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
F7_chr13_113100791_113125685	113102075	A A	ACATTATT others(25): Show ACATTATTATGAGGAAACAGAATATTCTTATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	398	0.0025	32	c.-37 others(43): Show c.-3767_-3766insCATTATTATGAGGAAACAGAATATTCTTATTG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		3715		chr13	TogoVar
F9_chrX_139525739_139568459	139548299	T T	TATATTTG others(25): Show TATATTTGACCCATACAATGTATATTTGACCCA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	261	0.0038	32	c.392 others(45): Show c.392-64_392-63insATATTTGACCCATACAATGTATATTTGACCCA	F9	ENSG00000101981.12	transcript	ENST00000218099.7	protein_coding	4/7			chrX	TogoVar
F9_chrX_139525739_139568459	139567772	A A	AGAGGAAG others(25): Show AGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02922.hp1 HG03453.hp1 others(2): Show HG00639.hp1 HG02922.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0137 a0001c0001t0004g0018 a0001c0001t0004g0040 others(1): Show a0001c0001t0001g0137 a0001c0001t0004g0018 a0001c0001t0004g0040 a0001c0001t0004g0071	5	246	0.0203	32	c.57 others(43): Show c.5701_*5702insGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGG	F9	ENSG00000101981.12	transcript	ENST00000218099.7	protein_coding		4314		chrX	TogoVar
FAAH2_chrX_57281706_57494193	57306994	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(13): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00735.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01943.hp1 HG02004.hp1 HG02148.hp1 HG02615.hp1 HG02723.hp1 HG04184.hp2 NA18947.hp2 NA19085.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0004c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0043 others(13): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0105 a0001c0001t0003g0129 a0001c0002t0002g0148 a0001c0002t0002g0158 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0196 a0004c0007t0001g0122	16	46	0.3478	32	c.276 others(49): Show c.276-3596_276-3595insTATATATATATATATATATATATATATA TATA	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FABP7_chr6_122774716_122789074	122777845	A A	AAAATAAA others(25): Show AAAATAAATAAATAAATAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	98	0.0102	32	c.-19 others(43): Show c.-1950_-1949insAAATAAATAAATAAATAAATAAATAAATAAAT	FABP7	ENSG00000164434.12	transcript	ENST00000368444.8	protein_coding		1870		chr6	TogoVar
FADS2_chr11_61823300_61872354	61861353	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18950.hp2 NA19011.hp1 others(1): Show HG01106.hp2 NA18950.hp2 NA19011.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0001t0001g0065 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0190	4	112	0.0357	32	c.883 others(49): Show c.883-1601_883-1600insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAF1_chr1_50432028_50965267	50554390	T T	TATATATA others(25): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	15	0.0667	32	c.126 others(53): Show c.1268+12686_1268+12687insCTCTCTCTCTCTCTCTCTCTCTCT ATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50554390	T T	TATATATA others(25): Show TATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02135.hp2 NA19002.hp1 others(1): Show HG01081.hp1 HG02135.hp2 NA19002.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0037 others(1): Show a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0037 a0001c0001t0003g0041	4	18	0.2222	32	c.126 others(53): Show c.1268+12686_1268+12687insCTCTCTCTCTCTCTCTCTATATAT ATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50554390	T T	TATATATA others(25): Show TATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	15	0.0667	32	c.126 others(53): Show c.1268+12686_1268+12687insCTCTCTCTCTCTCTCTATATATAT ATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50739278	A A	ACATATAC others(25): Show ACATATACATATGTACATGTGTACACGTACATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp2 HG01258.hp1 HG00741.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0018 a0001c0002t0006 a0001c0002t0018	a0001c0002t0006g0046 a0001c0002t0018g0045 a0001c0002t0018g0047 a0001c0002t0006g0046 a0001c0002t0018g0045 a0001c0002t0018g0047	3	188	0.0160	32	c.460 others(47): Show c.460-356_460-325dupCATGTACGTGTACACATGTACATATGTATA TG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	5/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50739288	A A	ATGTACAT others(25): Show ATGTACATGTGTACACGTACATGCATATACATG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01070.hp2 others(24): Show HG00438.hp2 HG00621.hp1 HG01070.hp2 HG01081.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01517.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02630.hp1 HG03704.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18964.hp2 NA18970.hp1 NA18979.hp1 NA18984.hp1 NA19002.hp1 NA19010.hp1 NA19043.hp2 NA19060.hp2 NA19074.hp1 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 others(3): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0038	a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0022 others(24): Show a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0008g0132 a0001c0001t0011g0020 a0001c0001t0011g0023 a0001c0001t0011g0029 a0001c0001t0011g0038 a0001c0001t0016g0006 a0001c0001t0016g0027 a0001c0001t0017g0019 a0001c0001t0017g0026 a0001c0001t0017g0034 a0001c0001t0038g0033	27	186	0.1452	32	c.460 others(47): Show c.460-366_460-335dupCATGTATATGCATGTACGTGTACACATGTA CA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	5/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50739342	G G	GCATATAC others(25): Show GCATATACATGTGTACATGTGTACACATACATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG06807.hp1 HG02976.hp2 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0040 a0001c0001t0042 a0001c0001t0023 a0001c0001t0040 a0001c0001t0042	a0001c0001t0023g0010 a0001c0001t0040g0008 a0001c0001t0042g0009 a0001c0001t0023g0010 a0001c0001t0040g0008 a0001c0001t0042g0009	3	188	0.0160	32	c.460 others(47): Show c.460-389_460-388insTATGTATGTGTACACATGTACACATGTATA TG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	5/18			chr1	TogoVar
FAIM2_chr12_49861896_49908900	49879282	G G	GTGTGGGT others(25): Show GTGTGGGTATGTGTATGCATGTGCATGTGTATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0132 a0001c0001t0037g0132	1	416	0.0024	32	c.801 others(49): Show c.801+8103_801+8104insTATACACATGCACATGCATACACATACC CACA	FAIM2	ENSG00000135472.9	transcript	ENST00000320634.8	protein_coding	11/11			chr12	TogoVar
FAM104A_chr17_73202365_73237394	73225899	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0186 a0002c0004t0001g0186	1	235	0.0043	32	c.321 others(49): Show c.321+1265_321+1266insAAAAAAAATATATATATATATATATATA TATA	FAM104A	ENSG00000133193.13	transcript	ENST00000405159.8	protein_coding	2/3			chr17	TogoVar
FAM107B_chr10_14513557_14779897	14737766	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02886.hp1 NA18947.hp2 others(2): Show HG01934.hp2 HG02886.hp1 NA18947.hp2 NA18982.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0002c0005t0027	a0001c0001t0001g0069 a0001c0001t0002g0066 a0001c0001t0002g0200 others(2): Show a0001c0001t0001g0069 a0001c0001t0002g0066 a0001c0001t0002g0200 a0001c0001t0009g0014 a0002c0005t0027g0258	5	20	0.2500	32	c.411 others(51): Show c.411+36455_411+36486dupGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14767055	T T	TATATATA others(25): Show TATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	149	0.0067	32	c.411 others(49): Show c.411+7197_411+7198insCTCTCTCTATATATATATATATATATAT ATAT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14767055	T T	TATATATA others(25): Show TATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	149	0.0067	32	c.411 others(49): Show c.411+7197_411+7198insCTCTCTATATATATATATATATATATAT ATAT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14767055	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19074.hp1 HG03710.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0129 a0002c0002t0003g0266 a0001c0001t0001g0129 a0002c0002t0003g0266	2	150	0.0133	32	c.411 others(49): Show c.411+7197_411+7198insCTATATATATATATATATATATATATAT ATAT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM110B_chr8_57989523_58153784	58006923	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	145	0.0069	32	c.-51 others(53): Show c.-512+12118_-512+12119insATATATATATATATATATATTTTT TTTTTTTT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM110B_chr8_57989523_58153784	58047591	C C	CCTCTCTC others(25): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02559.hp2 HG02129.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0106 a0001c0001t0007g0135 a0001c0001t0003g0106 a0001c0001t0007g0135	2	31	0.0645	32	c.-41 others(53): Show c.-414+15901_-414+15932dupCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM111A_chr11_59137856_59160039	59141914	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0048 a0001c0002t0012g0048	1	134	0.0075	32	c.-15 others(43): Show c.-1560_-1559insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	FAM111A	ENSG00000166801.17	transcript	ENST00000675163.1	protein_coding		941		chr11	TogoVar
FAM117B_chr2_202629969_202774757	202731332	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0009 a0001c0001t0122g0009	1	112	0.0089	32	c.960 others(49): Show c.960+4970_960+4971insAATATATATATATATATATATATATATA TATA	FAM117B	ENSG00000138439.12	transcript	ENST00000392238.3	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM120C_chrX_54063324_54188254	54127866	T T	TACAGACG others(25): Show TACAGACGTGAGCCACCATGCCTGGCCCAGGTA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0095 a0001c0001t0007g0095	1	188	0.0053	32	c.206 others(51): Show c.2062+4794_2062+4825dupTACCTGGGCCAGGCATGGTGGCTCAC GTCTGT	FAM120C	ENSG00000184083.12	transcript	ENST00000375180.7	protein_coding	9/15			chrX	TogoVar
FAM135A_chr6_70408508_70566174	70534312	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0244 a0003c0005t0001g0244	1	148	0.0068	32	c.396 others(49): Show c.3965+483_3965+484insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	FAM135A	ENSG00000082269.17	transcript	ENST00000418814.7	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM135B_chr8_138125023_138502261	138226184	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01255.hp2 HG00738.hp2 HG01255.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0004 a0003c0001t0007 a0003c0001t0004 a0003c0001t0007	a0003c0001t0004g0035 a0003c0001t0007g0078 a0003c0001t0004g0035 a0003c0001t0007g0078	2	126	0.0159	32	c.669 others(51): Show c.669+16757_669+16758insGCGCGCGCGCGCGCACACACACACAC ACACAC	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	7/19			chr8	TogoVar
FAM135B_chr8_138125023_138502261	138226184	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0007 a0003c0030t0007	a0003c0030t0007g0058 a0003c0030t0007g0058	1	125	0.0080	32	c.669 others(51): Show c.669+16757_669+16758insGCGCGCGCGCGCACACACACACACAC ACACAC	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	7/19			chr8	TogoVar
FAM135B_chr8_138125023_138502261	138314693	C C	CAATAAAT others(25): Show CAATAAATAAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03225.hp1 HG03486.hp2 others(1): Show HG02723.hp2 HG03225.hp1 HG03486.hp2 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0006 a0001c0007 others(1): Show a0001c0004 a0001c0006 a0001c0007 a0003c0001	a0001c0004t0001 a0001c0006t0002 a0001c0007t0003 others(1): Show a0001c0004t0001 a0001c0006t0002 a0001c0007t0003 a0003c0001t0004	a0001c0004t0001g0020 a0001c0006t0002g0183 a0001c0007t0003g0054 others(1): Show a0001c0004t0001g0020 a0001c0006t0002g0183 a0001c0007t0003g0054 a0003c0001t0004g0019	4	5	0.8000	32	c.78- others(47): Show c.78-3774_78-3773insTATTTATTTATTTATTTATTTATTTATTTA TT	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	2/19			chr8	TogoVar
FAM13B_chr5_137932960_138038079	137966488	T T	TATATATA others(25): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0006 a0002c0003t0002g0006	1	93	0.0108	32	c.118 others(51): Show c.1180-4020_1180-4019insCTCTCTCTCTCTCTCTCTCTCTATAT ATATAT	FAM13B	ENSG00000031003.11	transcript	ENST00000689681.1	protein_coding	10/23			chr5	TogoVar
FAM13C_chr10_59241133_59367549	59286516	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02683.hp2 HG00673.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0170 a0001c0001t0002g0071 a0001c0001t0002g0170	2	6	0.3333	32	c.508 others(49): Show c.508-3070_508-3069insATATATATATATATATATATATATATAT ATAT	FAM13C	ENSG00000148541.13	transcript	ENST00000618804.5	protein_coding	5/13			chr10	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTAT others(25): Show CTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0310 a0002c0004t0003g0310	1	32	0.0313	32	c.567 others(51): Show c.567-18879_567-18878insCTCTATATATATATATATATATATAT ATATAT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(25): Show CTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0015 a0008c0013t0015	a0008c0013t0015g0150 a0008c0013t0015g0150	1	32	0.0313	32	c.567 others(51): Show c.567-18879_567-18878insCTCTCTATATATATATATATATATAT ATATAT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18977.hp2 HG02155.hp2 NA18977.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0002 a0001c0005 a0003c0002	a0001c0005t0004 a0003c0002t0004 a0001c0005t0004 a0003c0002t0004	a0001c0005t0004g0366 a0003c0002t0004g0359 a0001c0005t0004g0366 a0003c0002t0004g0359	2	33	0.0606	32	c.567 others(51): Show c.567-18879_567-18878insCTCTCTCTCTCTCTCTCTATATATAT ATATAT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18991.hp2 HG02165.hp2 NA18991.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0002 a0001c0005 a0003c0002	a0001c0005t0004 a0003c0002t0004 a0001c0005t0004 a0003c0002t0004	a0001c0005t0004g0367 a0003c0002t0004g0327 a0001c0005t0004g0367 a0003c0002t0004g0327	2	33	0.0606	32	c.567 others(51): Show c.567-18879_567-18878insCTCTCTCTCTCTCTCTCTCTATATAT ATATAT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0001 a0002c0004t0003g0001	2	33	0.0606	32	c.567 others(51): Show c.567-18879_567-18878insCTCTCTCTCTCTCTCTCTCTCTATAT ATATAT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM151B_chr5_80483100_80547563	80538444	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03579.hp2 HG02486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0310 a0001c0001t0001g0311	2	332	0.0060	32	c.672 others(49): Show c.672-3228_672-3227insCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTGT	FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM151B_chr5_80483100_80547563	80538448	C C	CTTTCTTT others(25): Show CTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	224	0.0045	32	c.672 others(49): Show c.672-3224_672-3223insTTCTTTCTCTTTCTTTCTTTCTTTCTTT CTTT	FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM151B_chr5_80483100_80547563	80545706	C C	CATGGTGC others(25): Show CATGGTGCTAGAAGTCAGAATAGTAGTAACCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	354	0.0028	32	c.38 others(43): Show c.3874_*3875insATGGTGCTAGAAGTCAGAATAGTAGTAACCTA	FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding		3144		chr5	TogoVar
FAM161A_chr2_61819848_61859060	61823362	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02647.hp1 HG02723.hp1 others(7): Show HG01346.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0019 a0001c0001t0002 a0002c0002t0002 a0002c0002t0019	a0001c0001t0002g0206 a0001c0001t0002g0251 a0002c0002t0002g0043 others(6): Show a0001c0001t0002g0206 a0001c0001t0002g0251 a0002c0002t0002g0043 a0002c0002t0002g0046 a0002c0002t0002g0204 a0002c0002t0002g0208 a0002c0002t0002g0233 a0002c0002t0002g0240 a0002c0002t0019g0214	10	15	0.6667	32	c.30 others(43): Show c.3092_*3093insATATATATATATATATATATATATATATATAT	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding		1485		chr2	TogoVar
FAM162B_chr6_116747197_116770719	116748831	C C	CGGGGGGG others(25): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	472	0.0021	32	c.37 others(43): Show c.3765_*3766insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	FAM162B	ENSG00000183807.8	transcript	ENST00000368557.6	protein_coding		3365		chr6	TogoVar
FAM162B_chr6_116747197_116770719	116752711	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG06807.hp2 HG03927.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0155 a0001c0001t0001g0084 a0001c0001t0001g0155	2	256	0.0078	32	c.391 others(45): Show c.391-17_391-16insATATATATATATATATATATATATATATATAT	FAM162B	ENSG00000183807.8	transcript	ENST00000368557.6	protein_coding	3/3			chr6	TogoVar
FAM170A_chr5_119624558_119640822	119628488	G G	GGGTTTTT others(25): Show GGGTTTTTTTTTTTTTTTTTTTTTTTTTTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	434	0.0023	32	c.-12 others(43): Show c.-1281_-1280insGGTTTTTTTTTTTTTTTTTTTTTTTTTTTATT	FAM170A	ENSG00000164334.16	transcript	ENST00000695508.1	protein_coding		1069		chr5	TogoVar
FAM184A_chr6_118954763_119083664	118969993	A A	ATAAAATA others(25): Show ATAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG03654.hp2 HG02280.hp1 HG02280.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0109 a0001c0001t0001g0253 a0001c0001t0001g0049 a0001c0001t0001g0109 a0001c0001t0001g0253	3	184	0.0163	32	c.291 others(51): Show c.2916-3042_2916-3041insATATATATATATATATATATATATAT ATTTTA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	50	0.0200	32	c.291 others(51): Show c.2916-3057_2916-3056insAAAAAATATATATATATATATATATA TATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	50	0.0200	32	c.291 others(51): Show c.2916-3057_2916-3056insAAAAAAAAAATATATATATATATATA TATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184B_chr4_17624306_17786621	17628255	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02897.hp1 HG02451.hp1 HG02897.hp1	a0005 a0005	a0005c0010 a0005c0035 a0005c0010 a0005c0035	a0005c0010t0007 a0005c0035t0007 a0005c0010t0007 a0005c0035t0007	a0005c0010t0007g0107 a0005c0035t0007g0139 a0005c0010t0007g0107 a0005c0035t0007g0139	2	29	0.0690	32	c.42 others(43): Show c.4245_*4276dupACACACACACACACACACACACACACACACAC	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding		1050		chr4	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAAGGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(23): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG01069.hp2 HG01168.hp2 HG01256.hp2 HG01433.hp1 HG01981.hp2 HG02071.hp2 HG02129.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02602.hp1 HG03471.hp1 HG03491.hp1 HG03688.hp2 NA18747.hp1 NA18942.hp2 NA18975.hp1 NA18980.hp2 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA19010.hp1 NA19074.hp1	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0015	a0001c0001 a0001c0042 a0003c0003 others(2): Show a0001c0001 a0001c0042 a0003c0003 a0009c0018 a0015c0026	a0001c0001t0001 a0001c0042t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0042t0001 a0003c0003t0001 a0009c0018t0001 a0015c0026t0001	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0026 others(23): Show a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0095 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0229 a0001c0001t0001g0289 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0042t0001g0078 a0003c0003t0001g0126 a0003c0003t0001g0128 a0003c0003t0001g0203 a0003c0003t0001g0310 a0009c0018t0001g0014 a0009c0018t0001g0220 a0015c0026t0001g0201	26	111	0.2342	32	c.650 others(51): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCCTTCTCT CTCTCT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar
FAM193B_chr5_177514789_177559563	177554489	A A	ACGCCGCG others(25): Show ACGCCGCGCCGCCGCCGCCGCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG02698.hp1 HG06807.hp1 others(1): Show HG00140.hp2 HG02698.hp1 HG06807.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0048 a0001c0001t0049 a0001c0001t0037 a0001c0001t0048 a0001c0001t0049	a0001c0001t0037g0238 a0001c0001t0037g0239 a0001c0001t0048g0237 others(1): Show a0001c0001t0037g0238 a0001c0001t0037g0239 a0001c0001t0048g0237 a0001c0001t0049g0236	4	191	0.0209	32	c.-32 others(39): Show c.-32_-31insGCGGCGGCGGCGGCGGCGGCGGCGGCGCGGCG	FAM193B	ENSG00000146067.17	transcript	ENST00000514747.6	protein_coding	1/9	32		chr5	TogoVar
FAM200A_chr7_99541300_99557114	99553068	C C	CATATATA others(25): Show CATATATATATATACACACATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 NA18995.hp2 NA19009.hp1 others(2): Show HG01433.hp1 NA18995.hp2 NA19009.hp1 NA19056.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0002 a0001c0001t0001g0012	5	307	0.0163	32	c.-13 others(43): Show c.-1315_-1314insATATATATATATATGTGTGTATATATATATAT	FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding		955		chr7	TogoVar
FAM20A_chr17_68530116_68606367	68571999	T T	TATATATA others(25): Show TATATATAATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	375	0.0027	32	c.405 others(51): Show c.405-16257_405-16256insTATATATATATATATATATATATATT ATATAT	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar
FAM20A_chr17_68530116_68606367	68575421	A A	ATATATAT others(25): Show ATATATATTATATATTTTATATATTATATATTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0033 a0001c0004t0003g0033	1	367	0.0027	32	c.405 others(51): Show c.405-19710_405-19679dupAAATATATAATATATAAAATATATAA TATATA	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar

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