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	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
COL4A3_chr2_227159624_227319792	227176049	C C	CAGGCCAG others(10): Show CAGGCCAGAGGGGACTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01167.hp1 HG01169.hp2 others(26): Show HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01496.hp2 HG01884.hp1 HG02004.hp1 HG02145.hp1 HG02273.hp1 HG02630.hp1 HG02818.hp2 HG02976.hp2 HG03195.hp2 HG03654.hp1 NA18957.hp2 NA18965.hp1 NA18968.hp2 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18983.hp2 NA18994.hp2 NA18998.hp2 NA19057.hp2 NA19058.hp2 NA19074.hp1 NA19086.hp2 NA20129.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011	a0001c0001 a0001c0047 a0002c0004 others(9): Show a0001c0001 a0001c0047 a0002c0004 a0002c0007 a0003c0011 a0004c0003 a0005c0005 a0006c0010 a0006c0016 a0007c0006 a0008c0009 a0011c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0047t0002 a0002c0004t0003 a0002c0004t0008 a0002c0007t0001 a0002c0007t0003 a0003c0011t0001 a0004c0003t0003 a0004c0003t0004 a0005c0005t0001 a0006c0010t0001 a0006c0016t0018 a0007c0006t0005 a0008c0009t0001 a0011c0014t0001 a0011c0014t0002	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 others(26): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0002g0035 a0001c0001t0016g0146 a0001c0047t0002g0026 a0002c0004t0003g0144 a0002c0004t0008g0147 a0002c0007t0001g0017 a0002c0007t0003g0037 a0002c0007t0003g0145 a0003c0011t0001g0143 a0004c0003t0003g0031 a0004c0003t0004g0027 a0004c0003t0004g0028 a0005c0005t0001g0032 a0006c0010t0001g0014 a0006c0016t0018g0036 a0007c0006t0005g0015 a0007c0006t0005g0030 a0008c0009t0001g0029 a0011c0014t0001g0022 a0011c0014t0002g0020	29	342	0.0848	17	c.87+ others(34): Show c.87+11238_87+11239insGCCAGAGGGGACTTTAG		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(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0100 a0005c0005t0002g0100	1	56	0.0179	17	c.546 others(32): Show c.546+711_546+712insATATATTTTTTTTTTTT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0026 a0026	a0026c0030 a0026c0030	a0026c0030t0011 a0026c0030t0011	a0026c0030t0011g0062 a0026c0030t0011g0062	1	56	0.0179	17	c.546 others(32): Show c.546+711_546+712insATATTTTTTTTTTTTTT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227302677	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00735.hp1 others(26): Show HG00438.hp2 HG00609.hp1 HG00735.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01433.hp2 HG01943.hp2 HG01975.hp2 HG02080.hp1 HG02132.hp1 HG02155.hp2 HG02615.hp2 HG02683.hp2 HG02895.hp1 HG02897.hp1 HG03017.hp1 HG03669.hp2 HG03710.hp2 NA18950.hp2 NA18962.hp2 NA18977.hp2 NA18995.hp2 NA18999.hp1 NA19003.hp1 NA19057.hp2 NA19058.hp2 NA19079.hp2 NA20300.hp1	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0011 a0012 a0029	a0001c0001 a0002c0004 a0002c0007 others(4): Show a0001c0001 a0002c0004 a0002c0007 a0009c0008 a0011c0014 a0012c0017 a0029c0046	a0001c0001t0001 a0001c0001t0023 a0002c0004t0008 others(7): Show a0001c0001t0001 a0001c0001t0023 a0002c0004t0008 a0002c0004t0013 a0002c0004t0025 a0002c0007t0001 a0009c0008t0017 a0011c0014t0001 a0012c0017t0001 a0029c0046t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0091 others(26): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0136 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0001g0243 a0001c0001t0001g0280 a0001c0001t0001g0289 a0001c0001t0023g0286 a0002c0004t0008g0337 a0002c0004t0013g0339 a0002c0004t0013g0340 a0002c0004t0025g0058 a0002c0007t0001g0169 a0009c0008t0017g0218 a0011c0014t0001g0022 a0012c0017t0001g0166 a0029c0046t0001g0312	29	53	0.5472	17	c.388 others(34): Show c.3883-348_3883-332dupAAAAAAAAAAAAAAAAA		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	43/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227009713	G G	GGAAAAGA others(10): Show GGAAAAGAGAAGAGAAGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp2 NA18906.hp1 others(1): Show HG02451.hp1 HG03139.hp2 NA18906.hp1 NA21309.hp1	a0020 a0028 a0034 a0020 a0028 a0034	a0020c0041 a0020c0054 a0028c0037 others(1): Show a0020c0041 a0020c0054 a0028c0037 a0034c0033	a0020c0041t0010 a0020c0054t0010 a0028c0037t0016 others(1): Show a0020c0041t0010 a0020c0054t0010 a0028c0037t0016 a0034c0033t0032	a0020c0041t0010g0028 a0020c0054t0010g0020 a0028c0037t0016g0003 others(1): Show a0020c0041t0010g0028 a0020c0054t0010g0020 a0028c0037t0016g0003 a0034c0033t0032g0169	4	137	0.0292	17	c.452 others(34): Show c.4522+583_4522+599dupTCTTCTCTTCTCTTTTC		COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	46/47						chr2	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	99	0.0101	17	c.81+ others(34): Show c.81+33428_81+33429insATATATATATATATATT		COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52					INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00733.hp2 HG00738.hp1 others(7): Show HG00609.hp1 HG00733.hp2 HG00738.hp1 HG01981.hp2 HG02129.hp1 HG02809.hp1 NA18947.hp2 NA18995.hp1 NA19003.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0006 a0001c0011t0001 a0001c0001t0001 a0001c0001t0006 a0001c0011t0001	a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0001g0088 others(7): Show a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0203 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0006g0212 a0001c0011t0001g0084	10	108	0.0926	17	c.81+ others(34): Show c.81+33428_81+33429insATATATATATATATTTT		COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52					INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG00673.hp1 others(23): Show HG00408.hp1 HG00642.hp1 HG00673.hp1 HG01074.hp1 HG01081.hp2 HG01258.hp1 HG01358.hp1 HG01517.hp1 HG01978.hp1 HG02109.hp2 HG02523.hp2 HG03688.hp1 HG04184.hp1 NA18939.hp2 NA18955.hp1 NA18973.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19074.hp2 NA19075.hp1 NA19084.hp1 NA19091.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0014 a0001c0001 a0008c0014	a0001c0001t0001 a0008c0014t0001 a0001c0001t0001 a0008c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0038 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0194 a0001c0001t0001g0211 a0001c0001t0001g0261 a0001c0001t0001g0265 a0008c0014t0001g0108	26	124	0.2097	17	c.81+ others(34): Show c.81+33428_81+33429insATATATATATATTTTTT		COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52					INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	99	0.0101	17	c.81+ others(34): Show c.81+33428_81+33429insATATATATATTTTTTTT		COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52					INFO_REALIGN_3_PRIME	chrX	TogoVar
COL5A1_chr9_134636803_134849843	134759271	T T	TACACACA others(10): Show TACACACATGCACACACA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02647.hp2 others(1): Show HG02451.hp1 HG02486.hp2 HG02647.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0003 a0001c0005t0006 a0001c0005t0014 others(1): Show a0001c0005t0003 a0001c0005t0006 a0001c0005t0014 a0001c0007t0023	a0001c0005t0003g0265 a0001c0005t0006g0039 a0001c0005t0014g0258 others(1): Show a0001c0005t0003g0265 a0001c0005t0006g0039 a0001c0005t0014g0258 a0001c0007t0023g0232	4	208	0.0192	17	c.193 others(34): Show c.1935+976_1935+992dupACACACATGCACACACA		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134759272	A A	ACACACAT others(10): Show ACACACATGCACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01167.hp2 others(14): Show HG00140.hp1 HG00741.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02723.hp2 HG02735.hp2 HG03516.hp1 HG04199.hp1 HG04204.hp1 NA19043.hp1 NA19240.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0031 a0001c0044 a0011c0043	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0003t0008 a0001c0003t0015 a0001c0004t0002 a0001c0004t0018 a0001c0006t0019 a0001c0007t0004 a0001c0007t0017 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0031t0006 a0001c0044t0057 a0011c0043t0043	a0001c0001t0001g0147 a0001c0001t0004g0102 a0001c0001t0009g0233 others(14): Show a0001c0001t0001g0147 a0001c0001t0004g0102 a0001c0001t0009g0233 a0001c0003t0008g0186 a0001c0003t0015g0189 a0001c0004t0002g0046 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0006t0019g0264 a0001c0007t0004g0028 a0001c0007t0017g0241 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0085 a0001c0031t0006g0048 a0001c0044t0057g0042 a0011c0043t0043g0037	17	270	0.0630	17	c.193 others(34): Show c.1935+977_1935+993dupCACACATGCACACACAC		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134759642	A A	ACACACAT others(10): Show ACACACATGCACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00558.hp1 others(80): Show HG00140.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18906.hp1 NA18950.hp1 NA18961.hp2 NA18967.hp1 NA18999.hp1 NA19005.hp1 NA19007.hp2 NA19043.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0011 a0014	a0001c0001 a0001c0002 a0001c0003 others(32): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0015 a0001c0018 a0001c0019 a0001c0027 a0001c0028 a0001c0031 a0001c0032 a0001c0033 a0001c0036 a0001c0039 a0001c0044 a0001c0049 a0001c0056 a0001c0057 a0001c0060 a0001c0064 a0001c0065 a0002c0017 a0004c0029 a0005c0034 a0006c0062 a0007c0037 a0011c0043 a0014c0053	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(63): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0055 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0003t0010 a0001c0003t0015 a0001c0004t0002 a0001c0004t0018 a0001c0005t0003 a0001c0005t0006 a0001c0005t0014 a0001c0005t0045 a0001c0006t0001 a0001c0006t0004 a0001c0006t0007 a0001c0006t0010 a0001c0006t0019 a0001c0006t0047 a0001c0006t0048 a0001c0007t0004 a0001c0007t0017 a0001c0007t0023 a0001c0008t0001 a0001c0008t0003 a0001c0009t0001 a0001c0009t0003 a0001c0009t0023 a0001c0010t0003 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0015t0052 a0001c0018t0008 a0001c0019t0022 a0001c0027t0001 a0001c0028t0038 a0001c0031t0006 a0001c0032t0010 a0001c0033t0006 a0001c0036t0035 a0001c0039t0004 a0001c0044t0057 a0001c0049t0003 a0001c0056t0001 a0001c0057t0002 a0001c0060t0004 a0001c0064t0019 a0001c0065t0003 a0002c0017t0003 a0004c0029t0002 a0004c0029t0005 a0005c0034t0009 a0006c0062t0011 a0007c0037t0001 a0011c0043t0043 a0014c0053t0029	a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0004g0102 others(79): Show a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0004g0102 a0001c0001t0005g0119 a0001c0001t0009g0233 a0001c0002t0001g0144 a0001c0002t0001g0156 a0001c0002t0002g0057 a0001c0002t0002g0074 a0001c0002t0002g0077 a0001c0002t0002g0096 a0001c0002t0002g0124 a0001c0002t0004g0015 a0001c0002t0005g0060 a0001c0002t0005g0063 a0001c0002t0005g0211 a0001c0002t0055g0152 a0001c0003t0001g0123 a0001c0003t0002g0001 a0001c0003t0003g0255 a0001c0003t0004g0038 a0001c0003t0004g0266 a0001c0003t0008g0186 a0001c0003t0010g0040 a0001c0003t0010g0259 a0001c0003t0015g0189 a0001c0004t0002g0046 a0001c0004t0002g0228 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0005t0003g0265 a0001c0005t0006g0039 a0001c0005t0014g0258 a0001c0005t0045g0267 a0001c0006t0001g0108 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0006t0007g0103 a0001c0006t0010g0031 a0001c0006t0019g0264 a0001c0006t0047g0019 a0001c0006t0048g0047 a0001c0007t0004g0028 a0001c0007t0017g0241 a0001c0007t0023g0232 a0001c0008t0001g0116 a0001c0008t0001g0149 a0001c0008t0003g0017 a0001c0009t0001g0106 a0001c0009t0001g0198 a0001c0009t0003g0261 a0001c0009t0023g0263 a0001c0010t0003g0068 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0085 a0001c0015t0052g0016 a0001c0018t0008g0179 a0001c0018t0008g0182 a0001c0019t0022g0231 a0001c0027t0001g0130 a0001c0028t0038g0138 a0001c0031t0006g0048 a0001c0032t0010g0238 a0001c0033t0006g0192 a0001c0036t0035g0045 a0001c0039t0004g0197 a0001c0044t0057g0042 a0001c0049t0003g0183 a0001c0056t0001g0084 a0001c0057t0002g0024 a0001c0060t0004g0240 a0001c0064t0019g0010 a0001c0065t0003g0009 a0002c0017t0003g0223 a0004c0029t0002g0097 a0004c0029t0005g0100 a0005c0034t0009g0195 a0006c0062t0011g0026 a0007c0037t0001g0058 a0011c0043t0043g0037 a0014c0053t0029g0134	83	270	0.3074	17	c.193 others(36): Show c.1935+1360_1935+1361insCACCACACATGCACACA		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189059585	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG00621.hp2 others(21): Show HG00423.hp1 HG00621.hp1 HG00621.hp2 HG01258.hp1 HG01358.hp2 HG01433.hp2 HG01884.hp2 HG02165.hp2 HG02717.hp1 HG02895.hp2 HG03195.hp2 HG03669.hp1 HG03834.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18940.hp1 NA18951.hp2 NA18973.hp2 NA18992.hp1 NA18992.hp2 NA19002.hp2 NA20905.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0013	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0004c0009 a0005c0013 a0013c0015	a0001c0001t0001 a0001c0002t0002 a0001c0004t0018 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0018 a0001c0010t0007 a0004c0009t0001 a0005c0013t0001 a0013c0015t0001	a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0042 others(21): Show a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0137 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0208 a0001c0001t0001g0239 a0001c0002t0002g0057 a0001c0004t0018g0129 a0001c0010t0007g0074 a0004c0009t0001g0027 a0005c0013t0001g0114 a0013c0015t0001g0108	24	60	0.4000	17	c.208 others(34): Show c.2086-709_2086-693dupAAAAAAAAAAAAAAAAA		COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	31/53						chr2	TogoVar
COL5A3_chr19_9954561_10015504	9970057	C C	CTGGGTGA others(10): Show CTGGGTGAGTGGGGGCTG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04204.hp2 HG04115.hp2 HG04204.hp2	a0001 a0006 a0001 a0006	a0001c0117 a0006c0005 a0001c0117 a0006c0005	a0001c0117t0005 a0006c0005t0017 a0001c0117t0005 a0006c0005t0017	a0001c0117t0005g0140 a0006c0005t0017g0208 a0001c0117t0005g0140 a0006c0005t0017g0208	2	400	0.0050	17	c.393 others(34): Show c.3937-152_3937-136dupCAGCCCCCACTCACCCA		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66						chr19	TogoVar
COL5A3_chr19_9954561_10015504	9970255	G G	GTGGGGGC others(10): Show GTGGGGGCTATAAGGTGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG01069.hp2 others(26): Show HG00609.hp2 HG00621.hp1 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01952.hp1 HG03579.hp1 HG03834.hp1 HG03942.hp1 NA18747.hp1 NA18943.hp1 NA18949.hp1 NA18954.hp2 NA18963.hp1 NA18984.hp1 NA18998.hp1 NA19063.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA20300.hp2 NA20905.hp2	a0009 a0010 a0030 others(3): Show a0009 a0010 a0030 a0042 a0045 a0067	a0009c0007 a0009c0048 a0010c0015 others(8): Show a0009c0007 a0009c0048 a0010c0015 a0010c0044 a0010c0052 a0010c0119 a0010c0140 a0030c0047 a0042c0059 a0045c0094 a0067c0143	a0009c0007t0001 a0009c0007t0005 a0009c0007t0010 others(14): Show a0009c0007t0001 a0009c0007t0005 a0009c0007t0010 a0009c0007t0024 a0009c0048t0001 a0010c0015t0001 a0010c0015t0002 a0010c0044t0002 a0010c0044t0021 a0010c0052t0001 a0010c0052t0010 a0010c0119t0002 a0010c0140t0001 a0030c0047t0001 a0042c0059t0001 a0045c0094t0001 a0067c0143t0010	a0009c0007t0001g0115 a0009c0007t0001g0117 a0009c0007t0001g0129 others(26): Show a0009c0007t0001g0115 a0009c0007t0001g0117 a0009c0007t0001g0129 a0009c0007t0001g0130 a0009c0007t0001g0132 a0009c0007t0001g0394 a0009c0007t0001g0395 a0009c0007t0005g0116 a0009c0007t0010g0128 a0009c0007t0024g0142 a0009c0048t0001g0120 a0009c0048t0001g0127 a0010c0015t0001g0105 a0010c0015t0001g0106 a0010c0015t0001g0152 a0010c0015t0001g0381 a0010c0015t0001g0382 a0010c0015t0002g0139 a0010c0044t0002g0257 a0010c0044t0021g0308 a0010c0052t0001g0104 a0010c0052t0010g0281 a0010c0119t0002g0297 a0010c0140t0001g0066 a0030c0047t0001g0318 a0030c0047t0001g0319 a0042c0059t0001g0212 a0045c0094t0001g0022 a0067c0143t0010g0407	29	393	0.0738	17	c.393 others(34): Show c.3937-334_3937-333insTCACCTTATAGCCCCCA		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66						chr19	TogoVar
COL5A3_chr19_9954561_10015504	9970412	A A	AGTGGGGT others(10): Show AGTGGGGTCTGTGGGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02145.hp2 HG02615.hp1 others(4): Show HG00558.hp2 HG02145.hp2 HG02615.hp1 HG02970.hp2 NA19080.hp1 NA19240.hp1 NA20752.hp2	a0001 a0006 a0041 a0001 a0006 a0041	a0001c0033 a0001c0045 a0001c0089 others(3): Show a0001c0033 a0001c0045 a0001c0089 a0001c0142 a0006c0070 a0041c0090	a0001c0033t0002 a0001c0045t0001 a0001c0045t0002 others(4): Show a0001c0033t0002 a0001c0045t0001 a0001c0045t0002 a0001c0089t0001 a0001c0142t0001 a0006c0070t0002 a0041c0090t0003	a0001c0033t0002g0156 a0001c0045t0001g0269 a0001c0045t0002g0011 others(4): Show a0001c0033t0002g0156 a0001c0045t0001g0269 a0001c0045t0002g0011 a0001c0089t0001g0404 a0001c0142t0001g0147 a0006c0070t0002g0235 a0041c0090t0003g0162	7	410	0.0171	17	c.393 others(34): Show c.3936+209_3936+210insACACCCACAGACCCCAC		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66						chr19	TogoVar
COL5A3_chr19_9954561_10015504	9977985	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp2 HG01928.hp1 HG01928.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0023 a0001c0001 a0005c0023	a0001c0001t0001 a0005c0023t0003 a0001c0001t0001 a0005c0023t0003	a0001c0001t0001g0093 a0005c0023t0003g0258 a0001c0001t0001g0093 a0005c0023t0003g0258	2	406	0.0049	17	c.301 others(34): Show c.3019-285_3019-284insTATATATATATATATAT		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	41/66						chr19	TogoVar
COL6A1_chr21_45976770_46010048	45977769	A A	AGGAGAGA others(10): Show AGGAGAGAGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02965.hp1 HG02559.hp2 HG02965.hp1	a0001 a0003 a0001 a0003	a0001c0018 a0003c0004 a0001c0018 a0003c0004	a0001c0018t0001 a0003c0004t0001 a0001c0018t0001 a0003c0004t0001	a0001c0018t0001g0049 a0003c0004t0001g0068 a0001c0018t0001g0049 a0003c0004t0001g0068	2	122	0.0164	17	c.-40 others(28): Show c.-4082_-4081insGGAGAGAGGAGGGAGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					4000		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45980908	T T	TCTCTCTG others(10): Show TCTCTCTGTCTCTGTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0003 a0001c0024t0003	a0001c0024t0003g0031 a0001c0024t0003g0031	1	126	0.0079	17	c.-94 others(26): Show c.-943_-942insCTCTCTGTCTCTGTCTC		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					861		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981688	C C	CCCTCCCG others(10): Show CCCTCCCGCCCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0034 a0001c0003t0003g0034	1	126	0.0079	17	c.-16 others(26): Show c.-163_-162insCCTCCCGCCCCTCCCCT		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					81		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATAT others(10): Show ATATATATTATATATATG	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18981.hp2 NA18998.hp2 others(3): Show HG01081.hp2 NA18981.hp2 NA18998.hp2 NA19005.hp2 NA19009.hp1 NA21309.hp1	a0001 a0013 a0019 others(1): Show a0001 a0013 a0019 a0071	a0001c0002 a0013c0013 a0019c0035 others(1): Show a0001c0002 a0013c0013 a0019c0035 a0071c0081	a0001c0002t0001 a0001c0002t0005 a0013c0013t0001 others(2): Show a0001c0002t0001 a0001c0002t0005 a0013c0013t0001 a0019c0035t0001 a0071c0081t0001	a0001c0002t0001g0144 a0001c0002t0005g0005 a0013c0013t0001g0014 others(3): Show a0001c0002t0001g0144 a0001c0002t0005g0005 a0013c0013t0001g0014 a0013c0013t0001g0049 a0019c0035t0001g0162 a0071c0081t0001g0096	6	78	0.0769	17	c.932 others(36): Show c.9328+1332_9328+1333insCATATATATAATATATA		COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43						chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362252	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0001 a0017c0020t0001	a0017c0020t0001g0269 a0017c0020t0001g0269	1	61	0.0164	17	c.-28 others(36): Show c.-28-11359_-28-11358insCTCTCTCTCTCTCTCTC		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40						chr3	TogoVar
COL6A6_chr3_130512177_130682042	130635724	C C	CAGGAGAG others(10): Show CAGGAGAGACTGGGCTGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19086.hp1 NA19086.hp1	a0046 a0046	a0046c0068 a0046c0068	a0046c0068t0002 a0046c0068t0002	a0046c0068t0002g0077 a0046c0068t0002g0077	1	262	0.0038	17	c.505 others(26): Show c.5058_5074dupAGAGACTGGGCTGAAGG	p.Gly others(6): Show p.Gly1692fs	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/37	5327/8689	5075/6792	1692/2263		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130636798	C C	CCCCCTCC others(10): Show CCCCCTCCCCTTCCTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01071.hp2 others(5): Show HG00280.hp1 HG01070.hp2 HG01071.hp2 HG03017.hp1 HG03239.hp2 HG03688.hp1 HG04115.hp2 NA20300.hp2	a0005 a0009 a0011 a0005 a0009 a0011	a0005c0003 a0009c0055 a0011c0008 a0005c0003 a0009c0055 a0011c0008	a0005c0003t0001 a0005c0003t0002 a0005c0003t0004 others(3): Show a0005c0003t0001 a0005c0003t0002 a0005c0003t0004 a0005c0003t0010 a0009c0055t0001 a0011c0008t0001	a0005c0003t0001g0150 a0005c0003t0001g0151 a0005c0003t0001g0153 others(5): Show a0005c0003t0001g0150 a0005c0003t0001g0151 a0005c0003t0001g0153 a0005c0003t0002g0098 a0005c0003t0004g0224 a0005c0003t0010g0246 a0009c0055t0001g0176 a0011c0008t0001g0187	8	261	0.0307	17	c.509 others(36): Show c.5091+1047_5091+1048insTCCTCCTCCCCTCCCCT		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130636857	T T	TCCCCTTC others(10): Show TCCCCTTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0014 a0004c0013t0014	a0004c0013t0014g0031 a0004c0013t0014g0031	1	257	0.0039	17	c.509 others(36): Show c.5091+1104_5091+1105insCCTTCCTCCCCCCTTCC		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130636939	C C	CTCCCCCT others(10): Show CTCCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18949.hp2 HG00609.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0056 a0001c0001 a0001c0056	a0001c0001t0001 a0001c0056t0002 a0001c0001t0001 a0001c0056t0002	a0001c0001t0001g0134 a0001c0056t0002g0059 a0001c0001t0001g0134 a0001c0056t0002g0059	2	213	0.0094	17	c.509 others(36): Show c.5091+1189_5091+1190insTCCCCTTCCCCCTCCCC		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0005 a0001c0001t0011g0005	1	142	0.0070	17	c.-3- others(34): Show c.-3-16842_-3-16841insATATATATATATATTTT		COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	129	0.0078	17	c.-11 others(28): Show c.-1118_-1117insATATATATATATATATA		COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding					1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AAAATTTT others(10): Show AAAATTTTATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	262	0.0038	17	c.-39 others(28): Show c.-3926_-3925insATATATATATAAAATTT		COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding					3837		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AATTATAT others(10): Show AATTATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01257.hp1 others(15): Show HG00099.hp2 HG00140.hp2 HG01257.hp1 HG02165.hp1 HG02735.hp1 HG02886.hp2 HG03942.hp1 HG04115.hp2 NA18944.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18990.hp2 NA18998.hp1 NA19004.hp1 NA19005.hp2 NA19030.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0002c0010 others(1): Show a0001c0002 a0002c0001 a0002c0010 a0004c0004	a0001c0002t0001 a0002c0001t0001 a0002c0001t0005 others(2): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0005 a0002c0010t0001 a0004c0004t0002	a0001c0002t0001g0030 a0002c0001t0001g0003 a0002c0001t0001g0009 others(10): Show a0001c0002t0001g0030 a0002c0001t0001g0003 a0002c0001t0001g0009 a0002c0001t0001g0015 a0002c0001t0001g0018 a0002c0001t0001g0034 a0002c0001t0001g0054 a0002c0001t0001g0061 a0002c0001t0001g0068 a0002c0001t0005g0148 a0002c0001t0005g0163 a0002c0010t0001g0057 a0004c0004t0002g0052	18	279	0.0645	17	c.-39 others(28): Show c.-3926_-3925insATATATATATATATAAT		COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding					3837		chr1	TogoVar
COL9A3_chr20_62812050_62846159	62826520	G G	GGCTGATG others(10): Show GGCTGATGAACTCTGCTC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	410	0.0024	17	c.739 others(32): Show c.739-241_739-225dupTGAACTCTGCTCGCTGA		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	14/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	241	0.0041	17	c.148 others(34): Show c.148+2201_148+2202insAAAAAAATATATATATA		COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG01517.hp2 others(6): Show HG01109.hp2 HG01175.hp2 HG01517.hp2 HG02027.hp1 HG03927.hp2 HG04184.hp1 NA18952.hp2 NA18973.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0142 a0001c0001t0002g0154 others(6): Show a0001c0001t0002g0010 a0001c0001t0002g0142 a0001c0001t0002g0154 a0001c0001t0002g0167 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0190 a0001c0001t0002g0221 a0001c0001t0002g0222	9	249	0.0361	17	c.148 others(34): Show c.148+2201_148+2202insAAAAATATATATATATA		COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp1 HG01928.hp1 HG01099.hp1 HG01106.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0152 a0001c0001t0002g0163 a0001c0001t0016g0168 a0001c0001t0002g0152 a0001c0001t0002g0163 a0001c0001t0016g0168	3	243	0.0123	17	c.148 others(34): Show c.148+2201_148+2202insAAATATATATATATATA		COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC12_chr18_311737_505701	319331	A A	ATATATAT others(10): Show ATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0143 a0003c0002t0143	a0003c0002t0143g0244 a0003c0002t0143g0244	1	343	0.0029	17	c.71 others(26): Show c.713_*714insATATATATATATATATA		COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10				713		chr18	TogoVar
COLEC12_chr18_311737_505701	502305	G G	GCTTTCTT others(10): Show GCTTTCTTTTTTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0185 a0003c0002t0185	a0003c0002t0185g0144 a0003c0002t0185g0144	1	358	0.0028	17	c.-17 others(28): Show c.-1792_-1791insAAAGAAAAAAAAGAAAG		COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding					1605		chr18	TogoVar
COLEC12_chr18_311737_505701	502305	G G	GCTTTCTT others(10): Show GCTTTCTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0138 a0004c0006t0138	a0004c0006t0138g0129 a0004c0006t0138g0129	1	358	0.0028	17	c.-17 others(28): Show c.-1792_-1791insAAAAAAAAAAAAGAAAG		COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding					1605		chr18	TogoVar
COLEC12_chr18_311737_505701	502328	T T	TTTTTTTT others(10): Show TTTTTTTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG02257.hp2 HG02717.hp2 HG01515.hp2 HG02257.hp2 HG02717.hp2	a0004 a0010 a0004 a0010	a0004c0006 a0010c0024 a0004c0006 a0010c0024	a0004c0006t0167 a0004c0006t0207 a0010c0024t0144 a0004c0006t0167 a0004c0006t0207 a0010c0024t0144	a0004c0006t0167g0341 a0004c0006t0207g0338 a0010c0024t0144g0143 a0004c0006t0167g0341 a0004c0006t0207g0338 a0010c0024t0144g0143	3	354	0.0085	17	c.-18 others(28): Show c.-1815_-1814insGAAAGAAAGAAAAAAAA		COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding					1628		chr18	TogoVar
COLGALT1_chr19_17550649_17588157	17559602	C C	CAACCTTC others(10): Show CAACCTTCCACCTTTCCT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0052 a0001c0002t0002g0052	1	394	0.0025	17	c.371 others(32): Show c.371+182_371+183insACCTTCCACCTTTCCTA		COLGALT1	ENSG00000130309.12	transcript	ENST00000252599.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
COLGALT2_chr1_183930834_184042728	183977812	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp2 NA18961.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0004 a0001c0016t0040 a0001c0001t0004 a0001c0016t0040	a0001c0001t0004g0077 a0001c0016t0040g0274 a0001c0001t0004g0077 a0001c0016t0040g0274	2	228	0.0088	17	c.374 others(32): Show c.374+597_374+598insCTCTCTCTCTCTCTCTC		COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11						chr1	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	104	0.0096	17	c.31 others(28): Show c.3119_*3120insAAAAAAAAAAAAAAAAT		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding					2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	104	0.0096	17	c.31 others(28): Show c.3119_*3120insAAAAAAAAAAAAATAAT		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding					2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(10): Show AAAAAAAAAAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 NA21309.hp1 HG02071.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0016 a0002c0003t0001g0060 a0002c0003t0001g0016 a0002c0003t0001g0060	2	105	0.0190	17	c.31 others(28): Show c.3119_*3120insAAAAAAAAAATAATAAT		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding					2322		chr5	TogoVar
COMMD1_chr2_61900674_62141058	62014542	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp1 HG03195.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0265 a0001c0003t0001g0270 a0001c0001t0003g0265 a0001c0003t0001g0270	2	4	0.5000	17	c.462 others(36): Show c.462+13581_462+13597dupTTTTTTTTTTTTTTTTT		COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD4_chr15_75331063_75345273	75336566	T T	TATCCATC others(10): Show TATCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	428	0.0023	17	c.3+4 others(28): Show c.3+487_3+503dupATCCAATCCATCCATCC		COMMD4	ENSG00000140365.16	transcript	ENST00000267935.13	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr15	TogoVar
COMMD7_chr20_32697699_32748467	32737379	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01358.hp2 HG02027.hp1 others(34): Show HG00741.hp2 HG01358.hp2 HG02027.hp1 HG02056.hp2 HG02148.hp2 HG02280.hp2 HG02451.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp1 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp1 NA18522.hp2 NA18612.hp2 NA18943.hp1 NA18950.hp1 NA18967.hp1 NA18970.hp1 NA18979.hp1 NA18981.hp2 NA18989.hp2 NA19030.hp1 NA19043.hp1 NA19058.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 others(28): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0275 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0322 a0001c0001t0001g0339 a0001c0001t0001g0349 a0001c0001t0001g0360 a0001c0001t0002g0123 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0358 a0001c0001t0004g0024 a0001c0001t0004g0287	37	209	0.1770	17	c.84+ others(32): Show c.84+5928_84+5929insCTTTTTTTTTTTTTTTT		COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	1/8						chr20	TogoVar
COMMD8_chr4_47445787_47468702	47447407	A A	ACACACAC others(10): Show ACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 NA19055.hp1 NA19081.hp2 HG00735.hp2 NA19055.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0067 a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0067	3	388	0.0077	17	c.42 others(28): Show c.4237_*4238insGTGTGTGTGTGTGTGTG		COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding					3379		chr4	TogoVar
COP1_chr1_175939831_176212286	175949168	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02809.hp1 HG03139.hp1 others(3): Show HG01074.hp1 HG02809.hp1 HG03139.hp1 HG03225.hp2 HG03540.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0011 a0001c0002t0002g0014 others(3): Show a0001c0002t0002g0003 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0017 a0001c0002t0002g0020	6	26	0.2308	17	c.213 others(36): Show c.2134-1946_2134-1930dupTTTTTTTTTTTTTTTTT		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19						chr1	TogoVar
COPB1_chr11_14452512_14504811	14454637	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp2 others(62): Show HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00544.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02165.hp1 HG02622.hp1 HG02886.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18944.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18955.hp1 NA18967.hp1 NA18970.hp2 NA18972.hp2 NA18995.hp2 NA19000.hp2 NA19012.hp1 NA19056.hp2 NA19060.hp2 NA19070.hp1 NA19072.hp1 NA19076.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 others(58): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351	65	160	0.4063	17	c.31 others(28): Show c.3186_*3187insTTTTTTTTTTTTTTTTT		COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding					2874		chr11	TogoVar
COPB1_chr11_14452512_14504811	14477389	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp2 others(54): Show HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01433.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02129.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp2 HG03017.hp2 HG03239.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18954.hp1 NA18963.hp1 NA18967.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19068.hp2 NA19085.hp1 NA19086.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(50): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0106 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0344	57	66	0.8636	17	c.135 others(34): Show c.1359-375_1359-374insTTTTTTTTTTTTTTTTT		COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	11/21						chr11	TogoVar

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