0011t0002g0110 a0007c0036t0005g0083 a0008c0015t0002g0089 a0009c0014t0002g0087 a0010c0016t0014g0090 a0011c0019t0003g0114 a0012c0033t0002g0080 a0013c0020t0002g0002 a0014c0025t0001g0042 a0015c0027t0005g0076 a0016c0026t0002g0116 a0017c0029t0003g0022 a0018c0031t0013g0029 a0020c0013t0004g0018	92	128	0.7188	30	c.-36 others(41): Show c.-3603_-3602insGTGAGAGGAGGGAGGGGGAGAGGAGTGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3521		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45978261	A A	AGGGGGAG others(23): Show AGGGGGAGAGAGTGAGGGTGAGAGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0124 a0001c0003t0003g0124	1	128	0.0078	30	c.-35 others(41): Show c.-3590_-3589insGGGGGAGAGAGTGAGGGTGAGAGGAGGGAG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3508		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45978267	A A	AGGAGTGA others(23): Show AGGAGTGAGGGTGAGAGGAGGGAGGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0125 a0001c0001t0011g0125	1	128	0.0078	30	c.-35 others(41): Show c.-3584_-3583insGGAGTGAGGGTGAGAGGAGGGAGGGGGAAG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3502		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981603	G G	GCCCCCTC others(23): Show GCCCCCTCCCCTCTCCTCCCGCCCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0001 a0004c0030t0001	a0004c0030t0001g0085 a0004c0030t0001g0085	1	128	0.0078	30	c.-24 others(39): Show c.-248_-247insCCCCCTCCCCTCTCCTCCCGCCCCTCCCCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		166		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981603	G G	GCCCCTCC others(23): Show GCCCCTCCCCATCTCCTCCCGCCCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0097 a0006c0011t0002g0097	1	128	0.0078	30	c.-24 others(39): Show c.-248_-247insCCCCTCCCCATCTCCTCCCGCCCCTCCCCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		166		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981618	T T	TCCCGCCC others(23): Show TCCCGCCCCTCCCCCTCCCCTCCCCTCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	128	0.0078	30	c.-23 others(39): Show c.-233_-232insCCCGCCCCTCCCCCTCCCCTCCCCTCCCGC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		151		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981618	T T	TCCCGCCC others(23): Show TCCCGCCCCTCCCCTCCCCTCCCCTCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	128	0.0078	30	c.-23 others(39): Show c.-233_-232insCCCGCCCCTCCCCTCCCCTCCCCTCCCCGC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		151		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981618	T T	TCCCGCCC others(23): Show TCCCGCCCCTCCCCTCCCCTCCCCTCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03927.hp2 NA18612.hp2 HG02559.hp1 HG03927.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0002 a0001c0001t0003 a0001c0022t0007 a0001c0001t0002 a0001c0001t0003 a0001c0022t0007	a0001c0001t0002g0103 a0001c0001t0003g0006 a0001c0022t0007g0046 a0001c0001t0002g0103 a0001c0001t0003g0006 a0001c0022t0007g0046	3	128	0.0234	30	c.-23 others(39): Show c.-233_-232insCCCGCCCCTCCCCTCCCCTCCCCTCCCGCC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		151		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981622	G G	GCCCCTCC others(23): Show GCCCCTCCCCTCCCCTCCCCTCCCGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	128	0.0078	30	c.-22 others(39): Show c.-229_-228insCCCCTCCCCTCCCCTCCCCTCCCGCCCCGC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		147		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981632	T T	TCCCCTCC others(23): Show TCCCCTCCCCTCCCGCCCCGCCCCTCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	128	0.0078	30	c.-21 others(39): Show c.-219_-218insCCCCTCCCCTCCCGCCCCGCCCCTCCCCTC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		137		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981656	T T	TCCCGCCC others(23): Show TCCCGCCCCCGCCCCTCCCCTCCCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0110 a0006c0011t0002g0110	1	128	0.0078	30	c.-19 others(39): Show c.-195_-194insCCCGCCCCCGCCCCTCCCCTCCCCCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		113		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134395	T T	TAGGGTCA others(23): Show TAGGGTCAGGGTCAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18983.hp2 NA19055.hp1 NA18941.hp1 NA18983.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0184 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0184	3	372	0.0081	30	c.49 others(41): Show c.4904_*4905insAGGGTCAGGGTCAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4595		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134395	T T	TAGGGTCA others(23): Show TAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 NA18906.hp1 HG02622.hp2 NA18906.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0005 a0002c0008t0005	a0002c0008t0005g0060 a0002c0008t0005g0093 a0002c0008t0005g0060 a0002c0008t0005g0093	2	372	0.0054	30	c.49 others(41): Show c.4904_*4905insAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4595		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134395	T T	TAGGGTCA others(23): Show TAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00738.hp1 others(1): Show HG00140.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0020 a0001c0002t0009g0256 a0001c0002t0009g0265 a0001c0002t0009g0020 a0001c0002t0009g0256 a0001c0002t0009g0265	4	372	0.0108	30	c.49 others(41): Show c.4904_*4905insAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4595		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134443	T T	TAGGGTCA others(23): Show TAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02970.hp1 HG02055.hp2 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0222 a0002c0003t0008g0224 a0002c0003t0008g0222 a0002c0003t0008g0224	2	372	0.0054	30	c.49 others(41): Show c.4952_*4953insAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4643		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134461	C C	CAGGGTCA others(23): Show CAGGGTCAGGGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0235 a0003c0007t0003g0235	1	372	0.0027	30	c.49 others(41): Show c.4970_*4971insAGGGTCAGGGTCAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4661		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134471	G G	GTCAGGGT others(23): Show GTCAGGGTCAGGGTCAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0303 a0001c0006t0008g0303	1	372	0.0027	30	c.49 others(41): Show c.4980_*4981insTCAGGGTCAGGGTCAGGGTGAGGGTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4671		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134491	C C	CAGGGTGA others(23): Show CAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0207 a0003c0004t0004g0207	1	372	0.0027	30	c.50 others(41): Show c.5000_*5001insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4691		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134551	G G	GAGGGTGA others(23): Show GAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0080 a0002c0003t0003g0080	1	372	0.0027	30	c.50 others(41): Show c.5060_*5061insAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4751		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134587	T T	TAGGGTGA others(23): Show TAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0006 a0001c0026t0006	a0001c0026t0006g0049 a0001c0026t0006g0049	1	372	0.0027	30	c.50 others(41): Show c.5096_*5097insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4787		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134641	G G	GAGGGTCA others(23): Show GAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0222 a0002c0003t0008g0222	1	372	0.0027	30	c.51 others(41): Show c.5150_*5151insAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4841		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134675	G G	GTGAGGGT others(23): Show GTGAGGGTGAGGGTGAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	372	0.0027	30	c.51 others(41): Show c.5184_*5185insTGAGGGTGAGGGTGAGGGTGAGGGTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4875		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134677	C C	CAGGTTTA others(23): Show CAGGTTTAGGGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 NA18999.hp1 HG00639.hp1 NA18999.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0014 a0003c0004t0004 a0003c0004t0014	a0003c0004t0004g0212 a0003c0004t0014g0214 a0003c0004t0004g0212 a0003c0004t0014g0214	2	372	0.0054	30	c.51 others(41): Show c.5186_*5187insAGGTTTAGGGTCAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4877		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134395	T T	TAGGGTCA others(23): Show TAGGGTCAGGGTCAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18983.hp2 NA19055.hp1 NA18941.hp1 NA18983.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0181 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0181	3	364	0.0082	30	c.18 others(41): Show c.1843_*1844insAGGGTCAGGGTCAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1548		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134395	T T	TAGGGTCA others(23): Show TAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 NA18906.hp1 HG02622.hp2 NA18906.hp1	a0002 a0002	a0002c0012 a0002c0029 a0002c0012 a0002c0029	a0002c0012t0007 a0002c0029t0001 a0002c0012t0007 a0002c0029t0001	a0002c0012t0007g0095 a0002c0029t0001g0062 a0002c0012t0007g0095 a0002c0029t0001g0062	2	364	0.0055	30	c.18 others(41): Show c.1843_*1844insAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1548		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134395	T T	TAGGGTCA others(23): Show TAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00738.hp1 others(1): Show HG00140.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0262 a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0262	4	364	0.0110	30	c.18 others(41): Show c.1843_*1844insAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1548		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134443	T T	TAGGGTCA others(23): Show TAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02970.hp1 HG02055.hp2 HG02970.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0218 a0002c0031t0001g0220 a0002c0031t0001g0218 a0002c0031t0001g0220	2	364	0.0055	30	c.18 others(41): Show c.1891_*1892insAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1596		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134461	C C	CAGGGTCA others(23): Show CAGGGTCAGGGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0231 a0003c0016t0001g0231	1	364	0.0028	30	c.19 others(41): Show c.1909_*1910insAGGGTCAGGGTCAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1614		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134471	G G	GTCAGGGT others(23): Show GTCAGGGTCAGGGTCAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0302 a0001c0007t0001g0302	1	364	0.0028	30	c.19 others(41): Show c.1919_*1920insTCAGGGTCAGGGTCAGGGTGAGGGTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1624		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134491	C C	CAGGGTGA others(23): Show CAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0203 a0004c0005t0004g0203	1	364	0.0028	30	c.19 others(41): Show c.1939_*1940insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1644		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134551	G G	GAGGGTGA others(23): Show GAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0082 a0002c0003t0001g0082	1	364	0.0028	30	c.19 others(41): Show c.1999_*2000insAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1704		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134587	T T	TAGGGTGA others(23): Show TAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0051 a0001c0045t0001g0051	1	364	0.0028	30	c.20 others(41): Show c.2035_*2036insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1740		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134641	G G	GAGGGTCA others(23): Show GAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0218 a0002c0031t0001g0218	1	364	0.0028	30	c.20 others(41): Show c.2089_*2090insAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1794		chr21	TogoVar

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Search Results (Total: 10000 hits)