Joint Open Genome and Omics Platform (JoGo)

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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
ERBB4_chr2_211370717_212543802	212373950	T T	TATCCATA others(40): Show TATCCATATATATCCATAAATATATCCATATATATCCATATATATCCA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03239.hp2 HG03453.hp1 HG01175.hp2 HG03239.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0005 a0002c0003t0001 a0001c0001t0004 a0001c0001t0005 a0002c0003t0001	a0001c0001t0004g0003 a0001c0001t0005g0015 a0002c0003t0001g0014 a0001c0001t0004g0003 a0001c0001t0005g0015 a0002c0003t0001g0014	3	27	0.1111	47	c.82+ others(66): Show c.82+164498_82+164499insTGGATATATATGGATATATATGGATA TATTTATGGATATATATGGAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018466	A A	ATATATAT others(40): Show ATATATATTATATATTATATATTATATATTATATTATATAATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0288 a0001c0002t0002g0288	1	221	0.0045	47	c.534 others(64): Show c.534-2830_534-2829insATTATATTATATAATATATATTATATAT TATATATTATATATTATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018473	T T	TTATATTA others(40): Show TTATATTATATAATATATAATATATATTATATAATATATATTATATAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	237	0.0042	47	c.534 others(64): Show c.534-2844_534-2843insTATATAATATATAATATATATTATATAA TATATATTATATAATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018480	T T	TTATATAT others(40): Show TTATATATTATATATTATATTATATAATATATATTATATATTATATAA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0247 a0001c0002t0002g0247	1	229	0.0044	47	c.534 others(64): Show c.534-2830_534-2829insATTATATTATATAATATATATTATATAT TATATAATATATATTATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC2_chr3_55503311_56473467	55799450	C C	CATATATA others(40): Show CATATATATATATATATATATGCCTTATATATATATGCATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	38	0.0263	47	c.256 others(68): Show c.2565-64533_2565-64532insATATATATATGCATATATATATAA GGCATATATATATATATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55799450	C C	CATATATA others(40): Show CATATATATATATATATATGCCTTATATATATATGCATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03098.hp2 HG01071.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0070 a0001c0002t0002g0012 a0001c0001t0003g0070 a0001c0002t0002g0012	2	39	0.0513	47	c.256 others(68): Show c.2565-64533_2565-64532insATATATATATATGCATATATATAT AAGGCATATATATATATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERFL_chr19_41902704_41933449	41923902	A A	AGGGGCTG others(40): Show AGGGGCTGTGCTGGGGGTGTGTGTGGGGAGGTAGGGGTATGCTGGGAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18954.hp2 HG02135.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0220 a0001c0001t0003g0206 a0001c0001t0003g0220	2	328	0.0061	47	c.-14 others(64): Show c.-14+4091_-14+4137dupCTCCCAGCATACCCCTACCTCCCCACAC ACACCCCCAGCACAGCCCC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGAGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG04184.hp2 HG01175.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0116 a0001c0001t0020g0078 a0001c0001t0001g0116 a0001c0001t0020g0078	2	255	0.0078	47	c.156 others(64): Show c.156-1325_156-1324insGGAGGGGGGGGGAGAGAGGGGAGGGGGG GGAGGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	254	0.0039	47	c.156 others(64): Show c.156-1325_156-1324insGGGAGGGGGGGGAGAGAGGGGAGGGGGG GGAGGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGAGGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01167.hp1 HG00673.hp2 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0201 a0001c0001t0002g0010 a0001c0001t0001g0201 a0001c0001t0002g0010	2	255	0.0078	47	c.156 others(64): Show c.156-1325_156-1324insGGGAGGGGGGGGGAGAGAGGGGAGGGGG GGAGGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGAGGGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0334 a0001c0001t0003g0334	1	254	0.0039	47	c.156 others(64): Show c.156-1325_156-1324insGGGAGGGGGGGGGGAGAGAGGGGAGGGG GGGAGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGGAAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	254	0.0039	47	c.156 others(64): Show c.156-1332_156-1331insGAAGGGGGGGGGAGGGGGGGGAGAGAGG GGAGGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGGAGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	254	0.0039	47	c.156 others(64): Show c.156-1332_156-1331insGAGGGGGGGAGGGGGGGGGGAGAGAGGG GAGGGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGGAGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	254	0.0039	47	c.156 others(64): Show c.156-1332_156-1331insGAGGGGGGGGAGGGGGGGGAGAGAGGGG AGGGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGGAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	254	0.0039	47	c.156 others(64): Show c.156-1332_156-1331insGAGGGGGGGGGAGGGGGGGGAGAGAGGG GAGGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGGAGGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	254	0.0039	47	c.156 others(64): Show c.156-1332_156-1331insGAGGGGGGGGGAGGGGGGGGGAGAGAGG GGAGGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908342	G G	GGGAGGGG others(40): Show GGGAGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	317	0.0032	47	c.156 others(64): Show c.156-1325_156-1324insGGAGGGGGGGGAGAGAGGGGAGGGGGGG AGGGGGGGGGAGGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908342	G G	GGGAGGGG others(40): Show GGGAGGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	317	0.0032	47	c.156 others(64): Show c.156-1325_156-1324insGGAGGGGGGGGGAGAGAGGGGAGGGGGG GAGGGGGGGGGAGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908344	G G	GGAGGGGG others(40): Show GGAGGGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0184 a0001c0001t0006g0184	1	211	0.0047	47	c.156 others(64): Show c.156-1322_156-1321insAGGGGGGGGGGAGAGAGGGGAGGGGGGG AGGGGGGGGGAGGGGGGAG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERI3_chr1_44216070_44360257	44342858	T T	TATATATA others(40): Show TATATATATATAAATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	303	0.0033	47	c.212 others(64): Show c.212-3537_212-3536insTATATATATATATATATATATATATATA TATATATTTATATATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH1_chr8_659200_736224	659338	A A	AGGGGGTG others(40): Show AGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	364	0.0027	47	c.52 others(58): Show c.5264_*5265insCTCCCCAGGATGGTCAGTGCACACCGGAGATCTC GATGGTCACCCCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4861		chr8	TogoVar
ERICH1_chr8_659200_736224	659384	A A	AGGGGGTG others(40): Show AGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0334 a0001c0001t0002g0334	1	365	0.0027	47	c.52 others(58): Show c.5218_*5219insCTCCCCAGGATGGTCAGTGCACACCGGAGATCTC GATGGTCACCCCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4815		chr8	TogoVar
ERVV-1_chr19_53008921_53021123	53013952	A A	AATTCGGG others(40): Show AATTCGGGGAATCTTGGTTGCGGTGGCATCGGTTCTTCTCTAATTTTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0007 a0009c0017t0007	a0009c0017t0007g0000 a0009c0017t0007g0000	1	402	0.0025	47	c.-13 others(56): Show c.-139_-138insATTCGGGGAATCTTGGTTGCGGTGGCATCGGTTCTT CTCTAATTTTG	ERVV-1	ENSG00000269526.2	transcript	ENST00000602168.2	protein_coding	1/1	138		chr19	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(40): Show GATATATATATTTTATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01261.hp2 HG01943.hp1 others(2): Show HG00673.hp2 HG01261.hp2 HG01943.hp1 NA18950.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0087 a0002c0002t0002g0088 others(2): Show a0002c0002t0002g0055 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0093 a0002c0002t0002g0102	5	254	0.0197	47	c.701 others(62): Show c.701+321_701+322insATATATATATATATATATATATATATATAT ATATAAAATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(40): Show GATATATATATTTTTTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0274 a0002c0002t0002g0274	1	250	0.0040	47	c.701 others(62): Show c.701+321_701+322insATATATATATATATATATATATATATATAT ATAAAAAATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
EXOC2_chr6_480154_698139	501373	A A	ATATTATA others(40): Show ATATTATATATATCTATATATATTATATATATATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	240	0.0042	47	c.238 others(66): Show c.2381-1674_2381-1673insGATATATATAATATATATATATATAA TATATATAGATATATATAATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501373	A A	ATATTATA others(40): Show ATATTATATATATCTATATATTATATATATCTATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0175 a0001c0002t0008g0175	1	240	0.0042	47	c.238 others(66): Show c.2381-1674_2381-1673insGATATATATAATATATAGATATATAT AATATATAGATATATATAATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501375	A A	ATTATATA others(40): Show ATTATATATATCTATATATATTATATATATCTATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	141	0.0071	47	c.238 others(66): Show c.2381-1676_2381-1675insGATATATATAATATATAGATATATAT AATATATATAGATATATATAA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501375	A A	ATTATATA others(40): Show ATTATATATATCTATATATTATATATATCTATATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03098.hp2 HG02257.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0227 a0001c0001t0002g0229	2	142	0.0141	47	c.238 others(66): Show c.2381-1676_2381-1675insGATATATATAATATATATAGATATAT ATAATATATAGATATATATAA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519378	A A	ACCGAGCG others(40): Show ACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGAGAACCAACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0159 a0001c0003t0002g0159	1	270	0.0037	47	c.238 others(68): Show c.2380+13090_2380+13091insGTGTTGGTTCTCGTCTCCGAGTGT GGACGGTGAGTGTAGGCGCTCGG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	98	0.0102	47	c.-68 others(66): Show c.-68-15034_-68-15033insAAAAATATATATATATATATATATAT ATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	98	0.0102	47	c.-68 others(66): Show c.-68-15034_-68-15033insAAAAAAATATATATATATATATATAT ATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
F10_chr13_113117799_113154529	113154227	G G	GGCGGGGC others(40): Show GGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	403	0.0025	47	c.47 others(58): Show c.4710_*4711insGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGC AGGGCGCGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4699		chr13	TogoVar
FAM110B_chr8_57989523_58153784	58006923	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18992.hp1 NA18989.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0028 a0001c0001t0013 a0001c0001t0028	a0001c0001t0013g0183 a0001c0001t0028g0182 a0001c0001t0013g0183 a0001c0001t0028g0182	2	146	0.0137	47	c.-51 others(68): Show c.-512+12118_-512+12119insATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTTT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(40): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02922.hp1 HG02976.hp1 others(3): Show HG02071.hp1 HG02922.hp1 HG02976.hp1 HG03453.hp2 NA18950.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0160 others(3): Show a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0160 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0247	6	36	0.1667	47	c.-76 others(64): Show c.-76-2750_-76-2704dupGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM149A_chr4_186099704_186180337	186137019	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0029 a0029	a0029c0032 a0029c0032	a0029c0032t0004 a0029c0032t0004	a0029c0032t0004g0334 a0029c0032t0004g0334	1	381	0.0026	47	c.567 others(66): Show c.567-12154_567-12153insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTC	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13			chr4	TogoVar
FAM168A_chr11_73395487_73603112	73511550	A A	ATGTAATG others(40): Show ATGTAATGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0062 a0001c0001t0022g0062	1	173	0.0058	47	c.-18 others(66): Show c.-18-43059_-18-43058insCTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAATTCATTACA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(40): Show GAGAGAGAGAGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	86	0.0116	47	c.650 others(66): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCCTTCTCTCTCTCT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	81	0.0123	47	c.502 others(64): Show c.502-7999_502-7998insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0107 a0007c0007t0003g0107	1	81	0.0123	47	c.502 others(64): Show c.502-7999_502-7998insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193B_chr5_177514789_177559563	177554489	A A	ACGCCGCG others(40): Show ACGCCGCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02165.hp1 HG02615.hp2 HG02165.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0056 a0001c0001t0055 a0001c0001t0056	a0001c0001t0055g0253 a0001c0001t0056g0254 a0001c0001t0055g0253 a0001c0001t0056g0254	2	189	0.0106	47	c.-32 others(54): Show c.-32_-31insGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGCGGCG	FAM193B	ENSG00000146067.17	transcript	ENST00000514747.6	protein_coding	1/9	32		chr5	TogoVar
FAM210A_chr18_13658347_13731558	13674943	T T	TCTTTATT others(40): Show TCTTTATTTCCAGTTTCCTGACTATTAACATTCCTGAGCCCCGACTTC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	226	0.0044	47	c.474 others(64): Show c.474-2971_474-2970insGAAGTCGGGGCTCAGGAATGTTAATAGT CAGGAAACTGGAAATAAAG	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM227B_chr15_49321970_49625818	49371937	A A	AATAATGA others(40): Show AATAATGAAATAAAATTCACTTATAAATAAATGAAATAAAATTCACTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0085 a0001c0001t0009g0085	1	291	0.0034	47	c.101 others(64): Show c.1013-539_1013-538insAAGTGAATTTTATTTCATTTATTTATAA GTGAATTTTATTTCATTAT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49371963	A A	AATAATGA others(40): Show AATAATGAAATAAAATTCACTTATAAATAAATGAAATAAAATTCACTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03831.hp1 NA18957.hp2 HG02602.hp2 HG03831.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0067 a0001c0001t0005g0160 a0001c0001t0010g0293 a0001c0001t0005g0067 a0001c0001t0005g0160 a0001c0001t0010g0293	3	292	0.0103	47	c.101 others(64): Show c.1013-565_1013-564insAAGTGAATTTTATTTCATTTATTTATAA GTGAATTTTATTTCATTAT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49371970	G G	GAAATAAA others(40): Show GAAATAAAATTCACTTATAAATAAATGAAATAAAATTCACTTATAAAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02738.hp2 HG03017.hp1 HG02698.hp1 HG02738.hp2 HG03017.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0018 a0005c0004t0014 a0001c0001t0018 a0005c0004t0014	a0001c0001t0018g0242 a0005c0004t0014g0288 a0005c0004t0014g0289 a0001c0001t0018g0242 a0005c0004t0014g0288 a0005c0004t0014g0289	3	270	0.0111	47	c.101 others(64): Show c.1013-618_1013-572dupATTTATAAGTGAATTTTATTTCATTTAT TTATAAGTGAATTTTATTT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM3B_chr21_41311801_41362727	41313428	A A	AATTTGAT others(40): Show AATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00642.hp1 others(99): Show HG00140.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18942.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18973.hp2 NA18984.hp1 NA18986.hp2 NA19011.hp1 NA19030.hp1 NA19064.hp2 NA19065.hp1 NA19078.hp1 NA19083.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(74): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0002g0005 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0150 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0003g0032 a0001c0001t0003g0173 a0001c0001t0005g0120 a0001c0002t0001g0029 a0001c0002t0001g0123 a0001c0002t0001g0142 a0001c0002t0001g0168	102	221	0.4615	47	c.-34 others(58): Show c.-3452_-3451insATTTGATCCATTCTTGAACCTCATCATACAGTAT GTATGCATGTCGC	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding		3372		chr21	TogoVar
FAM3B_chr21_41311801_41362727	41313567	C C	CGCATTTG others(40): Show CGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	312	0.0032	47	c.-33 others(58): Show c.-3313_-3312insGCATTTGATCCATTCTTGAACCTCATCATACAGT ATGTATGCATGTT	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding		3233		chr21	TogoVar
FAM3B_chr21_41311801_41362727	41313615	G G	GCATTTGA others(40): Show GCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01070.hp1 HG01109.hp1 others(14): Show HG00558.hp1 HG01070.hp1 HG01109.hp1 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp2 HG02083.hp2 HG02559.hp1 HG02717.hp1 HG02809.hp1 HG02922.hp2 HG03130.hp1 HG03225.hp1 NA18967.hp2 NA19064.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0108 a0001c0001t0001g0109 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0002g0010 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0112	17	312	0.0545	47	c.-32 others(58): Show c.-3265_-3264insCATTTGATCCATTCTTGAACCTCATCATACAGTA TGTATGCATGTCA	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding		3185		chr21	TogoVar
FAP_chr2_162165684_162248445	162179810	A A	ATTTTTTT others(40): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	210	0.0048	47	c.186 others(66): Show c.1869+3603_1869+3604insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	FAP	ENSG00000078098.15	transcript	ENST00000188790.9	protein_coding	21/25			chr2	TogoVar
FARS2_chr6_5256513_5776583	5315716	C C	CTCTTCTT others(40): Show CTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	125	0.0080	47	c.-21 others(66): Show c.-21-52830_-21-52829insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar

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