Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL15A1_chr9_98938907_99075787	99066599	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0025 a0025	a0025c0030 a0025c0030	a0025c0030t0005 a0025c0030t0005	a0025c0030t0005g0128 a0025c0030t0005g0128	1	104	0.0096	13	c.365 others(30): Show c.3652-270_3652-258dupTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99066608	T T	TGTTTGTT others(6): Show TGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp1 HG03225.hp1 others(1): Show HG02717.hp1 HG02809.hp1 HG03225.hp1 NA18906.hp1	a0009 a0028 a0044 a0009 a0028 a0044	a0009c0012 a0028c0028 a0044c0045 a0009c0012 a0028c0028 a0044c0045	a0009c0012t0002 a0028c0028t0002 a0044c0045t0003 a0009c0012t0002 a0028c0028t0002 a0044c0045t0003	a0009c0012t0002g0220 a0009c0012t0002g0221 a0028c0028t0002g0088 others(1): Show a0009c0012t0002g0220 a0009c0012t0002g0221 a0028c0028t0002g0088 a0044c0045t0003g0212	4	308	0.0130	13	c.365 others(30): Show c.3652-274_3652-273insGTTTGTTTGTTTG	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41			chr9	TogoVar
COL16A1_chr1_31647263_31709017	31707385	T T	TTTTCTTT others(6): Show TTTTCTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02602.hp1 HG02647.hp2 others(10): Show HG02572.hp1 HG02602.hp1 HG02647.hp2 HG02717.hp1 HG03041.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 NA19240.hp2	a0001 a0002 a0026 a0001 a0002 a0026	a0001c0006 a0002c0002 a0002c0004 others(1): Show a0001c0006 a0002c0002 a0002c0004 a0026c0029	a0001c0006t0006 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0006t0006 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0004t0002 a0026c0029t0001	a0001c0006t0006g0133 a0002c0002t0001g0174 a0002c0002t0002g0005 others(8): Show a0001c0006t0006g0133 a0002c0002t0001g0174 a0002c0002t0002g0005 a0002c0002t0002g0045 a0002c0002t0002g0072 a0002c0002t0002g0182 a0002c0004t0001g0012 a0002c0004t0002g0014 a0002c0004t0002g0044 a0002c0004t0002g0177 a0026c0029t0001g0063	13	211	0.0616	13	c.-35 others(24): Show c.-3584_-3583insGAAAGAAAAGAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3369		chr1	TogoVar
COL17A1_chr10_104026286_104090880	104089468	G G	GTCCGATG others(6): Show GTCCGATGGCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0114 a0003c0003t0002g0114	1	334	0.0030	13	c.-37 others(24): Show c.-3758_-3757insGGAAGCCATCGGA	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding		3589		chr10	TogoVar
COL18A1_chr21_45400165_45518720	45411759	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	209	0.0048	13	c.106 others(30): Show c.106+6292_106+6293insGGGGGGGGGGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL1A2_chr7_94389895_94436227	94423569	C C	CTTTTTGT others(6): Show CTTTTTGTTTTTGT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0073 a0001c0009t0001g0073	1	434	0.0023	13	c.256 others(30): Show c.2565+469_2565+481dupTGTTTTTGTTTTT	COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	40/51		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL22A1_chr8_138583235_138919041	138629777	A A	AATGCCCT others(6): Show AATGCCCTTTGCAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00597.hp1 others(95): Show HG00280.hp1 HG00280.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01255.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18944.hp1 NA18944.hp2 NA18985.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19240.hp2 NA20752.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0008 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0006 others(33): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0016 a0001c0018 a0001c0024 a0001c0027 a0001c0028 a0001c0045 a0001c0046 a0001c0053 a0001c0056 a0002c0003 a0002c0007 a0002c0011 a0002c0022 a0002c0023 a0002c0052 a0002c0059 a0002c0060 a0003c0013 a0003c0020 a0003c0031 a0003c0035 a0004c0032 a0004c0040 a0004c0041 a0005c0021 a0005c0061 a0008c0036 a0012c0047 a0013c0043 a0014c0049	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0006t0001 a0001c0006t0002 a0001c0008t0002 a0001c0010t0001 a0001c0010t0007 a0001c0012t0001 a0001c0012t0002 a0001c0012t0005 a0001c0012t0010 a0001c0016t0001 a0001c0018t0001 a0001c0018t0004 a0001c0024t0004 a0001c0024t0016 a0001c0027t0001 a0001c0027t0002 a0001c0028t0001 a0001c0028t0003 a0001c0045t0001 a0001c0046t0001 a0001c0053t0001 a0001c0056t0004 a0002c0003t0001 a0002c0003t0003 a0002c0003t0007 a0002c0007t0001 a0002c0007t0003 a0002c0007t0005 a0002c0011t0001 a0002c0011t0005 a0002c0011t0006 a0002c0011t0012 a0002c0022t0001 a0002c0022t0002 a0002c0023t0001 a0002c0052t0002 a0002c0059t0001 a0002c0060t0004 a0003c0013t0001 a0003c0013t0003 a0003c0020t0007 a0003c0031t0004 a0003c0035t0006 a0004c0032t0001 a0004c0040t0004 a0004c0041t0002 a0005c0021t0001 a0005c0061t0001 a0008c0036t0002 a0012c0047t0001 a0013c0043t0001 a0014c0049t0006	a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0081 others(95): Show a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0002g0020 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0005g0142 a0001c0001t0006g0108 a0001c0001t0006g0115 a0001c0002t0001g0017 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0125 a0001c0002t0002g0027 a0001c0002t0003g0009 a0001c0002t0005g0141 a0001c0002t0005g0147 a0001c0002t0005g0153 a0001c0002t0007g0156 a0001c0006t0001g0053 a0001c0006t0001g0064 a0001c0006t0001g0112 a0001c0006t0002g0065 a0001c0008t0002g0088 a0001c0010t0001g0029 a0001c0010t0001g0031 a0001c0010t0001g0109 a0001c0010t0007g0155 a0001c0012t0001g0038 a0001c0012t0002g0061 a0001c0012t0005g0143 a0001c0012t0010g0011 a0001c0016t0001g0087 a0001c0016t0001g0133 a0001c0018t0001g0056 a0001c0018t0001g0074 a0001c0018t0004g0085 a0001c0024t0004g0137 a0001c0024t0016g0158 a0001c0027t0001g0023 a0001c0027t0002g0021 a0001c0028t0001g0036 a0001c0028t0003g0005 a0001c0045t0001g0078 a0001c0046t0001g0093 a0001c0053t0001g0113 a0001c0056t0004g0040 a0002c0003t0001g0024 a0002c0003t0001g0067 a0002c0003t0001g0098 a0002c0003t0001g0111 a0002c0003t0003g0004 a0002c0003t0003g0012 a0002c0003t0007g0157 a0002c0007t0001g0082 a0002c0007t0001g0129 a0002c0007t0001g0138 a0002c0007t0003g0010 a0002c0007t0005g0144 a0002c0011t0001g0018 a0002c0011t0005g0146 a0002c0011t0006g0121 a0002c0011t0012g0139 a0002c0022t0001g0041 a0002c0022t0002g0026 a0002c0023t0001g0037 a0002c0023t0001g0110 a0002c0052t0002g0060 a0002c0059t0001g0051 a0002c0060t0004g0107 a0003c0013t0001g0118 a0003c0013t0003g0001 a0003c0013t0003g0006 a0003c0020t0007g0152 a0003c0031t0004g0032 a0003c0035t0006g0076 a0004c0032t0001g0128 a0004c0040t0004g0035 a0004c0041t0002g0043 a0005c0021t0001g0071 a0005c0021t0001g0080 a0005c0061t0001g0106 a0008c0036t0002g0090 a0012c0047t0001g0099 a0013c0043t0001g0054 a0014c0049t0006g0066	98	156	0.6282	13	c.366 others(30): Show c.3663+905_3663+917dupGTGCAAAGGGCAT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	50/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138629782	C C	CCTTTGCA others(6): Show CCTTTGCACATGCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02896.hp2 HG02965.hp2 others(1): Show HG02280.hp1 HG02896.hp2 HG02965.hp2 HG03139.hp2	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0001c0057 a0006c0038 others(1): Show a0001c0001 a0001c0057 a0006c0038 a0010c0042	a0001c0001t0001 a0001c0057t0009 a0006c0038t0004 others(1): Show a0001c0001t0001 a0001c0057t0009 a0006c0038t0004 a0010c0042t0013	a0001c0001t0001g0094 a0001c0057t0009g0049 a0006c0038t0004g0034 others(1): Show a0001c0001t0001g0094 a0001c0057t0009g0049 a0006c0038t0004g0034 a0010c0042t0013g0140	4	156	0.0256	13	c.366 others(30): Show c.3663+912_3663+913insAGCATGTGCAAAG	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	50/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138726498	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02451.hp1 others(5): Show HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02922.hp1 HG02970.hp2 HG03195.hp2 HG03225.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0002 a0001c0012 a0001c0016 others(4): Show a0001c0002 a0001c0012 a0001c0016 a0001c0018 a0002c0004 a0004c0040 a0006c0038	a0001c0002t0002 a0001c0012t0010 a0001c0016t0001 others(4): Show a0001c0002t0002 a0001c0012t0010 a0001c0016t0001 a0001c0018t0004 a0002c0004t0008 a0004c0040t0004 a0006c0038t0004	a0001c0002t0002g0027 a0001c0012t0010g0011 a0001c0016t0001g0087 others(5): Show a0001c0002t0002g0027 a0001c0012t0010g0011 a0001c0016t0001g0087 a0001c0018t0004g0085 a0002c0004t0008g0022 a0002c0004t0008g0100 a0004c0040t0004g0035 a0006c0038t0004g0034	8	72	0.1111	13	c.214 others(32): Show c.2140-1071_2140-1059dupTTTTTTTTTTTTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	23/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138809528	C C	CTTTTTCT others(6): Show CTTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02723.hp1 others(5): Show HG02055.hp1 HG02055.hp2 HG02723.hp1 HG02965.hp1 HG03225.hp2 HG03579.hp2 HG03688.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0001c0017 a0001c0026 others(3): Show a0001c0012 a0001c0017 a0001c0026 a0001c0028 a0002c0007 a0002c0009	a0001c0012t0001 a0001c0012t0002 a0001c0017t0007 others(5): Show a0001c0012t0001 a0001c0012t0002 a0001c0017t0007 a0001c0026t0001 a0001c0028t0003 a0002c0007t0001 a0002c0007t0008 a0002c0009t0001	a0001c0012t0001g0038 a0001c0012t0002g0061 a0001c0017t0007g0149 others(5): Show a0001c0012t0001g0038 a0001c0012t0002g0061 a0001c0017t0007g0149 a0001c0026t0001g0039 a0001c0028t0003g0005 a0002c0007t0001g0129 a0002c0007t0008g0028 a0002c0009t0001g0072	8	58	0.1379	13	c.145 others(32): Show c.1450-1717_1450-1716insAAAAAAAGAAAAA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	9/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138902737	T T	TAATATAT others(6): Show TAATATATATACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp1 HG02451.hp1 HG02895.hp1	a0002 a0004 a0002 a0004	a0002c0023 a0004c0040 a0002c0023 a0004c0040	a0002c0023t0001 a0004c0040t0004 a0002c0023t0001 a0004c0040t0004	a0002c0023t0001g0037 a0004c0040t0004g0035 a0002c0023t0001g0037 a0004c0040t0004g0035	2	85	0.0235	13	c.-73 others(32): Show c.-73+10881_-73+10882insGTGTATATATATT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	1/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178403108	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01168.hp2 HG02622.hp2 others(4): Show HG00423.hp1 HG01168.hp2 HG02622.hp2 HG02647.hp1 HG04115.hp2 NA18959.hp1 NA18973.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0005t0001 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0005t0001 a0001c0005t0005 a0002c0002t0001 a0002c0003t0001	a0001c0001t0002g0049 a0001c0001t0002g0083 a0001c0001t0004g0037 others(4): Show a0001c0001t0002g0049 a0001c0001t0002g0083 a0001c0001t0004g0037 a0001c0005t0001g0007 a0001c0005t0005g0060 a0002c0002t0001g0198 a0002c0003t0001g0152	7	175	0.0400	13	c.362 others(32): Show c.362-96202_362-96190dupTTTTTTTTTTTTT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178555108	A A	AGTGTCTT others(6): Show AGTGTCTTCTCCAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG02970.hp2 others(2): Show HG01243.hp1 HG02145.hp1 HG02970.hp2 HG03486.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0014 a0002c0003t0003 others(1): Show a0001c0001t0003 a0001c0001t0014 a0002c0003t0003 a0002c0003t0005	a0001c0001t0003g0067 a0001c0001t0014g0224 a0002c0003t0003g0158 others(2): Show a0001c0001t0003g0067 a0001c0001t0014g0224 a0002c0003t0003g0158 a0002c0003t0003g0173 a0002c0003t0005g0066	5	236	0.0212	13	c.361 others(30): Show c.361+5561_361+5573dupGTGGAGAAGACAC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178562733	T T	TGGGGGGG others(6): Show TGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02970.hp1 NA18906.hp1 HG02071.hp1 HG02970.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0005 a0002c0002t0001 a0002c0003t0005 a0001c0001t0005 a0002c0002t0001 a0002c0003t0005	a0001c0001t0005g0216 a0002c0002t0001g0219 a0002c0003t0005g0066 a0001c0001t0005g0216 a0002c0002t0001g0219 a0002c0003t0005g0066	3	217	0.0138	13	c.295 others(30): Show c.295-1986_295-1985insCCCCCCCCCCCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178562736	T T	TGGGGGGG others(6): Show TGGGGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0007 a0001c0005t0001g0007	1	170	0.0059	13	c.295 others(30): Show c.295-1989_295-1988insCCCCTCCCCCCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178562736	T T	TGGGGGGG others(6): Show TGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03516.hp2 NA19240.hp1 HG02896.hp1 HG03516.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0002 a0003c0004t0003 a0001c0001t0003 a0003c0004t0002 a0003c0004t0003	a0001c0001t0003g0213 a0003c0004t0002g0167 a0003c0004t0003g0010 a0001c0001t0003g0213 a0003c0004t0002g0167 a0003c0004t0003g0010	3	172	0.0174	13	c.295 others(30): Show c.295-1989_295-1988insCCCCCCCCCCCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178572067	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02922.hp2 HG02886.hp2 HG02922.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0005 a0003c0004t0002 a0002c0002t0005 a0003c0004t0002	a0002c0002t0005g0160 a0003c0004t0002g0061 a0002c0002t0005g0160 a0003c0004t0002g0061	2	228	0.0088	13	c.295 others(32): Show c.295-11320_295-11319insTTTTTTTTTTTTT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178572072	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01361.hp2 HG01884.hp1 others(26): Show HG00280.hp2 HG01361.hp2 HG01884.hp1 HG01934.hp2 HG02071.hp1 HG02129.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG03139.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03831.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18951.hp1 NA18964.hp2 NA19002.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0003c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0003c0004t0003 a0003c0007t0001	a0001c0001t0002g0153 a0001c0001t0003g0006 a0001c0001t0003g0142 others(26): Show a0001c0001t0002g0153 a0001c0001t0003g0006 a0001c0001t0003g0142 a0001c0001t0003g0159 a0001c0001t0003g0166 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0004g0022 a0001c0001t0004g0218 a0001c0001t0005g0084 a0001c0001t0005g0133 a0001c0001t0005g0161 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0014g0224 a0002c0002t0001g0180 a0002c0002t0001g0219 a0002c0003t0001g0134 a0002c0003t0002g0140 a0002c0003t0002g0211 a0002c0003t0003g0157 a0002c0003t0003g0158 a0002c0003t0004g0221 a0002c0003t0005g0115 a0002c0003t0005g0131 a0003c0004t0003g0145 a0003c0007t0001g0154	29	146	0.1986	13	c.295 others(32): Show c.295-11325_295-11324insTTTTTTTTTTTTT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85885397	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01952.hp2 HG02630.hp1 others(8): Show HG01099.hp2 HG01952.hp2 HG02630.hp1 HG02970.hp2 HG03540.hp1 NA18944.hp2 NA18955.hp2 NA18978.hp2 NA18985.hp1 NA18990.hp2 NA20300.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0008 a0009 a0021	a0001c0001 a0002c0016 a0004c0002 others(4): Show a0001c0001 a0002c0016 a0004c0002 a0005c0004 a0008c0006 a0009c0008 a0021c0051	a0001c0001t0001 a0002c0016t0001 a0004c0002t0002 others(4): Show a0001c0001t0001 a0002c0016t0001 a0004c0002t0002 a0005c0004t0002 a0008c0006t0001 a0009c0008t0002 a0021c0051t0002	a0001c0001t0001g0043 a0002c0016t0001g0171 a0004c0002t0002g0209 others(8): Show a0001c0001t0001g0043 a0002c0016t0001g0171 a0004c0002t0002g0209 a0005c0004t0002g0120 a0008c0006t0001g0034 a0008c0006t0001g0049 a0008c0006t0001g0054 a0009c0008t0002g0102 a0009c0008t0002g0106 a0009c0008t0002g0109 a0021c0051t0002g0096	11	49	0.2245	13	c.297 others(32): Show c.2976+4162_2976+4163insAAAAATATATATA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	32/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85885397	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp2 HG03041.hp1 others(6): Show HG01255.hp1 HG02055.hp2 HG03041.hp1 NA18906.hp1 NA18970.hp1 NA18986.hp1 NA19011.hp1 NA19012.hp2 NA19057.hp1	a0004 a0007 a0023 others(2): Show a0004 a0007 a0023 a0024 a0045	a0004c0002 a0007c0014 a0023c0026 others(2): Show a0004c0002 a0007c0014 a0023c0026 a0024c0021 a0045c0046	a0004c0002t0001 a0004c0002t0002 a0004c0002t0004 others(4): Show a0004c0002t0001 a0004c0002t0002 a0004c0002t0004 a0007c0014t0003 a0023c0026t0001 a0024c0021t0001 a0045c0046t0006	a0004c0002t0001g0127 a0004c0002t0002g0214 a0004c0002t0004g0206 others(6): Show a0004c0002t0001g0127 a0004c0002t0002g0214 a0004c0002t0004g0206 a0007c0014t0003g0235 a0023c0026t0001g0037 a0023c0026t0001g0046 a0024c0021t0001g0021 a0024c0021t0001g0022 a0045c0046t0006g0007	9	47	0.1915	13	c.297 others(32): Show c.2976+4162_2976+4163insAAAAAAATATATA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	32/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85885397	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03130.hp1 HG01071.hp2 HG03130.hp1	a0001 a0007 a0001 a0007	a0001c0041 a0007c0014 a0001c0041 a0007c0014	a0001c0041t0004 a0007c0014t0001 a0001c0041t0004 a0007c0014t0001	a0001c0041t0004g0148 a0007c0014t0001g0221 a0001c0041t0004g0148 a0007c0014t0001g0221	2	40	0.0500	13	c.297 others(32): Show c.2976+4162_2976+4163insAAAAAAAAATATA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	32/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85906264	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0022 a0022	a0022c0033 a0022c0033	a0022c0033t0001 a0022c0033t0001	a0022c0033t0001g0197 a0022c0033t0001g0197	1	30	0.0333	13	c.277 others(30): Show c.2778+917_2778+929dupAAAAAAAAAAAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	28/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	86079600	T T	TCTATAGG others(6): Show TCTATAGGAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18960.hp2 NA18978.hp1 others(3): Show HG03239.hp2 NA18960.hp2 NA18978.hp1 NA18984.hp1 NA19011.hp1 NA19090.hp2	a0004 a0006 a0045 a0004 a0006 a0045	a0004c0002 a0006c0017 a0006c0047 others(1): Show a0004c0002 a0006c0017 a0006c0047 a0045c0046	a0004c0002t0002 a0006c0017t0005 a0006c0017t0006 others(2): Show a0004c0002t0002 a0006c0017t0005 a0006c0017t0006 a0006c0047t0005 a0045c0046t0006	a0004c0002t0002g0184 a0006c0017t0005g0011 a0006c0017t0005g0016 others(3): Show a0004c0002t0002g0184 a0006c0017t0005g0011 a0006c0017t0005g0016 a0006c0017t0006g0009 a0006c0047t0005g0010 a0045c0046t0006g0007	6	236	0.0254	13	c.170 others(32): Show c.1707+9573_1707+9574insTTTTTTCCTATAG	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	7/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	86097438	T T	TCTCCTCC others(6): Show TCTCCTCCTCCCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01109.hp1 others(2): Show HG00741.hp1 HG01106.hp2 HG01109.hp1 HG01496.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0016 a0003c0003t0001 a0003c0003t0016	a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0223 others(2): Show a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0226 a0003c0003t0016g0227	5	236	0.0212	13	c.160 others(32): Show c.1600-5131_1600-5119dupGGGGGAGGAGGAG	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	5/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	86097458	T T	TTCCTCCC others(6): Show TTCCTCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp1 HG00642.hp1 others(25): Show HG00423.hp2 HG00639.hp1 HG00642.hp1 HG01109.hp2 HG01993.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02165.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 NA18946.hp1 NA18970.hp2 NA18974.hp2 NA18985.hp2 NA19004.hp2 NA19007.hp1 NA19012.hp1 NA19056.hp1 NA19062.hp2 NA19064.hp1 NA19068.hp1 NA19082.hp1 NA19090.hp1	a0001 a0004 a0008 others(5): Show a0001 a0004 a0008 a0009 a0011 a0012 a0026 a0038	a0001c0001 a0001c0005 a0001c0066 others(9): Show a0001c0001 a0001c0005 a0001c0066 a0004c0002 a0004c0071 a0008c0006 a0009c0008 a0011c0012 a0012c0015 a0012c0034 a0026c0069 a0038c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0005t0001 a0001c0066t0001 a0004c0002t0001 a0004c0071t0001 a0008c0006t0001 a0008c0006t0002 a0009c0008t0002 a0009c0008t0014 a0011c0012t0002 a0012c0015t0001 a0012c0015t0002 a0012c0034t0003 a0026c0069t0004 a0038c0043t0004	a0001c0001t0001g0099 a0001c0001t0001g0114 a0001c0001t0001g0116 others(25): Show a0001c0001t0001g0099 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0002g0092 a0001c0001t0002g0113 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0010g0132 a0001c0001t0010g0142 a0001c0005t0001g0139 a0001c0066t0001g0137 a0004c0002t0001g0153 a0004c0071t0001g0152 a0008c0006t0001g0048 a0008c0006t0002g0047 a0009c0008t0002g0105 a0009c0008t0014g0103 a0011c0012t0002g0032 a0011c0012t0002g0033 a0011c0012t0002g0135 a0012c0015t0001g0028 a0012c0015t0001g0030 a0012c0015t0002g0027 a0012c0034t0003g0026 a0026c0069t0004g0124 a0038c0043t0004g0104	28	235	0.1191	13	c.160 others(32): Show c.1600-5151_1600-5139dupGGAGGAGGGAGGA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	5/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	86097491	C C	CTCCTCCT others(6): Show CTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18995.hp2 NA19065.hp1 NA18971.hp2 NA18995.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0123	3	236	0.0127	13	c.160 others(32): Show c.1600-5172_1600-5171insAGGAGGAGGAGGA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	5/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	86108620	T T	TAAAGAAA others(6): Show TAAAGAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0004 a0017c0023t0004	a0017c0023t0004g0107 a0017c0023t0004g0107	1	11	0.0909	13	c.159 others(32): Show c.1599+3946_1599+3947insTTTTTTTTTCTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	5/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108807833	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03195.hp1 NA19030.hp2 HG02886.hp1 HG03195.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0119 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0119	3	70	0.0429	13	c.60 others(24): Show c.6093_*6094insAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding		891		chr4	TogoVar
COL25A1_chr4_108803725_109307658	108807839	T T	TATATATA others(6): Show TATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01258.hp2 HG02451.hp1 others(5): Show HG00140.hp2 HG01258.hp2 HG02451.hp1 HG02602.hp2 HG02896.hp1 HG02965.hp2 NA19062.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0017 a0001c0001t0019 others(4): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0019 a0001c0001t0028 a0001c0002t0003 a0001c0004t0002 a0001c0005t0002	a0001c0001t0002g0058 a0001c0001t0002g0108 a0001c0001t0017g0002 others(5): Show a0001c0001t0002g0058 a0001c0001t0002g0108 a0001c0001t0017g0002 a0001c0001t0019g0023 a0001c0001t0028g0084 a0001c0002t0003g0010 a0001c0004t0002g0083 a0001c0005t0002g0124	8	90	0.0889	13	c.60 others(24): Show c.6087_*6088insTATATATATATAT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding		885		chr4	TogoVar
COL25A1_chr4_108803725_109307658	108822043	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01258.hp1 HG01346.hp1 others(14): Show HG00639.hp1 HG01258.hp1 HG01346.hp1 HG01884.hp1 HG02109.hp1 HG02165.hp2 HG02293.hp2 HG02451.hp1 HG02622.hp1 HG02717.hp1 HG02809.hp1 HG02922.hp1 HG03195.hp2 HG03471.hp1 HG03710.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0004t0003 a0001c0005t0002	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0071 others(14): Show a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0071 a0001c0001t0002g0088 a0001c0001t0002g0101 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0126 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0014g0013 a0001c0004t0003g0021 a0001c0005t0002g0124	17	54	0.3148	13	c.184 others(32): Show c.1845+2118_1845+2130dupAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	35/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108835861	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	19	0.0526	13	c.165 others(32): Show c.1657-3441_1657-3429dupAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	31/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108886480	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0122 a0001c0005t0005g0122	1	118	0.0085	13	c.976 others(30): Show c.976-2259_976-2258insAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	18/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108913261	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01167.hp1 others(20): Show HG00741.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp2 HG02602.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp2 HG03209.hp1 HG03492.hp2 HG03710.hp2 NA18952.hp1 NA18998.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0028 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0002t0009	a0001c0001t0001g0037 a0001c0001t0001g0081 a0001c0001t0001g0115 others(20): Show a0001c0001t0001g0037 a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0002g0058 a0001c0001t0002g0075 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0002g0120 a0001c0001t0003g0003 a0001c0001t0003g0018 a0001c0001t0003g0033 a0001c0001t0019g0023 a0001c0001t0020g0035 a0001c0001t0027g0085 a0001c0001t0028g0084 a0001c0002t0001g0130 a0001c0002t0004g0011 a0001c0002t0004g0031 a0001c0002t0008g0061 a0001c0002t0009g0006 a0001c0002t0009g0029	23	84	0.2738	13	c.780 others(30): Show c.780+4898_780+4910dupAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	13/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109000743	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0040 a0001c0004t0001g0040	1	119	0.0084	13	c.438 others(30): Show c.438+9602_438+9614dupTTTTTTTTTTTTT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	6/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109006378	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03942.hp2 HG03492.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0121 a0001c0001t0002g0087 a0001c0001t0001g0121 a0001c0001t0002g0087	2	9	0.2222	13	c.438 others(30): Show c.438+3967_438+3979dupAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	6/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109083448	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	28	0.0357	13	c.368 others(32): Show c.368-33282_368-33270dupAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109093457	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02970.hp1 HG03139.hp2 HG02630.hp2 HG02970.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0069 a0001c0001t0006g0049 a0001c0002t0001g0125 a0001c0001t0001g0069 a0001c0001t0006g0049 a0001c0002t0001g0125	3	107	0.0280	13	c.368 others(32): Show c.368-43291_368-43279dupTTTTTTTTTTTTT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101439553	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02896.hp1 HG02965.hp2 others(1): Show HG02602.hp1 HG02896.hp1 HG02965.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0002c0007	a0001c0001t0005 a0001c0005t0005 a0002c0003t0001 others(1): Show a0001c0001t0005 a0001c0005t0005 a0002c0003t0001 a0002c0007t0004	a0001c0001t0005g0147 a0001c0005t0005g0105 a0002c0003t0001g0158 others(1): Show a0001c0001t0005g0147 a0001c0005t0005g0105 a0002c0003t0001g0158 a0002c0007t0004g0006	4	24	0.1667	13	c.282 others(30): Show c.282-8129_282-8117dupAAAAAAAAAAAAA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101446046	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01257.hp2 others(4): Show HG01074.hp2 HG01167.hp1 HG01257.hp2 HG02922.hp2 HG03704.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0013 others(1): Show a0001c0001 a0001c0008 a0001c0013 a0002c0004	a0001c0001t0005 a0001c0008t0007 a0001c0013t0010 others(1): Show a0001c0001t0005 a0001c0008t0007 a0001c0013t0010 a0002c0004t0001	a0001c0001t0005g0059 a0001c0001t0005g0080 a0001c0001t0005g0144 others(4): Show a0001c0001t0005g0059 a0001c0001t0005g0080 a0001c0001t0005g0144 a0001c0001t0005g0154 a0001c0008t0007g0078 a0001c0013t0010g0026 a0002c0004t0001g0165	7	43	0.1628	13	c.282 others(30): Show c.282-1626_282-1614dupAAAAAAAAAAAAA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101510027	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp2 HG02647.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0014 a0001c0005 a0001c0014	a0001c0005t0011 a0001c0014t0009 a0001c0005t0011 a0001c0014t0009	a0001c0005t0011g0161 a0001c0014t0009g0116 a0001c0005t0011g0161 a0001c0014t0009g0116	2	103	0.0194	13	c.386 others(32): Show c.386-23053_386-23041dupTTTTTTTTTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL27A1_chr9_114150537_114317511	114263901	T T	TTCTTCCC others(6): Show TTCTTCCCAGGTCC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0146 a0001c0017t0003g0146	1	306	0.0033	13	c.319 others(30): Show c.3196-452_3196-440dupCTTCCCAGGTCCT	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	28/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL28A1_chr7_7352875_7540873	7522806	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0039 a0004c0039	a0004c0039t0001 a0004c0039t0001	a0004c0039t0001g0071 a0004c0039t0001g0071	1	10	0.1000	13	c.703 others(28): Show c.703-858_703-846dupTTTTTTTTTTTTT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	4/34			chr7	TogoVar
COL4A1_chr13_110143963_110312157	110145379	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02083.hp1 HG02135.hp2 others(13): Show HG00408.hp2 HG02083.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp2 NA18612.hp1 NA18944.hp1 NA18954.hp2 NA18964.hp1 NA18971.hp2 NA18993.hp2 NA19005.hp2 NA19058.hp1 NA19081.hp2 NA19087.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0055 others(11): Show a0001c0001 a0001c0003 a0001c0055 a0001c0064 a0001c0066 a0002c0018 a0002c0039 a0003c0009 a0003c0105 a0003c0107 a0004c0005 a0004c0021 a0004c0022 a0004c0053	a0001c0001t0001 a0001c0003t0001 a0001c0055t0001 others(11): Show a0001c0001t0001 a0001c0003t0001 a0001c0055t0001 a0001c0064t0001 a0001c0066t0001 a0002c0018t0001 a0002c0039t0002 a0003c0009t0001 a0003c0105t0001 a0003c0107t0001 a0004c0005t0001 a0004c0021t0001 a0004c0022t0001 a0004c0053t0001	a0001c0001t0001g0097 a0001c0003t0001g0092 a0001c0055t0001g0066 others(13): Show a0001c0001t0001g0097 a0001c0003t0001g0092 a0001c0055t0001g0066 a0001c0064t0001g0026 a0001c0066t0001g0149 a0002c0018t0001g0232 a0002c0039t0002g0269 a0003c0009t0001g0189 a0003c0105t0001g0233 a0003c0107t0001g0242 a0004c0005t0001g0035 a0004c0005t0001g0047 a0004c0005t0001g0079 a0004c0021t0001g0065 a0004c0022t0001g0050 a0004c0053t0001g0057	16	95	0.1684	13	c.49 others(24): Show c.4983_*4984insTTTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding		3583		chr13	TogoVar
COL4A1_chr13_110143963_110312157	110222771	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG01515.hp1 others(5): Show HG00280.hp2 HG00544.hp1 HG01515.hp1 HG02165.hp2 NA18953.hp2 NA18972.hp1 NA19007.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0079 a0002c0018 a0002c0093 a0002c0112	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0079t0001 a0002c0018t0001 a0002c0093t0003 a0002c0112t0002	a0001c0001t0001g0153 a0001c0003t0001g0088 a0001c0006t0001g0027 others(5): Show a0001c0001t0001g0153 a0001c0003t0001g0088 a0001c0006t0001g0027 a0001c0006t0001g0161 a0001c0079t0001g0119 a0002c0018t0001g0232 a0002c0093t0003g0215 a0002c0112t0002g0271	8	84	0.0952	13	c.145 others(30): Show c.145-8757_145-8756insTTTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253239	A A	ATATGTAC others(6): Show ATATGTACGTATGT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02630.hp1 HG02630.hp2 others(6): Show HG02523.hp2 HG02630.hp1 HG02630.hp2 NA18941.hp2 NA18963.hp2 NA18968.hp2 NA18982.hp1 NA19007.hp1 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0002c0002 others(5): Show a0001c0001 a0001c0007 a0002c0002 a0002c0011 a0002c0018 a0003c0009 a0003c0049 a0004c0077	a0001c0001t0001 a0001c0007t0001 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0002 a0002c0011t0001 a0002c0018t0001 a0003c0009t0001 a0003c0049t0001 a0004c0077t0001	a0001c0001t0001g0039 a0001c0001t0001g0153 a0001c0007t0001g0072 others(6): Show a0001c0001t0001g0039 a0001c0001t0001g0153 a0001c0007t0001g0072 a0002c0002t0002g0302 a0002c0011t0001g0182 a0002c0018t0001g0195 a0003c0009t0001g0203 a0003c0049t0001g0241 a0004c0077t0001g0017	9	307	0.0293	13	c.85- others(30): Show c.85-10506_85-10505insACATACGTACATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253239	A A	ATATGTAT others(6): Show ATATGTATGTATGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG01168.hp2 others(13): Show HG00642.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01975.hp2 HG02056.hp2 HG02083.hp2 HG02148.hp1 HG03490.hp1 NA18906.hp1 NA18943.hp2 NA18948.hp2 NA18993.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0010 a0001c0013 a0001c0037 others(9): Show a0001c0010 a0001c0013 a0001c0037 a0001c0075 a0002c0002 a0002c0004 a0002c0044 a0002c0047 a0003c0038 a0004c0005 a0004c0017 a0004c0067	a0001c0010t0001 a0001c0013t0001 a0001c0037t0001 others(10): Show a0001c0010t0001 a0001c0013t0001 a0001c0037t0001 a0001c0075t0003 a0002c0002t0002 a0002c0004t0001 a0002c0004t0002 a0002c0044t0001 a0002c0047t0002 a0003c0038t0001 a0004c0005t0001 a0004c0017t0001 a0004c0067t0001	a0001c0010t0001g0054 a0001c0013t0001g0032 a0001c0013t0001g0120 others(13): Show a0001c0010t0001g0054 a0001c0013t0001g0032 a0001c0013t0001g0120 a0001c0037t0001g0164 a0001c0075t0003g0081 a0002c0002t0002g0286 a0002c0004t0001g0254 a0002c0004t0002g0285 a0002c0044t0001g0207 a0002c0047t0002g0335 a0002c0047t0002g0336 a0003c0038t0001g0194 a0004c0005t0001g0079 a0004c0005t0001g0162 a0004c0017t0001g0012 a0004c0067t0001g0009	16	314	0.0510	13	c.85- others(30): Show c.85-10506_85-10505insACATACATACATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253259	A A	ATATGTAC others(6): Show ATATGTACGTATGT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18941.hp2 NA18968.hp2 others(2): Show HG02523.hp2 NA18941.hp2 NA18968.hp2 NA18982.hp1 NA19007.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0049 others(1): Show a0001c0001 a0002c0002 a0003c0049 a0004c0077	a0001c0001t0001 a0002c0002t0002 a0003c0049t0001 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0049t0001 a0004c0077t0001	a0001c0001t0001g0039 a0001c0001t0001g0153 a0002c0002t0002g0302 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0153 a0002c0002t0002g0302 a0003c0049t0001g0241 a0004c0077t0001g0017	5	333	0.0150	13	c.85- others(30): Show c.85-10526_85-10525insACATACGTACATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253259	A A	ATATGTAT others(6): Show ATATGTATGTATGT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18982.hp2 NA19081.hp2 others(1): Show NA18978.hp2 NA18982.hp2 NA19081.hp2 NA19088.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0004 a0002c0106 a0003c0107 others(1): Show a0002c0004 a0002c0106 a0003c0107 a0004c0060	a0002c0004t0001 a0002c0106t0001 a0003c0107t0001 others(1): Show a0002c0004t0001 a0002c0106t0001 a0003c0107t0001 a0004c0060t0001	a0002c0004t0001g0248 a0002c0106t0001g0240 a0003c0107t0001g0242 others(1): Show a0002c0004t0001g0248 a0002c0106t0001g0240 a0003c0107t0001g0242 a0004c0060t0001g0018	4	332	0.0120	13	c.85- others(30): Show c.85-10526_85-10525insACATACATACATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253311	T T	TACATATA others(6): Show TACATATAATTAGG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18982.hp2 NA19081.hp2 others(1): Show NA18978.hp2 NA18982.hp2 NA19081.hp2 NA19088.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0004 a0002c0106 a0003c0107 others(1): Show a0002c0004 a0002c0106 a0003c0107 a0004c0060	a0002c0004t0001 a0002c0106t0001 a0003c0107t0001 others(1): Show a0002c0004t0001 a0002c0106t0001 a0003c0107t0001 a0004c0060t0001	a0002c0004t0001g0248 a0002c0106t0001g0240 a0003c0107t0001g0242 others(1): Show a0002c0004t0001g0248 a0002c0106t0001g0240 a0003c0107t0001g0242 a0004c0060t0001g0018	4	302	0.0132	13	c.85- others(30): Show c.85-10578_85-10577insCCTAATTATATGT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253336	T T	TACATATA others(6): Show TACATATAATTAGG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19009.hp1 NA19002.hp1 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0058 a0001c0003 a0001c0058	a0001c0003t0001 a0001c0058t0001 a0001c0003t0001 a0001c0058t0001	a0001c0003t0001g0016 a0001c0058t0001g0102 a0001c0003t0001g0016 a0001c0058t0001g0102	2	335	0.0060	13	c.85- others(30): Show c.85-10603_85-10602insCCTAATTATATGT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar

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