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
COG6_chr13_39650662_39757628	39651677	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	10	0.1000	25	c.-40 others(36): Show c.-4050_-4049insTTTTTTTTTTTTTTTTTTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding		3984		chr13	TogoVar
COG6_chr13_39650662_39757628	39730773	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	32	0.0313	25	c.182 others(44): Show c.1826+3227_1826+3251dupAAAAAAAAAAAAAAAAAAAAAAAAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG7_chr16_23383493_23458189	23449380	T T	TTAAAATA others(18): Show TTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	122	0.0082	25	c.169 others(42): Show c.169+3421_170-3420dupTTTTATTTTATTTTATTTTATTTTA	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	1/16			chr16	TogoVar
COIL_chr17_56933199_56966050	56952954	C C	CCTCAATG others(18): Show CCTCAATGTTAAGCAAATTGTGAGTA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	416	0.0024	25	c.246 others(42): Show c.246-1983_246-1959dupTACTCACAATTTGCTTAACATTGAG	COIL	ENSG00000121058.5	transcript	ENST00000240316.5	protein_coding	1/6			chr17	TogoVar
COL11A1_chr1_102871473_103113522	102976289	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0182 a0002c0033t0001g0182	1	11	0.0909	25	c.275 others(44): Show c.2755-1431_2755-1407dupAAAAAAAAAAAAAAAAAAAAAAAAA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	35/66			chr1	TogoVar
COL12A1_chr6_75079326_75211053	75208160	C C	CTCTCTCT others(18): Show CTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0057 a0003c0003t0001g0057	1	189	0.0053	25	c.-24 others(36): Show c.-2420_-2419insAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2108		chr6	TogoVar
COL14A1_chr8_120120102_120378573	120229089	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19090.hp1 NA18954.hp2 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0089 a0001c0003t0002g0166 a0001c0003t0001g0089 a0001c0003t0002g0166	2	54	0.0370	25	c.219 others(42): Show c.2197+324_2197+348dupTATTTTATTTTATTTTATTTTATTT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	18/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL15A1_chr9_98938907_99075787	98941620	T T	TGCACTCC others(18): Show TGCACTCCATCCTGGGTGACAGAGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(110): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG03017.hp1 HG03017.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18960.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0018 a0021 a0022 a0024 a0026 a0030 a0031 a0032 a0035 a0036 a0038 a0039 a0040 a0041 a0045 a0051	a0001c0001 a0001c0013 a0002c0002 others(39): Show a0001c0001 a0001c0013 a0002c0002 a0002c0003 a0002c0010 a0002c0069 a0003c0004 a0003c0006 a0003c0036 a0004c0005 a0005c0015 a0005c0019 a0005c0061 a0006c0007 a0007c0008 a0008c0009 a0009c0012 a0010c0011 a0011c0020 a0011c0049 a0012c0018 a0013c0017 a0014c0016 a0015c0014 a0016c0022 a0018c0023 a0021c0035 a0022c0032 a0024c0025 a0026c0053 a0026c0054 a0030c0072 a0031c0056 a0032c0062 a0035c0055 a0036c0052 a0038c0063 a0039c0076 a0040c0079 a0041c0041 a0045c0066 a0051c0071	a0001c0001t0002 a0001c0001t0003 a0001c0013t0001 others(44): Show a0001c0001t0002 a0001c0001t0003 a0001c0013t0001 a0002c0002t0001 a0002c0003t0002 a0002c0010t0001 a0002c0069t0010 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0006t0001 a0003c0036t0001 a0004c0005t0001 a0005c0015t0001 a0005c0019t0003 a0005c0061t0001 a0006c0007t0001 a0007c0008t0002 a0008c0009t0002 a0009c0012t0002 a0009c0012t0005 a0010c0011t0002 a0010c0011t0003 a0011c0020t0001 a0011c0049t0001 a0012c0018t0001 a0013c0017t0001 a0014c0016t0001 a0015c0014t0002 a0016c0022t0001 a0018c0023t0002 a0021c0035t0003 a0022c0032t0002 a0024c0025t0003 a0026c0053t0001 a0026c0054t0001 a0030c0072t0001 a0031c0056t0002 a0032c0062t0001 a0035c0055t0002 a0036c0052t0002 a0038c0063t0001 a0039c0076t0002 a0040c0079t0004 a0041c0041t0001 a0045c0066t0010 a0051c0071t0001	a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0171 others(110): Show a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0171 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0265 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0308 a0001c0001t0003g0234 a0001c0013t0001g0015 a0001c0013t0001g0046 a0001c0013t0001g0257 a0002c0002t0001g0007 a0002c0002t0001g0043 a0002c0002t0001g0235 a0002c0002t0001g0245 a0002c0002t0001g0281 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0003t0002g0236 a0002c0003t0002g0241 a0002c0010t0001g0008 a0002c0010t0001g0021 a0002c0069t0010g0047 a0003c0004t0001g0030 a0003c0004t0002g0256 a0003c0004t0002g0270 a0003c0004t0002g0271 a0003c0004t0002g0272 a0003c0004t0002g0275 a0003c0004t0002g0284 a0003c0004t0002g0299 a0003c0004t0002g0303 a0003c0004t0003g0263 a0003c0006t0001g0264 a0003c0006t0001g0269 a0003c0006t0001g0279 a0003c0006t0001g0298 a0003c0036t0001g0274 a0004c0005t0001g0006 a0004c0005t0001g0017 a0004c0005t0001g0042 a0004c0005t0001g0045 a0004c0005t0001g0261 a0004c0005t0001g0276 a0004c0005t0001g0295 a0004c0005t0001g0307 a0005c0015t0001g0029 a0005c0015t0001g0040 a0005c0015t0001g0273 a0005c0015t0001g0290 a0005c0019t0003g0289 a0005c0061t0001g0041 a0006c0007t0001g0038 a0006c0007t0001g0039 a0007c0008t0002g0238 a0007c0008t0002g0239 a0007c0008t0002g0240 a0007c0008t0002g0244 a0007c0008t0002g0247 a0007c0008t0002g0262 a0007c0008t0002g0268 a0007c0008t0002g0293 a0007c0008t0002g0306 a0008c0009t0002g0024 a0008c0009t0002g0026 a0008c0009t0002g0237 a0008c0009t0002g0258 a0008c0009t0002g0285 a0008c0009t0002g0297 a0009c0012t0002g0277 a0009c0012t0005g0304 a0010c0011t0002g0031 a0010c0011t0002g0032 a0010c0011t0002g0037 a0010c0011t0002g0044 a0010c0011t0003g0246 a0011c0020t0001g0294 a0011c0049t0001g0300 a0012c0018t0001g0033 a0012c0018t0001g0035 a0012c0018t0001g0036 a0012c0018t0001g0252 a0012c0018t0001g0282 a0013c0017t0001g0019 a0014c0016t0001g0309 a0015c0014t0002g0250 a0015c0014t0002g0280 a0016c0022t0001g0301 a0018c0023t0002g0248 a0018c0023t0002g0266 a0018c0023t0002g0267 a0021c0035t0003g0286 a0021c0035t0003g0296 a0022c0032t0002g0243 a0022c0032t0002g0260 a0024c0025t0003g0255 a0026c0053t0001g0291 a0026c0054t0001g0013 a0030c0072t0001g0034 a0031c0056t0002g0009 a0032c0062t0001g0020 a0035c0055t0002g0025 a0036c0052t0002g0259 a0038c0063t0001g0023 a0039c0076t0002g0027 a0040c0079t0004g0283 a0041c0041t0001g0292 a0045c0066t0010g0048 a0051c0071t0001g0278	113	303	0.3729	25	c.-24 others(36): Show c.-2442_-2441insGCACTCCATCCTGGGTGACAGAGCG	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding		2286		chr9	TogoVar
COL15A1_chr9_98938907_99075787	98941620	T T	TGCACTCC others(18): Show TGCACTCCATCCTGGGTGATAGAGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0242 a0001c0013t0001g0242	1	191	0.0052	25	c.-24 others(36): Show c.-2442_-2441insGCACTCCATCCTGGGTGATAGAGCG	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding		2286		chr9	TogoVar
COL15A1_chr9_98938907_99075787	98950449	T T	TCCTTCCC others(18): Show TCCTTCCCTCCTTCCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02055.hp2 others(2): Show HG01516.hp1 HG01517.hp1 HG02055.hp2 HG02735.hp1 HG03239.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0007c0037	a0001c0001t0002 a0002c0002t0001 a0003c0004t0002 others(1): Show a0001c0001t0002 a0002c0002t0001 a0003c0004t0002 a0007c0037t0001	a0001c0001t0002g0209 a0002c0002t0001g0178 a0003c0004t0002g0188 others(2): Show a0001c0001t0002g0209 a0002c0002t0001g0178 a0003c0004t0002g0188 a0003c0004t0002g0189 a0007c0037t0001g0187	5	307	0.0163	25	c.100 others(42): Show c.100+6231_100+6255dupCTCCTTCCTTCCCTCCCTCCCTTCC	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99024268	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0245	1	235	0.0043	25	c.185 others(42): Show c.1855-598_1855-597insTTTTTTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	14/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99066599	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0001 a0008c0033t0001	a0008c0033t0001g0134 a0008c0033t0001g0134	1	104	0.0096	25	c.365 others(42): Show c.3652-282_3652-258dupTTTTTTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL16A1_chr1_31647263_31709017	31707338	C C	CCTTTTCT others(18): Show CCTTTTCTTTTCTTTTCTTTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01109.hp1 others(22): Show HG00642.hp2 HG00741.hp2 HG01109.hp1 HG01109.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02056.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02630.hp2 HG03453.hp1 HG03516.hp2 HG03688.hp2 HG03831.hp2 HG04199.hp1 NA18747.hp2 NA18939.hp1 NA19002.hp2 NA19090.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0044 a0003c0007 a0006c0043	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0005t0002 a0001c0008t0001 a0001c0008t0002 a0001c0044t0001 a0003c0007t0001 a0006c0043t0001	a0001c0001t0001g0001 a0001c0001t0001g0103 a0001c0001t0001g0138 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0103 a0001c0001t0001g0138 a0001c0001t0001g0242 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0260 a0001c0003t0001g0269 a0001c0003t0002g0225 a0001c0005t0002g0278 a0001c0008t0001g0217 a0001c0008t0001g0218 a0001c0008t0002g0214 a0001c0044t0001g0211 a0003c0007t0001g0002 a0003c0007t0001g0276 a0003c0007t0001g0280 a0003c0007t0001g0282 a0006c0043t0001g0213	25	253	0.0988	25	c.-35 others(36): Show c.-3537_-3536insAAAAGAAAAGAAAAGAAAAGAAAAG	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3322		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45409041	T T	TGGCTGAG others(18): Show TGGCTGAGCACAGCCCCACAGGCTGG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0002 a0006c0016t0002	a0006c0016t0002g0292 a0006c0016t0002g0292	1	46	0.0217	25	c.106 others(42): Show c.106+3573_106+3574insAGCACAGCCCCACAGGCTGGGGCTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45434061	G G	GTGTGTGA others(18): Show GTGTGTGAGCAGGTGCATGGGCCAGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp2 others(14): Show HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00738.hp1 HG01106.hp1 HG01361.hp2 HG01943.hp1 HG01993.hp2 HG02129.hp2 HG02135.hp1 HG03017.hp2 HG03942.hp2 NA18961.hp2 NA19010.hp1 NA19010.hp2 NA19064.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0016	a0001c0004 a0001c0007 a0001c0010 others(5): Show a0001c0004 a0001c0007 a0001c0010 a0001c0051 a0004c0033 a0005c0053 a0005c0069 a0016c0040	a0001c0004t0001 a0001c0007t0002 a0001c0010t0002 others(6): Show a0001c0004t0001 a0001c0007t0002 a0001c0010t0002 a0001c0010t0006 a0001c0051t0001 a0004c0033t0001 a0005c0053t0001 a0005c0069t0002 a0016c0040t0001	a0001c0004t0001g0063 a0001c0004t0001g0079 a0001c0004t0001g0140 others(14): Show a0001c0004t0001g0063 a0001c0004t0001g0079 a0001c0004t0001g0140 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0181 a0001c0004t0001g0253 a0001c0004t0001g0286 a0001c0007t0002g0133 a0001c0007t0002g0210 a0001c0010t0002g0152 a0001c0010t0006g0014 a0001c0051t0001g0248 a0004c0033t0001g0121 a0005c0053t0001g0061 a0005c0069t0002g0060 a0016c0040t0001g0095	17	289	0.0588	25	c.106 others(44): Show c.106+28612_106+28613insATGTGTGAGCAGGTGCATGGGCCAG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921379	T T	TATATATC others(18): Show TATATATCATATATATCATATATATC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0137 a0001c0008t0004g0137	1	180	0.0056	25	c.267 others(42): Show c.267-6508_267-6507insATCATATATCATATATATCATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL22A1_chr8_138583235_138919041	138636480	A A	AGAAAGGA others(18): Show AGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02895.hp1 HG02965.hp2 others(5): Show HG02735.hp1 HG02895.hp1 HG02965.hp2 HG03688.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA20752.hp1	a0002 a0004 a0010 others(1): Show a0002 a0004 a0010 a0015	a0002c0005 a0002c0009 a0002c0023 others(3): Show a0002c0005 a0002c0009 a0002c0023 a0004c0019 a0010c0042 a0015c0055	a0002c0005t0001 a0002c0005t0003 a0002c0009t0001 others(4): Show a0002c0005t0001 a0002c0005t0003 a0002c0009t0001 a0002c0023t0001 a0004c0019t0001 a0010c0042t0013 a0015c0055t0005	a0002c0005t0001g0068 a0002c0005t0003g0008 a0002c0009t0001g0072 others(5): Show a0002c0005t0001g0068 a0002c0005t0003g0008 a0002c0009t0001g0072 a0002c0009t0001g0114 a0002c0023t0001g0037 a0004c0019t0001g0131 a0010c0042t0013g0140 a0015c0055t0005g0150	8	119	0.0672	25	c.355 others(42): Show c.3555+237_3555+261dupCTTTCCTTTCCTTTCCTTTCCTTTC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138636532	A A	AAAGGAAA others(18): Show AAAGGAAAGGAAAGGAAAGGAAAGGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01884.hp1 others(7): Show HG00741.hp1 HG01109.hp2 HG01884.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG03209.hp1 HG03453.hp2 NA19240.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0016	a0001c0010 a0001c0012 a0001c0014 others(7): Show a0001c0010 a0001c0012 a0001c0014 a0001c0016 a0001c0027 a0002c0004 a0002c0022 a0002c0052 a0008c0036 a0016c0030	a0001c0010t0001 a0001c0012t0005 a0001c0014t0001 others(7): Show a0001c0010t0001 a0001c0012t0005 a0001c0014t0001 a0001c0016t0001 a0001c0027t0001 a0002c0004t0002 a0002c0022t0001 a0002c0052t0002 a0008c0036t0002 a0016c0030t0004	a0001c0010t0001g0029 a0001c0012t0005g0143 a0001c0014t0001g0120 others(7): Show a0001c0010t0001g0029 a0001c0012t0005g0143 a0001c0014t0001g0120 a0001c0016t0001g0087 a0001c0027t0001g0023 a0002c0004t0002g0097 a0002c0022t0001g0041 a0002c0052t0002g0060 a0008c0036t0002g0090 a0016c0030t0004g0025	10	59	0.1695	25	c.355 others(42): Show c.3555+209_3555+210insGCCTTTCCTTTCCTTTCCTTTCCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178294413	T T	TCCCCAAA others(18): Show TCCCCAAATCACTACCGAGCTCCCTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03017.hp2 HG01261.hp2 HG03017.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0008 a0002c0002 a0005c0008	a0002c0002t0001 a0005c0008t0002 a0002c0002t0001 a0005c0008t0002	a0002c0002t0001g0085 a0005c0008t0002g0003 a0002c0002t0001g0085 a0005c0008t0002g0003	2	151	0.0132	25	c.407 others(42): Show c.407-4045_407-4044insGAGGGAGCTCGGTAGTGATTTGGGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178556625	T T	TTAAAATA others(18): Show TTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02615.hp2 others(6): Show HG01884.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02809.hp2 HG03209.hp1 HG04228.hp2 HG06807.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0009 a0003c0007	a0001c0001t0003 a0001c0001t0006 a0002c0002t0010 others(3): Show a0001c0001t0003 a0001c0001t0006 a0002c0002t0010 a0002c0003t0002 a0002c0009t0008 a0003c0007t0001	a0001c0001t0003g0006 a0001c0001t0003g0210 a0001c0001t0003g0212 others(6): Show a0001c0001t0003g0006 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0006g0230 a0002c0002t0010g0228 a0002c0003t0002g0211 a0002c0009t0008g0235 a0003c0007t0001g0137	9	135	0.0667	25	c.361 others(42): Show c.361+4032_361+4056dupTTTTATTTTATTTTATTTTATTTTA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85906264	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02735.hp2 HG03516.hp1 others(1): Show HG02451.hp1 HG02735.hp2 HG03516.hp1 NA20129.hp1	a0005 a0006 a0007 others(1): Show a0005 a0006 a0007 a0017	a0005c0013 a0006c0032 a0007c0010 others(1): Show a0005c0013 a0006c0032 a0007c0010 a0017c0023	a0005c0013t0002 a0006c0032t0012 a0007c0010t0004 others(1): Show a0005c0013t0002 a0006c0032t0012 a0007c0010t0004 a0017c0023t0004	a0005c0013t0002g0163 a0006c0032t0012g0069 a0007c0010t0004g0149 others(1): Show a0005c0013t0002g0163 a0006c0032t0012g0069 a0007c0010t0004g0149 a0017c0023t0004g0108	4	33	0.1212	25	c.277 others(42): Show c.2778+929_2778+930insAAAAAAAAAAAAAAAAAAAAAAAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	28/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108835861	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02165.hp2 HG02145.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0002 a0001c0001t0003 a0001c0005t0002	a0001c0001t0003g0018 a0001c0005t0002g0123 a0001c0001t0003g0018 a0001c0005t0002g0123	2	20	0.1000	25	c.165 others(44): Show c.1657-3453_1657-3429dupAAAAAAAAAAAAAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	31/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108961568	C C	CCTGTTCT others(18): Show CCTGTTCTGTTCTGTTCTGTTCTGTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01071.hp1 HG02145.hp2 others(2): Show HG00140.hp2 HG01071.hp1 HG02145.hp2 HG02293.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0003 a0001c0004t0001 a0001c0004t0002 others(2): Show a0001c0001t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0005t0002	a0001c0001t0003g0015 a0001c0004t0001g0127 a0001c0004t0002g0083 others(2): Show a0001c0001t0003g0015 a0001c0004t0001g0127 a0001c0004t0002g0083 a0001c0004t0004g0027 a0001c0005t0002g0123	5	46	0.1087	25	c.492 others(44): Show c.492+12774_492+12798dupAACAGAACAGAACAGAACAGAACAG	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	8/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109217534	C C	CAATGCAA others(18): Show CAATGCAATGCAATGTATAATGTATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01884.hp2 HG01891.hp1 others(19): Show HG00140.hp2 HG01884.hp2 HG01891.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02886.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp2 NA18952.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 a0001c0002t0021 a0001c0004t0001 a0001c0004t0002 a0001c0005t0002	a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0074 others(19): Show a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0106 a0001c0001t0002g0071 a0001c0001t0002g0094 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0011g0044 a0001c0001t0011g0047 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0005g0042 a0001c0002t0005g0112 a0001c0002t0013g0067 a0001c0002t0013g0070 a0001c0002t0021g0082 a0001c0004t0001g0043 a0001c0004t0002g0083 a0001c0005t0002g0123 a0001c0005t0002g0124	22	130	0.1692	25	c.367 others(44): Show c.367+83048_367+83049insTATACATTATACATTGCATTGCATT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109256121	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	128	0.0078	25	c.367 others(44): Show c.367+44461_367+44462insCACACACACACACACACACACACAC	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101391854	C C	CTTTCTTT others(18): Show CTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0028 a0006c0019t0028	a0006c0019t0028g0141 a0006c0019t0028g0141	1	54	0.0185	25	c.159 others(44): Show c.159-28109_159-28085dupCTTTTCTTTTCTTTTCTTTTCTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101494127	C C	CGTTTTAT others(18): Show CGTTTTATTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00609.hp1 others(18): Show HG00280.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG01257.hp1 HG01258.hp1 HG01978.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02486.hp2 HG02572.hp1 HG02809.hp1 HG04199.hp1 NA18984.hp2 NA19005.hp2 NA19054.hp1 NA19060.hp2 NA19080.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0004c0011 a0007c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0006 a0001c0005t0012 a0001c0014t0009 a0002c0003t0001 a0002c0004t0001 a0002c0006t0004 a0002c0007t0004 a0004c0011t0003 a0007c0016t0004	a0001c0001t0001g0115 a0001c0001t0002g0062 a0001c0001t0002g0114 others(18): Show a0001c0001t0001g0115 a0001c0001t0002g0062 a0001c0001t0002g0114 a0001c0001t0002g0138 a0001c0001t0009g0118 a0001c0001t0009g0167 a0001c0001t0009g0168 a0001c0002t0006g0021 a0001c0005t0012g0160 a0001c0014t0009g0089 a0002c0003t0001g0060 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0094 a0002c0004t0001g0125 a0002c0006t0004g0010 a0002c0007t0004g0019 a0002c0007t0004g0046 a0004c0011t0003g0011 a0004c0011t0003g0037 a0007c0016t0004g0034	21	161	0.1304	25	c.386 others(44): Show c.386-38950_386-38949insATTTTGTTTTGTTTTGTTTTGTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101510027	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02965.hp1 HG01243.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0002 a0002c0004t0001 a0001c0005t0002 a0002c0004t0001	a0001c0005t0002g0164 a0002c0004t0001g0152 a0001c0005t0002g0164 a0002c0004t0001g0152	2	103	0.0194	25	c.386 others(44): Show c.386-23041_386-23040insTTTTTTTTTTTTTTTTTTTTTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL28A1_chr7_7352875_7540873	7374038	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0026 a0026	a0026c0025 a0026c0025	a0026c0025t0001 a0026c0025t0001	a0026c0025t0001g0162 a0026c0025t0001g0162	1	56	0.0179	25	c.236 others(42): Show c.2360-493_2360-492insATATATATATATATTTTTTTTTTTT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	31/34			chr7	TogoVar
COL3A1_chr2_188969373_189017746	188972936	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0272 a0002c0002t0001g0272	1	46	0.0217	25	c.-15 others(36): Show c.-1554_-1553insAAAAAAAAAAAAAAAAAAAAAAAAA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		1436		chr2	TogoVar
COL4A1_chr13_110143963_110312157	110253184	T T	TTATATAT others(18): Show TTATATATACATGTAACTATATGTAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0096 a0004c0005t0001g0096	1	338	0.0030	25	c.85- others(42): Show c.85-10451_85-10450insGTACATATAGTTACATGTATATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253264	T T	TATATACA others(18): Show TATATACATATAATTATATGTATTAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01993.hp2 HG02132.hp1 others(15): Show HG00735.hp1 HG01993.hp2 HG02132.hp1 HG02165.hp2 HG02735.hp2 HG03239.hp1 HG03669.hp2 HG03704.hp2 HG04184.hp1 NA18522.hp2 NA18952.hp1 NA18957.hp1 NA18963.hp1 NA18998.hp1 NA19009.hp2 NA19012.hp2 NA19087.hp2 NA20752.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0009	a0001c0001 a0001c0006 a0001c0007 others(12): Show a0001c0001 a0001c0006 a0001c0007 a0001c0062 a0002c0002 a0002c0004 a0002c0018 a0002c0024 a0002c0031 a0002c0044 a0002c0082 a0004c0005 a0004c0061 a0008c0063 a0009c0087	a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 others(12): Show a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 a0001c0062t0001 a0002c0002t0002 a0002c0004t0001 a0002c0018t0001 a0002c0024t0010 a0002c0031t0002 a0002c0044t0002 a0002c0082t0002 a0004c0005t0001 a0004c0061t0003 a0008c0063t0003 a0009c0087t0011	a0001c0001t0001g0013 a0001c0001t0001g0123 a0001c0006t0001g0136 others(15): Show a0001c0001t0001g0013 a0001c0001t0001g0123 a0001c0006t0001g0136 a0001c0007t0001g0122 a0001c0007t0001g0143 a0001c0062t0001g0019 a0002c0002t0002g0268 a0002c0002t0002g0293 a0002c0004t0001g0212 a0002c0018t0001g0232 a0002c0024t0010g0334 a0002c0031t0002g0306 a0002c0044t0002g0319 a0002c0082t0002g0294 a0004c0005t0001g0005 a0004c0061t0003g0129 a0008c0063t0003g0106 a0009c0087t0011g0287	18	294	0.0612	25	c.85- others(42): Show c.85-10555_85-10531dupGTAATACATATAATTATATGTATAT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253382	T T	TGTATTAC others(18): Show TGTATTACATATACATATAATTATAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01993.hp1 HG01981.hp2 HG01993.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0003 a0002c0028t0004 a0002c0028t0003 a0002c0028t0004	a0002c0028t0003g0262 a0002c0028t0004g0328 a0002c0028t0003g0262 a0002c0028t0004g0328	2	274	0.0073	25	c.85- others(42): Show c.85-10649_85-10648insGTATAATTATATGTATATGTAATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253432	T T	TGTATTAC others(18): Show TGTATTACATATACATATAATTATAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0002 a0002c0040t0002	a0002c0040t0002g0337 a0002c0040t0002g0337	1	270	0.0037	25	c.85- others(42): Show c.85-10699_85-10698insGTATAATTATATGTATATGTAATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253457	T T	TGTATTAC others(18): Show TGTATTACATATACATATAATTATAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp2 HG02055.hp1 others(1): Show HG00738.hp1 HG01123.hp2 HG02055.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0002c0004t0001 a0001c0001t0001 a0001c0001t0005 a0002c0004t0001	a0001c0001t0001g0021 a0001c0001t0005g0022 a0002c0004t0001g0191 others(1): Show a0001c0001t0001g0021 a0001c0001t0005g0022 a0002c0004t0001g0191 a0002c0004t0001g0205	4	331	0.0121	25	c.85- others(42): Show c.85-10724_85-10723insGTATAATTATATGTATATGTAATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253482	T T	TGTATTAC others(18): Show TGTATTACATATACATATAATTATAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18953.hp2 NA18944.hp1 NA18953.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0053 a0001c0003 a0004c0053	a0001c0003t0001 a0004c0053t0001 a0001c0003t0001 a0004c0053t0001	a0001c0003t0001g0088 a0004c0053t0001g0057 a0001c0003t0001g0088 a0004c0053t0001g0057	2	319	0.0063	25	c.85- others(42): Show c.85-10749_85-10748insGTATAATTATATGTATATGTAATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202763	A A	ATATATAT others(18): Show ATATATATATTATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	332	0.0030	25	c.88- others(42): Show c.88-35196_88-35195insTATATATATATATATGTATATATAT	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(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	56	0.0179	25	c.546 others(40): Show c.546+711_546+712insATATATATATATATATATATTTTTT	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(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0029 a0029	a0029c0046 a0029c0046	a0029c0046t0001 a0029c0046t0001	a0029c0046t0001g0312 a0029c0046t0001g0312	1	56	0.0179	25	c.546 others(40): Show c.546+711_546+712insATATATATATATATATTTTTTTTTT	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(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0160 a0008c0009t0001g0160	1	56	0.0179	25	c.546 others(40): Show c.546+711_546+712insATATATATATATATTTTTTTTTTTT	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(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0002 a0011c0014t0002	a0011c0014t0002g0214 a0011c0014t0002g0214	1	56	0.0179	25	c.546 others(40): Show c.546+711_546+712insATATATATATATTTTTTTTTTTTTT	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(18): Show ATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0246 a0003c0011t0001g0246	1	56	0.0179	25	c.546 others(40): Show c.546+711_546+712insATATATATTTTTTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	99	0.0101	25	c.81+ others(42): Show c.81+33428_81+33429insATATATATATATATATATATTTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL5A1_chr9_134636803_134849843	134669235	T T	TCCTTCCC others(18): Show TCCTTCCCTTCCCTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0051 a0001c0012t0051	a0001c0012t0051g0085 a0001c0012t0051g0085	1	115	0.0087	25	c.110 others(44): Show c.110-21643_110-21619dupTCCCTTCCCTTCCCTTCCCTTCCCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134669289	T T	TCCCTTCC others(18): Show TCCCTTCCCTTCCCTTCCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0057 a0001c0044t0057	a0001c0044t0057g0042 a0001c0044t0057g0042	1	208	0.0048	25	c.110 others(44): Show c.110-21619_110-21618insTCCCTTCCCTTCCCTTCCCTCCCCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG04115.hp1 NA18972.hp1 others(1): Show HG02135.hp2 HG04115.hp1 NA18972.hp1 NA19043.hp2	a0001 a0004 a0026 a0001 a0004 a0026	a0001c0040 a0004c0010 a0004c0108 others(1): Show a0001c0040 a0004c0010 a0004c0108 a0026c0084	a0001c0040t0005 a0004c0010t0023 a0004c0108t0004 others(1): Show a0001c0040t0005 a0004c0010t0023 a0004c0108t0004 a0026c0084t0012	a0001c0040t0005g0164 a0004c0010t0023g0013 a0004c0108t0004g0349 others(1): Show a0001c0040t0005g0164 a0004c0010t0023g0013 a0004c0108t0004g0349 a0026c0084t0012g0178	4	226	0.0177	25	c.214 others(42): Show c.2145+268_2145+269insCTTTCTCTCTCTCTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45979312	A A	AGGCCAGG others(18): Show AGGCCAGGATGAAGCCTGGGACCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0001 a0005c0023t0001	a0005c0023t0001g0060 a0005c0023t0001g0060	1	125	0.0080	25	c.-25 others(36): Show c.-2539_-2538insGGCCAGGATGAAGCCTGGGACCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		2457		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135315	A A	AAATGTCC others(18): Show AAATGTCCCCTCATGGTCCCAACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01074.hp1 others(37): Show HG00423.hp2 HG00597.hp1 HG01074.hp1 HG01109.hp1 HG01243.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01981.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18994.hp2 NA19030.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0007 a0001c0026 a0001c0035 others(11): Show a0001c0007 a0001c0026 a0001c0035 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0002c0003 a0002c0013 a0003c0008 a0003c0016 a0003c0054 a0004c0005 a0008c0027	a0001c0007t0003 a0001c0026t0005 a0001c0035t0001 others(11): Show a0001c0007t0003 a0001c0026t0005 a0001c0035t0001 a0001c0044t0003 a0001c0045t0001 a0001c0046t0001 a0001c0047t0001 a0002c0003t0001 a0002c0013t0003 a0003c0008t0003 a0003c0016t0001 a0003c0054t0003 a0004c0005t0004 a0008c0027t0003	a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 others(36): Show a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 a0001c0007t0003g0263 a0001c0007t0003g0264 a0001c0026t0005g0232 a0001c0026t0005g0233 a0001c0035t0001g0053 a0001c0044t0003g0196 a0001c0045t0001g0052 a0001c0046t0001g0248 a0001c0047t0001g0244 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0013t0003g0068 a0002c0013t0003g0070 a0003c0008t0003g0045 a0003c0008t0003g0046 a0003c0008t0003g0051 a0003c0008t0003g0190 a0003c0008t0003g0191 a0003c0008t0003g0192 a0003c0008t0003g0198 a0003c0008t0003g0200 a0003c0008t0003g0201 a0003c0016t0001g0230 a0003c0054t0003g0197 a0004c0005t0004g0048 a0004c0005t0004g0193 a0004c0005t0004g0202 a0004c0005t0004g0204 a0004c0005t0004g0205 a0004c0005t0004g0209 a0004c0005t0004g0211 a0004c0005t0004g0212 a0004c0005t0004g0214 a0004c0005t0004g0215 a0004c0005t0004g0229 a0008c0027t0003g0015	40	361	0.1108	25	c.27 others(36): Show c.2763_*2764insAATGTCCCCTCATGGTCCCAACACC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2468		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135325	T T	TCATGGTC others(18): Show TCATGGTCCCAACACCAATGTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(42): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG01109.hp2 HG01255.hp2 HG01257.hp2 HG01884.hp1 HG02040.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02258.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18947.hp2 NA19030.hp1 NA19065.hp2 NA19070.hp1 NA19080.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0004 a0002c0003 others(5): Show a0001c0002 a0001c0004 a0002c0003 a0002c0061 a0002c0062 a0003c0010 a0003c0064 a0004c0005	a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 others(6): Show a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 a0002c0003t0015 a0002c0061t0001 a0002c0062t0001 a0003c0010t0001 a0003c0064t0001 a0004c0005t0004	a0001c0002t0001g0040 a0001c0002t0001g0320 a0001c0004t0001g0009 others(40): Show a0001c0002t0001g0040 a0001c0002t0001g0320 a0001c0004t0001g0009 a0001c0004t0001g0129 a0002c0003t0001g0007 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0058 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0069 a0002c0003t0001g0072 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0015g0088 a0002c0061t0001g0067 a0002c0062t0001g0227 a0003c0010t0001g0206 a0003c0010t0001g0208 a0003c0064t0001g0194 a0004c0005t0004g0237 a0004c0005t0004g0238	45	362	0.1243	25	c.27 others(36): Show c.2773_*2774insCATGGTCCCAACACCAATGTCCCCA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2478		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135350	T T	TCATGGTC others(18): Show TCATGGTCCCAACACCAATGTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02055.hp2 HG02083.hp2 others(4): Show HG00639.hp2 HG02055.hp2 HG02083.hp2 HG03516.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0007 a0002c0013 a0002c0031 others(3): Show a0001c0007 a0002c0013 a0002c0031 a0002c0055 a0003c0063 a0010c0057	a0001c0007t0001 a0002c0013t0001 a0002c0031t0001 others(3): Show a0001c0007t0001 a0002c0013t0001 a0002c0031t0001 a0002c0055t0001 a0003c0063t0001 a0010c0057t0001	a0001c0007t0001g0301 a0002c0013t0001g0216 a0002c0013t0001g0218 others(4): Show a0001c0007t0001g0301 a0002c0013t0001g0216 a0002c0013t0001g0218 a0002c0031t0001g0217 a0002c0055t0001g0049 a0003c0063t0001g0047 a0010c0057t0001g0220	7	361	0.0194	25	c.27 others(36): Show c.2798_*2799insCATGGTCCCAACACCAATGTCCCCA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2503		chr21	TogoVar

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