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
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(224): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTG CGCCCGCCCCAGCCTCATCGCGCCACACCCCA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19079.hp1 HG03225.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0221 a0001c0004t0003g0145 a0001c0001t0001g0221 a0001c0004t0003g0145	2	392	0.0051	231	c.329 others(248): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCA AGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234811	A A	AAGGCTGG others(224): Show AAGGCTGGTCTCCACAAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCT CATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCC CCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGG GAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCA GCCTCATCGCGCCACACCCCAGCTTGGGAGCG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0071 a0001c0019t0071	a0001c0019t0071g0273 a0001c0019t0071g0273	1	392	0.0026	231	c.329 others(248): Show c.329-7938_329-7937insCGCTCCCAAGCTGGGGTGTGGCGCGATG AGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTT GCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAG CTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGC GATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTTGTGGAGACCAG CCT	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234811	A A	AAGGCTGG others(224): Show AAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCT CATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCC CCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGG GAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCA GCCTCATCGCGCCACACCCCAGCTTGGGAGCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG03041.hp2 others(3): Show HG02055.hp2 HG02257.hp2 HG03041.hp2 HG03130.hp2 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0007 a0001c0001t0007 a0001c0005t0007	a0001c0001t0007g0028 a0001c0001t0007g0211 a0001c0001t0007g0213 others(2): Show a0001c0001t0007g0028 a0001c0001t0007g0211 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0005t0007g0212	6	392	0.0153	231	c.329 others(248): Show c.329-7938_329-7937insCGCTCCCAAGCTGGGGTGTGGCGCGATG AGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTT GCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAG CTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGC GATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAG CCT	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234826	G G	GAGGCCCC others(224): Show GAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCC CAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGC CCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCT CCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCAC ACCCCAGCTTGGGAGCAAGGCTGGTCTCCACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp1 HG02897.hp1 HG02486.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0068 a0001c0005t0010 a0001c0005t0068	a0001c0005t0010g0196 a0001c0005t0010g0197 a0001c0005t0068g0195 a0001c0005t0010g0196 a0001c0005t0010g0197 a0001c0005t0068g0195	3	392	0.0077	231	c.329 others(248): Show c.329-7953_329-7952insTGTGGAGACCAGCCTTGCTCCCAAGCTG GGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTC GTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGG GCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAA GCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGG CCT	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234847	G G	GCCCGCCC others(224): Show GCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGT CTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCC ACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCA CTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGC TGGTCTCCACGAGGCCCCCCAGCTCCACTGCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0274 a0001c0001t0023g0274	1	392	0.0026	231	c.329 others(248): Show c.329-7974_329-7973insTGCAGTGGAGCTGGGGGGCCTCGTGGAG ACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGC GCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGG GTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGT GGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGC GGG	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RIPOR3_chr20_50581108_50696542	50666193	T T	TTTTTCCT others(224): Show TTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	280	0.0036	231	c.3+2 others(246): Show c.3+24932_3+24933insGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA A	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(224): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATATAATATATAATATATTATATAATATAAT GTATAATATATTATATAATATAATGTATAATATATTATATAATATAATAT ATAATATATTATATATTATAATATATAATATATTATACAATATAATATAT AATATATTATATAATATAATATATAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	231	c.-31 others(242): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTGTATAATATATTATATATTATAATATATAATATATTATAT ATTATATTATATAATATATTATACATTATATTATATAATATATTATACAT TATATTATATAATATATTATATATTATATATTATATTATATATTATATAT TATATATTATATTATATATTATATATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF213_chr17_80255852_80403794	80355646	C C	CGACGAAG others(224): Show CGACGAAGAAGTGGGGTGACCGGGAATGGGGGCTCACAGGGGAAGAAGTG GGGTGAACAGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAA TGGGGGCTTACAGGGGGAAGAAGCGGGGTGAATGGGAATGGGAGCTTACA GGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTCACGGAGGAAGAAGCGG GGTGGATGGGAATCGGGGCTCACGGAGGAAGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03540.hp2 HG03486.hp1 HG03540.hp2	a0001 a0006 a0001 a0006	a0001c0132 a0006c0044 a0001c0132 a0006c0044	a0001c0132t0026 a0006c0044t0020 a0001c0132t0026 a0006c0044t0020	a0001c0132t0026g0006 a0006c0044t0020g0197 a0001c0132t0026g0006 a0006c0044t0020g0197	2	292	0.0069	231	c.108 others(252): Show c.10862+1071_10862+1072insACGAAGAAGTGGGGTGACCGGGAA TGGGGGCTCACAGGGGAAGAAGTGGGGTGAACAGGATTGGGGGCTTATGG AGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGGAAGAAGCGG GGTGAATGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAATGGGAAT GGGGGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGCTCACGGA GGAAGAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN1_chr14_59590983_59875776	59750565	T T	TATATATA others(224): Show TATATATATATCTATAATATATAATATATCTATAATATATAATATATCTA TAATATATAATATATCTATAATATATAATATATCTATAATATATATATTA TAGATATAATATATAATATATTATAGATATAATATATAATATATTATATA TAATATATTATATATTATATCTATAATATATAATATATTATATCTATAAT ATATTATATGTAATATATATGTTATATCTATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20300.hp1 HG03139.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0132 a0001c0001t0001g0137	2	172	0.0116	231	c.242 others(248): Show c.242-4085_242-4084insTATAGATATAACATATATATTACATATA ATATATTATAGATATAATATATTATATATTATAGATATAATATATAATAT ATTATATATAATATATTATATATTATATCTATAATATATTATATATTATA TCTATAATATATATATTATAGATATATTATATATTATAGATATATTATAT ATTATAGATATATTATATATTATAGATATATTATATATTATAGATATATA TAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750565	T T	TATATATA others(224): Show TATATATATATCTATAATATATAATATATCTATAATATATAATATATCTA TAATATATAATATATCTATAATATATAATATATCTATAATATATATATTA TAGATATAATATATAATATATTATATATATAATATATAATATATTATATA TAATATATTATATATTATATCTATAATATATAATATATTATATCTATAAT ATATTATATGTAATATATATGTTATATCTATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG03579.hp1 HG02615.hp2 HG02895.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0130 a0001c0001t0001g0160 a0001c0001t0001g0078 a0001c0001t0001g0130 a0001c0001t0001g0160	3	172	0.0174	231	c.242 others(248): Show c.242-4085_242-4084insTATAGATATAACATATATATTACATATA ATATATTATAGATATAATATATTATATATTATAGATATAATATATAATAT ATTATATATAATATATTATATATTATATATATAATATATTATATATTATA TCTATAATATATATATTATAGATATATTATATATTATAGATATATTATAT ATTATAGATATATTATATATTATAGATATATTATATATTATAGATATATA TAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750565	T T	TATATATA others(224): Show TATATATATATCTATAATATATAATATATCTATAATATATAATATATCTA TAATATATAATATATCTATAATATATAATATATCTATAATATATATATTA TAGATATAATATATAATATATTATATATATAATATATAATATATTATATA TAATATATTATATATTATATCTATAATATATTATATATTATATCTATAAT ATATTATATGTAATATATATGTTATATCTATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	172	0.0058	231	c.242 others(248): Show c.242-4085_242-4084insTATAGATATAACATATATATTACATATA ATATATTATAGATATAATATATAATATATTATAGATATAATATATAATAT ATTATATATAATATATTATATATTATATATATAATATATTATATATTATA TCTATAATATATATATTATAGATATATTATATATTATAGATATATTATAT ATTATAGATATATTATATATTATAGATATATTATATATTATAGATATATA TAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTP5_chr2_241864729_241878823	241878107	G G	GCCCCCCC others(224): Show GCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTCC CCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCC CACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCCCCCCACCCCT TCCCTCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCCACCCCCATCC CTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0007 a0006c0006t0007	a0006c0006t0007g0009 a0006c0006t0007g0009	1	365	0.0027	231	c.48 others(242): Show c.4833_*4834insCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCC CTCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCT CCTGGCCGCCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCT GGCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCCTCCCTCTCCCGGCCC CCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4285		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878128	C C	CCTCGCTC others(224): Show CCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTC GCTCCCCTCCCTCTCCTGGCCGCCCCCCCCACCCCATCCCTCTCCTCGCT CCCCTCCCTCTCCTGGCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCCT CCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCT CCTGGCCGCCCCCCCCCCACCCCATCCCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0022 a0005c0005t0022	a0005c0005t0022g0005 a0005c0005t0022g0005	1	365	0.0027	231	c.48 others(242): Show c.4854_*4855insCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACC CCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCCACCCC ATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCCCCCCACCCCTTCCCTC TCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCT CGCTCCCCTCCCTCTCCTGGCCGCCCCCCCCCCACCCCATCCCTCTT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4306		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878128	C C	CCTCGCTC others(224): Show CCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTC GCTCCCCTCCCTCTCCTGGCCGCCCCCCCCCACCCCATCCCTCTCCTCGC TCCCCTCCCTCTCCTGGCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCC TCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTC TCCTGGCCGCCCCCCCCCACCCCATCCCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0005 a0005c0005t0005g0005	1	365	0.0027	231	c.48 others(242): Show c.4854_*4855insCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACC CCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCCCACCC CATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCCCCCCACCCCTTCCCT CTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCC TCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCCCACCCCATCCCTCTT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4306		chr2	TogoVar
RUNDC3B_chr7_87623398_87837296	87626768	A A	ATATGTGT others(224): Show ATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTG TCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATG TGTCATATATATGTGTCATATATATGTGTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	202	0.0050	231	c.-20 others(242): Show c.-2056_-2055insTATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTG TCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATG TGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATA TGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1629		chr7	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(224): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCTTCCCTCT CCCTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCCCCTCCCTCCTT CCCCCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTT CCCCCTCCCTCCTCCCTTCCCCCTCCTCCCTTCCCCCTCCCTCCTTCCTT CCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02965.hp2 HG02717.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0063 a0001c0001t0025 a0001c0001t0063	a0001c0001t0025g0159 a0001c0001t0063g0120 a0001c0001t0025g0159 a0001c0001t0063g0120	2	232	0.0086	231	c.77 others(242): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT TCCCCCTCCCTCCTTCCCCCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCC CCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCTCCCTTCCC CCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
SARDH_chr9_133658560_133743352	133668961	T T	TCTCTCTC others(224): Show TCTCTCTCCTTCCCTCTCCCCCACCCTCCCTCTCCCTCTCCCTCATTCTC CCTCACCCTCCCTCTCCCTCACCCTCATTCTCCCTCAGCCTCCCTCTCCC TCTCCCTTCACCCTCCCTCTCCCTCTCCCTTCACCCTCCCTCTCCCTTAC CCTCCCTCTCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCAC CCTCACCCTCCCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	262	0.0038	231	c.249 others(250): Show c.2495+1622_2495+1623insGAGAGGGAGGGTGAGGGAGAGGGAGG GTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGAGA GGGAGGGTAAGGGAGAGGGAGGGTGAAGGGAGAGGGAGAGGGAGGGTGAA GGGAGAGGGAGAGGGAGGCTGAGGGAGAATGAGGGTGAGGGAGAGGGAGG GTGAGGGAGAATGAGGGAGAGGGAGAGGGAGGGTGGGGGAGAGGGAAGGA GAGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SGPP2_chr2_222419543_222567621	222428006	A A	ATTGATTT others(224): Show ATTGATTTGAGAATTTTTTTAGTTTGATATTATTTATTTGAAATTCAGGG AAAGTCTTTGGAATGTATCCTGATCCACAGAGGTGTCCAGTGCGTACAGG ATTTGTTTAAAGTTGGTATATTTGTGAAGGTATTAATTATTTGATATAAT ATTAGAATTTATAGTATAATTTTGAGGGAATTTGTATAGTTTTATTTTTG ATATATTTATATTTTTTTATATTATATATTAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	272	0.0037	231	c.219 others(248): Show c.219+3189_219+3190insTTTGAGAATTTTTTTAGTTTGATATTAT TTATTTGAAATTCAGGGAAAGTCTTTGGAATGTATCCTGATCCACAGAGG TGTCCAGTGCGTACAGGATTTGTTTAAAGTTGGTATATTTGTGAAGGTAT TAATTATTTGATATAATATTAGAATTTATAGTATAATTTTGAGGGAATTT GTATAGTTTTATTTTTGATATATTTATATTTTTTTATATTATATATTATT TGA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHISA5_chr3_48462876_48509174	48486239	C C	CATATATT others(224): Show CATATATTATATACTATATATATATTATATATATTATATATTATATACTA TATATATTATATATACTATAGTATATATATATTATATATTATTATACATT ATATAACATATTATATATTATATAATATATAATATATAATACATTATCAT TATATATTATATAACATAATGTATTATATATTATAATTTATAATATATAA TACATTATATGTTATATAACATATAATGTATT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	290	0.0035	231	c.234 others(248): Show c.234-6983_234-6982insAATACATTATATGTTATATAACATATAA TGTATTATATATTATAAATTATAATATATAATACATTATGTTATATAATA TATAATGATAATGTATTATATATTATATATTATATAATATATAATATGTT ATATAATGTATAATAATATATAATATATATATACTATAGTATATATAATA TATATAGTATATAATATATAATATATATAATATATATATAGTATATAATA TAT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48486239	C C	CATATATT others(224): Show CATATATTATATACTATATATATATTATATATATTATATATTATATACTA TATATATTATATATACTATAGTATATATTATATAATATATATAATATAGT ATATATTATATAATATATACTATATTATATATAGTATATAATACATTATA TGTTATATAACATATAATGTATTATATATTATATAACATATAATATATAA TACATTATATGTTATATAACATATAATGTATT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	290	0.0035	231	c.234 others(248): Show c.234-6983_234-6982insAATACATTATATGTTATATAACATATAA TGTATTATATATTATATGTTATATAATATATAATACATTATATGTTATAT AACATATAATGTATTATATACTATATATAATATAGTATATATTATATAAT ATATACTATATTATATATATTATATAATATATACTATAGTATATATAATA TATATAGTATATAATATATAATATATATAATATATATATAGTATATAATA TAT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48486239	C C	CATATATT others(224): Show CATATATTATATACTATATATATATTATATATATTATATATTATATACTA TATATATTATATATACTATAGTATATATTATATAATATATATAATATAGT ATATATTATATAATATATACTATATTATATATAGTATATAATACATTATA TGTTATATAACATATAATGTATTATATATTATATGTTATATAATATATAA TACATTATATGTTATATAACATATAATGTATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(170): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18969.hp1 NA18970.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19076.hp2 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(160): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0008g0160 a0001c0001t0009g0157 a0001c0001t0011g0133	173	290	0.5966	231	c.234 others(248): Show c.234-6983_234-6982insAATACATTATATGTTATATAACATATAA TGTATTATATATTATATAACATATAATATATAATACATTATATGTTATAT AACATATAATGTATTATATACTATATATAATATAGTATATATTATATAAT ATATACTATATTATATATATTATATAATATATACTATAGTATATATAATA TATATAGTATATAATATATAATATATATAATATATATATAGTATATAATA TAT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48486239	C C	CATATATT others(224): Show CATATATTATATACTATATATATATTATATATATTATATATTATATACTA TATATATTATATATACTATAGTATATATTATATACTATATATAATATAGT ATATATTATATAATATATACTATATTATATATAGTATATAATACATTATA TGTTATATAACATATAATGTATTATATATTATATGTTATATAATATATAA TACATTATATGTTATATAACATATAATGTATT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19079.hp1 NA18948.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0165 a0001c0001t0010g0171 a0001c0001t0001g0165 a0001c0001t0010g0171	2	290	0.0069	231	c.234 others(248): Show c.234-6983_234-6982insAATACATTATATGTTATATAACATATAA TGTATTATATATTATATAACATATAATATATAATACATTATATGTTATAT AACATATAATGTATTATATACTATATATAATATAGTATATATTATATAAT ATATACTATATTATATATAGTATATAATATATACTATAGTATATATAATA TATATAGTATATAATATATAATATATATAATATATATATAGTATATAATA TAT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SLC13A3_chr20_46552828_46656459	46656268	G G	GTACAGTA others(224): Show GTACAGTATATATTATACTGTATATGATATACTATACAGTATATATTATA CTGTATATGATATACTATACAGTATATATTATACTGTATATGATATACTA TACAGTATATATTATACTGTATATGATATACTATACAGTATATATTATAC TGTATATGATATACTATACAGTATATATTATACTGTATATGATATACTAT ACAGTATATATTATACTGTATATGATATACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 NA19066.hp2 NA20805.hp1 HG00099.hp2 NA19066.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0005 a0001c0003t0008 a0001c0001t0003 a0001c0002t0005 a0001c0003t0008	a0001c0001t0003g0181 a0001c0002t0005g0142 a0001c0003t0008g0160 a0001c0001t0003g0181 a0001c0002t0005g0142 a0001c0003t0008g0160	3	390	0.0077	231	c.-48 others(242): Show c.-4848_-4847insTAGTATATCATATACAGTATAATATATACTGTAT AGTATATCATATACAGTATAATATATACTGTATAGTATATCATATACAGT ATAATATATACTGTATAGTATATCATATACAGTATAATATATACTGTATA GTATATCATATACAGTATAATATATACTGTATAGTATATCATATACAGTA TAATATATACTGTATAGTATATCATATACAGTATAATATATACTGTA	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding		4810		chr20	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(224): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATTATATATATATTA TATATATTATGTATAATATATATTATATATATTATATATATTATGTATAA TATATATTATATATATTATATATTATGTATAATATATATTTTATATATTA TATATATTATGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02615.hp1 NA18942.hp2 others(1): Show HG01081.hp1 HG02615.hp1 NA18942.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0019 a0001c0001t0095 others(1): Show a0001c0001t0014 a0001c0001t0019 a0001c0001t0095 a0001c0001t0112	a0001c0001t0014g0276 a0001c0001t0019g0187 a0001c0001t0095g0176 others(1): Show a0001c0001t0014g0276 a0001c0001t0019g0187 a0001c0001t0095g0176 a0001c0001t0112g0179	4	310	0.0129	231	c.784 others(246): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATAATATATATAATATA TATTATACATAATATATATAATATATATAATATATATTATACATAATATA TATAATATATATATAATATATAATATATATTATACATAATATATATAATA TATATATAATATATAATATATATTATACATAATATATATAATATATATAT A	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(224): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATTATATATATATTA TATATATTATGTATAATATATATTATATATATTATATATATTATGTATAA TATATATTATATATATTATATATTATGTATAATATATATTTTATATATTA TATATATTATGTATAATATATTTTATATATTA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0188 a0001c0001t0115g0188	1	310	0.0032	231	c.784 others(246): Show c.784+877_784+878insTAATATATAAAATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATAATATATATAATATA TATTATACATAATATATATAATATATATAATATATATTATACATAATATA TATAATATATATATAATATATAATATATATTATACATAATATATATAATA TATATATAATATATAATATATATTATACATAATATATATAATATATATAT A	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMOC1_chr14_69874416_70037366	69924771	G G	GGTAGGGG others(224): Show GGTAGGGGAGCTAGGGGAGGTAGAGGAGGAGGAGAGGTAGGGGAGGTAGG GGAGCTAGGGGAGGCAGGGGAGCTAGGGGAGCTAGGGGAGGTAGGAGAGG TAGGGGAGGAGGAGAGGTAGGGGAAGTAGGGGAGGTAAGGGAGGTAGGGG AGGTAGGGGAGCTAGGGGAGGCAGGGGAGCTAGGGGAGCTAGGGGAGGTA GGAGAGGTAGGGGAGGAGGAGAGGTAGGGGAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	270	0.0037	231	c.100 others(250): Show c.100-27358_100-27357insCTAGGGGAGGTAGAGGAGGAGGAGAG GTAGGGGAGGTAGGGGAGCTAGGGGAGGCAGGGGAGCTAGGGGAGCTAGG GGAGGTAGGAGAGGTAGGGGAGGAGGAGAGGTAGGGGAAGTAGGGGAGGT AAGGGAGGTAGGGGAGGTAGGGGAGCTAGGGGAGGCAGGGGAGCTAGGGG AGCTAGGGGAGGTAGGAGAGGTAGGGGAGGAGGAGAGGTAGGGGAAGTAG GGGAG	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SNTG2_chr2_945849_1372613	1111962	C C	CAGTCCTT others(224): Show CAGTCCTTTGAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCCTTATAC TCCTTTGAGGAGGATCGTGTGTACTGAGGTTTAACCCTTAGAGTCCTTTG AGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTACAGTCCTTTGAGA AGAATCGTGTGTACTAAGTGAGGTTTAACCCTTATACTCCTTTGAGGAGG ATCGTGTGTACTAAGTGAGGTTTAACCCTTAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0049 a0006c0009t0001g0049	1	190	0.0053	231	c.325 others(250): Show c.325+13563_325+13564insAAGAATCGTGTGTACTAAGTGAGGTT TAACCCTTATACTCCTTTGAGGAGGATCGTGTGTACTGAGGTTTAACCCT TAGAGTCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTAC AGTCCTTTGAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCCTTATACT CCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTAGAGTCCT TTGAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1168080	A A	ACCTACAG others(224): Show ACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCAC AGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAA CCTACAGGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACA GACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAGC CTACAGGCCGCCCACAGACGGCAGAACTGAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0045 a0011c0018t0001g0045	1	190	0.0053	231	c.499 others(248): Show c.499+2470_499+2471insAACTGAAGCCTAGAAGCCGCCCACAGAC GGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAACCTA CAGGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACG GCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAGCCTAC AGGCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGG CAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1168186	A A	AGCCGCCC others(224): Show AGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGC AGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAG GCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCA GAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAGG CCGCCCACAGACGGCAGAACTGAAGCCTACAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0017 a0017	a0017c0031 a0017c0031	a0017c0031t0001 a0017c0031t0001	a0017c0031t0001g0110 a0017c0031t0001g0110	1	190	0.0053	231	c.499 others(248): Show c.499+2553_499+2554insCGCCCACAGACGGCAGAACTGAAACCTA CAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACG GCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAC AGGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGG CAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACA GGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE18_chr7_77045391_77067558	77060996	T T	TAAGAGTG others(224): Show TAAGAGTGAGATTATCATGTACAAGAGTGAGATTATCATGTACAAGAGTG AGATTATCATGTACAAGAGTGAGATTATCATGTACAAGAGTGAGATTATC ATGTACAAGAGTGAGATTATCATGTACAAGAGTGAGATTATCATGTACAA GAGTGAGATTATCATGTACAAGAGTGAGATTATCATGTACAAGAGTGAGA TTATCATGTACAAGAGTGAGATTATCATGTAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0107 a0001c0001t0009g0107	1	416	0.0024	231	c.-42 others(246): Show c.-421-64_-421-63insGTACATGATAATCTCACTCTTGTACATGAT AATCTCACTCTTGTACATGATAATCTCACTCTTGTACATGATAATCTCAC TCTTGTACATGATAATCTCACTCTTGTACATGATAATCTCACTCTTGTAC ATGATAATCTCACTCTTGTACATGATAATCTCACTCTTGTACATGATAAT CTCACTCTTGTACATGATAATCTCACTCTTGTACATGATAATCTCACTCT T	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding	1/8			chr7	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(224): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	231	c.54 others(242): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(224): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	231	c.54 others(242): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(224): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	231	c.54 others(242): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(224): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	231	c.54 others(242): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(224): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	231	c.54 others(242): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCK1_chr5_136970298_137504326	137160616	T T	TATATTAT others(224): Show TATATTATATATAATATATAATATATTATATATAATATATAATATATTAT ATATAATATATTATATATTATATATAATATATTATATATTATATATAATA TATAATATATTATATATAATATATAATATATTATATATAATATATTATAT ATAATATATAATATATTATATATTATATATTATATATAATATATAATATA TTATATATAATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18962.hp1 HG03831.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0064 a0001c0001t0002g0112 a0001c0001t0001g0064 a0001c0001t0002g0112	2	152	0.0132	231	c.233 others(250): Show c.233-19923_233-19922insTATATAAAATATATATTATATATTAT ATATAATATATTATATATTATATATAATATATAATATATAATATATTATA TATTATATATAATATATTATATATAATATATTATATATTATATATAATAT ATTATATATTATATATAATATATAATATATTATATATAATATATAATATA TTATATATAATATATTATATATTATATATAATATATTATATATTATATAT AATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137160616	T T	TATATTAT others(224): Show TATATTATATATAATATATAATATATTATATATAATATATAATATATTAT ATATAATATATTATATATTATATATAATATATTATATATTATATATAATA TATAATATATTATATATAATATATAATATATTATATATAATATATTATAT ATAATATATTATATATTATATATTATATATTATATATAATATATAATATA TTATATATAATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	152	0.0066	231	c.233 others(250): Show c.233-19923_233-19922insTATATAAAATATATATTATATATTAT ATATAATATATTATATATTATATATAATATATAATATATAATATATAATA TATTATATATAATATATTATATATAATATATTATATATTATATATAATAT ATTATATATTATATATAATATATAATATATTATATATAATATATAATATA TTATATATAATATATTATATATTATATATAATATATTATATATTATATAT AATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SRMS_chr20_63533489_63552749	63535841	C C	CCTCACCT others(224): Show CCTCACCTGGCCTCCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTC ACCTGGCCTCCCGCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCT GGCCTCCCGCCCCCTCCTCTCCTGGCCTCCCGCCCCCCCCCTCACCTGGC CTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCC CGCCCCCCCCCTCACCTGGCCTCCCGCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0069 a0005c0007t0002g0069	1	356	0.0028	231	c.49 others(242): Show c.4976_*4977insAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGG AGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGC CAGGTGAGGGGGGGGGCGGGAGGCCAGGAGAGGAGGGGGCGGGAGGCCAG GTGAGGAGGGGGCGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCAGGTGA GGGGGGTGCGGGAGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTGAG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2647		chr20	TogoVar
SSTR5_chr16_1067747_1086454	1076085	T T	TCTCCTCC others(224): Show TCTCCTCCCCGCCTCCCCATCCCTCTCCCTCTCCCTCCTCTCTCTCTCCC CCTACCCTGTTTTCTCTCTCCCTCCCCGCCTCCCCCTCCCTCTCCCCCAT ACCCTATCTTTCTCTCTCCCTCCCTGCCACCCCCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCCCTCTCTCCCCCCACCCTGTCTTTCTCTCT CCCTCCCCACCTCCCCCTCTCTCTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0121 a0001c0001t0012g0121	1	350	0.0029	231	c.-27 others(248): Show c.-27-2748_-27-2747insGCCTCCCCATCCCTCTCCCTCTCCCTCC TCTCTCTCTCCCCCTACCCTGTTTTCTCTCTCCCTCCCCGCCTCCCCCTC CCTCTCCCCCATACCCTATCTTTCTCTCTCCCTCCCTGCCACCCCCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCTCCCCCCACCCT GTCTTTCTCTCTCCCTCCCCACCTCCCCCTCTCTCTCCCTCCCCCTCCTC CCC	SSTR5	ENSG00000162009.10	transcript	ENST00000689027.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
STK33_chr11_8386870_8599228	8571893	T T	TTTTTAAA others(224): Show TTTTTAAAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAA TTAAAATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAA TTTTAAAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAAT TAAAATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAAT TTTAAAAAATTTAAATTAAAATTAAATTTTAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp1 HG00642.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0121 a0001c0001t0002g0090 a0001c0001t0002g0121	2	334	0.0060	231	c.-46 others(252): Show c.-466+22189_-466+22190insTTAAAATTTAATTTTAATTTAAAT TTTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAAAATT TAATTTTAATTTAAATTTTTTAAAATTAAAATTTAATTTTAATTTAAATT TTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAAAATTT AATTTTAATTTAAATTTTTTAAAATTAAAATTTAATTTTAATTTAAATTT TTTAAAA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8571897	A A	AAAAAAAT others(224): Show AAAAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAATTAA AATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAATTTT AAAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAATTAAA ATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAATTTTA AAAAATTTAAATTAAAATTAAATTTTAATTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00544.hp2 others(52): Show HG00140.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG01071.hp1 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG02027.hp1 HG02056.hp1 HG02083.hp2 HG02132.hp1 HG02293.hp2 HG02647.hp1 HG02698.hp2 HG02735.hp1 HG02896.hp1 HG03017.hp2 HG03831.hp1 HG03834.hp1 HG06807.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18952.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18978.hp2 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18998.hp2 NA18999.hp1 NA19004.hp1 NA19007.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19070.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19086.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 others(5): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0002t0016 a0002c0004t0003	a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0014 others(52): Show a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0012g0016 a0001c0001t0012g0017 a0001c0001t0012g0049 a0001c0001t0014g0100 a0001c0001t0018g0107 a0001c0001t0020g0077 a0001c0001t0026g0331 a0001c0002t0016g0332 a0002c0004t0003g0004 a0002c0004t0003g0066 a0002c0004t0003g0070 a0002c0004t0003g0096	55	334	0.1647	231	c.-46 others(252): Show c.-466+22185_-466+22186insAAAATTAAAATTTAATTTTAATTT AAATTTTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAA AATTTAATTTTAATTTAAATTTTTTAAAATTAAAATTTAATTTTAATTTA AATTTTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAAA ATTTAATTTTAATTTAAATTTTTTAAAATTAAAATTTAATTTTAATTTAA ATTTTTT	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8572029	T T	TAAAAAAT others(224): Show TAAAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAATTAA AATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAATTTT AAAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAATTAAA ATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAATTTTA AAAAATTTAAATTAAAATTAAATTTTAATTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0220 a0001c0009t0001g0220	1	334	0.0030	231	c.-46 others(252): Show c.-466+22053_-466+22054insTAAATTAAAATTTAATTTTAATTT AAATTTTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAA AATTTAATTTTAATTTAAATTTTTTAAAATTAAAATTTAATTTTAATTTA AATTTTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAAA ATTTAATTTTAATTTAAATTTTTTAAAATTAAAATTTAATTTTAATTTAA ATTTTTT	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STON1_chr2_48525154_48603513	48564581	C C	CCTTCTCC others(224): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	376	0.0027	231	c.-47 others(250): Show c.-47-16004_-47-16003insTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
SUCLG2_chr3_67369719_67659612	67444525	C C	CCCCGCCC others(224): Show CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTGTCA GCCCCCCTGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTG CCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCC CCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0260 a0002c0002t0003g0260	1	280	0.0036	231	c.106 others(252): Show c.1063-43675_1063-43674insCGGGCTGACCCCCCCACCTCCCTC CCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CAGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGC AGGGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGG	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SYK_chr9_90796819_90903549	90884833	G G	GTATGCAC others(224): Show GTATGCACATATACACATATGTGTGTATGCACATATACACATATGTGTGT ATGCACATATACACATATGTGTGTATGCACATATACACACATATGTGTGT ATGCACATATATACATATATACACATATGTGTACATATGTGTATATATAC ATATATATACACATATATATGTATATATACACATATGTGAATATGTATAT ATGTGTTATATATACACATATGTGTATATGTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03540.hp1 HG02258.hp2 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0010 a0001c0005t0003 a0001c0005t0010	a0001c0005t0003g0223 a0001c0005t0010g0220 a0001c0005t0003g0223 a0001c0005t0010g0220	2	376	0.0053	231	c.158 others(250): Show c.1582-2913_1582-2912insGCACATATACACATATGTGTGTATGC ACATATACACATATGTGTGTATGCACATATACACATATGTGTGTATGCAC ATATACACACATATGTGTGTATGCACATATATACATATATACACATATGT GTACATATGTGTATATATACATATATATACACATATATATGTATATATAC ACATATGTGAATATGTATATATGTGTTATATATACACATATGTGTATATG TATAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN3_chr22_32502820_33063381	32931818	C C	CCAGATGC others(224): Show CCAGATGCTGTTTGATGGGACATTTTCTCTAGATTTTCTCACCTTCATGC TCTACAGTAGTATGGCATCATGACTCTGCAGATGCTGTTTGATGGGACAT TTTCTCTAGATTTTCTCACCTTCATGCTCTACAGTAGTATGGCATCATGA CTCTGCAGATGCTGTTTGATGGGACATTTTCTCTAGATTTTCTCACCTTC ATGCTCTACAGTAGTATGGCATCATGACTCTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp2 HG01070.hp2 others(21): Show HG00140.hp2 HG00621.hp2 HG01070.hp2 HG01192.hp1 HG01433.hp1 HG02040.hp2 HG02074.hp1 HG02257.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02965.hp2 HG02970.hp1 HG03239.hp2 HG03669.hp2 HG04228.hp1 NA18980.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(12): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0045 a0001c0003t0043 a0001c0003t0049 a0002c0002t0004 a0002c0002t0055	a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0032 others(21): Show a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0086 a0001c0001t0001g0114 a0001c0001t0001g0179 a0001c0001t0007g0082 a0001c0001t0008g0075 a0001c0001t0012g0115 a0001c0001t0012g0131 a0001c0001t0013g0139 a0001c0001t0016g0062 a0001c0001t0021g0064 a0001c0001t0024g0065 a0001c0001t0027g0184 a0001c0001t0028g0124 a0001c0001t0045g0068 a0001c0003t0043g0161 a0001c0003t0049g0120 a0002c0002t0004g0059 a0002c0002t0004g0152 a0002c0002t0004g0159 a0002c0002t0004g0163 a0002c0002t0055g0063	24	184	0.1304	231	c.370 others(246): Show c.370-568_370-338dupCAGAGTCATGATGCCATACTACTGTAGAGC ATGAAGGTGAGAAAATCTAGAGAAAATGTCCCATCAAACAGCATCTGCAG AGTCATGATGCCATACTACTGTAGAGCATGAAGGTGAGAAAATCTAGAGA AAATGTCCCATCAAACAGCATCTGCAGAGTCATGATGCCATACTACTGTA GAGCATGAAGGTGAGAAAATCTAGAGAAAATGTCCCATCAAACAGCATCT G	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	3/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32931875	T T	TAGTATGG others(224): Show TAGTATGGCATCATGACTCTGCAGATGCTGTTTGATGGGACATTTTCTCT AGATTTTCTCACCTTCATGCTCTACAGTAGTATGGCATCACGACTCTGCA GATGCTGTTTGATGGGACATTTTCTCTAGATTTTCTCACCTTCATGCTCT ACAGCAGTATGGCATCATGACTCTGCAGATGCTGTTTGATGGGACATTTT CTCTAGATTTTCTCACCTTCATGCTCTACAGC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02040.hp1 NA18995.hp1 HG01358.hp1 HG02040.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0058 a0001c0001t0066 a0001c0001t0028 a0001c0001t0058 a0001c0001t0066	a0001c0001t0028g0054 a0001c0001t0058g0180 a0001c0001t0066g0052 a0001c0001t0028g0054 a0001c0001t0058g0180 a0001c0001t0066g0052	3	184	0.0163	231	c.370 others(246): Show c.370-395_370-394insGCTGTAGAGCATGAAGGTGAGAAAATCTAG AGAAAATGTCCCATCAAACAGCATCTGCAGAGTCATGATGCCATACTGCT GTAGAGCATGAAGGTGAGAAAATCTAGAGAAAATGTCCCATCAAACAGCA TCTGCAGAGTCGTGATGCCATACTACTGTAGAGCATGAAGGTGAGAAAAT CTAGAGAAAATGTCCCATCAAACAGCATCTGCAGAGTCATGATGCCATAC T	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	3/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32931875	T T	TAGTATGG others(224): Show TAGTATGGCATCATGACTCTGCAGATGCTGTTTGATGGGACATTTTCTCT AGATTTTCTCACCTTCATGCTCTACAGTAGTATGGCATCATGACTCTGCA GATGCTGTTTGATGGGACATTTTCTCTAGATTTTCTCACCTTCATGCTCT ACAGCAGTATGGCATCATGACTCTGCAGATGCTGTTTGATGGGACATTTT CTCTAGATTTTCTCACCTTCATGCTCTACAGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00673.hp1 others(54): Show HG00140.hp1 HG00323.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01978.hp1 HG02056.hp1 HG02071.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02572.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02976.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18969.hp1 NA18984.hp2 NA18995.hp2 NA19063.hp1 NA19065.hp2 NA19088.hp1 NA19240.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0040 a0001c0001t0059 a0001c0001t0062 a0001c0001t0064 a0001c0001t0067 a0001c0001t0068 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0004t0017 a0001c0005t0029 a0001c0006t0007 a0001c0007t0080 a0002c0002t0004 a0002c0002t0005 a0002c0002t0022	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0048 others(54): Show a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0113 a0001c0001t0002g0014 a0001c0001t0002g0045 a0001c0001t0002g0057 a0001c0001t0002g0072 a0001c0001t0002g0123 a0001c0001t0002g0174 a0001c0001t0003g0016 a0001c0001t0003g0070 a0001c0001t0003g0125 a0001c0001t0003g0128 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0151 a0001c0001t0003g0176 a0001c0001t0005g0158 a0001c0001t0006g0012 a0001c0001t0006g0073 a0001c0001t0006g0138 a0001c0001t0006g0177 a0001c0001t0009g0019 a0001c0001t0010g0183 a0001c0001t0011g0109 a0001c0001t0012g0053 a0001c0001t0013g0081 a0001c0001t0013g0121 a0001c0001t0013g0135 a0001c0001t0015g0043 a0001c0001t0015g0058 a0001c0001t0025g0044 a0001c0001t0026g0171 a0001c0001t0029g0127 a0001c0001t0030g0015 a0001c0001t0030g0028 a0001c0001t0032g0150 a0001c0001t0040g0153 a0001c0001t0059g0078 a0001c0001t0062g0181 a0001c0001t0064g0080 a0001c0001t0067g0050 a0001c0001t0068g0122 a0001c0001t0074g0071 a0001c0001t0075g0178 a0001c0001t0076g0069 a0001c0001t0077g0013 a0001c0004t0017g0055 a0001c0005t0029g0116 a0001c0006t0007g0074 a0001c0007t0080g0112 a0002c0002t0004g0111 a0002c0002t0005g0130 a0002c0002t0022g0001	57	184	0.3098	231	c.370 others(246): Show c.370-395_370-394insGCTGTAGAGCATGAAGGTGAGAAAATCTAG AGAAAATGTCCCATCAAACAGCATCTGCAGAGTCATGATGCCATACTGCT GTAGAGCATGAAGGTGAGAAAATCTAGAGAAAATGTCCCATCAAACAGCA TCTGCAGAGTCATGATGCCATACTACTGTAGAGCATGAAGGTGAGAAAAT CTAGAGAAAATGTCCCATCAAACAGCATCTGCAGAGTCATGATGCCATAC T	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	3/13			chr22	TogoVar
TBCD_chr17_82747065_82950914	82926043	C C	CTCCTCCC others(224): Show CTCCTCCCCGGGTGTCCTTCCTGGGTTGTACCGGGGGCCGTGGAGAGGCT GGAGGTGACTCCTCCCCGGGTGTCCTTCCTGGGTTGTACTGGGGGCCGTG GAGAGGCTGGAGGTGACTCCTCCCCGGGTGTCCTTCCTGGGTTGTACCGG GGGCCGTGGAGAGGCTGGAGGTGACTCCTCCCCGGGTGTCCTTCCTGGGT TGTACCGGGGGCCGTGGAGAGGCTGGAGGTGA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0084 a0001c0002t0010g0084	1	318	0.0031	231	c.238 others(248): Show c.2380-357_2380-356insTCCTCCCCGGGTGTCCTTCCTGGGTTGT ACCGGGGGCCGTGGAGAGGCTGGAGGTGACTCCTCCCCGGGTGTCCTTCC TGGGTTGTACTGGGGGCCGTGGAGAGGCTGGAGGTGACTCCTCCCCGGGT GTCCTTCCTGGGTTGTACCGGGGGCCGTGGAGAGGCTGGAGGTGACTCCT CCCCGGGTGTCCTTCCTGGGTTGTACCGGGGGCCGTGGAGAGGCTGGAGG TGA	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	27/38			chr17	TogoVar
TCF25_chr16_89868592_89916379	89907770	C C	CCCTCCTC others(224): Show CCCTCCTCCCAGCTCCCAGCTCCCACCTCCCTCCTCCCTCCTCCCAGCTC CCGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCTCCTCC CTCCTTCCAGTTCCCACCTCCCAGCTCCCACCTCCCACCTCCCAGCACCC ACCTCTCTCCTCCCTCCTCCCAGCTCCTGGCTCCCACCTCCCAGTTTCCA CCTCCCAGCTCCAACCTCCCTCCTCCCTCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	300	0.0033	231	c.179 others(248): Show c.1799+450_1799+451insTCCTCCCAGCTCCCAGCTCCCACCTCCC TCCTCCCTCCTCCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACCTCCCA GCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCACCTCCCAGCTCCCAC CTCCCACCTCCCAGCACCCACCTCTCTCCTCCCTCCTCCCAGCTCCTGGC TCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCTCCTCCCTCCT TCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar

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