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
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(217): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATAATATATAATATATAATATATAATATAATATAATATATAAT ATATTATATAATATAATGTATAATATATTATATAATATAATGTATAATAT ATTATATAATATAATATATAATATATTATATAATATAATATATAATATAT TATATAATATAATATATAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	224	c.-31 others(235): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATATATTATATTATATAATATATTATAC ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATTATATTATATATTATATATTATATATTATATTATATATTATATAT TATATTATATATTATATATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTAGATAG others(217): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	426	0.0024	224	c.22 others(235): Show c.2236_*2237insTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882049	G G	GATATATA others(217): Show GATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TGTAGATACATCTATATGTAGATACATCTATATGTAGATACATCTATATG TAGATACATCTATATGTAGATACATCTATATGTAGATACATCTATATATA GATACATCTATATGTAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0003 a0003c0007t0001g0003	1	426	0.0024	224	c.23 others(235): Show c.2323_*2324insATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATGTAGATACATCTATATGTAGATACATCTATATGT AGATACATCTATATGTAGATACATCTATATGTAGATACATCTATATGTAG ATACATCTATATATAGATACATCTATATGTAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2129		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882086	C C	CTAGATAG others(217): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	426	0.0024	224	c.23 others(235): Show c.2360_*2361insTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2166		chr13	TogoVar
RPA3_chr7_7631518_7723607	7678645	T T	TATATTTA others(217): Show TATATTTATATACTTAATTTATAGATAAATATATATTTATATACTTAATT TATAGATAAATATATATTTATATACTTAATTTATAGATAAATATATATTT ATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATAT ATTTATGTATTTAGTTTATAAATATATATTTATGTATTTAGTTTATAAAT ATATATTTATGTATTTAGTTTATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	308	0.0033	224	c.-75 others(243): Show c.-758+7184_-758+7185insTTATAAACTAAATACATAAATATATA TTTATAAACTAAATACATAAATATATATTTATAAACTAAATACATAAATA TATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATA AATATATATTTATCTATAAATTAAGTATATAAATATATATTTATCTATAA ATTAAGTATATAAATATATATTTATCTATAAATTAAGTATATAAATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	234154	T T	TGAGCAGG others(217): Show TGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCG GCTACTTACCCTGACCAACTTTCCCCCAAGCGGGGAGCGGCTACTTACCC TGACCAACTTCCCCGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCC TGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAGCAGGGAGCG GCTACTTACCCTGACCAACTTCCCC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0023 a0001c0001t0014g0023	1	133	0.0075	224	c.613 others(243): Show c.613+12956_613+12957insGGGGAAGTTGGTCAGGGTAAGTAGCC GCTCCCTGCTCGGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCAG GGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCGGGGAAGTTGGTCAG GGTAAGTAGCCGCTCCCCGCTTGGGGGAAAGTTGGTCAGGGTAAGTAGCC GCTCCCTGCTCAGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243194	T T	TTACCTTC others(217): Show TTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCTATT GACTACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTA TTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTC TATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCT CTATTGACTACCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0016 a0002c0011t0001g0016	1	133	0.0075	224	c.613 others(241): Show c.613+3916_613+3917insGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAG GAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAAT AGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	272967	T T	TGAGACCC others(217): Show TGAGACCCCAGCGAGGGCGACATCAGGAAGAGACCCCAGCGAGGGCGACG TCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGA GTGACTTCAGGGTGAGACCCCGGCGAGGGTGACTTCAGGGTGAGACCCCA GCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAG ACCCCAGCAAGGGTGATGTCAGGGA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	133	0.0075	224	c.438 others(241): Show c.438+8800_438+8801insTCCCTGACATCACCCTTGCTGGGGTCTC TCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGG GGTCTCACCCTGAAGTCACCCTCGCCGGGGTCTCACCCTGAAGTCACTCT CGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGT CGCCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273050	G G	GAGAGACC others(217): Show GAGAGACCCCAGCAAGGGCTACGTCAGGGTGAGACCCCAGCGAGGGCGAC ATCAGGAAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAG AGTGACTTCAGGGTGAGACCCCGGCGAGGGTGACTTCAGGGAGAGACCCC AGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGCTACGTCAGGGTGA GACCCCAGCGAGGGCGACATCAGGA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	133	0.0075	224	c.438 others(241): Show c.438+8717_438+8718insTCCTGATGTCGCCCTCGCTGGGGTCTCA CCCTGACGTAGCCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGG GTCTCTCCCTGAAGTCACCCTCGCCGGGGTCTCACCCTGAAGTCACTCTC GCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTTCCTGATGTC GCCCTCGCTGGGGTCTCACCCTGACGTAGCCCTTGCTGGGGTCTCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273275	A A	AGAGACCC others(217): Show AGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACT TCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGG GTGACGTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCA GCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAG ACCCCAGCGCGGGTGACTTCAGGGT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	133	0.0075	224	c.438 others(241): Show c.438+8492_438+8493insACCCTGAAGTCACCCGCGCTGGGGTCTC TCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGG GGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCT CGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGT CACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273376	T T	TGACTTCA others(217): Show TGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAG CGAGGGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGTGAGA CCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGACTTCAGG GTGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCGAC TTCAGGGTGAGACCCCAGCGAGGGC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	133	0.0075	224	c.438 others(241): Show c.438+8391_438+8392insGCCCTCGCTGGGGTCTCACCCTGAAGTC GCCCTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCACCCT GAAGTCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCT CACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTG GGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273499	A A	AGAGACCC others(217): Show AGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACT TCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGG GTGACGTCAGGGAGAGACGCCAGCAAGGGTGATGTCAGGGAGAGACCCCA GCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAG ACCCCAGCGCGGGTGACTTCAGGGT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	133	0.0075	224	c.438 others(241): Show c.438+8268_438+8269insACCCTGAAGTCACCCGCGCTGGGGTCTC TCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGG GGTCTCTCCCTGACATCACCCTTGCTGGCGTCTCTCCCTGACGTCACCCT CGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGAAGT CACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273611	A A	AGAGACCC others(217): Show AGAGACCCCAGCAAGGGTGACTTCAGGGTGAGACCCCAGCGCGGGTGACT TCAGGGTGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAGG GCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCA GCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAG ACCCCAGCAAGGGTGACTTCAGGGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	133	0.0075	224	c.438 others(241): Show c.438+8156_438+8157insACCCTGAAGTCACCCTTGCTGGGGTCTC TCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACATCACCCTTGCTGG GGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCACCCTGAAGT CACCCGCGCTGGGGTCTCACCCTGAAGTCACCCTTGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	309595	G G	GCCCCCTG others(217): Show GCCCCCTGCTGGGGGTCCGGGATATGGCATGTCCCCCGCCCTGCCCAGGG CTCCTGCCAGCCCCCCTGCTGGGGGTCCGGGATATGGCACGTCCCCCGTC CAGGGCTCCTGCCAGCCCCCTGCTGGGGGTCTGGGATACGGCATGTCCCC CGTCCAGGGCTCCTGCCAGCCCCCCTGCTGGGGGTCCGGGATACGGCATG TCCCCCGTCCAGGGCTCCTGCCAGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	133	0.0075	224	c.351 others(241): Show c.351+9824_351+9825insGCTGGCAGGAGCCCTGGACGGGGGACAT GCCGTATCCCGGACCCCCAGCAGGGGGGCTGGCAGGAGCCCTGGACGGGG GACATGCCGTATCCCAGACCCCCAGCAGGGGGCTGGCAGGAGCCCTGGAC GGGGGACGTGCCATATCCCGGACCCCCAGCAGGGGGGCTGGCAGGAGCCC TGGGCAGGGCGGGGGACATGCCATATCCCGGACCCCCAGCAGGGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CCCTTTCC others(217): Show CCCTTTCCTTTCCTTTCCTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTC CTTTCCTTTCCTTTCCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTCCTTTCCTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0094 a0001c0094	a0001c0094t0057 a0001c0094t0057	a0001c0094t0057g0136 a0001c0094t0057g0136	1	196	0.0051	224	c.348 others(243): Show c.348+21542_348+21543insTTTCCTTTCCTTTCCTTTCCTTTCCT TCCTTTCCTTTCCTTTCCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(217): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATATG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	276	0.0036	224	c.494 others(243): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATATGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(217): Show ACATATATACACATATACGTATATATACATATATGTATATATACATATAC GTATATATACATATATGTATATATACATATACGTATATATACATATATGT ATATATACATATACGTATATATACATATATGTATATATACATATACGTAT ATATACATATATGTATATATACATATACGTATATATACATATATGTATAT ATACATATACGTATATATACATATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0157 a0001c0001t0052g0157	1	190	0.0053	224	c.731 others(243): Show c.731+49076_731+49077insCATATGTATATATACGTATATGTATA TATACATATATGTATATATACGTATATGTATATATACATATATGTATATA TACGTATATGTATATATACATATATGTATATATACGTATATGTATATATA CATATATGTATATATACGTATATGTATATATACATATATGTATATATACG TATATGTATATATACATATATGTATATATACGTATATGTGTATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
SAMD11_chr1_918923_949574	934097	A A	AGGCGGCT others(217): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0282 a0001c0019t0006g0282	1	434	0.0023	224	c.843 others(241): Show c.843-1668_843-1667insGCGTTACAGGTGGGCGGGGGGGGCGGCT CCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934265	A A	AGGCGGCT others(217): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	434	0.0023	224	c.843 others(241): Show c.843-1485_843-1484insGGGGGGGGCGGCTCCGTTACAGGTGGGC GGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAG GTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCG GCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934293	A A	AGGCGGCT others(217): Show AGGCGGCTCCGTTACAGGTGTGCGGGGGGGGCGGCTCCGTTACAGGTGGG CGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACA GGTGTGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTCCGTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0303 a0004c0008t0006g0303	1	434	0.0023	224	c.843 others(241): Show c.843-1472_843-1471insCCGTTACAGGTGTGCGGGGGGGGCGGCT CCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAG GCGGCTCCGTTACAGGTGTGCGGGGGGGGCGGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934777	G G	GCGTTACA others(217): Show GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0317 a0004c0008t0002g0317	1	434	0.0023	224	c.843 others(239): Show c.843-981_843-980insGGGGGGGGCGGCTGCGTTACAGGTGGGCGG GGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934937	G G	GGGCGGCT others(217): Show GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0322 a0001c0002t0009g0322	1	434	0.0023	224	c.843 others(239): Show c.843-810_843-809insGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668520	T T	TCACCCTC others(217): Show TCACCCTCCCACTCCCCTCACCCTCCCTCTCCCCACGCCCTCCCTCACCC CTCACCCTCATCCCCCTCCTCCCTCACCCTCCCTCACCCCTCACCCACCC TCCCCTCACCCACCCTCCCTCTCCCCCTCATCCTCCCTCTCCCTCAACCC TCCCTCTCCCCTTACCCCTCCCCCACCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCCCCTCGCCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0003 a0002c0018t0003	a0002c0018t0003g0104 a0002c0018t0003g0104	1	262	0.0038	224	c.249 others(243): Show c.2496-1651_2496-1650insGAGAGGGAGGGCGAGGGGAGAGGGAG GGTGAGGGAGAGGGAGGGTGAGGGTGGGGGAGGGGTAAGGGGAGAGGGAG GGTTGAGGGAGAGGGAGGATGAGGGGGAGAGGGAGGGTGGGTGAGGGGAG GGTGGGTGAGGGGTGAGGGAGGGTGAGGGAGGAGGGGGATGAGGGTGAGG GGTGAGGGAGGGCGTGGGGAGAGGGAGGGTGAGGGGAGTGGGAGGGTG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBF2_chr11_9773668_10299219	10249692	T T	TTTGGAAT others(217): Show TTTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTC CATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGG GGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGC TATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTG GAATGCTATGGGGGAGTCCATAGCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp1 HG02055.hp1 others(3): Show HG00639.hp2 HG01884.hp1 HG02055.hp1 HG02922.hp2 HG02970.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0007 a0001c0003t0005 a0001c0005t0001 a0001c0001t0007 a0001c0003t0005 a0001c0005t0001	a0001c0001t0007g0188 a0001c0001t0007g0208 a0001c0001t0007g0212 others(3): Show a0001c0001t0007g0188 a0001c0001t0007g0208 a0001c0001t0007g0212 a0001c0003t0005g0162 a0001c0005t0001g0209 a0001c0005t0001g0210	6	224	0.0268	224	c.55+ others(241): Show c.55+44322_55+44323insTGCTATGGACTCCCCCATAGCATTCCAA TGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCA TTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCC ATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGAC TCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCCAA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SCAMP1_chr5_78355617_78485739	78430269	A A	AATACAGT others(217): Show AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTTATAAATACAGTATTTATTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18977.hp1 NA18986.hp1 others(3): Show HG04204.hp1 NA18977.hp1 NA18986.hp1 NA18988.hp2 NA18998.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0267 a0001c0001t0003g0308 a0001c0001t0003g0311 others(3): Show a0001c0001t0003g0267 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0003g0314 a0001c0001t0003g0316 a0001c0001t0003g0318	6	332	0.0181	224	c.632 others(241): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(217): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGT AAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAA ACAGTGCAGTATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	386	0.0026	224	c.21+ others(239): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACTGCACTG TTTATACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACTGCACTGTT TATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCLY_chr2_238056001_238104413	238098595	C C	CCGCCCAC others(217): Show CCGCCCACATAGAACCGCCCACATAGGACCGCCCACATGGGAACGCCCAC ATAGAACCGCCCACATAGGACCGCCCACATGGGAACGCCCACATGGGAAC GCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGAACGCCCACAT AGAACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGT CCACATGGGACCGCCCACATGGGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0163 a0001c0004t0163	a0001c0004t0163g0267 a0001c0004t0163g0267	1	392	0.0026	224	c.25 others(233): Show c.251_*252insAACCGCCCACATAGGACCGCCCACATGGGAACGCCC ACATAGAACCGCCCACATAGGACCGCCCACATGGGAACGCCCACATGGGA ACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGAACGCCCAC ATAGAACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATAGAACC GTCCACATGGGACCGCCCACATGGGAACGCCCACATAG	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	252	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCML4_chr6_107697154_107829313	107783107	T T	TGATGGGA others(217): Show TGATGGGAGGTGCTGGTCTGAGTTAGCCAGATGGCAGGTGCTGGTCTGAG TTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGG TCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGCAGG TGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGAT GGGAGGTGCTGGTCTGAGTTAGCCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03453.hp2 HG03516.hp2 HG02630.hp2 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0021 a0001c0002t0010 a0001c0001t0001 a0001c0001t0021 a0001c0002t0010	a0001c0001t0001g0076 a0001c0001t0021g0013 a0001c0002t0010g0134 a0001c0001t0001g0076 a0001c0001t0021g0013 a0001c0002t0010g0134	3	250	0.0120	224	c.-59 others(243): Show c.-59-10722_-59-10721insTGGCTAACTCAGACCAGCACCTCCCA TCAGGCAAACTCAGACCAGCACCTGCCATCAGGCAAACTCAGACCAGCAC CTGCCATCAGGCAAACTCAGACCAGCACCTGCCATCAGGCAAACTCAGAC CAGCACCTGCCATCAGGCAAACTCAGACCAGCACCTGCCATCAGGCAAAC TCAGACCAGCACCTGCCATCTGGCTAACTCAGACCAGCACCTCCCATC	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1289187	C C	CCGTGTCT others(217): Show CCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	290	0.0035	224	c.166 others(243): Show c.1663-1083_1663-1082insGTGTCTCTGCTCCGTCCCGTGTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289337	C C	CCGTGTCT others(217): Show CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0032 a0002c0003t0002g0032	1	290	0.0035	224	c.166 others(241): Show c.1663-933_1663-932insGTGTCTCTGCTCCATTCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDC2_chr8_96488813_96616790	96573337	C C	CACAACAG others(217): Show CACAACAGCCAGTTGTTCAACATGAATTGAGAAAACCGTCCTCTATCAAA GGTCATCTTCTTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCTTCCCTC CCACCAGCATGTTCTGCCTCCTCATTCTTCCAACTCCTCGCATCTCAGAC ACAAGTTGCTGTCTGAGCCCACATGTATGTACTTGCTGTATGACGGTTGA CAGTGAAGGAGTCTGTTCCTCAGCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	334	0.0030	224	c.61- others(241): Show c.61-20142_61-20141insCAACAGCCAGTTGTTCAACATGAATTGA GAAAACCGTCCTCTATCAAAGGTCATCTTCTTTCCTTCCCTCCTTCCCTC CCTCCTTCCTTCCTTCCCTCCCACCAGCATGTTCTGCCTCCTCATTCTTC CAACTCCTCGCATCTCAGACACAAGTTGCTGTCTGAGCCCACATGTATGT ACTTGCTGTATGACGGTTGACAGTGAAGGAGTCTGTTCCTCAGCGA	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96573337	C C	CACAACAG others(217): Show CACAACAGCCAGTTGTTCAACATGAATTGAGAAAACGGTCCTCTATCAAA GGTCATCTTCTTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCTTCCCTC CCACCAGCATGTTCTGCCTCCTCATTCTTCCAACTCCTCGCATCTCAGAC ACAAGTTGCTGTCTGAGCCCACATGTATGTACTTGCTGTATGACGGTTGA CAGTGAAGGACTCTGTTCCTCAGCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(267): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0003c0004 a0003c0006 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0015 a0001c0003t0018 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0005t0001 a0002c0005t0002 a0002c0005t0003 a0002c0005t0004 a0002c0005t0005 a0002c0005t0006 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0017 a0003c0006t0003 a0003c0006t0004 a0004c0007t0005	a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0028 others(266): Show a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0205 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0119 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0222 a0001c0001t0002g0234 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0003g0182 a0001c0001t0003g0220 a0001c0001t0003g0226 a0001c0001t0003g0319 a0001c0001t0003g0323 a0001c0001t0004g0024 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0005g0324 a0001c0001t0005g0329 a0001c0001t0006g0088 a0001c0001t0006g0096 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0007g0117 a0001c0001t0007g0129 a0001c0001t0007g0133 a0001c0001t0009g0030 a0001c0001t0010g0142 a0001c0001t0011g0258 a0001c0001t0013g0049 a0001c0001t0014g0057 a0001c0001t0016g0158 a0001c0001t0019g0274 a0001c0003t0001g0011 a0001c0003t0001g0016 a0001c0003t0001g0034 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0001g0050 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0059 a0001c0003t0001g0239 a0001c0003t0001g0243 a0001c0003t0001g0247 a0001c0003t0001g0255 a0001c0003t0001g0262 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0269 a0001c0003t0001g0279 a0001c0003t0001g0287 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0297 a0001c0003t0002g0090 a0001c0003t0002g0092 a0001c0003t0002g0095 a0001c0003t0002g0103 a0001c0003t0002g0107 a0001c0003t0002g0115 a0001c0003t0002g0304 a0001c0003t0002g0312 a0001c0003t0003g0166 a0001c0003t0003g0173 a0001c0003t0003g0177 a0001c0003t0003g0186 a0001c0003t0003g0187 a0001c0003t0003g0199 a0001c0003t0003g0201 a0001c0003t0003g0203 a0001c0003t0003g0207 a0001c0003t0003g0213 a0001c0003t0003g0326 a0001c0003t0003g0327 a0001c0003t0005g0224 a0001c0003t0015g0254 a0001c0003t0018g0193 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0025 a0002c0002t0001g0035 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0071 a0002c0002t0001g0138 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0152 a0002c0002t0001g0160 a0002c0002t0001g0248 a0002c0002t0001g0252 a0002c0002t0001g0273 a0002c0002t0001g0282 a0002c0002t0001g0285 a0002c0002t0001g0288 a0002c0002t0002g0072 a0002c0002t0002g0078 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0118 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0123 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0132 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0236 a0002c0002t0003g0168 a0002c0002t0003g0174 a0002c0002t0003g0183 a0002c0002t0003g0197 a0002c0002t0003g0200 a0002c0002t0003g0202 a0002c0002t0003g0221 a0002c0002t0003g0228 a0002c0002t0003g0231 a0002c0002t0004g0014 a0002c0002t0005g0167 a0002c0002t0005g0169 a0002c0002t0005g0170 a0002c0002t0005g0190 a0002c0002t0006g0089 a0002c0002t0006g0094 a0002c0002t0006g0114 a0002c0002t0006g0116 a0002c0002t0006g0136 a0002c0002t0008g0332 a0002c0002t0008g0333 a0002c0005t0001g0003 a0002c0005t0001g0009 a0002c0005t0001g0010 a0002c0005t0001g0017 a0002c0005t0001g0022 a0002c0005t0001g0209 a0002c0005t0002g0087 a0002c0005t0002g0105 a0002c0005t0003g0163 a0002c0005t0003g0198 a0002c0005t0003g0320 a0002c0005t0004g0048 a0002c0005t0004g0250 a0002c0005t0004g0281 a0002c0005t0005g0164 a0002c0005t0005g0204 a0002c0005t0005g0215 a0002c0005t0005g0227 a0002c0005t0006g0085 a0003c0004t0001g0007 a0003c0004t0001g0012 a0003c0004t0001g0023 a0003c0004t0001g0061 a0003c0004t0001g0066 a0003c0004t0001g0067 a0003c0004t0001g0068 a0003c0004t0001g0069 a0003c0004t0001g0178 a0003c0004t0001g0181 a0003c0004t0001g0249 a0003c0004t0001g0251 a0003c0004t0001g0253 a0003c0004t0001g0256 a0003c0004t0001g0259 a0003c0004t0001g0268 a0003c0004t0001g0271 a0003c0004t0001g0276 a0003c0004t0001g0280 a0003c0004t0001g0306 a0003c0004t0002g0112 a0003c0004t0003g0162 a0003c0004t0003g0165 a0003c0004t0003g0171 a0003c0004t0003g0179 a0003c0004t0003g0180 a0003c0004t0003g0184 a0003c0004t0003g0192 a0003c0004t0003g0194 a0003c0004t0003g0196 a0003c0004t0003g0211 a0003c0004t0003g0218 a0003c0004t0003g0229 a0003c0004t0003g0230 a0003c0004t0003g0325 a0003c0004t0003g0328 a0003c0004t0017g0313 a0003c0006t0003g0188 a0003c0006t0003g0212 a0003c0006t0004g0305 a0004c0007t0005g0216	270	334	0.8084	224	c.61- others(241): Show c.61-20142_61-20141insCAACAGCCAGTTGTTCAACATGAATTGA GAAAACGGTCCTCTATCAAAGGTCATCTTCTTTCCTTCCCTCCTTCCCTC CCTCCTTCCTTCCTTCCCTCCCACCAGCATGTTCTGCCTCCTCATTCTTC CAACTCCTCGCATCTCAGACACAAGTTGCTGTCTGAGCCCACATGTATGT ACTTGCTGTATGACGGTTGACAGTGAAGGACTCTGTTCCTCAGCGA	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96573337	C C	CACAACAG others(217): Show CACAACAGCCAGTTGTTCAACATGAATTGAGAAAACGGTCCTCTATCAAA GGTCATCTTCTTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCTTCCCTC CCACCAGCATGTTCTGCCTCCTCATTCTTCCAACTCCTCGCATCTCAGAC ACAAGTTGCTGTCTGAGCCCACGTGTATGTACTTGCTGTATGACGGTTGA CAGTGAAGGACTCTGTTCCTCAGCG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	334	0.0030	224	c.61- others(241): Show c.61-20142_61-20141insCAACAGCCAGTTGTTCAACATGAATTGA GAAAACGGTCCTCTATCAAAGGTCATCTTCTTTCCTTCCCTCCTTCCCTC CCTCCTTCCTTCCTTCCCTCCCACCAGCATGTTCTGCCTCCTCATTCTTC CAACTCCTCGCATCTCAGACACAAGTTGCTGTCTGAGCCCACGTGTATGT ACTTGCTGTATGACGGTTGACAGTGAAGGACTCTGTTCCTCAGCGA	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDHA_chr5_213320_262082	261041	G G	GAGCATTA others(217): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCCACAGAGCATTACTGTGTGAGCTCCGCCTCCCGTCACAGC ATTACTGTGTGAGCTCCGCCTCCCGTCAGAGCATTACTGTGTGAGCTCCG CCTCCCGTCAGATCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18990.hp1 NA18612.hp2 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0002 a0001c0002t0001g0014	2	266	0.0075	224	c.46 others(235): Show c.4621_*4622insAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAG CATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACTGTGTGAGCTCC GCCTCCCGTCACAGCATTACTGTGTGAGCTCCGCCTCCCGTCAGAGCATT ACTGTGTGAGCTCCGCCTCCCGTCAGATCATTACCGTGTGAGCTCCGCCT CCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3960		chr5	TogoVar
SDHA_chr5_213320_262082	261326	G G	GCAGAGCA others(217): Show GCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTG AGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAG AGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCT CCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCA TTACCGTGTGAGCTCCGCCTCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	266	0.0038	224	c.49 others(235): Show c.4906_*4907insCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCA GAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGC TCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCG CCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4245		chr5	TogoVar
SEL1L2_chr20_13844247_13995614	13934375	T T	TATATATA others(217): Show TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATTCCAT ATATATATATATTCCATATATATATTCCATATATATATATATTCCATATA TATATTCCATATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02886.hp2 others(2): Show HG02257.hp2 HG02622.hp2 HG02886.hp2 HG02965.hp2 HG03209.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0005 a0005c0007t0001 a0001c0001t0001 a0001c0001t0005 a0005c0007t0001	a0001c0001t0001g0305 a0001c0001t0005g0304 a0005c0007t0001g0301 others(2): Show a0001c0001t0001g0305 a0001c0001t0005g0304 a0005c0007t0001g0301 a0005c0007t0001g0302 a0005c0007t0001g0303	5	324	0.0154	224	c.115 others(241): Show c.115-2605_115-2604insGGAATATATATATATATGGAATATATAT ATGGAATATATATATATATGGAATATATATATGGAATATATATATATATG GAATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(217): Show TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATTCCATATATATA TATATTCCATATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	324	0.0031	224	c.115 others(241): Show c.115-2620_115-2619insGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA3A_chr7_83950777_84199789	84086471	G G	GTATTATT others(217): Show GTATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATATATTATTAT ATTATATTTACATATAATATATTATTATATTATATTTACATATAATATAT TATTATATTATATTTACATATAATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02735.hp2 others(4): Show HG01168.hp2 HG01169.hp2 HG02735.hp2 HG03654.hp1 HG04184.hp2 NA18522.hp1 NA18964.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0004 a0001c0005t0011 a0001c0005t0001 a0001c0005t0004 a0001c0005t0011	a0001c0005t0001g0002 a0001c0005t0001g0159 a0001c0005t0004g0027 others(4): Show a0001c0005t0001g0002 a0001c0005t0001g0159 a0001c0005t0004g0027 a0001c0005t0004g0028 a0001c0005t0004g0188 a0001c0005t0004g0194 a0001c0005t0011g0177	7	276	0.0254	224	c.453 others(243): Show c.453+23998_453+23999insTATTATATGTAAATATAATATAATAA TATATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATATATTATATGTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086499	A A	ATATTATT others(217): Show ATATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATATATTATTAT ATTATATTTACATATAATATATTATTATATTATATTTACATATAATGTAT TATTATATTATATTTACATATAATG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18957.hp2 NA18980.hp1 others(3): Show NA18942.hp2 NA18957.hp2 NA18980.hp1 NA18993.hp2 NA19054.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0029 a0001c0002t0002g0038 a0001c0002t0002g0109 others(3): Show a0001c0001t0003g0029 a0001c0002t0002g0038 a0001c0002t0002g0109 a0001c0002t0002g0171 a0001c0002t0002g0193 a0001c0002t0002g0210	6	276	0.0217	224	c.453 others(243): Show c.453+23970_453+23971insCATTATATGTAAATATAATATAATAA TACATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATATATTATATGTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086527	A A	ATATTATT others(217): Show ATATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATATATTATTAT ATTATATTTACATATAATATATTATTATATTATATTTACATATAATGTAT TATTATATTATATTTACATATAATG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18984.hp2 NA19086.hp2 NA18964.hp2 NA18984.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0002 a0001c0013t0002 a0001c0002t0002 a0001c0013t0002	a0001c0002t0002g0138 a0001c0002t0002g0178 a0001c0013t0002g0031 a0001c0002t0002g0138 a0001c0002t0002g0178 a0001c0013t0002g0031	3	276	0.0109	224	c.453 others(243): Show c.453+23942_453+23943insCATTATATGTAAATATAATATAATAA TACATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATATATTATATGTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086527	A A	ATATTATT others(217): Show ATATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATATATTATTAT ATTATATTTACATATAATGTATTATTATATTATATTTACATATAATGTAT TATTATATTATATTTACATATAATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0068 a0001c0003t0008g0068	1	276	0.0036	224	c.453 others(243): Show c.453+23942_453+23943insCATTATATGTAAATATAATATAATAA TACATTATATGTAAATATAATATAATAATACATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATATATTATATGTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086527	A A	ATATTATT others(217): Show ATATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATGTATTATTAT ATTATATTTACATATAATGTATTATTATATTATATTTACATATAATGTAT TATTATATTATATTTACATATAATG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0047	1	276	0.0036	224	c.453 others(243): Show c.453+23942_453+23943insCATTATATGTAAATATAATATAATAA TACATTATATGTAAATATAATATAATAATACATTATATGTAAATATAATA TAATAATACATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATATATTATATGTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086555	A A	ATATTATT others(217): Show ATATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATGTATTATTATATTATATTTACATATAATGTATTATTAT ATTATATTTACATATAATGTATTATTATATTATATTTACATATAATGTAT TATTATATTATATTTACATATAATG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	276	0.0036	224	c.453 others(243): Show c.453+23914_453+23915insCATTATATGTAAATATAATATAATAA TACATTATATGTAAATATAATATAATAATACATTATATGTAAATATAATA TAATAATACATTATATGTAAATATAATATAATAATACATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATATATTATATGTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(217): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGAGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18983.hp1 HG01978.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0008g0060 a0001c0001t0008g0061	2	370	0.0054	224	c.-30 others(243): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCTCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(217): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(36): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01109.hp1 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01952.hp2 HG02004.hp2 HG02015.hp1 HG02074.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02572.hp2 HG02647.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03834.hp1 NA18612.hp1 NA18951.hp2 NA18960.hp2 NA18991.hp1 NA18993.hp1 NA19004.hp1 NA19081.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0005 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0046 a0001c0003t0001 a0001c0003t0009 a0001c0004t0004 a0001c0004t0026 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0003c0005t0013 a0003c0005t0040 a0006c0011t0004	a0001c0001t0001g0039 a0001c0001t0001g0071 a0001c0001t0001g0077 others(36): Show a0001c0001t0001g0039 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0176 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0002g0297 a0001c0001t0003g0130 a0001c0001t0003g0207 a0001c0001t0006g0009 a0001c0001t0010g0170 a0001c0001t0012g0322 a0001c0001t0012g0344 a0001c0001t0014g0289 a0001c0001t0014g0294 a0001c0001t0046g0300 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0009g0285 a0001c0004t0004g0046 a0001c0004t0026g0338 a0002c0002t0001g0187 a0002c0002t0002g0288 a0002c0002t0002g0309 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0347 a0002c0002t0002g0353 a0002c0002t0002g0367 a0002c0002t0009g0310 a0002c0002t0009g0321 a0003c0005t0013g0205 a0003c0005t0040g0217 a0006c0011t0004g0150	39	370	0.1054	224	c.-30 others(243): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(217): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGCGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	370	0.0027	224	c.-30 others(243): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCGCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(217): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGCGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0326 a0002c0002t0002g0326	1	370	0.0027	224	c.-30 others(243): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCGCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(217): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGATCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0351 a0002c0002t0002g0351	1	370	0.0027	224	c.-30 others(243): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGATCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SERAC1_chr6_158104519_158173262	158169745	T T	TTATATAA others(217): Show TTATATAATATATTGTATATTATATATTATATAATATATTGTATATTATA TATTATATATTGTATATTATACATTATATAATATATTGTATATTATATAT TATATAATATATTGTATATTATATATTATATAATATATTGTATATTATAT ATTATATAATATATTGTATATTATATATTATATAATATATTGTATATTAT ATATTATATAATATATTGTATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0185 a0004c0004t0006g0185	1	366	0.0027	224	c.-16 others(235): Show c.-1608_-1607insTAATATACAATATATTATATAATATATAATATAC AATATATTATATAATATATAATATACAATATATTATATAATATATAATAT ACAATATATTATATAATATATAATATACAATATATTATATAATATATAAT ATACAATATATTATATAATGTATAATATACAATATATAATATATAATATA CAATATATTATATAATATATAATATACAATATATTATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1484		chr6	TogoVar
SERPINF2_chr17_1737871_1760265	1740423	G G	GTGAGGGT others(217): Show GTGAGGGTGGGAGGCGGCCTGATGCAGGAGTGAGGAGCAGGACAGTGAGG GTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGG GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTG ATGCAGGGAGTGAGGAGCCGGACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	445	0.0023	224	c.-24 others(235): Show c.-2490_-2489insTGAGGGTGGGAGGCGGCCTGATGCAGGAGTGAGG AGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2447		chr17	TogoVar

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