Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
COBLL1_chr2_164675188_164846823	164799019	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02055.hp1 HG02109.hp1 others(9): Show HG00735.hp1 HG02055.hp1 HG02109.hp1 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02895.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 NA21309.hp1	a0001 a0004 a0018 a0001 a0004 a0018	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0004c0032 a0018c0034	a0001c0001t0014 a0001c0001t0033 a0001c0002t0002 others(8): Show a0001c0001t0014 a0001c0001t0033 a0001c0002t0002 a0001c0002t0013 a0001c0002t0049 a0001c0002t0051 a0001c0002t0058 a0001c0002t0060 a0001c0012t0001 a0004c0032t0001 a0018c0034t0032	a0001c0001t0014g0019 a0001c0001t0033g0052 a0001c0002t0002g0165 others(9): Show a0001c0001t0014g0019 a0001c0001t0033g0052 a0001c0002t0002g0165 a0001c0002t0013g0028 a0001c0002t0013g0053 a0001c0002t0049g0005 a0001c0002t0051g0003 a0001c0002t0058g0164 a0001c0002t0060g0162 a0001c0012t0001g0014 a0004c0032t0001g0163 a0018c0034t0032g0024	12	212	0.0566	5	c.41+ others(22): Show c.41+42132_41+42136dupTTTTT		COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13						chr2	TogoVar
COBLL1_chr2_164675188_164846823	164803564	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp1 HG01106.hp2 others(27): Show HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01496.hp2 HG01516.hp1 HG01934.hp1 HG01952.hp1 HG02083.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03195.hp2 HG03486.hp1 HG03490.hp2 HG06807.hp1 NA18939.hp2 NA18966.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0012 a0015 a0018	a0001c0001 a0001c0002 a0001c0012 others(7): Show a0001c0001 a0001c0002 a0001c0012 a0001c0025 a0002c0003 a0003c0004 a0005c0020 a0012c0027 a0015c0018 a0018c0034	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(16): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0038 a0001c0001t0050 a0001c0002t0010 a0001c0002t0046 a0001c0002t0062 a0001c0012t0001 a0001c0025t0037 a0002c0003t0054 a0003c0004t0006 a0003c0004t0014 a0005c0020t0031 a0012c0027t0010 a0015c0018t0001 a0018c0034t0032	a0001c0001t0001g0015 a0001c0001t0001g0061 a0001c0001t0001g0063 others(27): Show a0001c0001t0001g0015 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0007g0055 a0001c0001t0014g0019 a0001c0001t0017g0206 a0001c0001t0017g0208 a0001c0001t0018g0167 a0001c0001t0018g0168 a0001c0001t0038g0207 a0001c0001t0050g0020 a0001c0002t0010g0017 a0001c0002t0010g0018 a0001c0002t0046g0016 a0001c0002t0062g0023 a0001c0012t0001g0014 a0001c0025t0037g0069 a0002c0003t0054g0169 a0003c0004t0006g0062 a0003c0004t0006g0064 a0003c0004t0006g0065 a0003c0004t0006g0067 a0003c0004t0014g0059 a0005c0020t0031g0060 a0012c0027t0010g0166 a0015c0018t0001g0054 a0018c0034t0032g0024	30	212	0.1415	5	c.41+ others(22): Show c.41+37587_41+37591dupTTTTT		COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13						chr2	TogoVar
COBLL1_chr2_164675188_164846823	164803566	A A	AAAAAT AAAAAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02055.hp1 HG02622.hp1 others(5): Show HG01175.hp1 HG02055.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 NA19030.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0001c0002 a0019c0026 a0001c0001 a0001c0002 a0019c0026	a0001c0001t0001 a0001c0001t0033 a0001c0001t0043 others(4): Show a0001c0001t0001 a0001c0001t0033 a0001c0001t0043 a0001c0002t0013 a0001c0002t0034 a0001c0002t0051 a0019c0026t0008	a0001c0001t0001g0045 a0001c0001t0033g0052 a0001c0001t0043g0046 others(5): Show a0001c0001t0001g0045 a0001c0001t0033g0052 a0001c0001t0043g0046 a0001c0002t0013g0028 a0001c0002t0013g0053 a0001c0002t0034g0034 a0001c0002t0051g0003 a0019c0026t0008g0033	8	212	0.0377	5	c.41+ others(22): Show c.41+37589_41+37590insATTTT		COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13						chr2	TogoVar
COBLL1_chr2_164675188_164846823	164803582	T T	TAAATA TAAATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03710.hp1 NA18946.hp2 others(3): Show HG00735.hp2 HG03710.hp1 NA18946.hp2 NA18963.hp2 NA18970.hp2 NA19079.hp2	a0001 a0005 a0020 a0001 a0005 a0020	a0001c0002 a0005c0006 a0005c0029 others(1): Show a0001c0002 a0005c0006 a0005c0029 a0020c0028	a0001c0002t0001 a0005c0006t0001 a0005c0029t0016 others(1): Show a0001c0002t0001 a0005c0006t0001 a0005c0029t0016 a0020c0028t0016	a0001c0002t0001g0202 a0005c0006t0001g0002 a0005c0006t0001g0204 others(2): Show a0001c0002t0001g0202 a0005c0006t0001g0002 a0005c0006t0001g0204 a0005c0029t0016g0203 a0020c0028t0016g0205	6	212	0.0283	5	c.41+ others(22): Show c.41+37569_41+37573dupTATTT		COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13						chr2	TogoVar
COBLL1_chr2_164675188_164846823	164837691	A A	AAATAT AAATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG00735.hp2 others(55): Show HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01109.hp2 HG01175.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18963.hp2 NA18970.hp2 NA19030.hp2 NA19043.hp2 NA19079.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0008 a0012 a0013 a0020	a0001c0001 a0001c0002 a0001c0010 others(12): Show a0001c0001 a0001c0002 a0001c0010 a0001c0024 a0001c0033 a0002c0003 a0002c0030 a0004c0005 a0004c0032 a0005c0006 a0005c0029 a0008c0011 a0012c0027 a0013c0031 a0020c0028	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(31): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0029 a0001c0001t0038 a0001c0001t0044 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0057 a0001c0002t0058 a0001c0002t0060 a0001c0010t0048 a0001c0024t0028 a0001c0033t0008 a0002c0003t0003 a0002c0003t0054 a0002c0030t0022 a0004c0005t0009 a0004c0005t0015 a0004c0032t0001 a0005c0006t0001 a0005c0029t0016 a0008c0011t0025 a0012c0027t0010 a0013c0031t0022 a0020c0028t0016	a0001c0001t0002g0074 a0001c0001t0005g0193 a0001c0001t0005g0194 others(54): Show a0001c0001t0002g0074 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0011g0195 a0001c0001t0011g0196 a0001c0001t0017g0206 a0001c0001t0017g0208 a0001c0001t0018g0167 a0001c0001t0018g0168 a0001c0001t0027g0188 a0001c0001t0029g0179 a0001c0001t0038g0207 a0001c0001t0044g0173 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0202 a0001c0002t0002g0165 a0001c0002t0002g0174 a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0186 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0008g0175 a0001c0002t0008g0176 a0001c0002t0008g0177 a0001c0002t0010g0178 a0001c0002t0011g0187 a0001c0002t0011g0201 a0001c0002t0013g0182 a0001c0002t0057g0183 a0001c0002t0058g0164 a0001c0002t0060g0162 a0001c0010t0048g0185 a0001c0024t0028g0192 a0001c0033t0008g0180 a0002c0003t0003g0073 a0002c0003t0003g0075 a0002c0003t0003g0076 a0002c0003t0003g0077 a0002c0003t0054g0169 a0002c0030t0022g0172 a0004c0005t0009g0197 a0004c0005t0009g0198 a0004c0005t0009g0199 a0004c0005t0009g0200 a0004c0005t0015g0184 a0004c0032t0001g0163 a0005c0006t0001g0002 a0005c0006t0001g0204 a0005c0029t0016g0203 a0008c0011t0025g0011 a0008c0011t0025g0012 a0012c0027t0010g0166 a0013c0031t0022g0181 a0020c0028t0016g0205	58	212	0.2736	5	c.41+ others(20): Show c.41+3464_41+3465insATATT		COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13						chr2	TogoVar
COBL_chr7_51011212_51321809	51018891	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp2 NA18906.hp1 others(6): Show HG01517.hp1 HG01517.hp2 NA18906.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18980.hp1 NA18988.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0001c0007 a0001c0009 others(3): Show a0001c0005 a0001c0007 a0001c0009 a0002c0002 a0002c0015 a0003c0001	a0001c0005t0001 a0001c0007t0001 a0001c0009t0001 others(3): Show a0001c0005t0001 a0001c0007t0001 a0001c0009t0001 a0002c0002t0002 a0002c0015t0006 a0003c0001t0001	a0001c0005t0001g0085 a0001c0007t0001g0174 a0001c0009t0001g0017 others(6): Show a0001c0005t0001g0085 a0001c0007t0001g0174 a0001c0009t0001g0017 a0002c0002t0002g0159 a0002c0015t0006g0022 a0003c0001t0001g0018 a0003c0001t0001g0199 a0003c0001t0001g0210 a0003c0001t0001g0220	9	230	0.0391	5	c.376 others(24): Show c.3769-1328_3769-1324dupTTTTT		COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12						chr7	TogoVar
COBL_chr7_51011212_51321809	51018905	A A	AAAAAT AAAAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01081.hp1 others(4): Show HG00639.hp2 HG01074.hp1 HG01081.hp1 HG02004.hp2 HG02145.hp2 HG03130.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0007 others(1): Show a0001c0003 a0001c0006 a0001c0007 a0001c0052	a0001c0003t0001 a0001c0006t0002 a0001c0007t0001 others(1): Show a0001c0003t0001 a0001c0006t0002 a0001c0007t0001 a0001c0052t0001	a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0100 others(4): Show a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0100 a0001c0006t0002g0040 a0001c0007t0001g0176 a0001c0007t0001g0177 a0001c0052t0001g0072	7	230	0.0304	5	c.376 others(24): Show c.3769-1338_3769-1337insATTTT		COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12						chr7	TogoVar
COBL_chr7_51011212_51321809	51080911	T T	TGAAAA TGAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(181): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0025	a0001c0003 a0001c0005 a0001c0006 others(57): Show a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0018 a0001c0019 a0001c0020 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0032 a0001c0033 a0001c0034 a0001c0037 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0052 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0002c0002 a0002c0004 a0002c0015 a0003c0001 a0003c0013 a0003c0016 a0003c0031 a0003c0056 a0004c0012 a0004c0058 a0005c0011 a0006c0023 a0007c0021 a0007c0024 a0008c0014 a0009c0017 a0010c0022 a0011c0045 a0012c0036 a0013c0041 a0014c0051 a0015c0057 a0016c0061 a0017c0054 a0018c0044 a0019c0059 a0020c0043 a0021c0067 a0025c0042	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(84): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001 a0001c0005t0003 a0001c0006t0002 a0001c0006t0003 a0001c0007t0001 a0001c0008t0002 a0001c0008t0004 a0001c0009t0001 a0001c0009t0002 a0001c0009t0005 a0001c0010t0001 a0001c0010t0002 a0001c0010t0005 a0001c0010t0007 a0001c0010t0012 a0001c0018t0001 a0001c0018t0003 a0001c0019t0001 a0001c0019t0002 a0001c0020t0001 a0001c0020t0003 a0001c0025t0002 a0001c0026t0001 a0001c0027t0009 a0001c0028t0001 a0001c0029t0003 a0001c0030t0001 a0001c0030t0005 a0001c0032t0004 a0001c0033t0001 a0001c0034t0005 a0001c0037t0001 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0002 a0001c0052t0001 a0001c0062t0004 a0001c0063t0001 a0001c0064t0011 a0001c0065t0001 a0001c0066t0003 a0002c0002t0002 a0002c0004t0001 a0002c0004t0003 a0002c0004t0006 a0002c0004t0007 a0002c0015t0001 a0002c0015t0006 a0002c0015t0014 a0003c0001t0001 a0003c0001t0002 a0003c0001t0005 a0003c0001t0013 a0003c0013t0001 a0003c0013t0002 a0003c0016t0001 a0003c0031t0001 a0003c0056t0002 a0004c0012t0003 a0004c0012t0008 a0004c0012t0015 a0004c0058t0003 a0005c0011t0001 a0006c0023t0002 a0007c0021t0001 a0007c0024t0001 a0007c0024t0016 a0008c0014t0003 a0009c0017t0001 a0010c0022t0001 a0011c0045t0003 a0012c0036t0003 a0013c0041t0002 a0014c0051t0002 a0015c0057t0003 a0016c0061t0001 a0017c0054t0004 a0018c0044t0010 a0019c0059t0001 a0020c0043t0001 a0021c0067t0001 a0025c0042t0001	a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0004 others(181): Show a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0004 a0001c0003t0001g0008 a0001c0003t0001g0023 a0001c0003t0001g0047 a0001c0003t0001g0067 a0001c0003t0001g0083 a0001c0003t0001g0088 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0098 a0001c0003t0001g0100 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0124 a0001c0003t0001g0157 a0001c0003t0001g0190 a0001c0003t0001g0192 a0001c0003t0002g0226 a0001c0003t0003g0093 a0001c0003t0003g0094 a0001c0003t0003g0097 a0001c0005t0001g0084 a0001c0005t0001g0085 a0001c0005t0003g0087 a0001c0005t0003g0101 a0001c0005t0003g0117 a0001c0005t0003g0161 a0001c0005t0003g0204 a0001c0006t0002g0040 a0001c0006t0003g0035 a0001c0006t0003g0036 a0001c0006t0003g0038 a0001c0006t0003g0050 a0001c0006t0003g0121 a0001c0006t0003g0184 a0001c0006t0003g0196 a0001c0007t0001g0107 a0001c0007t0001g0172 a0001c0007t0001g0174 a0001c0007t0001g0176 a0001c0007t0001g0177 a0001c0007t0001g0178 a0001c0007t0001g0179 a0001c0008t0002g0163 a0001c0008t0004g0102 a0001c0008t0004g0103 a0001c0008t0004g0104 a0001c0008t0004g0105 a0001c0008t0004g0106 a0001c0008t0004g0108 a0001c0009t0001g0005 a0001c0009t0001g0014 a0001c0009t0001g0017 a0001c0009t0001g0055 a0001c0009t0002g0057 a0001c0009t0002g0074 a0001c0009t0005g0222 a0001c0010t0001g0089 a0001c0010t0002g0073 a0001c0010t0005g0164 a0001c0010t0007g0011 a0001c0010t0012g0115 a0001c0018t0001g0185 a0001c0018t0003g0144 a0001c0018t0003g0171 a0001c0019t0001g0031 a0001c0019t0001g0032 a0001c0019t0002g0120 a0001c0020t0001g0168 a0001c0020t0003g0033 a0001c0020t0003g0223 a0001c0025t0002g0015 a0001c0025t0002g0096 a0001c0026t0001g0209 a0001c0026t0001g0211 a0001c0027t0009g0075 a0001c0027t0009g0165 a0001c0028t0001g0007 a0001c0028t0001g0128 a0001c0029t0003g0053 a0001c0029t0003g0170 a0001c0030t0001g0114 a0001c0030t0005g0052 a0001c0032t0004g0065 a0001c0033t0001g0064 a0001c0034t0005g0182 a0001c0037t0001g0175 a0001c0046t0001g0048 a0001c0047t0001g0217 a0001c0048t0001g0086 a0001c0049t0001g0046 a0001c0050t0002g0116 a0001c0052t0001g0072 a0001c0062t0004g0006 a0001c0063t0001g0020 a0001c0064t0011g0062 a0001c0065t0001g0059 a0001c0066t0003g0051 a0002c0002t0002g0027 a0002c0002t0002g0071 a0002c0002t0002g0122 a0002c0004t0001g0078 a0002c0004t0001g0119 a0002c0004t0001g0183 a0002c0004t0001g0193 a0002c0004t0001g0195 a0002c0004t0001g0197 a0002c0004t0001g0219 a0002c0004t0001g0225 a0002c0004t0003g0227 a0002c0004t0006g0003 a0002c0004t0006g0081 a0002c0004t0006g0109 a0002c0004t0007g0016 a0002c0004t0007g0045 a0002c0015t0001g0181 a0002c0015t0006g0022 a0002c0015t0014g0013 a0003c0001t0001g0009 a0003c0001t0001g0018 a0003c0001t0001g0025 a0003c0001t0001g0029 a0003c0001t0001g0030 a0003c0001t0001g0034 a0003c0001t0001g0113 a0003c0001t0001g0118 a0003c0001t0001g0123 a0003c0001t0001g0199 a0003c0001t0001g0202 a0003c0001t0001g0203 a0003c0001t0001g0210 a0003c0001t0001g0215 a0003c0001t0001g0216 a0003c0001t0001g0220 a0003c0001t0002g0054 a0003c0001t0002g0070 a0003c0001t0005g0043 a0003c0001t0005g0044 a0003c0001t0005g0099 a0003c0001t0013g0186 a0003c0013t0001g0012 a0003c0013t0001g0049 a0003c0013t0001g0068 a0003c0013t0002g0069 a0003c0016t0001g0076 a0003c0016t0001g0077 a0003c0016t0001g0079 a0003c0016t0001g0080 a0003c0031t0001g0066 a0003c0056t0002g0058 a0004c0012t0003g0200 a0004c0012t0003g0207 a0004c0012t0003g0221 a0004c0012t0008g0110 a0004c0012t0015g0230 a0004c0058t0003g0021 a0005c0011t0001g0188 a0005c0011t0001g0189 a0005c0011t0001g0194 a0005c0011t0001g0206 a0005c0011t0001g0208 a0006c0023t0002g0212 a0007c0021t0001g0063 a0007c0021t0001g0127 a0007c0024t0001g0042 a0007c0024t0016g0229 a0008c0014t0003g0162 a0009c0017t0001g0151 a0010c0022t0001g0125 a0010c0022t0001g0126 a0011c0045t0003g0026 a0012c0036t0003g0090 a0013c0041t0002g0140 a0014c0051t0002g0028 a0015c0057t0003g0060 a0016c0061t0001g0024 a0017c0054t0004g0180 a0018c0044t0010g0041 a0019c0059t0001g0039 a0020c0043t0001g0201 a0021c0067t0001g0198 a0025c0042t0001g0166	184	230	0.8000	5	c.109 others(24): Show c.1096+4250_1096+4254dupTTTTC		COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12						chr7	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01258.hp2 HG01261.hp2 others(6): Show HG00099.hp1 HG01258.hp2 HG01261.hp2 HG01517.hp1 HG02055.hp1 HG02630.hp2 HG02723.hp2 HG02922.hp2 HG03453.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0017	a0001c0003 a0002c0004 a0002c0015 others(3): Show a0001c0003 a0002c0004 a0002c0015 a0003c0001 a0003c0013 a0017c0054	a0001c0003t0001 a0002c0004t0001 a0002c0015t0001 others(3): Show a0001c0003t0001 a0002c0004t0001 a0002c0015t0001 a0003c0001t0001 a0003c0013t0001 a0017c0054t0004	a0001c0003t0001g0001 a0001c0003t0001g0002 a0002c0004t0001g0010 others(6): Show a0001c0003t0001g0001 a0001c0003t0001g0002 a0002c0004t0001g0010 a0002c0015t0001g0181 a0003c0001t0001g0025 a0003c0001t0001g0113 a0003c0001t0001g0210 a0003c0013t0001g0049 a0017c0054t0004g0180	9	230	0.0391	5	c.958 others(24): Show c.958-12925_958-12921dupAAAAA		COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12						chr7	TogoVar
COBL_chr7_51011212_51321809	51217340	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01261.hp2 HG01433.hp2 others(7): Show HG00099.hp1 HG01261.hp2 HG01433.hp2 HG02257.hp1 HG02723.hp1 HG02886.hp2 HG03098.hp2 HG03654.hp1 NA19043.hp1 NA20129.hp2	a0001 a0003 a0025 a0001 a0003 a0025	a0001c0003 a0001c0005 a0001c0008 others(4): Show a0001c0003 a0001c0005 a0001c0008 a0001c0010 a0001c0027 a0003c0001 a0025c0042	a0001c0003t0001 a0001c0005t0008 a0001c0008t0002 others(5): Show a0001c0003t0001 a0001c0005t0008 a0001c0008t0002 a0001c0010t0005 a0001c0010t0012 a0001c0027t0009 a0003c0001t0001 a0025c0042t0001	a0001c0003t0001g0067 a0001c0005t0008g0167 a0001c0008t0002g0163 others(7): Show a0001c0003t0001g0067 a0001c0005t0008g0167 a0001c0008t0002g0163 a0001c0010t0005g0164 a0001c0010t0012g0115 a0001c0027t0009g0165 a0003c0001t0001g0009 a0003c0001t0001g0025 a0003c0001t0001g0113 a0025c0042t0001g0166	10	230	0.0435	5	c.245 others(22): Show c.245+2396_245+2400dupAAAAA		COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	2/12						chr7	TogoVar
COBL_chr7_51011212_51321809	51300140	C C	CTGTTT CTGTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03654.hp1 NA18982.hp2 others(4): Show HG02074.hp1 HG03654.hp1 NA18982.hp2 NA18983.hp2 NA19085.hp2 NA19087.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0001c0009 a0001c0019 others(4): Show a0001c0006 a0001c0009 a0001c0019 a0001c0062 a0002c0002 a0003c0001 a0003c0013	a0001c0006t0003 a0001c0009t0002 a0001c0019t0002 others(4): Show a0001c0006t0003 a0001c0009t0002 a0001c0019t0002 a0001c0062t0004 a0002c0002t0002 a0003c0001t0001 a0003c0013t0001	a0001c0006t0003g0050 a0001c0009t0002g0057 a0001c0019t0002g0120 others(4): Show a0001c0006t0003g0050 a0001c0009t0002g0057 a0001c0019t0002g0120 a0001c0062t0004g0006 a0002c0002t0002g0071 a0003c0001t0001g0009 a0003c0013t0001g0056	7	230	0.0304	5	c.41+ others(22): Show c.41+16448_41+16452dupAAACA		COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12						chr7	TogoVar
COG2_chr1_230637481_230698982	230640907	A A	AAAAAT AAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 NA18988.hp1 NA19006.hp2 others(2): Show HG01934.hp1 NA18988.hp1 NA19006.hp2 NA19030.hp1 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0003 a0001c0001 a0002c0004 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0002c0004t0001 others(1): Show a0001c0001t0003 a0001c0001t0004 a0002c0004t0001 a0003c0003t0005	a0001c0001t0003g0240 a0001c0001t0004g0040 a0001c0001t0004g0153 others(2): Show a0001c0001t0003g0240 a0001c0001t0004g0040 a0001c0001t0004g0153 a0002c0004t0001g0038 a0003c0003t0005g0266	5	406	0.0123	5	c.-17 others(16): Show c.-1700_-1699insAAAAT		COG2	ENSG00000135775.14	transcript	ENST00000366669.9	protein_coding					1573		chr1	TogoVar
COG2_chr1_230637481_230698982	230685017	C C	CACATT CACATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(58): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03654.hp2 HG03704.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18906.hp1 NA18942.hp2 NA18944.hp2 NA18957.hp2 NA18960.hp1 NA18972.hp2 NA18975.hp2 NA18981.hp2 NA18989.hp2 NA19004.hp2 NA19056.hp1 NA19064.hp1 NA19068.hp1 NA19076.hp1 NA19079.hp2 NA19081.hp1 NA19090.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0003c0012 a0010c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0002c0002t0001 a0003c0003t0001 a0003c0012t0001 a0010c0022t0001	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0025 others(44): Show a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0171 a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0304 a0001c0001t0002g0043 a0001c0001t0002g0136 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0216 a0001c0001t0002g0250 a0001c0001t0010g0221 a0002c0002t0001g0095 a0002c0002t0001g0105 a0003c0003t0001g0051 a0003c0003t0001g0178 a0003c0003t0001g0257 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0012t0001g0258 a0010c0022t0001g0297	61	406	0.1503	5	c.122 others(20): Show c.1229-66_1229-62dupCATTA		COG2	ENSG00000135775.14	transcript	ENST00000366669.9	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
COG3_chr13_45459939_45541701	45467597	A A	AAAAAG AAAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01074.hp2 others(34): Show HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01192.hp1 HG01361.hp2 HG01496.hp2 HG01934.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03831.hp1 HG06807.hp1 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0005 others(1): Show a0001c0002 a0002c0003 a0002c0005 a0002c0007	a0001c0002t0001 a0002c0003t0002 a0002c0005t0012 others(2): Show a0001c0002t0001 a0002c0003t0002 a0002c0005t0012 a0002c0005t0014 a0002c0007t0002	a0001c0002t0001g0229 a0001c0002t0001g0230 a0002c0003t0002g0007 others(33): Show a0001c0002t0001g0229 a0001c0002t0001g0230 a0002c0003t0002g0007 a0002c0003t0002g0202 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0216 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0231 a0002c0003t0002g0233 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0236 a0002c0003t0002g0237 a0002c0003t0002g0238 a0002c0003t0002g0240 a0002c0005t0012g0148 a0002c0005t0014g0206 a0002c0007t0002g0223 a0002c0007t0002g0224 a0002c0007t0002g0225 a0002c0007t0002g0226 a0002c0007t0002g0227 a0002c0007t0002g0228 a0002c0007t0002g0232	37	342	0.1082	5	c.174 others(22): Show c.174+2389_174+2390insAAGAA		COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45486338	A A	AGGGAG AGGGAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG00741.hp2 others(6): Show HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01433.hp2 HG02451.hp2 NA18992.hp2 NA18995.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0001 a0001c0002t0007	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0056 others(6): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0002t0001g0146 a0001c0002t0001g0304 a0001c0002t0007g0305	9	342	0.0263	5	c.844 others(20): Show c.844-157_844-156insGGGAG		COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22						chr13	TogoVar
COG3_chr13_45459939_45541701	45486339	C C	CGGAGA CGGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG01361.hp1 others(13): Show HG00642.hp2 HG01074.hp1 HG01361.hp1 HG01928.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02145.hp2 HG02698.hp2 HG03516.hp2 NA18966.hp2 NA18973.hp1 NA18986.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0241 a0001c0002t0001g0256 a0001c0002t0001g0262 others(13): Show a0001c0002t0001g0241 a0001c0002t0001g0256 a0001c0002t0001g0262 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0306 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0316 a0001c0002t0001g0323 a0002c0005t0001g0313	16	342	0.0468	5	c.844 others(20): Show c.844-154_844-153insAGAGG		COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45489262	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(35): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG01070.hp2 HG01109.hp1 HG01496.hp1 HG01891.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02132.hp1 HG02280.hp1 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02717.hp2 HG02976.hp2 HG03491.hp1 HG03492.hp1 NA18612.hp1 NA18939.hp2 NA18945.hp2 NA18955.hp1 NA18962.hp2 NA18991.hp2 NA18994.hp1 NA19002.hp2 NA19011.hp2 NA19066.hp2 NA19077.hp1 NA19082.hp1 NA19085.hp2 NA19089.hp2 NA20129.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0005 a0002c0003t0002g0006 a0002c0003t0002g0144 others(33): Show a0002c0003t0002g0005 a0002c0003t0002g0006 a0002c0003t0002g0144 a0002c0003t0002g0160 a0002c0003t0002g0161 a0002c0003t0002g0162 a0002c0003t0002g0163 a0002c0003t0002g0164 a0002c0003t0002g0165 a0002c0003t0002g0167 a0002c0003t0002g0168 a0002c0003t0002g0169 a0002c0003t0002g0170 a0002c0003t0002g0171 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0174 a0002c0003t0002g0175 a0002c0003t0002g0176 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0181 a0002c0003t0002g0182 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0190 a0002c0003t0002g0191 a0002c0003t0002g0207 a0002c0003t0002g0215 a0002c0003t0002g0219	38	342	0.1111	5	c.925 others(22): Show c.925-1639_925-1635dupAAAAA		COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	8/22					INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45508068	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp2 HG02965.hp2 others(6): Show HG01106.hp1 HG01167.hp2 HG02965.hp2 HG03098.hp1 HG03942.hp1 HG04204.hp2 NA18973.hp2 NA19003.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0014 a0002c0005 others(1): Show a0001c0001 a0001c0014 a0002c0005 a0003c0006	a0001c0001t0001 a0001c0014t0001 a0002c0005t0003 others(1): Show a0001c0001t0001 a0001c0014t0001 a0002c0005t0003 a0003c0006t0004	a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0094 others(6): Show a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0131 a0001c0001t0001g0239 a0001c0014t0001g0261 a0002c0005t0003g0155 a0003c0006t0004g0198	9	342	0.0263	5	c.159 others(24): Show c.1595-1597_1595-1593dupAAAAA		COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	14/22					INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45526076	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00558.hp2 others(75): Show HG00099.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01433.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18943.hp1 NA18943.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18994.hp2 NA18998.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19067.hp1 NA19084.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0001c0011 a0006c0019 a0007c0018 a0008c0020	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0009 a0001c0008t0001 a0001c0011t0001 a0006c0019t0001 a0007c0018t0001 a0008c0020t0006	a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0052 others(75): Show a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0008g0051 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0203 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0254 a0001c0002t0001g0257 a0001c0002t0001g0259 a0001c0002t0001g0262 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0289 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0301 a0001c0002t0001g0304 a0001c0002t0001g0306 a0001c0002t0001g0310 a0001c0002t0001g0312 a0001c0002t0001g0315 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0320 a0001c0002t0001g0326 a0001c0002t0009g0279 a0001c0008t0001g0042 a0001c0008t0001g0121 a0001c0011t0001g0246 a0006c0019t0001g0070 a0007c0018t0001g0309 a0008c0020t0006g0064	78	342	0.2281	5	c.223 others(24): Show c.2230+1051_2230+1055dupTTTTT		COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr13	TogoVar
COG4_chr16_70475571_70528554	70506593	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00735.hp1 others(9): Show HG00597.hp1 HG00621.hp1 HG00735.hp1 HG02040.hp2 HG03098.hp1 HG03942.hp1 NA18940.hp1 NA18942.hp1 NA19005.hp1 NA19077.hp1 NA19081.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 a0001c0005t0001 a0001c0015t0001	a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0059 others(9): Show a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0255 a0001c0001t0002g0099 a0001c0002t0002g0186 a0001c0003t0002g0164 a0001c0005t0001g0254 a0001c0015t0001g0097	12	354	0.0339	5	c.106 others(24): Show c.1061+1808_1061+1812dupTTTTT		COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	8/18						chr16	TogoVar
COG6_chr13_39650662_39757628	39651677	C C	CTTTTT CTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02280.hp1 others(3): Show HG01891.hp2 HG02109.hp2 HG02280.hp1 HG02896.hp1 HG03486.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0003 a0001c0001t0005g0009 a0001c0001t0005g0010 others(2): Show a0001c0001t0003g0003 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0204 a0001c0001t0005g0205	6	370	0.0162	5	c.-40 others(16): Show c.-4050_-4049insTTTTT		COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding					3984		chr13	TogoVar
COG7_chr16_23383493_23458189	23449380	T T	TTAAAA TTAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG00741.hp1 others(21): Show HG00438.hp2 HG00639.hp2 HG00741.hp1 HG01081.hp2 HG01175.hp2 HG02004.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp1 HG04199.hp2 NA18522.hp1 NA18952.hp2 NA18971.hp1 NA18992.hp1 NA18993.hp1 NA19060.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0008 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0002c0002t0003 a0003c0008t0001 a0006c0012t0007	a0001c0001t0001g0015 a0001c0001t0001g0238 a0001c0001t0001g0240 others(21): Show a0001c0001t0001g0015 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0003t0003g0133 a0001c0003t0003g0134 a0002c0002t0003g0099 a0002c0002t0003g0100 a0002c0002t0003g0101 a0002c0002t0003g0102 a0002c0002t0003g0103 a0002c0002t0003g0104 a0002c0002t0003g0105 a0003c0008t0001g0239 a0006c0012t0007g0016	24	272	0.0882	5	c.170 others(22): Show c.170-3424_170-3420dupTTTTA		COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	1/16						chr16	TogoVar
COG8_chr16_69321428_69344564	69323943	C C	CAAAAA CAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02723.hp2 HG02976.hp2 others(2): Show HG02486.hp1 HG02723.hp2 HG02976.hp2 HG03486.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0010 a0001c0002t0017 a0001c0001t0006 a0001c0001t0010 a0001c0002t0017	a0001c0001t0006g0030 a0001c0001t0010g0018 a0001c0002t0017g0119 a0001c0001t0006g0030 a0001c0001t0010g0018 a0001c0002t0017g0119	5	360	0.0139	5	c.52 others(16): Show c.5262_*5263insTTTTT		COG8	ENSG00000213380.16	transcript	ENST00000306875.10	protein_coding					2484		chr16	TogoVar
COL11A1_chr1_102871473_103113522	102967227	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG01243.hp2 others(20): Show HG00408.hp1 HG00639.hp1 HG01243.hp2 HG01433.hp1 HG01517.hp1 HG01943.hp2 HG01978.hp2 HG02300.hp1 HG02683.hp2 HG02976.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03834.hp2 HG04228.hp1 NA18906.hp1 NA18966.hp1 NA18977.hp2 NA18984.hp1 NA19043.hp2 NA19063.hp1 NA19090.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0015 a0020 a0021	a0001c0004 a0001c0005 a0001c0009 others(7): Show a0001c0004 a0001c0005 a0001c0009 a0002c0001 a0003c0003 a0004c0013 a0004c0021 a0015c0020 a0020c0035 a0021c0029	a0001c0004t0004 a0001c0005t0004 a0001c0009t0007 others(7): Show a0001c0004t0004 a0001c0005t0004 a0001c0009t0007 a0002c0001t0001 a0003c0003t0002 a0004c0013t0001 a0004c0021t0008 a0015c0020t0001 a0020c0035t0001 a0021c0029t0004	a0001c0004t0004g0018 a0001c0005t0004g0015 a0001c0009t0007g0055 others(20): Show a0001c0004t0004g0018 a0001c0005t0004g0015 a0001c0009t0007g0055 a0002c0001t0001g0130 a0002c0001t0001g0134 a0002c0001t0001g0140 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0148 a0002c0001t0001g0156 a0002c0001t0001g0162 a0003c0003t0002g0120 a0003c0003t0002g0123 a0003c0003t0002g0124 a0003c0003t0002g0133 a0003c0003t0002g0138 a0003c0003t0002g0141 a0004c0013t0001g0106 a0004c0021t0008g0081 a0015c0020t0001g0178 a0020c0035t0001g0166 a0021c0029t0004g0043	23	184	0.1250	5	c.286 others(24): Show c.2863-1692_2863-1688dupAAAAA		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	37/66						chr1	TogoVar
COL11A1_chr1_102871473_103113522	102971026	C C	CAAACA CAAACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(79): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01243.hp2 HG01256.hp2 HG01358.hp1 HG01433.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp1 NA18939.hp2 NA18942.hp1 NA18952.hp2 NA18955.hp1 NA18966.hp1 NA18977.hp2 NA18984.hp2 NA18985.hp2 NA18998.hp1 NA19057.hp2 NA19063.hp1 NA19075.hp1 NA19082.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0009 a0010 a0011 a0014 a0016 a0017 a0020 a0022	a0001c0002 a0001c0016 a0001c0031 others(12): Show a0001c0002 a0001c0016 a0001c0031 a0002c0001 a0003c0003 a0003c0011 a0003c0032 a0009c0036 a0010c0022 a0011c0030 a0014c0038 a0016c0037 a0017c0039 a0020c0035 a0022c0034	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(17): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0016t0001 a0001c0031t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0009 a0003c0003t0002 a0003c0011t0001 a0003c0032t0002 a0009c0036t0001 a0010c0022t0002 a0011c0030t0002 a0014c0038t0001 a0016c0037t0001 a0017c0039t0002 a0020c0035t0001 a0022c0034t0001	a0001c0002t0001g0069 a0001c0002t0002g0155 a0001c0002t0003g0019 others(79): Show a0001c0002t0001g0069 a0001c0002t0002g0155 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0048 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0104 a0001c0002t0011g0091 a0001c0016t0001g0050 a0001c0016t0001g0102 a0001c0031t0001g0172 a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0125 a0002c0001t0001g0126 a0002c0001t0001g0128 a0002c0001t0001g0130 a0002c0001t0001g0131 a0002c0001t0001g0132 a0002c0001t0001g0134 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0156 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0181 a0002c0001t0002g0136 a0002c0001t0009g0146 a0003c0003t0002g0030 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0123 a0003c0003t0002g0124 a0003c0003t0002g0133 a0003c0003t0002g0135 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0141 a0003c0003t0002g0157 a0003c0003t0002g0165 a0003c0011t0001g0044 a0003c0011t0001g0060 a0003c0011t0001g0105 a0003c0011t0001g0161 a0003c0032t0002g0160 a0009c0036t0001g0118 a0010c0022t0002g0007 a0011c0030t0002g0158 a0014c0038t0001g0182 a0016c0037t0001g0103 a0017c0039t0002g0127 a0020c0035t0001g0166 a0022c0034t0001g0129	82	184	0.4457	5	c.280 others(22): Show c.2809-755_2809-754insTGTTT		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	36/66						chr1	TogoVar
COL11A1_chr1_102871473_103113522	102976289	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00735.hp1 others(27): Show HG00140.hp1 HG00323.hp1 HG00735.hp1 HG00738.hp1 HG01099.hp1 HG01517.hp1 HG02622.hp1 HG02683.hp2 HG02809.hp1 HG03239.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp1 NA18939.hp2 NA18942.hp1 NA18955.hp1 NA18966.hp1 NA18977.hp2 NA18984.hp2 NA18985.hp2 NA18998.hp1 NA19057.hp2 NA19063.hp1 NA19075.hp1 NA19082.hp2 NA19090.hp2 NA20752.hp2 NA20805.hp1	a0002 a0003 a0009 others(5): Show a0002 a0003 a0009 a0010 a0011 a0017 a0020 a0022	a0002c0001 a0003c0003 a0009c0036 others(5): Show a0002c0001 a0003c0003 a0009c0036 a0010c0022 a0011c0030 a0017c0039 a0020c0035 a0022c0034	a0002c0001t0001 a0003c0003t0002 a0009c0036t0001 others(5): Show a0002c0001t0001 a0003c0003t0002 a0009c0036t0001 a0010c0022t0002 a0011c0030t0002 a0017c0039t0002 a0020c0035t0001 a0022c0034t0001	a0002c0001t0001g0116 a0002c0001t0001g0121 a0002c0001t0001g0122 others(27): Show a0002c0001t0001g0116 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0125 a0002c0001t0001g0126 a0002c0001t0001g0131 a0002c0001t0001g0132 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0147 a0002c0001t0001g0150 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0156 a0002c0001t0001g0167 a0002c0001t0001g0169 a0003c0003t0002g0124 a0003c0003t0002g0133 a0003c0003t0002g0135 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0157 a0003c0003t0002g0165 a0009c0036t0001g0118 a0010c0022t0002g0007 a0011c0030t0002g0158 a0017c0039t0002g0127 a0020c0035t0001g0166 a0022c0034t0001g0129	30	184	0.1630	5	c.275 others(24): Show c.2755-1411_2755-1407dupAAAAA		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	35/66						chr1	TogoVar
COL11A1_chr1_102871473_103113522	103006526	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01358.hp1 HG02055.hp1 others(7): Show HG01109.hp2 HG01358.hp1 HG02055.hp1 HG02809.hp1 HG02896.hp1 HG03041.hp1 HG03139.hp2 HG03239.hp1 HG03579.hp1 NA18985.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0002c0001 a0003c0003 others(1): Show a0001c0006 a0002c0001 a0003c0003 a0003c0011	a0001c0006t0010 a0002c0001t0001 a0003c0003t0002 others(1): Show a0001c0006t0010 a0002c0001t0001 a0003c0003t0002 a0003c0011t0001	a0001c0006t0010g0180 a0002c0001t0001g0116 a0002c0001t0001g0117 others(7): Show a0001c0006t0010g0180 a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0121 a0002c0001t0001g0128 a0002c0001t0001g0169 a0002c0001t0001g0181 a0003c0003t0002g0087 a0003c0003t0002g0119 a0003c0011t0001g0044	10	184	0.0544	5	c.168 others(22): Show c.1684-216_1684-212dupAAAAA		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	15/66						chr1	TogoVar
COL11A1_chr1_102871473_103113522	103022013	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00735.hp2 others(11): Show HG00408.hp2 HG00621.hp1 HG00735.hp2 HG02027.hp1 HG03704.hp2 HG03927.hp2 NA18942.hp2 NA18952.hp1 NA18955.hp2 NA18966.hp2 NA18977.hp1 NA18985.hp1 NA18998.hp2 NA19075.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0018 a0019	a0001c0005 a0002c0024 a0003c0023 others(3): Show a0001c0005 a0002c0024 a0003c0023 a0007c0015 a0018c0027 a0019c0025	a0001c0005t0005 a0001c0005t0012 a0002c0024t0002 others(4): Show a0001c0005t0005 a0001c0005t0012 a0002c0024t0002 a0003c0023t0002 a0007c0015t0005 a0018c0027t0005 a0019c0025t0005	a0001c0005t0005g0070 a0001c0005t0005g0071 a0001c0005t0005g0072 others(11): Show a0001c0005t0005g0070 a0001c0005t0005g0071 a0001c0005t0005g0072 a0001c0005t0005g0074 a0001c0005t0005g0078 a0001c0005t0005g0080 a0001c0005t0012g0077 a0002c0024t0002g0075 a0003c0023t0002g0079 a0007c0015t0005g0112 a0007c0015t0005g0113 a0007c0015t0005g0114 a0018c0027t0005g0076 a0019c0025t0005g0073	14	184	0.0761	5	c.124 others(22): Show c.1246-249_1246-245dupAAAAA		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	8/66						chr1	TogoVar
COL11A1_chr1_102871473_103113522	103023370	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02257.hp2 others(4): Show HG01109.hp1 HG01884.hp2 HG02257.hp2 HG02451.hp2 HG02622.hp2 HG02818.hp2 HG03098.hp2	a0004 a0005 a0004 a0005	a0004c0012 a0005c0010 a0004c0012 a0005c0010	a0004c0012t0003 a0005c0010t0001 a0004c0012t0003 a0005c0010t0001	a0004c0012t0003g0010 a0004c0012t0003g0011 a0004c0012t0003g0012 others(4): Show a0004c0012t0003g0010 a0004c0012t0003g0011 a0004c0012t0003g0012 a0005c0010t0001g0028 a0005c0010t0001g0029 a0005c0010t0001g0052 a0005c0010t0001g0053	7	184	0.0380	5	c.991 others(20): Show c.991-379_991-375dupAAAAA		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	7/66						chr1	TogoVar
COL11A1_chr1_102871473_103113522	103028022	T T	TTTTTG TTTTTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02257.hp2 others(15): Show HG01109.hp1 HG01884.hp2 HG02257.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0013	a0001c0008 a0001c0009 a0003c0026 others(3): Show a0001c0008 a0001c0009 a0003c0026 a0004c0012 a0005c0010 a0013c0028	a0001c0008t0006 a0001c0009t0001 a0001c0009t0007 others(4): Show a0001c0008t0006 a0001c0009t0001 a0001c0009t0007 a0003c0026t0002 a0004c0012t0003 a0005c0010t0001 a0013c0028t0006	a0001c0008t0006g0002 a0001c0008t0006g0003 a0001c0008t0006g0004 others(15): Show a0001c0008t0006g0002 a0001c0008t0006g0003 a0001c0008t0006g0004 a0001c0008t0006g0005 a0001c0008t0006g0006 a0001c0009t0001g0008 a0001c0009t0007g0055 a0001c0009t0007g0056 a0001c0009t0007g0057 a0003c0026t0002g0049 a0004c0012t0003g0010 a0004c0012t0003g0011 a0004c0012t0003g0012 a0005c0010t0001g0028 a0005c0010t0001g0029 a0005c0010t0001g0052 a0005c0010t0001g0053 a0013c0028t0006g0001	18	184	0.0978	5	c.781 others(22): Show c.781-1695_781-1691dupCAAAA		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	5/66						chr1	TogoVar
COL12A1_chr6_75079326_75211053	75140655	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01109.hp1 others(5): Show HG01069.hp1 HG01071.hp1 HG01109.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp1 HG03516.hp1	a0006 a0007 a0010 others(2): Show a0006 a0007 a0010 a0011 a0013	a0006c0007 a0007c0010 a0010c0009 others(2): Show a0006c0007 a0007c0010 a0010c0009 a0011c0011 a0013c0020	a0006c0007t0006 a0007c0010t0005 a0010c0009t0002 others(2): Show a0006c0007t0006 a0007c0010t0005 a0010c0009t0002 a0011c0011t0007 a0013c0020t0007	a0006c0007t0006g0039 a0006c0007t0006g0040 a0007c0010t0005g0045 others(4): Show a0006c0007t0006g0039 a0006c0007t0006g0040 a0007c0010t0005g0045 a0007c0010t0005g0127 a0010c0009t0002g0003 a0011c0011t0007g0042 a0013c0020t0007g0047	8	206	0.0388	5	c.495 others(24): Show c.4957+1372_4957+1376dupTTTTT		COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding	27/65						chr6	TogoVar
COL13A1_chr10_69796906_69964144	69804809	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01109.hp2 others(14): Show HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp1 HG01516.hp2 HG01952.hp2 HG02083.hp1 HG02735.hp1 HG03239.hp1 NA18982.hp2 NA19065.hp2 NA19068.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0003t0001 a0001c0006t0002	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(14): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0006g0063 a0001c0001t0013g0068 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0066 a0001c0006t0002g0059 a0001c0006t0002g0069	17	324	0.0525	5	c.294 others(22): Show c.294+2121_294+2125dupAAAAA		COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120182726	G G	GGTTTT GGTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01261.hp2 HG02145.hp1 others(3): Show HG01106.hp2 HG01261.hp2 HG02145.hp1 HG06807.hp2 NA19030.hp1 NA19066.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0006 a0002c0012 others(1): Show a0001c0001 a0002c0006 a0002c0012 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0002c0006t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0006t0001 a0002c0012t0002 a0004c0009t0002	a0001c0001t0001g0103 a0001c0001t0001g0142 a0001c0001t0002g0091 others(3): Show a0001c0001t0001g0103 a0001c0001t0001g0142 a0001c0001t0002g0091 a0002c0006t0001g0028 a0002c0012t0002g0140 a0004c0009t0002g0079	6	218	0.0275	5	c.437 others(24): Show c.437-14065_437-14064insGTTTT		COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	5/47						chr8	TogoVar
COL14A1_chr8_120120102_120378573	120191486	A A	AGGTGT AGGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02132.hp2 NA18954.hp2 others(1): Show HG00408.hp2 HG02132.hp2 NA18954.hp2 NA18979.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0002 a0003c0004t0001 a0001c0003t0002 a0003c0004t0001	a0001c0003t0002g0168 a0003c0004t0001g0167 a0003c0004t0001g0169 others(1): Show a0001c0003t0002g0168 a0003c0004t0001g0167 a0003c0004t0001g0169 a0003c0004t0001g0170	4	218	0.0184	5	c.437 others(22): Show c.437-5295_437-5291dupTGGTG		COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	5/47					INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120229089	T T	TTTTTA TTTTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(98): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18968.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0008 a0009 a0010 a0012 a0013 a0014	a0001c0001 a0001c0003 a0001c0005 others(19): Show a0001c0001 a0001c0003 a0001c0005 a0001c0014 a0001c0024 a0001c0026 a0001c0027 a0001c0041 a0002c0002 a0002c0006 a0002c0016 a0002c0032 a0002c0036 a0003c0004 a0004c0008 a0004c0009 a0008c0028 a0009c0029 a0010c0023 a0012c0025 a0013c0022 a0014c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0020 a0001c0003t0019 a0001c0005t0001 a0001c0005t0005 a0001c0014t0012 a0001c0024t0003 a0001c0026t0001 a0001c0027t0002 a0001c0041t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0006t0002 a0002c0006t0006 a0002c0016t0003 a0002c0032t0002 a0002c0036t0001 a0003c0004t0001 a0004c0008t0002 a0004c0009t0002 a0004c0009t0007 a0004c0009t0017 a0008c0028t0002 a0009c0029t0001 a0010c0023t0001 a0012c0025t0001 a0013c0022t0001 a0014c0038t0002	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 others(98): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0204 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0002g0053 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0082 a0001c0001t0002g0091 a0001c0001t0002g0111 a0001c0001t0002g0129 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0186 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0215 a0001c0001t0003g0043 a0001c0001t0003g0102 a0001c0001t0003g0149 a0001c0001t0003g0155 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0003g0198 a0001c0001t0005g0022 a0001c0001t0010g0005 a0001c0001t0020g0206 a0001c0003t0019g0076 a0001c0005t0001g0014 a0001c0005t0001g0040 a0001c0005t0001g0041 a0001c0005t0001g0067 a0001c0005t0001g0068 a0001c0005t0001g0203 a0001c0005t0005g0141 a0001c0014t0012g0026 a0001c0024t0003g0104 a0001c0026t0001g0124 a0001c0027t0002g0131 a0001c0041t0001g0048 a0002c0002t0001g0011 a0002c0002t0001g0020 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0156 a0002c0002t0001g0164 a0002c0002t0001g0181 a0002c0002t0002g0051 a0002c0002t0003g0021 a0002c0002t0003g0193 a0002c0006t0002g0033 a0002c0006t0006g0212 a0002c0016t0003g0152 a0002c0032t0002g0059 a0002c0036t0001g0004 a0003c0004t0001g0184 a0003c0004t0001g0185 a0003c0004t0001g0196 a0003c0004t0001g0199 a0004c0008t0002g0077 a0004c0009t0002g0079 a0004c0009t0007g0161 a0004c0009t0017g0002 a0008c0028t0002g0130 a0009c0029t0001g0114 a0010c0023t0001g0038 a0012c0025t0001g0157 a0013c0022t0001g0135 a0014c0038t0002g0188	101	218	0.4633	5	c.219 others(22): Show c.2197+344_2197+348dupTATTT		COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	18/47					INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120248917	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG01071.hp2 others(20): Show HG00408.hp1 HG00438.hp2 HG01071.hp2 HG01109.hp2 HG01884.hp2 HG01978.hp1 HG02258.hp1 HG02486.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03486.hp1 HG03516.hp1 HG03688.hp1 HG04199.hp1 HG06807.hp1 NA18950.hp2 NA18956.hp1 NA18978.hp2 NA18990.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0014 others(5): Show a0001c0001 a0001c0005 a0001c0014 a0001c0015 a0001c0024 a0001c0026 a0001c0027 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0005t0001 a0001c0014t0012 a0001c0015t0003 a0001c0024t0003 a0001c0026t0001 a0001c0027t0002 a0002c0002t0001	a0001c0001t0001g0086 a0001c0001t0001g0117 a0001c0001t0001g0134 others(20): Show a0001c0001t0001g0086 a0001c0001t0001g0117 a0001c0001t0001g0134 a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0001g0204 a0001c0001t0002g0019 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0129 a0001c0001t0002g0210 a0001c0001t0003g0043 a0001c0001t0003g0149 a0001c0001t0003g0162 a0001c0001t0005g0022 a0001c0005t0001g0068 a0001c0014t0012g0026 a0001c0015t0003g0094 a0001c0024t0003g0104 a0001c0026t0001g0124 a0001c0027t0002g0131 a0002c0002t0001g0020 a0002c0002t0001g0181	23	218	0.1055	5	c.260 others(24): Show c.2602+1204_2602+1208dupTTTTT		COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	21/47					INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120298597	T T	TATATA TATATA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp2 NA19062.hp1 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0015 a0002c0002 a0001c0015 a0002c0002	a0001c0015t0003 a0002c0002t0001 a0001c0015t0003 a0002c0002t0001	a0001c0015t0003g0096 a0002c0002t0001g0164 a0001c0015t0003g0096 a0002c0002t0001g0164	2	218	0.0092	5	c.431 others(24): Show c.4314+1009_4314+1010insATATA		COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	35/47						chr8	TogoVar
COL15A1_chr9_98938907_99075787	98950544	C C	CCCCTT CCCCTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18983.hp1 NA18984.hp1 others(2): Show NA18747.hp2 NA18983.hp1 NA18984.hp1 NA19076.hp1 NA19084.hp1	a0001 a0004 a0025 others(1): Show a0001 a0004 a0025 a0057	a0001c0001 a0001c0013 a0004c0005 others(2): Show a0001c0001 a0001c0013 a0004c0005 a0025c0053 a0057c0083	a0001c0001t0002 a0001c0013t0001 a0004c0005t0001 others(2): Show a0001c0001t0002 a0001c0013t0001 a0004c0005t0001 a0025c0053t0001 a0057c0083t0002	a0001c0001t0002g0014 a0001c0013t0001g0015 a0004c0005t0001g0017 others(2): Show a0001c0001t0002g0014 a0001c0013t0001g0015 a0004c0005t0001g0017 a0025c0053t0001g0013 a0057c0083t0002g0016	5	310	0.0161	5	c.100 others(22): Show c.100+6296_100+6297insCTTCC		COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99011423	A A	AAAAAC AAAAAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01109.hp1 others(30): Show HG00423.hp2 HG00597.hp1 HG01109.hp1 HG01256.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02109.hp2 HG02135.hp2 HG02258.hp2 HG02451.hp1 HG02683.hp2 HG02965.hp1 HG03486.hp2 HG03540.hp1 HG03669.hp1 HG03834.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp1 NA18942.hp2 NA18945.hp1 NA18968.hp2 NA19010.hp2 NA19064.hp2 NA19078.hp2 NA19240.hp2 NA20905.hp1	a0002 a0003 a0004 others(11): Show a0002 a0003 a0004 a0005 a0006 a0011 a0012 a0017 a0023 a0024 a0031 a0034 a0038 a0041	a0002c0003 a0002c0010 a0003c0004 others(16): Show a0002c0003 a0002c0010 a0003c0004 a0004c0005 a0005c0015 a0005c0019 a0005c0057 a0005c0059 a0006c0007 a0011c0020 a0012c0018 a0012c0058 a0017c0021 a0023c0025 a0024c0030 a0031c0060 a0034c0086 a0038c0061 a0041c0040	a0002c0003t0002 a0002c0010t0009 a0003c0004t0002 others(16): Show a0002c0003t0002 a0002c0010t0009 a0003c0004t0002 a0004c0005t0001 a0005c0015t0001 a0005c0019t0003 a0005c0057t0001 a0005c0059t0001 a0006c0007t0001 a0011c0020t0001 a0012c0018t0001 a0012c0058t0001 a0017c0021t0001 a0023c0025t0003 a0024c0030t0005 a0031c0060t0001 a0034c0086t0009 a0038c0061t0001 a0041c0040t0001	a0002c0003t0002g0193 a0002c0010t0009g0204 a0003c0004t0002g0275 others(30): Show a0002c0003t0002g0193 a0002c0010t0009g0204 a0003c0004t0002g0275 a0004c0005t0001g0307 a0005c0015t0001g0029 a0005c0015t0001g0154 a0005c0015t0001g0163 a0005c0015t0001g0273 a0005c0015t0001g0290 a0005c0019t0003g0054 a0005c0019t0003g0062 a0005c0019t0003g0104 a0005c0019t0003g0140 a0005c0019t0003g0289 a0005c0057t0001g0112 a0005c0059t0001g0041 a0006c0007t0001g0194 a0006c0007t0001g0216 a0011c0020t0001g0131 a0012c0018t0001g0033 a0012c0018t0001g0035 a0012c0018t0001g0036 a0012c0018t0001g0282 a0012c0058t0001g0073 a0017c0021t0001g0232 a0023c0025t0003g0135 a0023c0025t0003g0255 a0024c0030t0005g0127 a0024c0030t0005g0128 a0031c0060t0001g0020 a0034c0086t0009g0005 a0038c0061t0001g0023 a0041c0040t0001g0292	33	310	0.1065	5	c.135 others(24): Show c.1354-3993_1354-3992insAAACA		COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	9/41					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL16A1_chr1_31647263_31709017	31707338	C C	CCTTTT CCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02895.hp1 NA20905.hp1 HG01891.hp1 HG02895.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0016 a0002c0004 a0001c0001 a0001c0016 a0002c0004	a0001c0001t0002 a0001c0016t0002 a0002c0004t0001 a0001c0001t0002 a0001c0016t0002 a0002c0004t0001	a0001c0001t0002g0272 a0001c0016t0002g0276 a0002c0004t0001g0149 a0001c0001t0002g0272 a0001c0016t0002g0276 a0002c0004t0001g0149	3	342	0.0088	5	c.-35 others(16): Show c.-3537_-3536insAAAAG		COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding					3322		chr1	TogoVar
COL17A1_chr10_104026286_104090880	104077699	T T	TTTTTG TTTTTG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18964.hp1 NA18992.hp1 others(2): Show NA18955.hp2 NA18964.hp1 NA18992.hp1 NA19065.hp1 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0167 a0002c0002t0002g0168 others(1): Show a0002c0002t0002g0018 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0183	5	336	0.0149	5	c.98- others(18): Show c.98-178_98-174dupCAAAA		COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	3/55						chr10	TogoVar
COL18A1_chr21_45400165_45518720	45459980	G G	GTAGCA GTAGCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02572.hp1 others(9): Show HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02895.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 NA18906.hp2	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0010 a0011	a0001c0020 a0001c0036 a0001c0105 others(5): Show a0001c0020 a0001c0036 a0001c0105 a0005c0106 a0005c0107 a0006c0108 a0010c0109 a0011c0037	a0001c0020t0001 a0001c0036t0004 a0001c0105t0001 others(5): Show a0001c0020t0001 a0001c0036t0004 a0001c0105t0001 a0005c0106t0003 a0005c0107t0001 a0006c0108t0005 a0010c0109t0004 a0011c0037t0009	a0001c0020t0001g0008 a0001c0020t0001g0021 a0001c0020t0001g0131 others(9): Show a0001c0020t0001g0008 a0001c0020t0001g0021 a0001c0020t0001g0131 a0001c0036t0004g0028 a0001c0036t0004g0029 a0001c0105t0001g0007 a0005c0106t0003g0030 a0005c0107t0001g0039 a0006c0108t0005g0027 a0010c0109t0004g0196 a0011c0037t0009g0197 a0011c0037t0009g0198	12	292	0.0411	5	c.107 others(22): Show c.107-8262_107-8261insTAGCA		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41						chr21	TogoVar
COL18A1_chr21_45400165_45518720	45462865	G G	GAAGTC GAAGTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02572.hp1 others(9): Show HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02895.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 NA18906.hp2	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0010 a0011	a0001c0020 a0001c0036 a0001c0105 others(5): Show a0001c0020 a0001c0036 a0001c0105 a0005c0106 a0005c0107 a0006c0108 a0010c0109 a0011c0037	a0001c0020t0001 a0001c0036t0004 a0001c0105t0001 others(5): Show a0001c0020t0001 a0001c0036t0004 a0001c0105t0001 a0005c0106t0003 a0005c0107t0001 a0006c0108t0005 a0010c0109t0004 a0011c0037t0009	a0001c0020t0001g0008 a0001c0020t0001g0021 a0001c0020t0001g0131 others(9): Show a0001c0020t0001g0008 a0001c0020t0001g0021 a0001c0020t0001g0131 a0001c0036t0004g0028 a0001c0036t0004g0029 a0001c0105t0001g0007 a0005c0106t0003g0030 a0005c0107t0001g0039 a0006c0108t0005g0027 a0010c0109t0004g0196 a0011c0037t0009g0197 a0011c0037t0009g0198	12	292	0.0411	5	c.107 others(22): Show c.107-5375_107-5374insGTCAA		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921413	T T	TATATC TATATC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG06807.hp2 HG03225.hp1 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0020 a0002c0006t0003 a0002c0003t0020 a0002c0006t0003	a0002c0003t0020g0071 a0002c0006t0003g0094 a0002c0003t0020g0071 a0002c0006t0003g0094	2	182	0.0110	5	c.267 others(22): Show c.267-6491_267-6487dupCATAT		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69989553	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp2 HG00741.hp2 others(32): Show HG00642.hp2 HG00673.hp2 HG00741.hp2 HG01099.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp2 HG01884.hp2 HG01952.hp2 HG02074.hp1 HG02145.hp2 HG02165.hp1 HG02683.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03540.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18942.hp1 NA18948.hp2 NA18949.hp2 NA18962.hp2 NA18964.hp2 NA18979.hp2 NA18991.hp1 NA19043.hp1 NA19056.hp2 NA19072.hp1 NA19077.hp2 NA19082.hp1 NA19084.hp2 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0009 a0013	a0001c0002 a0002c0003 a0002c0004 others(7): Show a0001c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0009 a0002c0011 a0003c0010 a0007c0020 a0009c0023 a0013c0021	a0001c0002t0024 a0002c0003t0002 a0002c0003t0008 others(17): Show a0001c0002t0024 a0002c0003t0002 a0002c0003t0008 a0002c0003t0012 a0002c0003t0021 a0002c0003t0031 a0002c0003t0039 a0002c0004t0001 a0002c0004t0008 a0002c0004t0011 a0002c0006t0003 a0002c0006t0007 a0002c0006t0036 a0002c0009t0004 a0002c0011t0005 a0003c0010t0013 a0003c0010t0027 a0007c0020t0002 a0009c0023t0001 a0013c0021t0003	a0001c0002t0024g0028 a0002c0003t0002g0018 a0002c0003t0002g0020 others(32): Show a0001c0002t0024g0028 a0002c0003t0002g0018 a0002c0003t0002g0020 a0002c0003t0002g0026 a0002c0003t0002g0032 a0002c0003t0002g0040 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0049 a0002c0003t0008g0002 a0002c0003t0012g0164 a0002c0003t0021g0015 a0002c0003t0031g0075 a0002c0003t0039g0127 a0002c0004t0001g0036 a0002c0004t0001g0048 a0002c0004t0001g0124 a0002c0004t0008g0038 a0002c0004t0011g0039 a0002c0006t0003g0029 a0002c0006t0003g0030 a0002c0006t0003g0035 a0002c0006t0007g0019 a0002c0006t0007g0085 a0002c0006t0036g0017 a0002c0009t0004g0031 a0002c0009t0004g0037 a0002c0011t0005g0021 a0002c0011t0005g0076 a0003c0010t0013g0172 a0003c0010t0013g0173 a0003c0010t0027g0119 a0007c0020t0002g0045 a0009c0023t0001g0052 a0013c0021t0003g0034	35	182	0.1923	5	c.102 others(26): Show c.1026+26695_1026+26699dupTTTTT		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	11/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	70074498	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG01257.hp2 others(20): Show HG00741.hp1 HG01167.hp2 HG01257.hp2 HG01496.hp1 HG02257.hp1 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG04199.hp1 NA18941.hp2 NA18979.hp1 NA19010.hp1 NA19060.hp2 NA19072.hp2 NA19077.hp1 NA19084.hp1 NA20300.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0002c0003 a0002c0004 a0009c0023	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0038 a0001c0002t0002 a0001c0002t0016 a0001c0005t0003 a0001c0007t0033 a0001c0007t0035 a0001c0008t0004 a0002c0003t0002 a0002c0003t0034 a0002c0004t0002 a0002c0004t0011 a0009c0023t0001	a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0080 others(20): Show a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0125 a0001c0001t0001g0167 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0009g0134 a0001c0001t0038g0072 a0001c0002t0002g0061 a0001c0002t0016g0154 a0001c0005t0003g0148 a0001c0007t0033g0120 a0001c0007t0035g0157 a0001c0008t0004g0146 a0002c0003t0002g0026 a0002c0003t0034g0041 a0002c0004t0002g0033 a0002c0004t0011g0111 a0009c0023t0001g0052	23	182	0.1264	5	c.122 others(24): Show c.1224+6037_1224+6041dupAAAAA		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	15/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	70115825	G G	GTTTTT GTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01496.hp1 HG02886.hp1 others(5): Show HG01257.hp2 HG01496.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG04228.hp1 NA19082.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0005 a0002c0004 others(2): Show a0001c0002 a0001c0005 a0002c0004 a0002c0006 a0003c0010	a0001c0002t0002 a0001c0005t0003 a0002c0004t0001 others(4): Show a0001c0002t0002 a0001c0005t0003 a0002c0004t0001 a0002c0004t0002 a0002c0006t0007 a0003c0010t0013 a0003c0010t0027	a0001c0002t0002g0061 a0001c0005t0003g0148 a0002c0004t0001g0036 others(5): Show a0001c0002t0002g0061 a0001c0005t0003g0148 a0002c0004t0001g0036 a0002c0004t0002g0033 a0002c0006t0007g0085 a0003c0010t0013g0172 a0003c0010t0013g0173 a0003c0010t0027g0119	8	182	0.0440	5	c.127 others(24): Show c.1279-6042_1279-6038dupTTTTT		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	16/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	70145722	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG01978.hp1 others(5): Show HG01257.hp1 HG01257.hp2 HG01978.hp1 HG03041.hp1 HG03098.hp2 HG04184.hp1 NA18997.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0008 others(1): Show a0001c0001 a0001c0007 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0007t0017 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0007t0017 a0001c0008t0001 a0001c0008t0030 a0002c0004t0001 a0002c0004t0002	a0001c0001t0001g0058 a0001c0001t0001g0167 a0001c0007t0017g0147 others(5): Show a0001c0001t0001g0058 a0001c0001t0001g0167 a0001c0007t0017g0147 a0001c0008t0001g0005 a0001c0008t0030g0082 a0002c0004t0001g0068 a0002c0004t0001g0116 a0002c0004t0002g0033	8	182	0.0440	5	c.177 others(22): Show c.1770+727_1770+731dupTTTTT		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	25/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
COL1A2_chr7_94389895_94436227	94429319	G G	GGACTA GGACTA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18997.hp2 NA18997.hp2	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0002 a0015c0028t0002	a0015c0028t0002g0207 a0015c0028t0002g0207	1	438	0.0023	5	c.384 others(14): Show c.3845_3846insCTAGA	p.Glu others(6): Show p.Glu1282fs	COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	51/52	3983/5072	3846/4101	1282/1366		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL21A1_chr6_56051590_56252580	56101748	A A	ATTGAG ATTGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01071.hp1 others(16): Show HG00099.hp1 HG00735.hp2 HG01071.hp1 HG01192.hp1 HG01257.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01943.hp2 HG02572.hp1 HG02572.hp2 HG03942.hp2 NA18522.hp1 NA18939.hp2 NA18956.hp2 NA18971.hp2 NA18981.hp2 NA19005.hp2 NA19043.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0001 a0001c0002 a0001c0015 others(5): Show a0001c0001 a0001c0002 a0001c0015 a0001c0028 a0002c0005 a0002c0006 a0006c0011 a0010c0012	a0001c0001t0014 a0001c0002t0002 a0001c0015t0010 others(6): Show a0001c0001t0014 a0001c0002t0002 a0001c0015t0010 a0001c0028t0022 a0002c0005t0007 a0002c0005t0014 a0002c0006t0007 a0006c0011t0004 a0010c0012t0004	a0001c0001t0014g0087 a0001c0002t0002g0197 a0001c0015t0010g0010 others(16): Show a0001c0001t0014g0087 a0001c0002t0002g0197 a0001c0015t0010g0010 a0001c0028t0022g0148 a0002c0005t0007g0119 a0002c0005t0007g0122 a0002c0005t0007g0200 a0002c0005t0007g0202 a0002c0005t0007g0203 a0002c0005t0007g0251 a0002c0005t0014g0035 a0002c0006t0007g0199 a0002c0006t0007g0201 a0002c0006t0007g0204 a0002c0006t0007g0205 a0002c0006t0007g0206 a0006c0011t0004g0090 a0006c0011t0004g0091 a0010c0012t0004g0030	19	264	0.0720	5	c.175 others(22): Show c.1759-224_1759-223insCTCAA		COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	16/29						chr6	TogoVar

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