Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL4A4_chr2_226997714_227169205	227041787	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGGGAAA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	284	0.0035	20	c.350 others(37): Show c.3505+360_3505+361insTTTCCCTTCCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041787	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0275 a0001c0010t0005g0275	1	284	0.0035	20	c.350 others(37): Show c.3505+360_3505+361insTTTCTTTCCCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045865	C C	CATATATA others(13): Show CATATATATACATATATATGT	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0141 a0001c0001t0021g0141	1	284	0.0035	20	c.328 others(39): Show c.3289+1590_3289+1609dupACATATATATGTATATATAT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089588	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0003 a0011c0011t0003	a0011c0011t0003g0231 a0011c0011t0003g0231	1	284	0.0035	20	c.145 others(37): Show c.1459+260_1459+279dupATATATATATATATATATAT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18943.hp1 NA20805.hp1 HG03540.hp2 NA18943.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0251 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0251	3	269	0.0112	20	c.81+ others(37): Show c.81+33428_81+33429insATATATATATATATATTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343165	A A	ATATAGTG others(13): Show ATATAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0036 a0001c0009t0003g0036	1	234	0.0043	20	c.64- others(37): Show c.64-32338_64-32337insACACACACACACACACTATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL5A1_chr9_134636803_134849843	134636871	A A	AGTCCCCT others(13): Show AGTCCCCTCTCACTGGCCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02896.hp2 others(2): Show HG01891.hp1 HG02280.hp1 HG02896.hp2 HG02897.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0034 others(1): Show a0001c0003 a0001c0010 a0001c0034 a0001c0047	a0001c0003t0025 a0001c0010t0026 a0001c0034t0006 others(1): Show a0001c0003t0025 a0001c0010t0026 a0001c0034t0006 a0001c0047t0057	a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0010t0026g0049 others(2): Show a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0010t0026g0049 a0001c0034t0006g0048 a0001c0047t0057g0042	5	272	0.0184	20	c.-53 others(31): Show c.-5317_-5316insGTCCCCTCTCACTGGCCAGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4931		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134668986	T T	TCCATCCA others(13): Show TCCATCCATCCATCCATCCAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0255 a0001c0003t0003g0255	1	272	0.0037	20	c.110 others(39): Show c.110-21923_110-21922insTCCATCCATCCATCCACCCA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134669235	T T	TCCTTCCC others(13): Show TCCTTCCCTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02970.hp2 HG03927.hp1 others(7): Show HG01071.hp1 HG02970.hp2 HG03927.hp1 HG04115.hp1 HG04204.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18998.hp1 NA18998.hp2	a0001 a0014 a0018 others(1): Show a0001 a0014 a0018 a0019	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0014c0059 a0018c0032 a0019c0050	a0001c0001t0002 a0001c0001t0024 a0001c0003t0002 others(6): Show a0001c0001t0002 a0001c0001t0024 a0001c0003t0002 a0001c0004t0004 a0001c0005t0022 a0001c0008t0001 a0014c0059t0002 a0018c0032t0002 a0019c0050t0024	a0001c0001t0002g0139 a0001c0001t0024g0217 a0001c0003t0002g0142 others(7): Show a0001c0001t0002g0139 a0001c0001t0024g0217 a0001c0003t0002g0142 a0001c0003t0002g0246 a0001c0004t0004g0089 a0001c0005t0022g0085 a0001c0008t0001g0149 a0014c0059t0002g0141 a0018c0032t0002g0161 a0019c0050t0024g0216	10	272	0.0368	20	c.110 others(39): Show c.110-21638_110-21619dupTCCCTTCCCTTCCCTTCCCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134669236	C C	CCTTCCCT others(13): Show CCTTCCCTTCCCTTCCCTTCT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0005 a0005	a0005c0028 a0005c0028	a0005c0028t0002 a0005c0028t0002	a0005c0028t0002g0097 a0005c0028t0002g0097	1	272	0.0037	20	c.110 others(39): Show c.110-21657_110-21656insTCTTCCCTTCCCTTCCCTTC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189059585	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18978.hp1 NA19006.hp2 others(1): Show NA18906.hp2 NA18978.hp1 NA19006.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0118 a0001c0001t0001g0158 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0118 a0001c0001t0001g0158 a0001c0001t0001g0233	4	248	0.0161	20	c.208 others(37): Show c.2086-712_2086-693dupAAAAAAAAAAAAAAAAAAAA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	31/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18612.hp2 NA19002.hp2 HG03834.hp2 NA18612.hp2 NA19002.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0022 a0001c0001 a0014c0022	a0001c0001t0001 a0014c0022t0002 a0001c0001t0001 a0014c0022t0002	a0001c0001t0001g0122 a0001c0001t0001g0137 a0014c0022t0002g0035 a0001c0001t0001g0122 a0001c0001t0001g0137 a0014c0022t0002g0035	3	248	0.0121	20	c.457 others(37): Show c.457-2188_457-2169dupGTGTGTGTGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9977947	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02717.hp2 HG02896.hp2 HG02280.hp1 HG02717.hp2 HG02896.hp2	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0007 a0007c0021t0011 a0007c0021t0007 a0007c0021t0011	a0007c0021t0007g0288 a0007c0021t0007g0289 a0007c0021t0011g0117 a0007c0021t0007g0288 a0007c0021t0007g0289 a0007c0021t0011g0117	3	412	0.0073	20	c.301 others(37): Show c.3019-266_3019-247dupATATATATATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	41/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAAAAAA others(13): Show AAAAAAAAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03516.hp1 HG02630.hp1 HG03516.hp1	a0026 a0026	a0026c0053 a0026c0053	a0026c0053t0013 a0026c0053t0013	a0026c0053t0013g0004 a0026c0053t0013g0005 a0026c0053t0013g0004 a0026c0053t0013g0005	2	412	0.0049	20	c.214 others(37): Show c.2145+268_2145+269insCTTTCTCTCTCTCTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAAAAGA others(13): Show AAAAAAGAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01952.hp2 HG03225.hp1 others(3): Show HG01891.hp1 HG01952.hp2 HG03225.hp1 NA18906.hp2 NA18964.hp1 NA18969.hp1	a0002 a0015 a0018 a0002 a0015 a0018	a0002c0002 a0002c0034 a0015c0063 others(2): Show a0002c0002 a0002c0034 a0015c0063 a0018c0026 a0018c0126	a0002c0002t0002 a0002c0034t0002 a0015c0063t0001 others(2): Show a0002c0002t0002 a0002c0034t0002 a0015c0063t0001 a0018c0026t0002 a0018c0126t0002	a0002c0002t0002g0218 a0002c0034t0002g0163 a0015c0063t0001g0180 others(3): Show a0002c0002t0002g0218 a0002c0034t0002g0163 a0015c0063t0001g0180 a0018c0026t0002g0392 a0018c0026t0002g0402 a0018c0126t0002g0400	6	412	0.0146	20	c.214 others(37): Show c.2145+268_2145+269insCTTTCTCTCTCTCTCTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL6A2_chr21_46093112_46134801	46118564	C C	CCCCCTTC others(13): Show CCCCCTTCCCCTGCCAAAAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0005 a0002c0008t0005	a0002c0008t0005g0029 a0002c0008t0005g0029	1	372	0.0027	20	c.111 others(35): Show c.1117-48_1117-29dupCCCTTCCCCTGCCAAAAGAC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46118564	C C	CCCCCTTC others(13): Show CCCCCTTCCCCTGCCAAAAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0030 a0002c0012t0001g0030	1	364	0.0028	20	c.111 others(35): Show c.1117-48_1117-29dupCCCTTCCCCTGCCAAAAGAC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332070	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19055.hp1 NA18971.hp2 NA19055.hp1	a0002 a0002	a0002c0001 a0002c0022 a0002c0001 a0002c0022	a0002c0001t0009 a0002c0022t0002 a0002c0001t0009 a0002c0022t0002	a0002c0001t0009g0004 a0002c0022t0002g0128 a0002c0001t0009g0004 a0002c0022t0002g0128	2	322	0.0062	20	c.932 others(39): Show c.9328+1360_9328+1379dupATATATATATATATATATAT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03098.hp1 NA18986.hp2 others(1): Show HG02074.hp2 HG03098.hp1 NA18986.hp2 NA18989.hp2	a0003 a0004 a0052 a0003 a0004 a0052	a0003c0005 a0004c0006 a0052c0139 a0003c0005 a0004c0006 a0052c0139	a0003c0005t0002 a0004c0006t0002 a0052c0139t0001 a0003c0005t0002 a0004c0006t0002 a0052c0139t0001	a0003c0005t0002g0077 a0003c0005t0002g0080 a0004c0006t0002g0041 others(1): Show a0003c0005t0002g0077 a0003c0005t0002g0080 a0004c0006t0002g0041 a0052c0139t0001g0166	4	322	0.0124	20	c.932 others(39): Show c.9328+1332_9328+1333insCATATATATATATATATATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATAT others(13): Show ATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0004 a0004	a0004c0113 a0004c0113	a0004c0113t0002 a0004c0113t0002	a0004c0113t0002g0226 a0004c0113t0002g0226	1	322	0.0031	20	c.932 others(39): Show c.9328+1332_9328+1333insCACATATATATATATATATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237397406	G G	GGAGAGAA others(13): Show GGAGAGAAGGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0065 a0004c0003t0003g0065	1	322	0.0031	20	c.-30 others(35): Show c.-30-579_-30-560dupTTTCTTTCTTTCCTTCTCTC	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	1/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362252	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp1 others(68): Show HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02155.hp1 HG02258.hp2 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02896.hp1 HG03098.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 NA18950.hp2 NA18954.hp1 NA18972.hp1 NA18975.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19010.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0002 a0003 a0004 others(29): Show a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0013 a0014 a0015 a0016 a0018 a0020 a0024 a0025 a0028 a0030 a0032 a0043 a0044 a0052 a0054 a0062 a0065 a0070 a0074 a0080 a0084 a0086 a0089 a0090 a0091	a0002c0002 a0002c0034 a0003c0004 others(31): Show a0002c0002 a0002c0034 a0003c0004 a0003c0025 a0004c0003 a0005c0006 a0006c0005 a0008c0010 a0009c0007 a0013c0016 a0014c0013 a0015c0015 a0016c0017 a0018c0018 a0020c0039 a0024c0022 a0025c0097 a0028c0028 a0030c0027 a0032c0029 a0043c0058 a0044c0069 a0052c0049 a0054c0057 a0062c0059 a0065c0055 a0070c0067 a0074c0052 a0080c0054 a0084c0050 a0086c0048 a0089c0051 a0090c0045 a0091c0065	a0002c0002t0001 a0002c0034t0001 a0003c0004t0001 others(32): Show a0002c0002t0001 a0002c0034t0001 a0003c0004t0001 a0003c0025t0001 a0004c0003t0001 a0005c0006t0008 a0006c0005t0001 a0008c0010t0001 a0009c0007t0001 a0013c0016t0001 a0014c0013t0001 a0015c0015t0001 a0015c0015t0002 a0016c0017t0001 a0018c0018t0001 a0020c0039t0001 a0024c0022t0001 a0025c0097t0001 a0028c0028t0001 a0030c0027t0001 a0032c0029t0001 a0043c0058t0001 a0044c0069t0001 a0052c0049t0001 a0054c0057t0008 a0062c0059t0001 a0065c0055t0001 a0070c0067t0001 a0074c0052t0003 a0080c0054t0001 a0084c0050t0001 a0086c0048t0001 a0089c0051t0001 a0090c0045t0001 a0091c0065t0001	a0002c0002t0001g0004 a0002c0002t0001g0103 a0002c0002t0001g0121 others(65): Show a0002c0002t0001g0004 a0002c0002t0001g0103 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0150 a0002c0002t0001g0211 a0002c0034t0001g0154 a0003c0004t0001g0018 a0003c0004t0001g0019 a0003c0004t0001g0093 a0003c0004t0001g0147 a0003c0004t0001g0151 a0003c0004t0001g0155 a0003c0025t0001g0124 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0138 a0005c0006t0008g0188 a0006c0005t0001g0021 a0008c0010t0001g0119 a0008c0010t0001g0141 a0008c0010t0001g0142 a0008c0010t0001g0149 a0009c0007t0001g0136 a0009c0007t0001g0140 a0013c0016t0001g0144 a0014c0013t0001g0098 a0014c0013t0001g0115 a0014c0013t0001g0143 a0014c0013t0001g0145 a0014c0013t0001g0146 a0014c0013t0001g0148 a0015c0015t0001g0005 a0015c0015t0001g0125 a0015c0015t0002g0226 a0016c0017t0001g0153 a0018c0018t0001g0158 a0020c0039t0001g0122 a0020c0039t0001g0139 a0024c0022t0001g0152 a0024c0022t0001g0156 a0024c0022t0001g0157 a0025c0097t0001g0135 a0028c0028t0001g0099 a0028c0028t0001g0104 a0030c0027t0001g0006 a0032c0029t0001g0117 a0032c0029t0001g0120 a0043c0058t0001g0024 a0044c0069t0001g0134 a0052c0049t0001g0126 a0054c0057t0008g0187 a0062c0059t0001g0210 a0065c0055t0001g0116 a0070c0067t0001g0159 a0074c0052t0003g0011 a0080c0054t0001g0160 a0084c0050t0001g0132 a0086c0048t0001g0025 a0089c0051t0001g0137 a0090c0045t0001g0118 a0091c0065t0001g0161	71	292	0.2432	20	c.-28 others(39): Show c.-28-11340_-28-11339insCTCTCTCTCTCTCTCTCTCT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362252	T T	TTCTCTCT others(13): Show TTCTCTCTTTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20129.hp1 HG02818.hp1 NA20129.hp1	a0036 a0036	a0036c0041 a0036c0041	a0036c0041t0001 a0036c0041t0001	a0036c0041t0001g0177 a0036c0041t0001g0178 a0036c0041t0001g0177 a0036c0041t0001g0178	2	292	0.0069	20	c.-28 others(39): Show c.-28-11352_-28-11351insTTCTCTCTCTCTCTCTCTCT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130472832	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01169.hp1 others(16): Show HG00639.hp2 HG00738.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01361.hp1 HG01891.hp1 HG01943.hp1 HG02523.hp1 HG02809.hp2 HG02896.hp1 HG02970.hp1 HG03710.hp1 HG06807.hp2 NA18980.hp2 NA18990.hp2 NA18992.hp1 NA19081.hp1 NA19083.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0008 a0009 a0018 a0021 a0038 a0087	a0001c0001 a0002c0002 a0003c0004 others(9): Show a0001c0001 a0002c0002 a0003c0004 a0003c0025 a0003c0079 a0004c0003 a0008c0026 a0009c0007 a0018c0018 a0021c0021 a0038c0036 a0087c0056	a0001c0001t0002 a0002c0002t0001 a0003c0004t0001 others(10): Show a0001c0001t0002 a0002c0002t0001 a0003c0004t0001 a0003c0025t0001 a0003c0079t0001 a0004c0003t0001 a0008c0026t0009 a0009c0007t0001 a0009c0007t0009 a0018c0018t0005 a0021c0021t0006 a0038c0036t0003 a0087c0056t0001	a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0258 others(15): Show a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0258 a0002c0002t0001g0172 a0002c0002t0001g0211 a0003c0004t0001g0155 a0003c0025t0001g0124 a0003c0079t0001g0107 a0004c0003t0001g0028 a0004c0003t0001g0207 a0008c0026t0009g0164 a0009c0007t0001g0140 a0009c0007t0009g0162 a0018c0018t0005g0055 a0021c0021t0006g0002 a0038c0036t0003g0075 a0038c0036t0003g0077 a0087c0056t0001g0114	19	292	0.0651	20	c.781 others(37): Show c.7819+914_7819+933dupTATATATATATATATATATA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130472858	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0089 a0089	a0089c0051 a0089c0051	a0089c0051t0001 a0089c0051t0001	a0089c0051t0001g0137 a0089c0051t0001g0137	1	292	0.0034	20	c.781 others(37): Show c.7819+933_7819+934insTATATATATATATATATACA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(13): Show TATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	262	0.0038	20	c.-12 others(41): Show c.-129+30483_-129+30484insTATATATATATATATATAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773835	A A	ATTATATA others(13): Show ATTATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	262	0.0038	20	c.-3- others(37): Show c.-3-16844_-3-16843insTATATATATATATATATTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19074.hp2 HG01109.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0204 a0001c0001t0004g0070 a0001c0001t0004g0204	2	262	0.0076	20	c.-3- others(37): Show c.-3-16842_-3-16841insATATATATATATATATATTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	262	0.0038	20	c.-3- others(37): Show c.-3-16842_-3-16841insATATATATATATATATTTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0254 a0001c0004t0004g0254	1	262	0.0038	20	c.-3- others(37): Show c.-3-16842_-3-16841insATATATATATATATTTTTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0274 a0002c0004t0004g0274	1	362	0.0028	20	c.250 others(39): Show c.2504-1435_2504-1416dupTTTTTTTTTTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40321123	T T	TTATATAT others(13): Show TTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp2 HG01258.hp1 HG01258.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0016 a0002c0001t0001g0003 a0002c0001t0001g0016	2	438	0.0046	20	c.-39 others(31): Show c.-3927_-3926insTATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3838		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321158	T T	TATATATA others(13): Show TATATATATATATATATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02074.hp1 HG02155.hp2 others(2): Show HG00544.hp2 HG02074.hp1 HG02155.hp2 NA18990.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0090 others(1): Show a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0090 a0001c0002t0001g0096	5	438	0.0114	20	c.-39 others(31): Show c.-3962_-3961insTTTTATATATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3873		chr1	TogoVar
COL9A3_chr20_62812050_62846159	62830680	C C	CACAGTCC others(13): Show CACAGTCCCCCAACCCCCATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp1 HG02109.hp2 HG02809.hp1	a0001 a0021 a0001 a0021	a0001c0010 a0021c0089 a0001c0010 a0021c0089	a0001c0010t0004 a0021c0089t0001 a0001c0010t0004 a0021c0089t0001	a0001c0010t0004g0246 a0021c0089t0001g0337 a0001c0010t0004g0246 a0021c0089t0001g0337	2	412	0.0049	20	c.128 others(37): Show c.1287+108_1287+109insCATGACAGTCCCCCAACCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62830700	C C	GACAGTCC others(13): Show GACAGTCCCCCAACCCCCACC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	412	0.0024	20	c.128 others(37): Show c.1287+111_1287+112insGACAGTCCCCCAACCCCCAC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31			chr20	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	388	0.0026	20	c.148 others(37): Show c.148+2201_148+2202insAAAAAAAATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19070.hp2 NA19082.hp1 others(1): Show NA19002.hp1 NA19070.hp2 NA19082.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0247 a0001c0001t0002g0248 others(1): Show a0001c0001t0002g0111 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249	4	388	0.0103	20	c.148 others(37): Show c.148+2201_148+2202insAAAAAATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091595	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18948.hp2 NA18951.hp2 others(5): Show HG02165.hp2 NA18948.hp2 NA18951.hp2 NA18965.hp2 NA19003.hp2 NA19063.hp2 NA19070.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0005 a0001c0001t0003g0020 a0001c0001t0003g0033 others(4): Show a0001c0001t0003g0005 a0001c0001t0003g0020 a0001c0001t0003g0033 a0001c0001t0003g0042 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0011g0040	8	388	0.0206	20	c.292 others(35): Show c.292+378_292+379insGAGAGAGAAAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATATATA others(13): Show GATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG03927.hp2 HG04184.hp2 HG01358.hp2 HG03927.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0002c0007 a0001c0004 a0001c0005 a0002c0007	a0001c0004t0005 a0001c0005t0016 a0002c0007t0176 a0001c0004t0005 a0001c0005t0016 a0002c0007t0176	a0001c0004t0005g0223 a0001c0005t0016g0141 a0002c0007t0176g0353 a0001c0004t0005g0223 a0001c0005t0016g0141 a0002c0007t0176g0353	3	366	0.0082	20	c.78 others(31): Show c.7837_*7838insATATATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COLEC12_chr18_311737_505701	319333	A A	AATATATA others(13): Show AATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0109 a0003c0002t0109	a0003c0002t0109g0090 a0003c0002t0109g0090	1	366	0.0027	20	c.71 others(29): Show c.711_*712insATATATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	711		chr18	TogoVar
COLEC12_chr18_311737_505701	502327	C C	CTTTTTTT others(13): Show CTTTTTTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02886.hp2 HG02622.hp2 HG02886.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0013 a0001c0005 a0003c0013	a0001c0005t0255 a0003c0013t0190 a0001c0005t0255 a0003c0013t0190	a0001c0005t0255g0358 a0003c0013t0190g0330 a0001c0005t0255g0358 a0003c0013t0190g0330	2	366	0.0055	20	c.-18 others(31): Show c.-1814_-1813insAAAGAAAGAAAGAAAAAAAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1627		chr18	TogoVar
COLGALT2_chr1_183930834_184042728	183977812	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03490.hp1 HG03669.hp1 others(11): Show HG00621.hp2 HG03490.hp1 HG03669.hp1 HG03834.hp2 NA18952.hp1 NA18973.hp2 NA18977.hp2 NA18992.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19012.hp2 NA19074.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0002t0006	a0001c0001t0001g0120 a0001c0001t0001g0174 a0001c0001t0001g0292 others(11): Show a0001c0001t0001g0120 a0001c0001t0001g0174 a0001c0001t0001g0292 a0001c0001t0001g0298 a0001c0001t0003g0136 a0001c0001t0004g0056 a0001c0001t0004g0078 a0001c0001t0005g0218 a0001c0001t0007g0173 a0001c0001t0008g0057 a0001c0001t0008g0070 a0001c0001t0011g0030 a0001c0002t0006g0027 a0001c0002t0006g0082	14	340	0.0412	20	c.374 others(35): Show c.374+578_374+597dupCTCTCTCTCTCTCTCTCTCT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	184031817	A A	ATCCTTCC others(13): Show ATCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19240.hp2 HG02630.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0204 a0001c0001t0012g0313 a0001c0001t0009g0204 a0001c0001t0012g0313	2	340	0.0059	20	c.263 others(37): Show c.263+5258_263+5277dupAGGAAGGAAGGAAGGAAGGA	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	1/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	184037754	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01192.hp2 HG01243.hp2 HG00597.hp2 HG01192.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0141	3	340	0.0088	20	c.-39 others(29): Show c.-398_-397insACACACACACACACACACAC	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding		27		chr1	TogoVar
COLQ_chr3_15445133_15526706	15510858	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18972.hp1 NA18999.hp2 HG00544.hp2 NA18972.hp1 NA18999.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0004c0006t0004 a0001c0001t0002 a0004c0006t0004	a0001c0001t0002g0245 a0004c0006t0004g0244 a0004c0006t0004g0246 a0001c0001t0002g0245 a0004c0006t0004g0244 a0004c0006t0004g0246	3	382	0.0079	20	c.106 others(39): Show c.106+10642_106+10661dupCTTCCTTCCTTCCTTCCTTC	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	1/16			chr3	TogoVar
COMMD10_chr5_116080025_116298287	116140231	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02896.hp2 others(1): Show HG02622.hp2 HG02895.hp1 HG02896.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0334 others(1): Show a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0334 a0001c0001t0001g0336	4	350	0.0114	20	c.510 others(37): Show c.510+6059_510+6078dupGTGTGTGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158496	C C	CTCCGTCT others(13): Show CTCCGTCTCCTCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02258.hp1 HG01884.hp1 HG02055.hp2 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0034 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0034	3	350	0.0086	20	c.510 others(39): Show c.510+24318_510+24319insTCCGTCTCCTCTCTCCCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212496	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG01255.hp2 others(16): Show HG00423.hp2 HG00544.hp2 HG01255.hp2 HG02132.hp1 HG02148.hp2 HG02258.hp1 HG02300.hp1 HG02698.hp2 HG03486.hp2 NA18906.hp2 NA18939.hp1 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18977.hp1 NA19002.hp2 NA19054.hp2 NA19068.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0002c0003t0001 a0001c0001t0001 a0001c0001t0005 a0002c0003t0001	a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0273 others(16): Show a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0005g0194 a0002c0003t0001g0017 a0002c0003t0001g0034 a0002c0003t0001g0035	19	350	0.0543	20	c.510 others(39): Show c.510+78326_510+78345dupGTGTGTGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212522	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02735.hp1 HG03710.hp2 others(1): Show HG00099.hp1 HG02735.hp1 HG03710.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0234 a0001c0001t0001g0260 a0001c0002t0001g0185 others(1): Show a0001c0001t0001g0234 a0001c0001t0001g0260 a0001c0002t0001g0185 a0001c0002t0001g0189	4	350	0.0114	20	c.510 others(39): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	62019023	T T	TTCCCTCC others(13): Show TTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02572.hp2 others(13): Show HG02109.hp2 HG02451.hp1 HG02572.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 NA18522.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0002g0224 others(13): Show a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0003g0261	16	286	0.0559	20	c.462 others(39): Show c.462+18045_462+18064dupCTCCCTCCCTCCCTCCCTCC	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar

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