Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PATJ_chr1_61737480_62168915	61886819	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0007 a0007	a0007c0124 a0007c0124	a0007c0124t0001 a0007c0124t0001	a0007c0124t0001g0003 a0007c0124t0001g0003	1	158	0.0063	20	c.313 others(39): Show c.3131+2423_3131+2424insAAAAAAAAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	22/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61910866	T T	TGAGTGAG others(13): Show TGAGTGAGGCAAATGAAAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0006 a0006	a0006c0114 a0006c0114	a0006c0114t0002 a0006c0114t0002	a0006c0114t0002g0157 a0006c0114t0002g0157	1	158	0.0063	20	c.349 others(39): Show c.3492+2387_3492+2406dupGTGAGGCAAATGAAAGGAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61952253	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01192.hp1 HG02145.hp2 others(2): Show HG01070.hp1 HG01192.hp1 HG02145.hp2 HG02647.hp1 HG02717.hp2	a0001 a0002 a0039 a0001 a0002 a0039	a0001c0008 a0001c0046 a0001c0047 others(2): Show a0001c0008 a0001c0046 a0001c0047 a0002c0030 a0039c0109	a0001c0008t0016 a0001c0046t0016 a0001c0047t0035 others(2): Show a0001c0008t0016 a0001c0046t0016 a0001c0047t0035 a0002c0030t0005 a0039c0109t0001	a0001c0008t0016g0047 a0001c0046t0016g0106 a0001c0047t0035g0126 others(2): Show a0001c0008t0016g0047 a0001c0046t0016g0106 a0001c0047t0035g0126 a0002c0030t0005g0121 a0039c0109t0001g0133	5	158	0.0317	20	c.367 others(41): Show c.3670+24431_3670+24450dupGAGAGAGAGAGAGAGAGAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62028964	A A	AATACATA others(13): Show AATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01099.hp2 others(7): Show HG00140.hp1 HG00642.hp2 HG01099.hp2 HG01934.hp1 HG02109.hp1 HG02145.hp2 HG03579.hp1 HG03669.hp1 HG03710.hp1 NA19060.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0011 a0018 a0023	a0002c0030 a0003c0055 a0004c0011 others(6): Show a0002c0030 a0003c0055 a0004c0011 a0005c0006 a0005c0050 a0005c0107 a0011c0015 a0018c0010 a0023c0120	a0002c0030t0005 a0003c0055t0004 a0004c0011t0001 others(6): Show a0002c0030t0005 a0003c0055t0004 a0004c0011t0001 a0005c0006t0001 a0005c0050t0026 a0005c0107t0003 a0011c0015t0002 a0018c0010t0004 a0023c0120t0012	a0002c0030t0005g0121 a0003c0055t0004g0087 a0004c0011t0001g0152 others(7): Show a0002c0030t0005g0121 a0003c0055t0004g0087 a0004c0011t0001g0152 a0005c0006t0001g0044 a0005c0050t0026g0082 a0005c0107t0003g0033 a0011c0015t0002g0023 a0018c0010t0004g0034 a0018c0010t0004g0037 a0023c0120t0012g0061	10	158	0.0633	20	c.396 others(39): Show c.3960-8999_3960-8980dupTACATACATACATACATACA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	29/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62028994	T T	TACATACA others(13): Show TACATACATACATACATACAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0020 a0020	a0020c0128 a0020c0128	a0020c0128t0001 a0020c0128t0001	a0020c0128t0001g0020 a0020c0128t0001g0020	1	158	0.0063	20	c.396 others(39): Show c.3960-8980_3960-8979insTACATACATACATACACACA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	29/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62036871	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02615.hp1 HG01192.hp2 HG02615.hp1	a0007 a0043 a0007 a0043	a0007c0124 a0043c0060 a0007c0124 a0043c0060	a0007c0124t0001 a0043c0060t0001 a0007c0124t0001 a0043c0060t0001	a0007c0124t0001g0003 a0043c0060t0001g0128 a0007c0124t0001g0003 a0043c0060t0001g0128	2	158	0.0127	20	c.396 others(39): Show c.3960-1096_3960-1095insAAAAAAAAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	29/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62062392	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp1 HG04204.hp1 HG02647.hp1 HG02922.hp1 HG04204.hp1	a0001 a0052 a0062 a0001 a0052 a0062	a0001c0047 a0052c0111 a0062c0080 a0001c0047 a0052c0111 a0062c0080	a0001c0047t0035 a0052c0111t0021 a0062c0080t0003 a0001c0047t0035 a0052c0111t0021 a0062c0080t0003	a0001c0047t0035g0126 a0052c0111t0021g0073 a0062c0080t0003g0032 a0001c0047t0035g0126 a0052c0111t0021g0073 a0062c0080t0003g0032	3	158	0.0190	20	c.412 others(41): Show c.4125+11342_4125+11361dupTTTTTTTTTTTTTTTTTTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	31/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62086228	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG03516.hp1 others(2): Show HG02559.hp1 HG02809.hp2 HG03516.hp1 HG06807.hp2 NA20129.hp2	a0001 a0016 a0020 others(2): Show a0001 a0016 a0020 a0034 a0053	a0001c0026 a0016c0036 a0020c0127 others(2): Show a0001c0026 a0016c0036 a0020c0127 a0034c0090 a0053c0067	a0001c0026t0001 a0016c0036t0028 a0020c0127t0008 others(2): Show a0001c0026t0001 a0016c0036t0028 a0020c0127t0008 a0034c0090t0008 a0053c0067t0003	a0001c0026t0001g0116 a0016c0036t0028g0145 a0020c0127t0008g0024 others(2): Show a0001c0026t0001g0116 a0016c0036t0028g0145 a0020c0127t0008g0024 a0034c0090t0008g0018 a0053c0067t0003g0110	5	158	0.0317	20	c.437 others(39): Show c.4377+1595_4377+1596insGTGTGTGTGTGTGTGTGTGT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62092726	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0009 a0009	a0009c0097 a0009c0097	a0009c0097t0034 a0009c0097t0034	a0009c0097t0034g0052 a0009c0097t0034g0052	1	158	0.0063	20	c.437 others(39): Show c.4377+8082_4377+8101dupATTTATTTATTTATTTATTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62099347	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20129.hp1 HG02922.hp2 NA20129.hp1	a0001 a0048 a0001 a0048	a0001c0021 a0048c0063 a0001c0021 a0048c0063	a0001c0021t0001 a0048c0063t0027 a0001c0021t0001 a0048c0063t0027	a0001c0021t0001g0113 a0048c0063t0027g0100 a0001c0021t0001g0113 a0048c0063t0027g0100	2	158	0.0127	20	c.437 others(39): Show c.4378-9079_4378-9060dupTTTTTTTTTTTTTTTTTTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106154	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp2 HG02922.hp2 HG03041.hp2	a0001 a0036 a0001 a0036	a0001c0021 a0036c0019 a0001c0021 a0036c0019	a0001c0021t0001 a0036c0019t0001 a0001c0021t0001 a0036c0019t0001	a0001c0021t0001g0113 a0036c0019t0001g0141 a0001c0021t0001g0113 a0036c0019t0001g0141	2	158	0.0127	20	c.437 others(39): Show c.4378-2282_4378-2281insATATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106156	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0003 a0008c0016t0003	a0008c0016t0003g0153 a0008c0016t0003g0153	1	158	0.0063	20	c.437 others(39): Show c.4378-2280_4378-2279insATATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106158	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03516.hp2 HG02602.hp1 HG03516.hp2	a0001 a0060 a0001 a0060	a0001c0088 a0060c0077 a0001c0088 a0060c0077	a0001c0088t0010 a0060c0077t0032 a0001c0088t0010 a0060c0077t0032	a0001c0088t0010g0016 a0060c0077t0032g0049 a0001c0088t0010g0016 a0060c0077t0032g0049	2	158	0.0127	20	c.437 others(39): Show c.4378-2269_4378-2250dupATATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106158	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01975.hp1 HG00642.hp2 HG01975.hp1	a0004 a0023 a0004 a0023	a0004c0101 a0023c0120 a0004c0101 a0023c0120	a0004c0101t0017 a0023c0120t0012 a0004c0101t0017 a0023c0120t0012	a0004c0101t0017g0098 a0023c0120t0012g0061 a0004c0101t0017g0098 a0023c0120t0012g0061	2	158	0.0127	20	c.437 others(39): Show c.4378-2278_4378-2277insGTGTGTATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106158	G G	GTGTGTGT others(13): Show GTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0052 a0052	a0052c0111 a0052c0111	a0052c0111t0021 a0052c0111t0021	a0052c0111t0021g0073 a0052c0111t0021g0073	1	158	0.0063	20	c.437 others(39): Show c.4378-2278_4378-2277insGTGTGTGTATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATL1_chr11_59631716_59674037	59632792	A A	ATATATAT others(13): Show ATATATATCTATATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03540.hp1 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0195 a0001c0001t0001g0051 a0001c0001t0001g0195	2	276	0.0073	20	c.55 others(31): Show c.5597_*5598insGATATATATATAGATATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		3923		chr11	TogoVar
PAWR_chr12_79579879_79695964	79632324	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	256	0.0039	20	c.517 others(39): Show c.517-11118_517-11117insGTATATATATATATATATAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX1_chr20_21700664_21723481	21721352	G G	GTATGTAT others(13): Show GTATGTATATATATATGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	20	c.67 others(31): Show c.6790_*6791insTATGTATATATATATGTATA	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		2872		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721488	A A	ATATATAA others(13): Show ATATATAATATATATGTAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	400	0.0025	20	c.69 others(31): Show c.6926_*6927insTATATAATATATATGTAATG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3008		chr20	TogoVar
PAX2_chr10_100740582_100834944	100769624	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0188 a0001c0002t0041g0188	1	232	0.0043	20	c.411 others(37): Show c.411-9873_411-9872insAAATAAAATAAAATAAAATA	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX2_chr10_100740582_100834944	100769626	G G	GAATAAAA others(13): Show GAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03927.hp1 HG02647.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0007 a0001c0001t0002 a0001c0003t0007	a0001c0001t0002g0121 a0001c0003t0007g0131 a0001c0001t0002g0121 a0001c0003t0007g0131	2	232	0.0086	20	c.411 others(37): Show c.411-9844_411-9825dupTAAAATAAAATAAAATAAAA	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX2_chr10_100740582_100834944	100804271	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0028 a0001c0003t0003g0028	1	232	0.0043	20	c.617 others(37): Show c.617-2153_617-2134dupCACACACACACACACACACA	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX3_chr2_222194887_222303998	222265646	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp1 HG01099.hp2 others(18): Show HG00408.hp1 HG01069.hp1 HG01099.hp2 HG01256.hp2 HG01928.hp2 HG02015.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02155.hp2 HG03688.hp1 NA18747.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18986.hp2 NA18989.hp1 NA19056.hp2 NA19066.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0030 a0001c0001t0001g0060 a0001c0001t0001g0208 others(18): Show a0001c0001t0001g0030 a0001c0001t0001g0060 a0001c0001t0001g0208 a0001c0001t0001g0312 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0243 a0001c0001t0002g0258 a0001c0001t0003g0032 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0242 a0001c0001t0003g0247 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0004g0024 a0001c0001t0004g0180 a0001c0001t0004g0256 a0001c0001t0007g0314	21	328	0.0640	20	c.586 others(39): Show c.586+28501_586+28520dupCTTCCTTCCTTCCTTCCTTC	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222265691	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02155.hp1 NA18947.hp2 others(5): Show HG00673.hp1 HG02155.hp1 NA18947.hp2 NA18960.hp2 NA18961.hp1 NA18983.hp2 NA19000.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0101 a0001c0001t0001g0156 a0001c0001t0002g0055 others(5): Show a0001c0001t0001g0101 a0001c0001t0001g0156 a0001c0001t0002g0055 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0003g0016 a0001c0001t0003g0108 a0001c0001t0003g0155	8	328	0.0244	20	c.586 others(39): Show c.586+28475_586+28476insTCTCTCTCCCTTCCTTCCTT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX5_chr9_36828269_37039268	36848350	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA20129.hp1 HG02622.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0081 a0001c0002t0012 a0001c0002t0081	a0001c0002t0012g0236 a0001c0002t0081g0097 a0001c0002t0012g0236 a0001c0002t0081g0097	2	274	0.0073	20	c.101 others(39): Show c.1013-1441_1013-1422dupTGTGTGTGTGTGTGTGTGTG	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	8/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36870007	A A	AATGGATG others(13): Show AATGGATGGATGGATGGATGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01081.hp1 HG01243.hp1 others(1): Show HG00558.hp2 HG01081.hp1 HG01243.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0121	a0001c0001t0001g0123 a0001c0001t0002g0102 a0001c0001t0018g0115 others(1): Show a0001c0001t0001g0123 a0001c0001t0002g0102 a0001c0001t0018g0115 a0001c0001t0121g0273	4	274	0.0146	20	c.101 others(41): Show c.1012+11977_1012+11996dupCCATCCATCCATCCATCCAT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	8/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36973083	C C	CGGAAAGG others(13): Show CGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0025 a0001c0006t0025	a0001c0006t0025g0095 a0001c0006t0025g0095	1	274	0.0037	20	c.605 others(37): Show c.605-6379_605-6360dupTTTCCTTTCCTTTCCTTTCC	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36984435	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0030 a0001c0002t0062g0030	1	274	0.0037	20	c.605 others(39): Show c.605-17731_605-17712dupAAAAAAAAAAAAAAAAAAAA	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX6_chr11_31784026_31816322	31814990	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG03130.hp1 HG03225.hp2 others(4): Show HG01978.hp2 HG03130.hp1 HG03225.hp2 HG03688.hp2 NA18941.hp1 NA18965.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0067 a0001c0001t0001g0098 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0067 a0001c0001t0001g0098 a0001c0001t0001g0244 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0004t0001g0241	7	376	0.0186	20	c.-42 others(31): Show c.-4212_-4193dupGAGAGAGAGAGAGAGAGAGA	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding		3669		chr11	TogoVar
PAX7_chr1_18625846_18753866	18635511	T T	TAGGAAGG others(13): Show TAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01257.hp2 HG02145.hp1 others(19): Show HG00423.hp2 HG01257.hp2 HG02145.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03540.hp1 HG03834.hp2 HG03942.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0017 a0001c0002t0029 a0001c0002t0037 a0001c0002t0039 a0001c0002t0045	a0001c0001t0001g0035 a0001c0001t0001g0275 a0001c0001t0002g0091 others(19): Show a0001c0001t0001g0035 a0001c0001t0001g0275 a0001c0001t0002g0091 a0001c0001t0006g0089 a0001c0001t0007g0279 a0001c0001t0009g0290 a0001c0001t0011g0295 a0001c0001t0013g0302 a0001c0002t0002g0090 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0004g0010 a0001c0002t0011g0009 a0001c0002t0011g0289 a0001c0002t0011g0293 a0001c0002t0012g0260 a0001c0002t0013g0292 a0001c0002t0017g0291 a0001c0002t0029g0294 a0001c0002t0037g0280 a0001c0002t0039g0041 a0001c0002t0045g0130	22	302	0.0729	20	c.451 others(35): Show c.451+288_451+289insGGAAGGAAGGAAGGAAGGAA	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX7_chr1_18625846_18753866	18667391	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0053 a0001c0002t0010g0053	1	302	0.0033	20	c.587 others(39): Show c.587-24321_587-24302dupAGGAAGGAAGGAAGGAAGGA	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX7_chr1_18625846_18753866	18744693	G G	GATGGATG others(13): Show GATGGATGGATGGATGGATAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0243 a0001c0002t0014g0243	1	302	0.0033	20	c.140 others(37): Show c.1403-103_1403-102insAAATGGATGGATGGATGGAT	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAXIP1_chr7_154938690_155008124	154942709	A A	AATCATTT others(13): Show AATCATTTTTTTCTAAGAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	362	0.0028	20	c.14 others(31): Show c.1439_*1440insACTTCTTAGAAAAAAATGAT	PAXIP1	ENSG00000157212.20	transcript	ENST00000404141.6	protein_coding		980		chr7	TogoVar
PBK_chr8_27804624_27842817	27816343	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02004.hp2 HG02071.hp1 others(6): Show HG00438.hp2 HG02004.hp2 HG02071.hp1 HG03195.hp1 NA18966.hp2 NA18989.hp1 NA19054.hp1 NA19064.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0005t0002 a0002c0002t0002 a0002c0005t0002	a0002c0002t0002g0013 a0002c0002t0002g0071 a0002c0002t0002g0089 others(3): Show a0002c0002t0002g0013 a0002c0002t0002g0071 a0002c0002t0002g0089 a0002c0002t0002g0096 a0002c0002t0002g0135 a0002c0005t0002g0131	9	392	0.0230	20	c.595 others(37): Show c.595+4221_595+4222insTATATATATATATATATATA	PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding	6/7			chr8	TogoVar
PBLD_chr10_68277660_68337928	68286872	C C	CATGGTGG others(13): Show CATGGTGGCTCCACGCCCATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	364	0.0028	20	c.692 others(37): Show c.692-1463_692-1462insTATGGGCGTGGAGCCACCAT	PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	8/9			chr10	TogoVar
PBLD_chr10_68277660_68337928	68286873	G G	GTGGTGGC others(13): Show GTGGTGGCTCCACGCCCATAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(231): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0002c0003 others(2): Show a0001c0001 a0001c0007 a0002c0003 a0003c0005 a0004c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0007t0001 a0002c0003t0002 a0002c0003t0003 a0003c0005t0001 a0003c0005t0007 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(226): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0293 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0004g0036 a0001c0001t0004g0044 a0001c0001t0004g0063 a0001c0001t0004g0089 a0001c0001t0004g0101 a0001c0001t0004g0132 a0001c0001t0005g0353 a0001c0001t0005g0354 a0001c0001t0005g0355 a0001c0001t0005g0356 a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0006g0352 a0001c0001t0008g0183 a0001c0001t0009g0230 a0001c0001t0010g0096 a0001c0001t0011g0260 a0001c0007t0001g0178 a0001c0007t0001g0182 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0283 a0002c0003t0003g0112 a0002c0003t0003g0187 a0002c0003t0003g0281 a0002c0003t0003g0282 a0002c0003t0003g0284 a0002c0003t0003g0285 a0002c0003t0003g0286 a0002c0003t0003g0287 a0002c0003t0003g0288 a0002c0003t0003g0289 a0002c0003t0003g0290 a0002c0003t0003g0291 a0003c0005t0001g0008 a0003c0005t0001g0010 a0003c0005t0001g0011 a0003c0005t0001g0012 a0003c0005t0007g0009 a0004c0008t0001g0025	234	364	0.6429	20	c.692 others(37): Show c.692-1464_692-1463insTTATGGGCGTGGAGCCACCA	PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	8/9			chr10	TogoVar
PBLD_chr10_68277660_68337928	68289663	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	364	0.0028	20	c.424 others(35): Show c.424-664_424-645dupTGTGTGTGTGTGTGTGTGTG	PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	6/9			chr10	TogoVar
PBLD_chr10_68277660_68337928	68308845	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	364	0.0028	20	c.-59 others(37): Show c.-59-1962_-59-1943dupACACACACACACACACACAC	PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	1/9			chr10	TogoVar
PBLD_chr10_68277660_68337928	68310365	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0012 a0003c0005t0001g0012	1	364	0.0028	20	c.-59 others(37): Show c.-59-3482_-59-3463dupTATATATATATATATATATA	PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	1/9			chr10	TogoVar
PBLD_chr10_68277660_68337928	68319053	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA19082.hp2 HG01346.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0268 a0001c0001t0001g0035 a0001c0001t0001g0268	2	364	0.0055	20	c.-59 others(39): Show c.-59-12170_-59-12151dupTTCTTTCTTTCTTTCTTTCT	PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	1/9			chr10	TogoVar
PBRM1_chr3_52540367_52690913	52542619	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	300	0.0033	20	c.54 others(31): Show c.5424_*5443dupTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding		2747		chr3	TogoVar
PBRM1_chr3_52540367_52690913	52596436	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0286 a0001c0004t0001g0286	1	300	0.0033	20	c.282 others(39): Show c.2824+7065_2824+7084dupTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	19/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52604958	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00621.hp2 others(22): Show HG00438.hp1 HG00597.hp2 HG00621.hp2 HG01069.hp1 HG01496.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02071.hp2 HG02129.hp2 HG02132.hp2 HG02559.hp1 NA18747.hp1 NA18946.hp1 NA18951.hp2 NA18970.hp1 NA18977.hp2 NA18982.hp2 NA18995.hp1 NA19003.hp2 NA19006.hp1 NA19009.hp1 NA19058.hp2 NA19068.hp1 NA19083.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0010 a0001c0002 a0004c0010	a0001c0002t0001 a0001c0002t0018 a0004c0010t0001 a0001c0002t0001 a0001c0002t0018 a0004c0010t0001	a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 others(22): Show a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0180 a0001c0002t0001g0188 a0001c0002t0001g0203 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0230 a0001c0002t0001g0242 a0001c0002t0001g0249 a0001c0002t0001g0298 a0001c0002t0018g0247 a0004c0010t0001g0160	25	300	0.0833	20	c.261 others(39): Show c.2613-1246_2613-1227dupATTTATTTATTTATTTATTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	18/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52612258	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	300	0.0033	20	c.197 others(39): Show c.1970-2323_1970-2304dupTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	17/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52636757	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02155.hp1 HG02273.hp2 others(2): Show HG01975.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0175 a0001c0002t0001g0177 others(2): Show a0001c0002t0001g0163 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0190 a0001c0002t0001g0220	5	300	0.0167	20	c.108 others(39): Show c.1088-1962_1088-1943dupTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52637773	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01975.hp1 HG01496.hp2 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0174 a0001c0002t0001g0175	2	300	0.0067	20	c.108 others(39): Show c.1088-2978_1088-2959dupTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31			chr3	TogoVar
PBX1_chr1_164554184_164856831	164707418	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0089 a0001c0001t0008g0089	1	184	0.0054	20	c.266 others(39): Show c.266-85057_266-85038dupGAGAGAGAGAGAGAGAGAGA	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164707418	T T	TGTGAGAG others(13): Show TGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19043.hp2 HG02809.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0113 a0001c0001t0002g0016 a0001c0001t0002g0113	2	184	0.0109	20	c.266 others(39): Show c.266-85075_266-85074insTGAGAGAGAGAGAGAGAGAG	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164707418	T T	TGTGTGTG others(13): Show TGTGTGTGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19043.hp1 HG02630.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0022 a0001c0001t0016 a0001c0001t0022	a0001c0001t0016g0007 a0001c0001t0022g0008 a0001c0001t0016g0007 a0001c0001t0022g0008	2	184	0.0109	20	c.266 others(39): Show c.266-85075_266-85074insTGTGTGTGAGAGAGAGAGAG	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164716685	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG02015.hp2 others(2): Show HG00738.hp1 HG01099.hp1 HG02015.hp2 HG02056.hp2 HG03490.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0179 others(2): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0179 a0002c0002t0001g0028 a0002c0002t0002g0099	5	184	0.0272	20	c.266 others(39): Show c.266-75783_266-75764dupCACACACACACACACACACA	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar

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