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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PALLD_chr4_168492052_168933441	168793366	C C	CATATATA others(214): Show CATATATATACATATATATGTGTGCATATATATACATATATATGTGTGCA TATATATACATATATATGTGTGCATATATATACATATATATGTGTGCATA TATATACATATATATGTGTGCATATATATACATATATATGTGTGCATATA TATACATATATATGTGTGCATATATATACATATATATGTGATATATATCG CATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	156	0.0064	221	c.196 others(242): Show c.1964+81451_1964+81452insACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGATATATATCGCATATATATACATATATATGTGATATATAT		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGGC others(214): Show GGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGG CGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGCGGGGG GGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGGGGCGGGGGGGCGGGGG GGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGG GGGCGGGGGGGGCGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0118 a0001c0003t0003g0118	1	221	0.0045	221	c.-95 others(230): Show c.-958_-957insGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGG GGGGCAGCTGGGGCGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGGGCG GGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGGGGC GGGGGGGCGGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGC GGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGGC		PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding					765		chrX	TogoVar
PCGF3_chr4_700832_775089	715322	C C	CTGAGTGT others(214): Show CTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGACACTGTGAG TGTGAGAACCGGGCATCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGC ACTGGGCGTCGGTGCTGGGACCCTGTAGACACTGTGAGTGTGAGAACCGG GCATCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGCACTGGGCGTCGG TGCTGGGACCCTGTAGACACTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0337 a0001c0001t0012g0337	1	366	0.0027	221	c.-19 others(240): Show c.-190+9385_-190+9386insCTGTAGACACTGTGAGTGTGAGAACC GGGCATCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGCACTGGGCGTC GGTGCTGGGACCCTGTAGACACTGTGAGTGTGAGAACCGGGCATCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGCACTGGGCGTCGGTGCTGGGACC CTGTAGACACTGTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(214): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCA CTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCC CCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCC CCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0218 a0001c0011t0001g0218	1	336	0.0030	221	c.-37 others(232): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTG GGGAGGGGATGGGGGAGGGGAGGGGGAGGGGGAGGGGGGGAGGGGATGAG GGAGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding					3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(214): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCA CTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCC CCCCTCCCCCTCCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCCTC CCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02080.hp1 HG00438.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0271 a0001c0002t0001g0149 a0001c0001t0002g0271 a0001c0002t0001g0149	2	336	0.0060	221	c.-37 others(232): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGG GGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGGGGGGAGGGGATGAG GGAGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding					3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(214): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCA CTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCC CCCCTCCCCCTCCCCCTCCCCCTCCCCCATCCCCTCCCCACTCCCCCCTC CCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	336	0.0030	221	c.-37 others(232): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGGAGTG GGGAGGGGATGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGATGAG GGAGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding					3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(214): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCA CTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCC CCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCCTCC CCCTCCCCACTCCCCCTCCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0001 a0004c0025t0001	a0004c0025t0001g0325 a0004c0025t0001g0325	1	336	0.0030	221	c.-37 others(232): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGCAGGGGAGGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGGAGT GGGGAGGGGATGGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGATGAG GGAGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding					3663		chr15	TogoVar
PDXK_chr21_43714129_43767299	43741165	G G	GGGGGGCT others(214): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGC GGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0260 a0001c0001t0024g0261 a0001c0001t0002g0260 a0001c0001t0024g0261	2	358	0.0056	221	c.143 others(236): Show c.143-497_143-496insCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT GGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741165	G G	GGGGGGCT others(214): Show GGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGG CTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGC TCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTGGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0329 a0001c0001t0085g0329	1	358	0.0028	221	c.143 others(236): Show c.143-497_143-496insCTGGCGGGGGGCTGGCGGGGGGCTCGCGGG GGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTG GCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTGGCGGGGGGGCTCGCGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741280	G G	GGGGGGCT others(214): Show GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGC CTCGCGGGGGGCTGGCGGGGGCCTCGCGGGGGGGCTCGCGGGGGGCTGGC GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGC GGGGGGCTGGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	358	0.0028	221	c.143 others(236): Show c.143-382_143-381insCTCGCGGGGGGCTGGCGGGGGGCTGGCGGG GGGCTGGCGGGGGCCTCGCGGGGGGCTGGCGGGGGCCTCGCGGGGGGGCT CGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCT GGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(214): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAG GGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAGG GGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGGGG AGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGTAAGAGGAGGGGAAGGG AAAGGGAAAGGGGAAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	396	0.0025	221	c.-48 others(232): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGGAAGGAGAAGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGG GAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAG GGAAGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGTA AGAGGAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAGG		PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding					4765		chr11	TogoVar
PELI3_chr11_66461905_66482337	66462155	G G	GGTGGGGG others(214): Show GGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAGGGGGAAGGGGAGGGGA GGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAGGGGGAGGGGGAGGAGA AGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGGGGAGGAGGAGTGGGAGG GGAAGGGGAGGGGAAGGGAAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAA GGGGAGGGGGAGGGGAAGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	396	0.0025	221	c.-48 others(232): Show c.-4874_-4873insGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAGG GGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAGG GGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGGGG AGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGAAGAGGAAGGGGAAGGG AAAGGGAAAGGGGAAGGGGAGGGGGAGGGGAAGGGAA		PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding					4749		chr11	TogoVar
PIAS4_chr19_4002736_4044386	4011707	T T	TGGGGTGT others(214): Show TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGT GTGGGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTTTGGTGTGGAGGTGTGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	334	0.0030	221	c.28- others(236): Show c.28-1080_28-1079insTTGGTGTGGAGGTGTGGGGGGTGTGGAGGT GTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGGGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT		PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
PLCXD1_chrX_276381_308356	280844	C C	CCGTGCAG others(214): Show CCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAAGGGAG GCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGG AGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAG GCCGTGCAGGCAGAGGGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01175.hp2 HG00099.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0063 a0001c0003t0014 a0001c0003t0063	a0001c0003t0014g0048 a0001c0003t0063g0049 a0001c0003t0014g0048 a0001c0003t0063g0049	2	176	0.0114	221	c.-86 others(230): Show c.-862_-861insCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCG GAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGC AGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGG GAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGC AGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGA		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding					536		chrX	TogoVar
PLEKHA4_chr19_48832097_48873617	48834897	G G	GGCCTGGA others(214): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGT CTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18964.hp2 NA18974.hp1 others(1): Show NA18963.hp2 NA18964.hp2 NA18974.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0200 a0001c0001t0001g0202 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0208	4	300	0.0133	221	c.23 others(232): Show c.2391_*2392insTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC TCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2199		chr19	TogoVar
PLEKHN1_chr1_961482_980865	977809	A A	ACTCCCCC others(214): Show ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCGCGCAACCCCGG GAACCCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGAAC CGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCAC CAACCCCGGGAACCGCCTGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0001 a0001c0001t0042g0001	1	422	0.0024	221	c.32 others(232): Show c.3234_*3235insCTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCGCGCAACCCCGGGAACCCGCCTCCCACTCCCCCCACCAACCCCGGGA ACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCC CACCAACCCCGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCC		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1945		chr1	TogoVar
POR_chr7_75910155_75991855	75988980	G G	GGGGTGGA others(214): Show GGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGG GGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGGTGGG GGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAGGG GGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGG GGTGTGGAGGGGAAGGCCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03834.hp1 HG03017.hp1 HG03834.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0212 a0002c0001t0002g0226 a0002c0001t0002g0212 a0002c0001t0002g0226	2	278	0.0072	221	c.24 others(232): Show c.2499_*2500insGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGG GGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGG GGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGG GGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGG GGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGGT		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					2126		chr7	TogoVar
PPP6R2_chr22_50338327_50450090	50344282	C C	CCCCCTTC others(214): Show CCCCCTTCAGTCAGTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCC CAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCA GTGCCCCCTCCATCAGTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCC CCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCCAG TCAGTGCCCCCTCCAGTCAGTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0046	1	340	0.0029	221	c.-14 others(238): Show c.-148+736_-148+737insTTCAGTCAGTTCCCCCAGTCAGTGCCCC CTCCAGTCAGTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAG TCAGTGCCCCCCAGTCAGTGCCCCCTCCATCAGTTCCCCCCAGTCAGTGC CCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTC CAGTCAATTCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCC		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PROZ_chr13_113153648_113177386	113154293	A A	AGGGCGCG others(214): Show AGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGT GGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGG GAGGCGGGGCGCGGGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	378	0.0027	221	c.-43 others(232): Show c.-4368_-4367insGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGC GCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTG GGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTG ACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding					4354		chr13	TogoVar
PRPF31_chr19_54110754_54136713	54133855	T T	TCTCCCTC others(214): Show TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCC CCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTC TCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCT CCCCTCCCTCTCTCCACCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	227	0.0044	221	c.24 others(232): Show c.2423_*2424insCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTC CCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCCACCTCCCCTCCCTCTCTCCACCTCCC		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2143		chr19	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(214): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTC TGCTCCCCTCTCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCC CCTCTCCCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCC CTCCCCCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0069 a0001c0019t0001g0069	1	94	0.0106	221	c.191 others(242): Show c.191-103924_191-103923insCTCTCCTCTCCTCTCCTCTCCACT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCT CCTCTGCTCCCCTCTCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCC CTCCCCTCTCCCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCC TCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61987705	T T	TAAAATTC others(214): Show TAAAATTCCTATTTTGTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC CGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0071 a0003c0004t0002g0071	1	94	0.0106	221	c.191 others(238): Show c.191-1905_191-1904insTACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTCCTATTTTG		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB40B_chr17_82649973_82703698	82671892	C C	CCTCACCC others(214): Show CCTCACCCCTGTAACTCAAACCACACACACACCCTGTACTCACTGACACA CCCCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTCAC TGACACAGCTCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTG TACTCACTGACACACCCCACCCCTGTAACTCTAACACACACACTCACACG CTCCCTGTACCCACTGACACAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02145.hp2 others(7): Show HG01243.hp1 HG01891.hp1 HG02145.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0034 a0001c0001t0037	a0001c0001t0002g0020 a0001c0001t0005g0275 a0001c0001t0007g0010 others(7): Show a0001c0001t0002g0020 a0001c0001t0005g0275 a0001c0001t0007g0010 a0001c0001t0007g0225 a0001c0001t0007g0254 a0001c0001t0007g0274 a0001c0001t0007g0279 a0001c0001t0012g0215 a0001c0001t0034g0273 a0001c0001t0037g0318	10	338	0.0296	221	c.143 others(238): Show c.143-7337_143-7336insCTGTGTCAGTGGGTACAGGGAGCGTGTG AGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGA GCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCAGTGAGT ACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTC AGTGAGTACAGGGTGTGTGTGTGGTTTGAGTTACAGGGGTGAG		RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5						chr17	TogoVar
RNF213_chr17_80255852_80403794	80355672	A A	AGAGGAAG others(214): Show AGAGGAAGAAGCGGGGTGGACGGGAATGGGGGCTCACAGAGGAAGAAGCG GGGTGAATGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGGACGGGAA TGGGGGCTTATGGAGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGG AGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGG GTGAATGGGAATGGGGGCTTAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0005 a0004c0011t0019 a0004c0011t0005 a0004c0011t0019	a0004c0011t0005g0210 a0004c0011t0019g0229 a0004c0011t0005g0210 a0004c0011t0019g0229	2	292	0.0069	221	c.108 others(242): Show c.10862+1097_10862+1098insAGGAAGAAGCGGGGTGGACGGGAA TGGGGGCTCACAGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTATGG AGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAGAAGCGGG GTGGACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATG GGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
ROBO1_chr3_78592239_79772998	79612872	G G	GCAAGTAC others(214): Show GCAAGTACTAGAGGAGGACTTGATATATAAATTGTAAATCACATGAAGGC AAAATAGCAACACAGCATTCTGTGGCAGTGACTTCTGCAGTGTTTGTAAA AGATAATAGTCTGTTCTGCGAAGGACATGAACAGACTATTATCTTTTACA AACACTGCAGAAGTCACTGCCACAGAATGCTGTGTTGGTATTTCGCCTTC ATGTGATTTACAATTTATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01884.hp1 others(9): Show HG01109.hp1 HG01243.hp2 HG01884.hp1 HG01978.hp2 HG02055.hp2 HG02717.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03490.hp2 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(8): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0002t0001 a0001c0002t0016 a0001c0003t0002 a0001c0005t0002 a0001c0005t0005 a0001c0007t0003 a0001c0008t0015	a0001c0001t0003g0036 a0001c0001t0005g0035 a0001c0001t0008g0024 others(9): Show a0001c0001t0003g0036 a0001c0001t0005g0035 a0001c0001t0008g0024 a0001c0001t0012g0027 a0001c0002t0001g0028 a0001c0002t0016g0044 a0001c0003t0002g0033 a0001c0005t0002g0029 a0001c0005t0002g0030 a0001c0005t0005g0004 a0001c0007t0003g0003 a0001c0008t0015g0043	12	44	0.2727	221	c.-50 others(240): Show c.-50-22912_-50-22911insATATATAAATTGTAAATCACATGAAG GCGAAATACCAACACAGCATTCTGTGGCAGTGACTTCTGCAGTGTTTGTA AAAGATAATAGTCTGTTCATGTCCTTCGCAGAACAGACTATTATCTTTTA CAAACACTGCAGAAGTCACTGCCACAGAATGCTGTGTTGCTATTTTGCCT TCATGTGATTTACAATTTATATATCAAGTCCTCCTCTAGTACTTG		ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	1/30						chr3	TogoVar
ROBO1_chr3_78592239_79772998	79612872	G G	GCAAGTAC others(214): Show GCAAGTACTAGAGGAGGACTTGATATATAAATTGTAAATCACATGAAGGC GAAATAGCAACACAGCATTCTGTGGCAGTGACTTCTGCAGTGTTTGTAAA AGATAATAGTCTGTTCTGCGAAGGACATGAACAGACTATTATCTTTTACA AACACTGCAGAAGTCACTGCCACAGAATGCTGTGTTGGTATTTCGCCTTC ATGTGATTTACAATTTATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01884.hp2 others(24): Show HG01109.hp2 HG01243.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02717.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0011 a0002c0004 a0003c0006 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0003t0001 a0001c0003t0006 a0001c0008t0003 a0001c0011t0001 a0002c0004t0001 a0002c0004t0007 a0003c0006t0006 a0003c0009t0017	a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0022 others(24): Show a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0002g0007 a0001c0001t0002g0039 a0001c0001t0005g0005 a0001c0001t0009g0006 a0001c0001t0011g0025 a0001c0001t0014g0041 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0003g0016 a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0002t0004g0017 a0001c0002t0004g0021 a0001c0002t0013g0008 a0001c0003t0001g0023 a0001c0003t0006g0018 a0001c0008t0003g0037 a0001c0011t0001g0038 a0002c0004t0001g0015 a0002c0004t0007g0009 a0002c0004t0007g0010 a0003c0006t0006g0011 a0003c0006t0006g0040 a0003c0009t0017g0042	27	44	0.6136	221	c.-50 others(240): Show c.-50-22912_-50-22911insATATATAAATTGTAAATCACATGAAG GCGAAATACCAACACAGCATTCTGTGGCAGTGACTTCTGCAGTGTTTGTA AAAGATAATAGTCTGTTCATGTCCTTCGCAGAACAGACTATTATCTTTTA CAAACACTGCAGAAGTCACTGCCACAGAATGCTGTGTTGCTATTTCGCCT TCATGTGATTTACAATTTATATATCAAGTCCTCCTCTAGTACTTG		ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	1/30						chr3	TogoVar
ROBO1_chr3_78592239_79772998	79612872	G G	GCAAGTAC others(214): Show GCAAGTACTAGAGGAGGACTTGATATATAAATTGTAAATCACATGAAGGT GAAATAGCAACACAGCATTCTGTGGCAGTGACTTCTGCAGTGTTTGTAAA AGATAATAGTCTGTTCTGCGAAGGACATGAACAGACTATTATCTTTTACA AACACTGCAGAAGTCACTGCCACAGAATGCTGTGTTGGTATTTCGCCTTC ATGTGATTTACAATTTATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02451.hp2 HG02922.hp2 others(2): Show HG01978.hp1 HG02451.hp2 HG02922.hp2 HG03225.hp2 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0010 a0001c0001 a0001c0007 a0004c0010	a0001c0001t0001 a0001c0001t0010 a0001c0007t0003 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0007t0003 a0004c0010t0002	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0010g0034 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0010g0034 a0001c0007t0003g0032 a0004c0010t0002g0031	5	44	0.1136	221	c.-50 others(240): Show c.-50-22912_-50-22911insATATATAAATTGTAAATCACATGAAG GCGAAATACCAACACAGCATTCTGTGGCAGTGACTTCTGCAGTGTTTGTA AAAGATAATAGTCTGTTCATGTCCTTCGCAGAACAGACTATTATCTTTTA CAAACACTGCAGAAGTCACTGCCACAGAATGCTGTGTTGCTATTTCACCT TCATGTGATTTACAATTTATATATCAAGTCCTCCTCTAGTACTTG		ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	1/30						chr3	TogoVar
RPA2_chr1_27886524_27919575	27917106	G G	GCTTCTTC others(214): Show GCTTCTTCTTCTCCTCCTTGTCCTCCTTCTCCTTCCTCCTTCCCTCCCTC CTTCCTTCCTTCCTTCTTCTCCCCCCCTTCCTTCCTCCTTCCTCCCTCCT CCTCCTCCTGCTTCTTCTTCTCCTCCTTGTCCTCCTTCTCCTTCCTCCTT CCCTCCCTCCTTCCTTCCTTCCTTCTTCTCCCCCCCTTCCTTCCTCCTTC CTCCCTCCTCCTCCTCCTGCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0208 a0001c0001t0011g0208	1	364	0.0028	221	c.-26 others(232): Show c.-2664_-2663insAAGCAGGAGGAGGAGGAGGGAGGAAGGAGGAAGG AAGGGGGGGAGAAGAAGGAAGGAAGGAAGGAGGGAGGGAAGGAGGAAGGA GAAGGAGGACAAGGAGGAGAAGAAGAAGCAGGAGGAGGAGGAGGGAGGAA GGAGGAAGGAAGGGGGGGAGAAGAAGGAAGGAAGGAAGGAGGGAGGGAAG GAGGAAGGAGAAGGAGGACAAGGAGGAGAAGAAGAAG		RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding					2532		chr1	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(214): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0240 a0001c0005t0002g0240	1	376	0.0027	221	c.-58 others(228): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC		RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding					41		chr5	TogoVar
SBNO2_chr19_1102638_1179268	1166045	T T	TCCCAAAA others(214): Show TCCCAAAACCCAGACCCCAGACCTCAGACCTCAGACCCCCAGACCCCAGA TCCCAGACCCCAGACCTCAGACCCCAGATCCCAGACCCCAGATCACCGGA TCTCAGACCCCAGACCCCAGATCCCAGACTTCAGATCCCTAGACCTCAGA CCCCAGACCCCAGACCCCAAACCTCAGACCCCAGATCCCAGACCTCAGAC CCCAGACCCCAGACTTCAGATC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	203	0.0049	221	c.-12 others(240): Show c.-127+8126_-127+8127insGATCTGAAGTCTGGGGTCTGGGGTCT GAGGTCTGGGATCTGGGGTCTGAGGTTTGGGGTCTGGGGTCTGGGGTCTG AGGTCTAGGGATCTGAAGTCTGGGATCTGGGGTCTGGGGTCTGAGATCCG GTGATCTGGGGTCTGGGATCTGGGGTCTGAGGTCTGGGGTCTGGGATCTG GGGTCTGGGGGTCTGAGGTCTGAGGTCTGGGGTCTGGGTTTTGGG		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31						chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1284167	G G	GGGTGGGG others(214): Show GGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGG GGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGT TGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGGTTGA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0137 a0003c0004t0003g0137	1	290	0.0035	221	c.464 others(234): Show c.464+78_464+79insGTGGGGGGGTTGGGTGAGGGGGGTGGGGTTGG GGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGT GAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGGTG GGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGGTTGAG		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284178	T T	TGGGTGAG others(214): Show TGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGG TTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGTGGGGGGGGTTGAGTGAGGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGAGTGAGGGGGTTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	290	0.0035	221	c.464 others(234): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGGTTGAGTGAGGGGGGGTGGG GTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTG AGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGG		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3C_chr7_80737538_80924051	80863884	T T	TATATATG others(214): Show TATATATGTATCACATATATATGTATCACATATATATGTATCACATATAT ATGTATCACATATATATGTATCACATATATATGTATCACATATATATGTA TCACATATATATGTATCACATATATATGTATCACATATATATGTATCACA TATATATGTATCACATATATATGTATCACATATATATGTATCACATATAT ATGTATCACACATATATCACAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	244	0.0041	221	c.104 others(240): Show c.104-35140_104-35139insGTGTGATATATGTGTGATACATATAT ATGTGATACATATATATGTGATACATATATATGTGATACATATATATGTG ATACATATATATGTGATACATATATATGTGATACATATATATGTGATACA TATATATGTGATACATATATATGTGATACATATATATGTGATACATATAT ATGTGATACATATATATGTGATACATATATATGTGATACATATAT		SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17						chr7	TogoVar
SHC2_chr19_411589_466033	432352	T T	TGGCGCTT others(214): Show TGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGG CAGATAGATGGCGCTTCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGG CCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGAT AGAGGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAG TGAGAGTTAGAGGAGGCCAGGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0080 a0001c0007t0002g0080	1	212	0.0047	221	c.111 others(240): Show c.1111-1606_1111-1605insGCCTGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCTGGCCTCCTCTATCT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTC CTCTATCTCTCACTCACGATCTCACTCACGAAGCGCCATCTATCTGCCCG GCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCC		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12						chr19	TogoVar
SHC2_chr19_411589_466033	433102	T T	TGGCGCTT others(214): Show TGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGG CAGATAGATGGCGCTTCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGG CCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGAT AGAGGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAG TGAGAGTTAGAGGAGGCCAGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0005 a0004c0011t0005	a0004c0011t0005g0059 a0004c0011t0005g0059	1	212	0.0047	221	c.111 others(240): Show c.1110+1606_1110+1607insGCCTGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCTGGCCTCCTCTATCT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTC CTCTATCTCTCACTCACGATCTCACTCACGAAGCGCCATCTATCTGCCCG GCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCC		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12						chr19	TogoVar
SIGIRR_chr11_400716_419999	401973	C C	CCCGCTCA others(214): Show CCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCG CTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCAC CCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGG ACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGAC CCGCTCACCCCCGACCCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	242	0.0041	221	c.39 others(232): Show c.3922_*3923insTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAG CGGGGCCGGGTGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCG GGTCGGGGGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCG GGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCGGGTGT GAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3742		chr11	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(214): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTC TCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	410	0.0024	221	c.152 others(238): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGA GAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA		SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10						chr19	TogoVar
SLC7A1_chr13_29504414_29600688	29558229	G G	GGGGGACT others(214): Show GGGGGACTGAATCTGAATGGGGGGGAGTGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAGTG AGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAG AATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAGT GAGGGGGAGTGAATGTGAGTGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG02615.hp2 HG02622.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0017 a0001c0009t0017	a0001c0009t0017g0047 a0001c0009t0017g0048 a0001c0009t0017g0047 a0001c0009t0017g0048	2	330	0.0061	221	c.-11 others(240): Show c.-114-4370_-114-4369insTCACTCACATTCACTCCCCCTCACTC ACATTCACTCCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCTCT CCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACTCCCCCTCACT CACATTCACTCCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCAC TCCCCCTCACTCACATTCACTCCCCCCCATTCAGATTCAGTCCCC		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLCO3A1_chr15_91848708_92170903	92143467	T T	TAATATAT others(214): Show TAATATATATATTATATATAATATATATAAAATATATATATTATATATAA TATATATAAAATATATATATTATATATAATATATATATTATATATAATAT ATATAAAATATATATATTATATATAATATATATAAAATATATATATATAA AAAATATATATTATATAATATATATAAAATATATATATTATATAATATAT ATATATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04115.hp1 HG03942.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0130 a0001c0002t0001g0061 a0001c0002t0001g0130	2	190	0.0105	221	c.151 others(240): Show c.1513-3515_1513-3514insTATATATATTATATATAATATATATA AAATATATATATTATATATAATATATATAAAATATATATATTATATATAA TATATATATTATATATAATATATATAAAATATATATATTATATATAATAT ATATAAAATATATATATATAAAAAATATATATTATATAATATATATAAAA TATATATATTATATAATATATATATATAATATATATATATATAAA		SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143467	T T	TAATATAT others(214): Show TAATATATATATTATATATAATATATATAAAATATATATATTATATATAA TATATATATTATATATAATATATATAAAATATATATATTATATATAATAT ATATAAAATATATATATTATATATAATATATATAAAATATATATATATAA AAAATATATATTATATAATATATATAAAATATATATATTATATAATATAT ATATATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0169 a0001c0001t0006g0169	1	190	0.0053	221	c.151 others(240): Show c.1513-3515_1513-3514insTATATATATTATATATAATATATATA AAATATATATATTATATATAATATATATATTATATATAATATATATAAAA TATATATATTATATATAATATATATAAAATATATATATTATATATAATAT ATATAAAATATATATATATAAAAAATATATATTATATAATATATATAAAA TATATATATTATATAATATATATATATAATATATATATATATAAA		SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92146867	A A	ATTAATGG others(214): Show ATTAATGGAATGCCACAGAATGTGTAATTAGGCTGTGACAGATTCAGCTG ATGGATGGCTTTGCCTTTGGAAACCGGAAGTACCCCCAGATAAAAGGGCT GAACGCTTCCCTTTCAGAATCTCACGGGCTGTGCGTGCCTCACCACCGTC CCTGCTGAGAACGCAACCGTGGTTCCTGGAAAATGCCCCAGTCCTGGGTG CCAAGAGGCCTTCCTCACTTTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0168 a0001c0001t0009g0168	1	190	0.0053	221	c.151 others(234): Show c.1513-116_1617dupTTAATGGAATGCCACAGAATGTGTAATTAGGC TGTGACAGATTCAGCTGATGGATGGCTTTGCCTTTGGAAACCGGAAGTAC CCCCAGATAAAAGGGCTGAACGCTTCCCTTTCAGAATCTCACGGGCTGTG CGTGCCTCACCACCGTCCCTGCTGAGAACGCAACCGTGGTTCCTGGAAAA TGCCCCAGTCCTGGGTGCCAAGAGGCCTTCCTCACTTTC	p.Cys others(5): Show p.Cys541fs	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	8/10	1819/5102	1618/2133	540/710		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMCHD1_chr18_2650726_2810017	2768669	T T	TACACTAT others(214): Show TACACTATATACTATACTAGTATAGTATATAGTACACTATATACTATACT AGTATAGTATATAGTACACTATATACTATACTAGTATAGTATATAGTACA CTATATACTATACTAGTATAGTATATAGTACACTATATACTATACTAGTA TAGTATATAGTACACTATATACTATACTACTAGTATAGTATATAGTACAC TATATACTATACTACTAGTATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0167 a0001c0002t0003g0167	1	340	0.0029	221	c.472 others(240): Show c.4720-1025_4720-1024insACACTATATACTATACTAGTATAGTA TATAGTACACTATATACTATACTAGTATAGTATATAGTACACTATATACT ATACTAGTATAGTATATAGTACACTATATACTATACTAGTATAGTATATA GTACACTATATACTATACTAGTATAGTATATAGTACACTATATACTATAC TACTAGTATAGTATATAGTACACTATATACTATACTACTAGTATA		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	37/47						chr18	TogoVar
SORCS2_chr4_7187538_7747827	7448836	T T	TTCCCTCC others(214): Show TTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCTCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTTCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0099 a0001c0001t0018g0099	1	168	0.0060	221	c.548 others(240): Show c.548+52487_548+52488insCCTCCCTCCCTCCCTTCCTCCCTCCC TTCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTC		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX11_chr2_5687384_5706385	5706141	A A	AGGGAGAC others(214): Show AGGGAGACTGGGGTAGAGGAGCAGGGAGACTGGGGTGGAGGAGCTGGGAG GCCAGGGTGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGG GGTAGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGA GGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCA GGGAGGCTGGGGTGGAGGAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG00741.hp1 others(20): Show HG00099.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02109.hp1 HG02300.hp1 HG02970.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA19007.hp2 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0019 a0001c0001t0043 others(8): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0043 a0001c0001t0063 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0070 a0001c0001t0118 a0001c0001t0194 a0001c0003t0064	a0001c0001t0003g0000 a0001c0001t0019g0000 a0001c0001t0043g0000 others(8): Show a0001c0001t0003g0000 a0001c0001t0019g0000 a0001c0001t0043g0000 a0001c0001t0063g0000 a0001c0001t0066g0000 a0001c0001t0067g0000 a0001c0001t0069g0000 a0001c0001t0070g0000 a0001c0001t0118g0000 a0001c0001t0194g0000 a0001c0003t0064g0000	23	434	0.0530	221	c.12 others(234): Show c.12094_*12095insGGGAGACTGGGGTAGAGGAGCAGGGAGACTGG GGTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGGTAG AGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTGGAGGAGC AGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAG ACTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCT		SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding					4757		chr2	TogoVar
SP100_chr2_230411201_230550606	230499510	A A	ATAAATAT others(214): Show ATAAATATATATAGATAGATATATATTTATATATATATATTTATATATAT AAATATATATAGATAGATATCTATCTATATATACTTATATATATAAATAT ATATATTTATTTTTTTATATATAAAATATATATATTTATATATATATTTT ATATATATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATT CCCCCACTAGAATGGCAGAAGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0004 a0006c0016t0004	a0006c0016t0004g0281 a0006c0016t0004g0281	1	290	0.0035	221	c.172 others(238): Show c.1720+975_1720+976insTAAATATATATAGATAGATATATATTTA TATATATATATTTATATATATAAATATATATAGATAGATATCTATCTATA TATACTTATATATATAAATATATATATTTATTTTTTTATATATAAAATAT ATATATTTATATATATATTTTATATATATAGATATATATATCTATATATT TATTTCCTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGC		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28						chr2	TogoVar
SP100_chr2_230411201_230550606	230499510	A A	ATAAATAT others(214): Show ATAAATATATATAGATAGATATATATTTTTATATATATATTTATATATAT AAATATATATAGATAGATATCTATCTATATATACTTATATATATAAATAT ATATATTTATTTTTTTATATATAAAATATATATATTTATATATATATTTT ATATATATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATT CCCCCACTAGAATGGCAGAAGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01516.hp2 HG02129.hp2 others(3): Show HG00140.hp1 HG01516.hp2 HG02129.hp2 HG03491.hp2 HG03654.hp1 HG03942.hp1	a0004 a0004	a0004c0006 a0004c0015 a0004c0006 a0004c0015	a0004c0006t0004 a0004c0015t0004 a0004c0006t0004 a0004c0015t0004	a0004c0006t0004g0152 a0004c0006t0004g0181 a0004c0006t0004g0237 others(3): Show a0004c0006t0004g0152 a0004c0006t0004g0181 a0004c0006t0004g0237 a0004c0006t0004g0278 a0004c0006t0004g0283 a0004c0015t0004g0153	6	290	0.0207	221	c.172 others(238): Show c.1720+975_1720+976insTAAATATATATAGATAGATATATATTTT TATATATATATTTATATATATAAATATATATAGATAGATATCTATCTATA TATACTTATATATATAAATATATATATTTATTTTTTTATATATAAAATAT ATATATTTATATATATATTTTATATATATAGATATATATATCTATATATT TATTTCCTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGC		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28						chr2	TogoVar
SP100_chr2_230411201_230550606	230499510	A A	ATAAATAT others(214): Show ATAAATATATATAGATAGATATATATTTTTATATATATATTTATATATAT AAATATATATAGATAGATATCTATCTATATATATTTATATATATAAATAT ATATATTTATTTTTTTATATATAAAATATATATATTTATATATATATTTT ATATATATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATT CCCCCACTAGAATGGCAGAAGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02622.hp2 others(10): Show HG02145.hp1 HG02486.hp1 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG03195.hp1 HG03927.hp2 HG06807.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0005 a0004c0006 a0002c0002 a0002c0005 a0004c0006	a0002c0002t0011 a0002c0002t0013 a0002c0005t0001 others(2): Show a0002c0002t0011 a0002c0002t0013 a0002c0005t0001 a0002c0005t0013 a0004c0006t0004	a0002c0002t0011g0119 a0002c0002t0011g0144 a0002c0002t0011g0156 others(10): Show a0002c0002t0011g0119 a0002c0002t0011g0144 a0002c0002t0011g0156 a0002c0002t0011g0157 a0002c0002t0011g0158 a0002c0002t0011g0159 a0002c0002t0013g0037 a0002c0002t0013g0058 a0002c0005t0001g0057 a0002c0005t0013g0036 a0002c0005t0013g0127 a0002c0005t0013g0288 a0004c0006t0004g0179	13	290	0.0448	221	c.172 others(238): Show c.1720+975_1720+976insTAAATATATATAGATAGATATATATTTT TATATATATATTTATATATATAAATATATATAGATAGATATCTATCTATA TATATTTATATATATAAATATATATATTTATTTTTTTATATATAAAATAT ATATATTTATATATATATTTTATATATATAGATATATATATCTATATATT TATTTCCTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGC		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28						chr2	TogoVar
SP100_chr2_230411201_230550606	230499510	A A	ATATATAT others(214): Show ATATATATAGATAGATATATATTTTTATATATATATTTATATATATAAAT ATATATAGATAGATAGATATCTATCTATATATATTTATATATATAAATAT ATATATTTATTTTTTTATATATAAAATATATATATTTATATATATATTTT ATATATATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATT CCCCCACTAGAATGGCAGAAGC	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA19079.hp1 HG02148.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0286 a0001c0001t0002g0196 a0001c0001t0002g0286	2	290	0.0069	221	c.172 others(238): Show c.1720+975_1720+976insTATATATAGATAGATATATATTTTTATA TATATATTTATATATATAAATATATATAGATAGATAGATATCTATCTATA TATATTTATATATATAAATATATATATTTATTTTTTTATATATAAAATAT ATATATTTATATATATATTTTATATATATAGATATATATATCTATATATT TATTTCCTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGC		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28						chr2	TogoVar
SP100_chr2_230411201_230550606	230499510	A A	ATATATAT others(214): Show ATATATATAGATAGATATATATTTTTATATATATATTTATATATATAAAT ATATATAGATAGATATATATCTATCTATATATATTTATATATATAAATAT ATATATTTATTTTTTTATATATAAAATATATATATTTATATATATATTTT ATATATATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATT CCCCCACTAGAATGGCAGAAGC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01081.hp1 HG02040.hp1 others(8): Show HG00673.hp1 HG01081.hp1 HG02040.hp1 HG02109.hp1 HG03139.hp1 NA18977.hp2 NA18984.hp1 NA19002.hp1 NA19003.hp1 NA19083.hp2 NA19087.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0003 a0001c0017 others(3): Show a0001c0001 a0001c0003 a0001c0017 a0002c0005 a0006c0014 a0008c0022	a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 a0001c0003t0004 a0001c0003t0019 a0001c0017t0002 a0002c0005t0005 a0006c0014t0004 a0008c0022t0005	a0001c0001t0002g0195 a0001c0001t0005g0134 a0001c0001t0005g0155 others(8): Show a0001c0001t0002g0195 a0001c0001t0005g0134 a0001c0001t0005g0155 a0001c0001t0005g0229 a0001c0001t0019g0064 a0001c0003t0004g0098 a0001c0003t0019g0180 a0001c0017t0002g0017 a0002c0005t0005g0011 a0006c0014t0004g0205 a0008c0022t0005g0013	11	290	0.0379	221	c.172 others(238): Show c.1720+975_1720+976insTATATATAGATAGATATATATTTTTATA TATATATTTATATATATAAATATATATAGATAGATATATATCTATCTATA TATATTTATATATATAAATATATATATTTATTTTTTTATATATAAAATAT ATATATTTATATATATATTTTATATATATAGATATATATATCTATATATT TATTTCCTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGC		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28						chr2	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(214): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTC CCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCC TCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	418	0.0024	221	c.54 others(232): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG		SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding					3978		chr17	TogoVar

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