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
RNF180_chr5_64160843_64377869	64249543	T T	TAAGAAAT others(312): Show TAAGAAATGCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0186 a0001c0001t0005g0186	1	250	0.0040	319	c.122 others(340): Show c.1227+32158_1227+32159insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGCTA	RNF180	ENSG00000164197.12	transcript	ENST00000389100.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ROCK2_chr2_11174759_11349636	11286234	T T	TTAAGCAG others(312): Show TTAAGCAGATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0088 a0002c0002t0003g0088	1	320	0.0031	319	c.324 others(334): Show c.324+304_324+305insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAACATCTGCTTA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	3/32			chr2	TogoVar
RPA2_chr1_27886524_27919575	27916152	T T	TAAACAGA others(312): Show TAAACAGATTTCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCAGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCAC TCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AACAAACAAACAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 NA20129.hp1 HG03098.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0203 a0001c0001t0006g0204	2	364	0.0055	319	c.-17 others(330): Show c.-1710_-1709insTTTTTTTTTGTTTGTTTGTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGA TCTCCGCTCACTGCAAGCTCCGCCTTCTGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGGGAAATCTGTTT	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		1578		chr1	TogoVar
RPA3_chr7_7631518_7723607	7718904	T T	TAAAGCTT others(312): Show TAAAGCTTCCCAAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	308	0.0033	319	c.-14 others(330): Show c.-1470_-1469insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCC GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCACTTGGGAAGCTTT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding		298		chr7	TogoVar
RSPH1_chr21_42467486_42501224	42477142	C C	CCCCCTCC others(312): Show CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCCTCCA CCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGC CCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATG CCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACC CTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCC ACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGG GGATGCCCCACACCCTCTGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	408	0.0025	319	c.727 others(334): Show c.727+148_727+149insTCAGAGGGTGTGGGGCATCCCCGGGCTGTG GGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGG GGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGC ATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGG CTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGT GGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGAC AGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(312): Show CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGTCCCATAGCCCGGGGGTGCCCCACACCC TCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGG GGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCA CACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	408	0.0025	319	c.727 others(332): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA CCCCCGGGCTATGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG GAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCA GAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RTN1_chr14_59590983_59875776	59659954	T T	TAAAGAGT others(312): Show TAAAGAGTCGAAACCCGGGCCGGGCGCGGTGGCTCACGCCTGTGGTCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TGGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 NA18906.hp1 HG02145.hp1 HG02622.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0100 a0001c0001t0001g0156 a0001c0001t0001g0053 a0001c0001t0001g0100 a0001c0001t0001g0156	3	172	0.0174	319	c.176 others(340): Show c.1766-52463_1766-52462insTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCCAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ACCACAGGCGTGAGCCACCGCGCCCGGCCCGGGTTTCGACTCTTT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	3/8			chr14	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(312): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAG GGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGA AGAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAG GAGAAGGAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp1 homoSapiens_chm13v2.hp1 HG00280.hp1 HG01109.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0040 a0001c0001t0002g0008 a0001c0001t0002g0040	3	396	0.0076	319	c.807 others(336): Show c.807-1376_807-1375insTTCTCCTCCTCCTCCTTCTCCTCCTCCT CCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTTC CTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCCC CCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTC CTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCC CCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCT CCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTP5_chr2_241864729_241878823	241877949	T T	TGCTCCCC others(312): Show TGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCT CCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCC TCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTC TCCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCCTCCCTCTCCCG GCCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTC CCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCC CCCACCCCATCCCTCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	365	0.0027	319	c.46 others(330): Show c.4675_*4676insGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCC ATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCC CTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCC TCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGCT CCCCTCCCTCTCCCGGCCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTC CCTCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTC TCCTGGCCGCCCCCCCCCACCCCATCCCTCTCCTC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4127		chr2	TogoVar
RTP5_chr2_241864729_241878823	241877949	T T	TGCTCCCC others(312): Show TGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCT CCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCC TCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTC TCCCGGCCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCCTCCCTCTCCC GGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTC CCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCC CCCACCCCATCCCTCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0001	1	365	0.0027	319	c.46 others(330): Show c.4675_*4676insGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCC ATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCC CTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCC TCGCTCCCCTCCCTCTCCCGGCCCCCCCCACCCCTTCCCTCTCTCCTCGC TCCCCTCCCTCTCCCGGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTC CCTCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTC TCCTGGCCGCCCCCCCCCACCCCATCCCTCTCCTC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4127		chr2	TogoVar
RTP5_chr2_241864729_241878823	241877949	T T	TGCTCCCC others(312): Show TGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCT CCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCC TCCCTCTCCCGGCCCCCCCACCCCCCATCCCTCTCCTCGCTCCCCTCCCT CTCCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCCTCCCTCTCCC GGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTC CCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCC CCCACCCCATCCCTCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0019 a0024c0015t0019	a0024c0015t0019g0039 a0024c0015t0019g0039	1	365	0.0027	319	c.46 others(330): Show c.4675_*4676insGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCC ATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCC CTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCCCATCCCTCTC CTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGC TCCCCTCCCTCTCCCGGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTC CCTCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTC TCCTGGCCGCCCCCCCCCACCCCATCCCTCTCCTC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4127		chr2	TogoVar
RTP5_chr2_241864729_241878823	241877949	T T	TGCTCCCC others(312): Show TGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCT CCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCC TCCCTCTCCCGGCCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCT CTCCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCCTCCCTCTCCC GGCCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGT CCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCC CCCACCCCATCCCTCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0025 a0025	a0025c0029 a0025c0029	a0025c0029t0014 a0025c0029t0014	a0025c0029t0014g0001 a0025c0029t0014g0001	1	365	0.0027	319	c.46 others(330): Show c.4675_*4676insGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCC ATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCC CTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCCACCCCCATCCCTCTC CTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGC TCCCCTCCCTCTCCCGGCCCCCCCCACCCCATCCCTCTCCTCGCTCCCCT CCCTCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCT CTCCTGGCCGCCCCCCCCACCCCATCCCTCTCCTC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4127		chr2	TogoVar
RUNDC3B_chr7_87623398_87837296	87626548	T T	TATATATG others(312): Show TATATATGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATA TATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATA TATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCA TATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGT CATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGT GTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATAT GTGTCATATATATGTGTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	202	0.0050	319	c.-22 others(330): Show c.-2276_-2275insATATATGTGTCATATATGTGTCATATATATGTGT CATATATGTGTCATATATGTGTCATATATATGTGTCATATATATGTGTCA TATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGT CATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGT GTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATAT GTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATAT ATGTGTCATATATATGTGTCATATATATGTGTCAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1849		chr7	TogoVar
RUNX1_chr21_34782801_35054302	35041452	T T	TAAAAAGA others(312): Show TAAAAAGAAGTCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGATATCAAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	170	0.0059	319	c.58+ others(334): Show c.58+7389_58+7390insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTGA TATCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTGGACTTCTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RYR2_chr1_237037184_237838988	237133976	G G	GAAAACTT others(312): Show GAAAACTTGCACCCTTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0047 a0001c0004t0018g0047	1	100	0.0100	319	c.48+ others(336): Show c.48+91422_48+91423insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAACTTGCACCCTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237181283	A A	AGCTAAGC others(312): Show AGCTAAGCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTTGTCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01496.hp1 HG01099.hp1 HG01496.hp1	a0002 a0003 a0002 a0003	a0002c0024 a0003c0021 a0002c0024 a0003c0021	a0002c0024t0005 a0003c0021t0001 a0002c0024t0005 a0003c0021t0001	a0002c0024t0005g0013 a0003c0021t0001g0019 a0002c0024t0005g0013 a0003c0021t0001g0019	2	100	0.0200	319	c.49- others(336): Show c.49-89201_49-89200insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTTGTCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGCTAAGCACTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAGSIN1_chr7_6324411_6353967	6351466	C C	CAAAGAGA others(312): Show CAAAGAGACACATGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01168.hp2 HG01169.hp2 HG00735.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0129 a0001c0001t0017g0130 a0001c0001t0017g0131 a0001c0001t0017g0129 a0001c0001t0017g0130 a0001c0001t0017g0131	3	420	0.0071	319	c.-27 others(330): Show c.-2709_-2708insTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTCCCATGTGTCTCTTT	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding		2500		chr7	TogoVar
SAMD4A_chr14_54562128_54798312	54562154	T T	TAAGATAC others(312): Show TAAGATACACGGGCGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGT GGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01928.hp1 HG00733.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0180 a0001c0001t0006g0257 a0001c0001t0003g0180 a0001c0001t0006g0257	2	262	0.0076	319	c.-56 others(330): Show c.-5606_-5605insAAGATACACGGGCGCGGTGGCTCACGCTTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding		4973		chr14	TogoVar
SARDH_chr9_133658560_133743352	133669235	T T	TCCCTCAC others(312): Show TCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTC CCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCC TCACCCTCCCTCTCCCCCTTACCCTCCCTCTCCCCTCATCCTCCCTCACC CTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCT CCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTC CCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCC TCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0114 a0002c0005t0003g0114	1	262	0.0038	319	c.249 others(338): Show c.2495+1348_2495+1349insGAGAGGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGT GAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTA AGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTGAG GGAGGATGAGGGGAGAGGGAGGGTAAGGGGGAGAGGGAGGGTGAGGGAGA TGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGG GAAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SATL1_chrX_85087284_85248779	85135735	G G	GCTCGAGT others(312): Show GCTCGAGTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18941.hp1 NA18960.hp1 others(3): Show HG01934.hp1 NA18941.hp1 NA18960.hp1 NA18984.hp1 NA18989.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0023 others(3): Show a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0030	6	232	0.0259	319	c.-31 others(340): Show c.-312-26456_-312-26455insGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTACTCGAG	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(312): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTAGACAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTG GCACAATCATGGCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCT CCCACCCCAGCCTCCAAGGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0053 a0003c0003t0007g0053	1	414	0.0024	319	c.678 others(334): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTA CATTACAAATAATAAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCA CTCTGTCACCTAGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGC CTCCAGCTCCTGGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAMP1_chr5_78355617_78485739	78358345	T T	TAAAAAAT others(312): Show TAAAAAATAAAAAATGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCG AGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00735.hp1 others(4): Show HG00140.hp2 HG00323.hp2 HG00735.hp1 HG01074.hp1 HG01516.hp1 NA18941.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0215 a0001c0001t0001g0218 others(4): Show a0001c0001t0001g0190 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0232 a0001c0001t0001g0233	7	332	0.0211	319	c.-23 others(330): Show c.-2327_-2326insAAAAAATAAAAAATGCAGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTTCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding		2271		chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78358345	T T	TAAAAAAT others(312): Show TAAAAAATAAAAAATGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCG AGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAA AAAAAAAAAAATAAAAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00609.hp2 others(74): Show HG00408.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01884.hp1 HG01891.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02145.hp2 HG02155.hp2 HG02451.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18973.hp2 NA18977.hp2 NA18981.hp2 NA18983.hp2 NA18988.hp1 NA18991.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19057.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19087.hp2 NA20129.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0005 a0001c0001 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0026 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0003c0004t0001 a0004c0005t0020	a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0175 others(74): Show a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0005g0143 a0001c0001t0011g0216 a0001c0001t0015g0194 a0001c0001t0015g0195 a0001c0001t0019g0210 a0001c0001t0019g0214 a0001c0001t0020g0328 a0001c0001t0024g0193 a0001c0001t0026g0172 a0001c0001t0035g0251 a0001c0001t0036g0329 a0001c0001t0037g0213 a0001c0001t0041g0224 a0003c0004t0001g0228 a0003c0004t0001g0229 a0004c0005t0020g0330	77	332	0.2319	319	c.-23 others(330): Show c.-2327_-2326insAAAAAATAAAAAATGCAGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTTCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAAAAAAAATAAAAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding		2271		chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78358345	T T	TAAAAAAT others(312): Show TAAAAAATAAAAAATGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCG AGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAA AAAAATAAAAATAAAAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 NA21309.hp1 HG02922.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0240 a0001c0001t0001g0207 a0001c0001t0001g0240	2	332	0.0060	319	c.-23 others(330): Show c.-2327_-2326insAAAAAATAAAAAATGCAGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTTCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAATAAAAATAAAAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding		2271		chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430269	A A	AATACAGT others(312): Show AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATT TATAAATACAGTATTTATTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0304 a0001c0001t0003g0304	1	332	0.0030	319	c.632 others(336): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCFD1_chr14_30617319_30740850	30712058	T T	TCTGGTTT others(312): Show TCTGGTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	328	0.0031	319	c.163 others(338): Show c.1630-3851_1630-3850insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTGGTTTATAATTTT	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCGB1C1_chr11_188078_199575	195918	A A	AGGACCTG others(312): Show AGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACA TGGGGGGGACCTTGGTGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02486.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0001 a0001c0004t0002g0001	2	354	0.0057	319	c.14 others(330): Show c.1468_*1469insGGACCTGGTGAGGGGACATGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1344		chr11	TogoVar
SCN2A_chr2_165234414_165397304	165396343	T T	TCCATTAT others(312): Show TCCATTATCATCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0353 a0001c0001t0008g0353	1	358	0.0028	319	c.65 others(330): Show c.6519_*6520insCCATTATCATCTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGG CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding		4040		chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCTCTGC others(312): Show GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0205 a0001c0009t0001g0205	1	290	0.0035	319	c.166 others(336): Show c.1663-422_1663-421insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3783907	C C	CAAAAGAA others(312): Show CAAAAGAATAAAGCTGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGTGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0020 a0020	a0020c0089 a0020c0089	a0020c0089t0047 a0020c0089t0047	a0020c0089t0047g0056 a0020c0089t0047g0056	1	116	0.0086	319	c.714 others(338): Show c.714-37528_714-37527insGCCGGGCGCAGTGGCTCACGCCTATA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGTGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAATAAAGCTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3783907	C C	CAAAAGAA others(312): Show CAAAAGAATAAAGCTGGCCGGGCGCGGTGGCTCACGCCTATAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGTGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02976.hp1 HG02809.hp2 HG02976.hp1	a0001 a0001	a0001c0011 a0001c0071 a0001c0011 a0001c0071	a0001c0011t0008 a0001c0071t0057 a0001c0011t0008 a0001c0071t0057	a0001c0011t0008g0028 a0001c0071t0057g0031 a0001c0011t0008g0028 a0001c0071t0057g0031	2	116	0.0172	319	c.714 others(338): Show c.714-37528_714-37527insGCCGGGCGCGGTGGCTCACGCCTATA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGTGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAATAAAGCTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CCTATATA others(312): Show CCTATATATATATTCCCTATATATATATTCCCTATATATATATTCCATAT ATATATATTCCCTATATATATATTCCATATATATATATTCCCTATATATA TATTCCCTATATATATATTCCATATATATATATTCCATATATATATTCCA TATATATATATTCCATATATATATATTTCATATATATATATTCCATATAT ATATTCCATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATATATATATTCCATATAT ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	324	0.0031	319	c.115 others(336): Show c.115-2706_115-2705insATATATATATATATATATATATATATGG AATATATATATATATATATATATGGAATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATGGAATATATATATGG AATATATATATATGAAATATATATATATGGAATATATATATATGGAATAT ATATATGGAATATATATATATGGAATATATATATAGGGAATATATATATA GGGAATATATATATATGGAATATATATATAGGGAATATATATATATGGAA TATATATATAGGGAATATATATATAGGGAATATATATATAG	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN6_chrX_119611945_119698168	119647958	T T	TTAATTTT others(312): Show TTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02922.hp1 others(7): Show HG02615.hp2 HG02809.hp1 HG02922.hp1 HG03041.hp1 HG03471.hp1 HG03704.hp1 NA19089.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0040 a0001c0002t0017 a0001c0002t0030	a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0004g0009 others(7): Show a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0004g0009 a0001c0001t0004g0032 a0001c0001t0006g0183 a0001c0001t0040g0019 a0001c0002t0017g0169 a0001c0002t0017g0171 a0001c0002t0017g0172 a0001c0002t0030g0068	10	252	0.0397	319	c.690 others(336): Show c.690+1978_690+1979insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTA	SEPTIN6	ENSG00000125354.24	transcript	ENST00000394610.7	protein_coding	5/10			chrX	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(312): Show TAGAAAAATTAGACCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCTGGGGACAGAGCGACACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01243.hp1 HG01261.hp2 others(20): Show HG00558.hp2 HG01243.hp1 HG01261.hp2 HG01517.hp1 HG02148.hp2 HG02738.hp1 HG02809.hp2 HG03041.hp2 HG03139.hp2 HG03225.hp2 HG03579.hp1 HG04115.hp1 NA18952.hp1 NA18967.hp1 NA18980.hp1 NA18982.hp2 NA18992.hp1 NA18992.hp2 NA19060.hp2 NA19067.hp1 NA19067.hp2 NA19078.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0020 a0001c0002t0032 a0001c0002t0033	a0001c0001t0001g0136 a0001c0001t0001g0177 a0001c0001t0002g0036 others(20): Show a0001c0001t0001g0136 a0001c0001t0001g0177 a0001c0001t0002g0036 a0001c0001t0004g0303 a0001c0001t0007g0314 a0001c0001t0009g0365 a0001c0002t0002g0017 a0001c0002t0002g0241 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0264 a0001c0002t0002g0275 a0001c0002t0002g0289 a0001c0002t0002g0293 a0001c0002t0002g0298 a0001c0002t0004g0155 a0001c0002t0004g0273 a0001c0002t0004g0274 a0001c0002t0004g0279 a0001c0002t0007g0162 a0001c0002t0020g0158 a0001c0002t0032g0240 a0001c0002t0033g0262	23	400	0.0575	319	c.137 others(336): Show c.1372+944_1372+945insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTGTCGCTCTGTCCCCAGGCTGGAGTGCAGTGGCGCGATC TTGGCTCACTGCACGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTC ATTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCACGCCCAGCTATTT TTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGAATGGT CTCGATCTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTA GGATTACAGGCGTGAGCCACCGCGCCCGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SGMS1_chr10_50300600_50628956	50479033	T T	TAAAAACC others(312): Show TAAAAACCCTTCTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCATGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG06807.hp2 HG02647.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0120 a0001c0002t0004g0119 a0001c0001t0001g0120 a0001c0002t0004g0119	2	312	0.0064	319	c.-49 others(340): Show c.-497-12102_-497-12101insTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAATGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCTGGGTTCATGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCCAAAGAAGGGTTTTT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	3/10			chr10	TogoVar
SGPL1_chr10_70810948_70886184	70845656	T T	TTACCTTC others(312): Show TTACCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTT TCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGT AGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00735.hp1 others(5): Show HG00099.hp1 HG00639.hp1 HG00735.hp1 HG01167.hp2 HG01192.hp2 HG01884.hp1 HG02683.hp1 HG03139.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0004 a0004c0014 a0001c0003 a0002c0004 a0004c0014	a0001c0003t0004 a0002c0004t0004 a0002c0004t0033 others(1): Show a0001c0003t0004 a0002c0004t0004 a0002c0004t0033 a0004c0014t0004	a0001c0003t0004g0068 a0001c0003t0004g0223 a0002c0004t0004g0017 others(4): Show a0001c0003t0004g0068 a0001c0003t0004g0223 a0002c0004t0004g0017 a0002c0004t0004g0226 a0002c0004t0004g0228 a0002c0004t0033g0017 a0004c0014t0004g0225	8	402	0.0199	319	c.193 others(336): Show c.193+1027_193+1028insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTTTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCCTACCTTCTT	SGPL1	ENSG00000166224.18	transcript	ENST00000373202.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH3BP5_chr3_15249353_15337586	15252819	C C	CAAAAGAC others(312): Show CAAAAGACAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 NA19030.hp1 HG02257.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0008 a0001c0001t0006 a0001c0002t0008	a0001c0001t0006g0188 a0001c0002t0008g0104 a0001c0001t0006g0188 a0001c0002t0008g0104	2	376	0.0053	319	c.32 others(330): Show c.3266_*3267insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTGCA AGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAGTAACCTGTCTTTT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding		1533		chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15252819	C C	CAAAAGAC others(312): Show CAAAAGACAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02965.hp2 others(1): Show HG02896.hp2 HG02897.hp1 HG02965.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0023 a0001c0001t0010 a0001c0002t0023	a0001c0001t0010g0350 a0001c0001t0010g0351 a0001c0001t0010g0354 others(1): Show a0001c0001t0010g0350 a0001c0001t0010g0351 a0001c0001t0010g0354 a0001c0002t0023g0341	4	376	0.0106	319	c.32 others(330): Show c.3266_*3267insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTGCA AGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAGTAACCTGTCTTTT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding		1533		chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15252819	C C	CAAAAGAC others(312): Show CAAAAGACAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAAAT TAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0150 a0001c0002t0014g0150	1	376	0.0027	319	c.32 others(330): Show c.3266_*3267insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTGCA AGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTCTATTTT TAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAGTAACCTGTCTTTT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding		1533		chr3	TogoVar
SH3GL2_chr9_17574066_17802124	17781859	T T	TTCAGGTG others(312): Show TTCAGGTGGAATTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04184.hp1 HG04228.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0096 a0001c0001t0007g0143 a0001c0001t0007g0165 a0001c0001t0007g0096 a0001c0001t0007g0143 a0001c0001t0007g0165	3	260	0.0115	319	c.188 others(336): Show c.188-4506_188-4505insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGCGTGATCAGGTGGAATTTGTT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SHROOM1_chr5_132817141_132835647	132835058	T T	TAAGACAG others(312): Show TAAGACAGGCACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03516.hp1 HG02055.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0015 a0001c0003t0004g0028 a0001c0003t0001g0015 a0001c0003t0004g0028	2	396	0.0051	319	c.-49 others(330): Show c.-4966_-4965insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCGTGCCTGTCTT	SHROOM1	ENSG00000164403.15	transcript	ENST00000378679.8	protein_coding		4412		chr5	TogoVar
SHROOM1_chr5_132817141_132835647	132835058	T T	TAAGACAG others(312): Show TAAGACAGGCACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00639.hp1 HG00642.hp1 others(60): Show HG00423.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG02015.hp2 HG02055.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18956.hp2 NA18978.hp1 NA18982.hp2 NA18992.hp1 NA19030.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19072.hp2 NA19077.hp2 NA19082.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0011c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0031 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0020 a0001c0004t0001 a0001c0004t0004 a0001c0004t0008 a0001c0004t0027 a0011c0014t0001	a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0003g0059 others(26): Show a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0003g0059 a0001c0001t0003g0064 a0001c0001t0004g0018 a0001c0001t0005g0020 a0001c0001t0005g0063 a0001c0001t0012g0062 a0001c0001t0013g0058 a0001c0001t0031g0057 a0001c0003t0001g0005 a0001c0003t0001g0012 a0001c0003t0001g0015 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0002g0010 a0001c0003t0002g0119 a0001c0003t0003g0051 a0001c0003t0004g0028 a0001c0003t0004g0052 a0001c0003t0020g0010 a0001c0004t0001g0113 a0001c0004t0004g0115 a0001c0004t0008g0027 a0001c0004t0008g0050 a0001c0004t0008g0065 a0001c0004t0008g0066 a0001c0004t0027g0114 a0011c0014t0001g0117	63	396	0.1591	319	c.-49 others(330): Show c.-4966_-4965insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCGTGCCTGTCTT	SHROOM1	ENSG00000164403.15	transcript	ENST00000378679.8	protein_coding		4412		chr5	TogoVar
SHTN1_chr10_116876477_117010187	116933993	T T	TTGCCCAC others(312): Show TTGCCCACTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTTGCCCAGGCCGGACTGCGGACTGCAATGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0007 a0001c0001t0068g0007	1	292	0.0034	319	c.859 others(336): Show c.859-3992_859-3991insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGTGGGCA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	9/16			chr10	TogoVar
SIPA1L2_chr1_232392965_232635133	232452014	T T	TAAAAATG others(312): Show TAAAAATGTGGCATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19057.hp1 NA18993.hp2 NA19057.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0152 a0002c0007t0001g0153 a0002c0007t0001g0152 a0002c0007t0001g0153	2	292	0.0069	319	c.309 others(338): Show c.3096-6229_3096-6228insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCTGCTACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCAATGCCACATTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	10/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232452014	T T	TAAAAATG others(312): Show TAAAAATGTGGCATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01167.hp2 HG01243.hp2 others(20): Show HG00673.hp2 HG01167.hp2 HG01243.hp2 HG01496.hp2 HG01952.hp1 HG01993.hp1 HG02109.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG03041.hp1 HG04199.hp1 NA18612.hp2 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp2 NA18979.hp1 NA18979.hp2 NA18999.hp1 NA19084.hp2 NA20129.hp2	a0002 a0003 a0010 a0002 a0003 a0010	a0002c0006 a0002c0007 a0002c0008 others(5): Show a0002c0006 a0002c0007 a0002c0008 a0002c0012 a0002c0036 a0003c0013 a0003c0015 a0010c0022	a0002c0006t0001 a0002c0006t0003 a0002c0006t0019 others(12): Show a0002c0006t0001 a0002c0006t0003 a0002c0006t0019 a0002c0007t0002 a0002c0007t0003 a0002c0008t0001 a0002c0008t0004 a0002c0008t0006 a0002c0012t0001 a0002c0012t0002 a0002c0036t0001 a0003c0013t0001 a0003c0013t0002 a0003c0015t0001 a0010c0022t0002	a0002c0006t0001g0109 a0002c0006t0001g0205 a0002c0006t0001g0220 others(20): Show a0002c0006t0001g0109 a0002c0006t0001g0205 a0002c0006t0001g0220 a0002c0006t0001g0221 a0002c0006t0003g0281 a0002c0006t0019g0108 a0002c0007t0002g0028 a0002c0007t0003g0240 a0002c0007t0003g0242 a0002c0008t0001g0080 a0002c0008t0001g0184 a0002c0008t0004g0226 a0002c0008t0006g0014 a0002c0012t0001g0125 a0002c0012t0002g0015 a0002c0012t0002g0027 a0002c0036t0001g0150 a0003c0013t0001g0130 a0003c0013t0002g0057 a0003c0015t0001g0225 a0010c0022t0002g0053 a0010c0022t0002g0054 a0010c0022t0002g0055	23	292	0.0788	319	c.309 others(338): Show c.3096-6229_3096-6228insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCTGCTACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCAATGCCACATTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	10/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232452014	T T	TAAAAATG others(312): Show TAAAAATGTGGCATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG01433.hp1 others(26): Show HG00438.hp2 HG00609.hp1 HG01433.hp1 HG02004.hp2 HG02040.hp1 HG02083.hp1 HG02129.hp2 HG02300.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 NA18939.hp1 NA18945.hp1 NA18950.hp2 NA18952.hp1 NA18965.hp2 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp2 NA18984.hp1 NA18985.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp2 NA19057.hp2 NA19068.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0009 a0013 a0020 a0024	a0002c0024 a0002c0036 a0003c0004 others(9): Show a0002c0024 a0002c0036 a0003c0004 a0003c0013 a0003c0015 a0004c0019 a0004c0032 a0009c0025 a0009c0068 a0013c0064 a0020c0066 a0024c0062	a0002c0024t0001 a0002c0036t0003 a0003c0004t0001 others(12): Show a0002c0024t0001 a0002c0036t0003 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0013t0002 a0003c0015t0001 a0004c0019t0001 a0004c0019t0003 a0004c0032t0002 a0009c0025t0003 a0009c0068t0003 a0013c0064t0003 a0020c0066t0003 a0024c0062t0001	a0002c0024t0001g0145 a0002c0036t0003g0245 a0003c0004t0001g0114 others(26): Show a0002c0024t0001g0145 a0002c0036t0003g0245 a0003c0004t0001g0114 a0003c0004t0001g0131 a0003c0004t0001g0146 a0003c0004t0001g0187 a0003c0004t0001g0199 a0003c0004t0001g0201 a0003c0004t0002g0034 a0003c0004t0002g0076 a0003c0004t0003g0246 a0003c0004t0003g0254 a0003c0004t0003g0264 a0003c0004t0003g0265 a0003c0004t0003g0271 a0003c0013t0002g0058 a0003c0015t0001g0110 a0003c0015t0001g0142 a0003c0015t0001g0147 a0003c0015t0001g0222 a0004c0019t0001g0224 a0004c0019t0003g0255 a0004c0032t0002g0056 a0009c0025t0003g0250 a0009c0025t0003g0251 a0009c0068t0003g0239 a0013c0064t0003g0263 a0020c0066t0003g0237 a0024c0062t0001g0217	29	292	0.0993	319	c.309 others(338): Show c.3096-6229_3096-6228insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCAATGCCACATTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	10/22			chr1	TogoVar
SIRPB1_chr20_1556385_1625009	1565567	T T	TAAGAAAT others(312): Show TAAGAAATGTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG00735.hp1 others(75): Show HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01243.hp2 HG01361.hp1 HG01433.hp2 HG01952.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02280.hp2 HG02293.hp2 HG02572.hp2 HG02622.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18939.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18993.hp2 NA18998.hp2 NA19003.hp1 NA19010.hp1 NA19011.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19068.hp1 NA19077.hp1 NA19083.hp1 NA19087.hp1 NA20752.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0002c0020 a0006c0010	a0001c0001t0001 a0001c0001t0009 a0001c0006t0011 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0006t0011 a0002c0002t0001 a0002c0002t0003 a0002c0002t0029 a0002c0020t0001 a0006c0010t0001	a0001c0001t0001g0101 a0001c0001t0009g0011 a0001c0006t0011g0022 others(28): Show a0001c0001t0001g0101 a0001c0001t0009g0011 a0001c0006t0011g0022 a0001c0006t0011g0097 a0002c0002t0001g0001 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0029 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0081 a0002c0002t0001g0088 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0147 a0002c0002t0001g0153 a0002c0002t0003g0117 a0002c0002t0029g0124 a0002c0020t0001g0091 a0006c0010t0001g0179	78	364	0.2143	319	c.3- others(330): Show c.3-71_*3-70insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGGAAACATTTCTT	SIRPB1	ENSG00000101307.16	transcript	ENST00000381605.9	protein_coding	5/5			chr20	TogoVar
SIRPB1_chr20_1556385_1625009	1565567	T T	TAAGAAAT others(312): Show TAAGAAATGTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0089 a0001c0001t0026g0089	1	364	0.0028	319	c.3- others(330): Show c.3-71_*3-70insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGGAAACATTTCTT	SIRPB1	ENSG00000101307.16	transcript	ENST00000381605.9	protein_coding	5/5			chr20	TogoVar
SIRPB1_chr20_1556385_1625009	1565567	T T	TAAGAAAT others(312): Show TAAGAAATGTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0123 a0002c0002t0023g0123	1	364	0.0028	319	c.3- others(330): Show c.3-71_*3-70insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGGAAACATTTCTT	SIRPB1	ENSG00000101307.16	transcript	ENST00000381605.9	protein_coding	5/5			chr20	TogoVar
SKAP2_chr7_26662068_26869590	26715357	G G	GGATCTTT others(312): Show GGATCTTTTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02055.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0233 a0001c0001t0008g0231 a0001c0001t0006g0233 a0001c0001t0008g0231	2	296	0.0068	319	c.796 others(338): Show c.796+10070_796+10071insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGATC	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12			chr7	TogoVar

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