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
DUXA_chr19_57149021_57172485	57172095	C C	CGCGAGGG others(44): Show CGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGC GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19090.hp2 NA19060.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0271 a0001c0001t0001g0246 a0001c0001t0001g0271	2	372	0.0054	51	c.-46 others(62): Show c.-4653_-4652insACGCCCCGCCCCCTCGCACGCCCCGCCCCCTCGC GCGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4611		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172095	C C	CGCGAGGG others(44): Show CGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGC GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	371	0.0027	51	c.-46 others(62): Show c.-4653_-4652insACGCCCCGCCCCCTCGCACGCCCCGCCCCCTCGC ACGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4611		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172112	C C	CGCGAGGG others(44): Show CGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGC GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	348	0.0029	51	c.-46 others(62): Show c.-4670_-4669insACGCCCCGCCCCCTCGCACGCCCCGCCCCCTCGC GCGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4628		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172129	C C	CGCGAGGG others(44): Show CGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGC GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	353	0.0028	51	c.-46 others(62): Show c.-4687_-4686insACGCCCCGCCCCCTCGCACGCCCCGCCCCCTCGC GCGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4645		chr19	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(44): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	185	0.0054	51	c.75 others(60): Show c.757_*758insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
EEFSEC_chr3_128148481_128413646	128150870	A A	ATATATTC others(44): Show ATATATTCTATATATATAATATAATATTCTATATTATATATATAATATAT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01496.hp1 others(22): Show HG01243.hp2 HG01255.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02273.hp1 HG02602.hp1 HG02615.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG03017.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03831.hp2 HG04204.hp1 HG06807.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0008 a0002c0007 a0001c0002 a0001c0008 a0002c0007	a0001c0002t0001 a0001c0008t0001 a0002c0007t0001 a0001c0002t0001 a0001c0008t0001 a0002c0007t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 others(22): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0008t0001g0014 a0001c0008t0001g0015 a0002c0007t0001g0018 a0002c0007t0001g0022	25	265	0.0943	51	c.-26 others(62): Show c.-2638_-2637insTATATTCTATATATATAATATAATATTCTATATT ATATATATAATATATTC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		2610		chr3	TogoVar
EFHB_chr3_19874472_19939217	19908601	A A	AGAGAGAG others(44): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0020 a0007c0008t0001g0020	1	340	0.0029	51	c.128 others(70): Show c.1289-2853_1289-2852insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTC	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFNA2_chr19_1280873_1306431	1282565	T T	TGGGAGGG others(44): Show TGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0106 a0001c0001t0032g0106	1	288	0.0035	51	c.-36 others(62): Show c.-3604_-3603insGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGG TGTGAAGGGAGGAGGGA	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3307		chr19	TogoVar
EGFL7_chr9_136657916_136677678	136669368	C C	CAGAATGG others(44): Show CAGAATGGTAATGATAGCCAGTTTGCATTTTGTATATTAGTTGTAACGAA AA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	430	0.0023	51	c.198 others(66): Show c.198-238_198-237insAGAATGGTAATGATAGCCAGTTTGCATTTT GTATATTAGTTGTAACGAAAA	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding	5/10			chr9	TogoVar
EIF3CL_chr16_28374715_28408841	28380189	T T	TGCTCCAA others(44): Show TGCTCCAATCCCTCCATGGCTCCACCTGCCCGCTTCCCACCCCGGCCCCT AC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04199.hp2 HG03927.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0087 a0001c0001t0001g0049 a0001c0001t0001g0087	2	134	0.0149	51	c.249 others(66): Show c.2499+52_2500-52dupGTAGGGGCCGGGGTGGGAAGCGGGCAGGTG GAGCCATGGAGGGATTGGAGC	EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding	19/20			chr16	TogoVar
ELAPOR1_chr1_109109115_109211781	109110217	G G	GCCTCACT others(44): Show GCCTCACTTCATTTCTTTGTCGCGAATACGACCTCCTTGACTCTCTGGTT TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0105 a0001c0013t0001g0105	1	228	0.0044	51	c.-39 others(62): Show c.-3967_-3966insCCTCACTTCATTTCTTTGTCGCGAATACGACCTC CTTGACTCTCTGGTTTA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		3897		chr1	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACATAA others(44): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA TA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	27	0.0370	51	c.239 others(70): Show c.239-18848_239-18847insTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(44): Show TCCAGTCTCACACACACACACACACACACACACACACACACACACACACA CA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18994.hp1 HG00544.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0273 a0001c0001t0001g0241 a0001c0001t0001g0273	2	70	0.0286	51	c.238 others(70): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELMO1_chr7_36847906_37453864	37086795	A A	AAAGTTTT others(44): Show AAAGTTTTAAAAATATATTTTTATTTACATTATTTTTCTATGGCTATTCT TT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp1 HG01258.hp1 others(3): Show HG00741.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG02886.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0002 a0001c0003t0008	a0001c0001t0001g0041 a0001c0002t0002g0048 a0001c0002t0004g0053 others(3): Show a0001c0001t0001g0041 a0001c0002t0002g0048 a0001c0002t0004g0053 a0001c0003t0002g0091 a0001c0003t0008g0045 a0001c0003t0008g0079	6	83	0.0723	51	c.130 others(70): Show c.1300+9823_1300+9824insAAAGAATAGCCATAGAAAAATAATGT AAATAAAAATATATTTTTAAAACTT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	15/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GCGGGTGT others(44): Show GCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19068.hp1 NA19057.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0115 a0001c0001t0005g0014 a0001c0001t0001g0115 a0001c0001t0005g0014	2	73	0.0274	51	c.-47 others(62): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACACACACACCCG	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGG others(44): Show GGGCGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	72	0.0139	51	c.-47 others(62): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACACACCCCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELP1_chr9_108862517_108939124	108900756	A A	ACACACAC others(44): Show ACACACACACATACACGCCACACACACATACACGCCACACACACATACAC GC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02886.hp1 HG00099.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0006 a0001c0001t0002 a0001c0002t0006	a0001c0001t0002g0001 a0001c0002t0006g0246 a0001c0001t0002g0001 a0001c0002t0006g0246	2	120	0.0167	51	c.201 others(68): Show c.2015-432_2015-382dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTGGCGTGTATGTGTGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
EML1_chr14_99788413_99947060	99928101	G G	GTGGTGAT others(44): Show GTGGTGATGGTGGTGATGGTGGTGATGGTGGAGGTGGTGGTGATGGTGGT GA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0070 a0001c0004t0013g0070	1	278	0.0036	51	c.190 others(70): Show c.1909+7227_1909+7228insTGATGGTGGTGATGGTGGTGATGGTG GAGGTGGTGGTGATGGTGGTGATGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(44): Show GTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01928.hp2 HG02572.hp1 others(5): Show HG00621.hp2 HG01928.hp2 HG02572.hp1 HG02630.hp1 HG02976.hp2 HG03209.hp1 NA18961.hp2 NA19066.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0002 a0001c0003 a0001c0004 a0003c0002	a0001c0003t0001 a0001c0004t0005 a0003c0002t0001 others(3): Show a0001c0003t0001 a0001c0004t0005 a0003c0002t0001 a0003c0002t0006 a0003c0002t0010 a0003c0002t0012	a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0175 others(5): Show a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0175 a0001c0004t0005g0245 a0003c0002t0001g0040 a0003c0002t0006g0109 a0003c0002t0010g0197 a0003c0002t0012g0257	8	152	0.0526	51	c.190 others(70): Show c.1909+7355_1909+7356insATGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0214	1	222	0.0045	51	c.243 others(70): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(44): Show CACACACACACACACACACACACACACACACACACACACACACACACACA CA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	274	0.0036	51	c.-8+ others(68): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACACACACACACACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
ERBB4_chr2_211370717_212543802	211611407	A A	AGCTTTAC others(44): Show AGCTTTACTTTTGCTTTCGCTTTACTTTTGCTTTCGCTTTACTTTTGCTT TC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp1 HG03516.hp2 others(3): Show HG02615.hp1 HG03195.hp1 HG03516.hp2 HG03579.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0004t0021	a0001c0001t0003g0049 a0001c0001t0004g0008 a0001c0001t0004g0033 others(3): Show a0001c0001t0003g0049 a0001c0001t0004g0008 a0001c0001t0004g0033 a0001c0001t0006g0026 a0001c0001t0010g0005 a0001c0004t0021g0009	6	21	0.2857	51	c.230 others(70): Show c.2301+7769_2301+7770insGAAAGCAAAAGTAAAGCGAAAGCAAA AGTAAAGCGAAAGCAAAAGTAAAGC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018532	T T	TAATATAT others(44): Show TAATATATATTATATAATATATATTATATAATATATATTATATAATATAT AA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	215	0.0047	51	c.534 others(68): Show c.534-2790_534-2789insAATATATATTATATAATATATATTATAT AATATATATTATATAATATATAA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25			chr5	TogoVar
ERC2_chr3_55503311_56473467	55799450	C C	CATATATA others(44): Show CATATATATATATATATATATGCCTTATATATATATGCATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	38	0.0263	51	c.256 others(72): Show c.2565-64533_2565-64532insATATATATATATATGCATATATAT ATAAGGCATATATATATATATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(44): Show AGGGGGGGGAGGGGGGGGAGGGGGGGGGGAGGAGAGGGGGAGGGGGGGGA GG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	254	0.0039	51	c.156 others(68): Show c.156-1332_156-1331insGAGGGGGGGGAGGGGGGGGGGAGGAGAG GGGGAGGGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH6B_chr13_45536294_45620739	45540162	T T	TCAGGGTT others(44): Show TCAGGGTTGGAGAGAGCCTCTGGGGCTGTGCAGGAAGCGTGTGGGATCCA GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG02486.hp1 HG03453.hp2 HG01975.hp2 HG02486.hp1 HG03453.hp2	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0039 a0002c0002 a0019c0023 a0001c0039 a0002c0002 a0019c0023	a0001c0039t0001 a0002c0002t0001 a0019c0023t0001 a0001c0039t0001 a0002c0002t0001 a0019c0023t0001	a0001c0039t0001g0045 a0002c0002t0001g0296 a0019c0023t0001g0207 a0001c0039t0001g0045 a0002c0002t0001g0296 a0019c0023t0001g0207	3	318	0.0094	51	c.12 others(62): Show c.1249_*1299dupCCTGGATCCCACACGCTTCCTGCACAGCCCCAGA GGCTCTCTCCAACCCTG	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding		1131		chr13	TogoVar
ESR1_chr6_151802682_152108274	151850107	T T	TAATTTTA others(44): Show TAATTTTATATGCATATAAAATTATATATATATTATTTTCTATGCATATA AA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19043.hp1 HG01891.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0167 a0001c0001t0015g0166 a0001c0001t0005g0167 a0001c0001t0015g0166	2	248	0.0081	51	c.643 others(68): Show c.643+7321_643+7322insATTTTATATGCATATAAAATTATATATA TATTATTTTCTATGCATATAAAA	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESYT2_chr7_158725997_158834509	158729237	G G	GGGGGGGA others(44): Show GGGGGGGAGGAGCAAATGTGGAGGTGCTGGGGGGAGAAGCAAGCGTGGAG GT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00735.hp1 HG01069.hp2 others(16): Show HG00408.hp1 HG00735.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01361.hp1 HG02015.hp1 HG02155.hp1 HG02300.hp1 HG02922.hp2 HG03491.hp2 HG04228.hp1 NA18954.hp1 NA18964.hp2 NA18979.hp2 NA19043.hp1 NA19064.hp1 NA19087.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0023 a0003c0003 others(2): Show a0001c0001 a0002c0023 a0003c0003 a0003c0016 a0008c0015	a0001c0001t0010 a0002c0023t0040 a0003c0003t0004 others(4): Show a0001c0001t0010 a0002c0023t0040 a0003c0003t0004 a0003c0003t0005 a0003c0003t0019 a0003c0016t0004 a0008c0015t0004	a0001c0001t0010g0264 a0002c0023t0040g0135 a0003c0003t0004g0184 others(16): Show a0001c0001t0010g0264 a0002c0023t0040g0135 a0003c0003t0004g0184 a0003c0003t0004g0192 a0003c0003t0004g0194 a0003c0003t0004g0197 a0003c0003t0004g0198 a0003c0003t0004g0199 a0003c0003t0004g0200 a0003c0003t0004g0201 a0003c0003t0005g0037 a0003c0003t0005g0076 a0003c0003t0005g0174 a0003c0003t0005g0213 a0003c0003t0005g0214 a0003c0003t0005g0215 a0003c0003t0019g0006 a0003c0016t0004g0298 a0008c0015t0004g0193	19	320	0.0594	51	c.49 others(62): Show c.4969_*4970insACCTCCACGCTTGCTTCTCCCCCCAGCACCTCCA CATTTGCTCCTCCCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1759		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158729237	G G	GGGGGGGA others(44): Show GGGGGGGAGGAGCAAATGTGGAGGTGCTGGGGGGAGGAGCAAGCGTGGAG GT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0015 a0001c0014t0015	a0001c0014t0015g0003 a0001c0014t0015g0003	1	302	0.0033	51	c.49 others(62): Show c.4969_*4970insACCTCCACGCTTGCTCCTCCCCCCAGCACCTCCA CATTTGCTCCTCCCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1759		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158729706	G G	GAGCAGTG others(44): Show GAGCAGTGTGGAGATGTTGGGGAGTTCCGAGCAGGTGTGGAGGTGCTGGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG03540.hp2 others(1): Show HG02258.hp2 HG02818.hp2 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0017 a0001c0001t0014 a0001c0001t0017	a0001c0001t0014g0220 a0001c0001t0014g0221 a0001c0001t0017g0231 others(1): Show a0001c0001t0014g0220 a0001c0001t0014g0221 a0001c0001t0017g0231 a0001c0001t0017g0232	4	367	0.0109	51	c.45 others(62): Show c.4500_*4501insTCCCCAGCACCTCCACACCTGCTCGGAACTCCCC AACATCTCCACACTGCT	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1290		chr7	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(44): Show GATATATATATTTTATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18980.hp2 HG02293.hp1 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0057 a0002c0002t0002g0099 a0002c0002t0002g0057 a0002c0002t0002g0099	2	251	0.0080	51	c.701 others(66): Show c.701+321_701+322insATATATATATATATATATATATATATATAT ATATATATAAAATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
EXD1_chr15_41177728_41235757	41199757	T T	TATATCAT others(44): Show TATATCATATATGTGATATATAATATATCATATATATGATATATAATATA TC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0109 a0002c0003t0010g0109	1	41	0.0244	51	c.535 others(68): Show c.535-3721_535-3720insGATATATTATATATCATATATATGATAT ATTATATATCACATATATGATAT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	7/11			chr15	TogoVar
EXOC2_chr6_480154_698139	501466	A A	ATATATTA others(44): Show ATATATTATATATATCTATATATTATATATATCTATATATATTATATATA TC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	254	0.0039	51	c.238 others(70): Show c.2381-1767_2381-1766insGATATATATAATATATATAGATATAT ATAATATATAGATATATATAATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519789	A A	ACACTCAC others(44): Show ACACTCACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCG AC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0037 a0001c0002t0021g0037	1	270	0.0037	51	c.238 others(72): Show c.2380+12679_2380+12680insGTCGGCGCTCGGTGGGTGGTGGTT CTCGTCTCCGAGTGTGGACGGTGAGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC6_chr10_92843520_93064490	92974540	G G	GCTCGTCT others(44): Show GCTCGTCTCCCTCTCCCGTCTCCCTCTCCCCACGGTCTCCCTCTCCCTCT CC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	37	0.0270	51	c.195 others(68): Show c.1953+358_1953+359insCCTCGTCTCCCTCTCCCGTCTCCCTCTC CCCACGGTCTCCCTCTCCCTCTC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOSC3_chr9_37774714_37790064	37777254	C C	CCCAGCTT others(44): Show CCCAGCTTTTAACCTCTCACCACTGAATTCCTGTTTGATCTTCAGGGTTC AG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	430	0.0023	51	c.33 others(62): Show c.3374_*3424dupCTGAACCCTGAAGATCAAACAGGAATTCAGTGGT GAGAGGTTAAAAGCTGG	EXOSC3	ENSG00000107371.14	transcript	ENST00000327304.10	protein_coding		2459		chr9	TogoVar
EXOSC4_chr8_144073672_144085648	144084923	T T	TCAACTCT others(44): Show TCAACTCTAGGCTGGGGAGAGTCTTCCATCCTGATGGGGGGTGGGGTACG GG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	300	0.0033	51	c.43 others(62): Show c.4322_*4323insCAACTCTAGGCTGGGGAGAGTCTTCCATCCTGAT GGGGGGTGGGGTACGGG	EXOSC4	ENSG00000178896.9	transcript	ENST00000316052.6	protein_coding		4276		chr8	TogoVar
EYS_chr6_63714980_65712226	64151363	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	24	0.0417	51	c.642 others(72): Show c.6425-69362_6425-69361insATATATATATATATATATATATAT ATATATATATATATATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
F7_chr13_113100791_113125685	113107769	T T	TGTGGGTG others(44): Show TGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGG GA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(202): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0008 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0003t0014 a0001c0004t0001 a0002c0002t0003 a0002c0002t0011 a0003c0008t0002 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(85): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0039 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0098 a0001c0001t0004g0135 a0001c0001t0005g0103 a0001c0001t0006g0029 a0001c0001t0006g0080 a0001c0001t0006g0081 a0001c0001t0007g0002 a0001c0001t0013g0038 a0001c0001t0018g0156 a0001c0001t0020g0011 a0001c0001t0022g0001 a0001c0001t0024g0017 a0001c0001t0025g0034 a0001c0003t0014g0077 a0001c0003t0014g0102 a0001c0004t0001g0001 a0002c0002t0003g0132 a0002c0002t0011g0124 a0003c0008t0002g0133 a0005c0006t0001g0003	205	312	0.6571	51	c.64+ others(66): Show c.64+1878_64+1879insGGCGTGGGTGTCCCGGGAGTGTGGGTGTCC CGGGGGAGTGGGTGTCCCGGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113107769	T T	TGTGGGTG others(44): Show TGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCTGGGG GA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	108	0.0093	51	c.64+ others(66): Show c.64+1878_64+1879insGGCGTGGGTGTCCCGGGAGTGTGGGTGTCC TGGGGGAGTGGGTGTCCCGGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108128	A A	AGGGTGTC others(44): Show AGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGTGTGGGTGTCCCGGGGGT GT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0052 a0002c0002t0003g0052	1	386	0.0026	51	c.64+ others(66): Show c.64+2249_64+2250insGGGGGTGTGGGTGTCCCGGGGGTGTGGGTG TCCCGGGAGTGTGGGTGTCCC	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108143	T T	TGTGGGTG others(44): Show TGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGG GC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02109.hp1 others(6): Show HG01069.hp1 HG01071.hp1 HG02109.hp1 HG03225.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	9	397	0.0227	51	c.64+ others(66): Show c.64+2246_64+2247insTCCGGAGGCGAGGGTGTCCCGGGAGTGTGG GTGTCCCGGGGGCGTGGGTGT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAF1_chr1_50432028_50965267	50694004	T T	TATATACA others(44): Show TATATACACGACATATATGACATATATATGACATATACATGACATATATG AC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02976.hp2 others(5): Show HG02109.hp2 HG02717.hp1 HG02976.hp2 HG03139.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0023 a0001c0001t0040 others(2): Show a0001c0001t0012 a0001c0001t0023 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042	a0001c0001t0012g0002 a0001c0001t0012g0007 a0001c0001t0012g0011 others(5): Show a0001c0001t0012g0002 a0001c0001t0012g0007 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0023g0010 a0001c0001t0040g0008 a0001c0001t0041g0013 a0001c0001t0042g0009	8	175	0.0457	51	c.657 others(70): Show c.657+11781_657+11782insGTCATATATGTCATGTATATGTCATA TATATGTCATATATGTCGTGTATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	7/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50694004	T T	TATATACA others(44): Show TATATACATGACATATATGACATATATATGACATATACATGACATACATG AC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02717.hp2 others(3): Show HG02451.hp2 HG02572.hp2 HG02717.hp2 HG03471.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0020 a0001c0001t0031 a0001c0001t0010 a0001c0001t0020 a0001c0001t0031	a0001c0001t0010g0178 a0001c0001t0010g0181 a0001c0001t0010g0182 others(3): Show a0001c0001t0010g0178 a0001c0001t0010g0181 a0001c0001t0010g0182 a0001c0001t0010g0183 a0001c0001t0020g0180 a0001c0001t0031g0179	6	173	0.0347	51	c.657 others(70): Show c.657+11781_657+11782insGTCATGTATGTCATGTATATGTCATA TATATGTCATATATGTCATGTATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	7/18			chr1	TogoVar
FAH_chr15_80147999_80191349	80152613	A A	AGGCGGGG others(44): Show AGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGA GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	393	0.0025	51	c.-44 others(60): Show c.-442_-441insGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGG CGGGGCGAGGGGAGG	FAH	ENSG00000103876.14	transcript	ENST00000561421.6	protein_coding		385		chr15	TogoVar
FAIM_chr3_138603771_138638376	138609070	C C	CGGCGGCG others(44): Show CGGCGGCGGCCATCTCTGGGCGGCGGCCATCTCTGGGCGGCGGCCATCTC TG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0019 a0002c0005t0001g0020	2	366	0.0055	51	c.-17 others(66): Show c.-17+159_-17+160insCATCTCTGGGCGGCGGCCATCTCTGGGCGG CGGCCATCTCTGGGCGGCGGC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609551	T T	TCTCTCTC others(44): Show TCTCTCTCTCTCTCTCCCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTC TC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	343	0.0029	51	c.-17 others(66): Show c.-17+629_-17+630insCCTCTCCCTCTCTCCCTCTCTCTCTCCCTC CCTCTCCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609555	T T	TCTCTCTC others(44): Show TCTCTCTCTCTCTCTCCCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTC TC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	364	0.0027	51	c.-17 others(66): Show c.-17+633_-17+634insCCTCTCCCTCTCTCCCTCTCTCTCTCCCTC CCTCTCCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAM111B_chr11_59102237_59132412	59106681	G G	GCCGCCAG others(44): Show GCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGC TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01884.hp1 others(5): Show HG00140.hp1 HG00741.hp1 HG01884.hp1 HG02280.hp2 HG02647.hp1 HG03225.hp2 HG04228.hp2 NA19001.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0011 a0006c0010 a0001c0001 a0001c0011 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0011t0011 a0006c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0002g0003 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0002g0003 a0001c0001t0005g0017 a0001c0011t0011g0068 a0006c0010t0001g0001	8	240	0.0333	51	c.-74 others(60): Show c.-747_-746insCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCC GCCAGCGCGCGGCTC	FAM111B	ENSG00000189057.11	transcript	ENST00000343597.4	protein_coding		555		chr11	TogoVar
FAM161B_chr14_73927276_73955094	73953257	T T	TCTGGGGA others(44): Show TCTGGGGATAGGGAAAGAGGTGTCCCCTCTTCCTCTTCTCATCCTCCTCT AG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0071 a0001c0001t0024g0071	1	440	0.0023	51	c.-32 others(62): Show c.-3232_-3231insCTAGAGGAGGATGAGAAGAGGAAGAGGGGACACC TCTTTCCCTATCCCCAG	FAM161B	ENSG00000156050.10	transcript	ENST00000286544.5	protein_coding		3164		chr14	TogoVar

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