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
PRPF31_chr19_54110754_54136713	54133829	C C	CTCCCTCC others(373): Show CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCC TCTCCACCTCCCCTCTCTCCTCTTCCTCCCTCTCCACCTTCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACC TTCCCTCTCTCCACCTCCCCTCCCTCTCTCCACCTTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	73	0.0137	380	c.23 others(391): Show c.2397_*2398insTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCTCTTCCTCCCTCTCC ACCTTCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCT CTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACC TCCCCTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCCACCT TCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PSCA_chr8_142675495_142687725	142685124	G G	GGCTCAGG others(373): Show GGCTCAGGAGGCTGCTTCCAATGGTTGAGCAGATACAGTGGAGATCAGAG CCTTGGCTATATTTATGCAACCGGGCAGCTCAGGAGGCTGCTTCCAATGG TTGAGCAGATACAGTGGAGATCAGAGCCTTGGCTATATTTATGCAACCGG GCAGCTCAGGAGGCTGCTTCCAATGGTTGAGCAGATACAGTGGAGATCAG AGCCTTGGCTATATTTATGCAACCGGGCAGCTCAGGAGGCTGCTTCCAAT GGTTGAGCAGATACAGTGGAGATCAGAGCCTTGGCTATATTTATGCAACC GGGCAGCTCAGGAGGCTGCTTCCAATGGTTGAGCAGATACAGTGGAGATC AGAGCCTTGGCTATATTTATGCAACCGGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03139.hp1 HG01884.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	2	379	0.0053	380	c.29 others(391): Show c.2992_*2993insGCTCAGGAGGCTGCTTCCAATGGTTGAGCAGATA CAGTGGAGATCAGAGCCTTGGCTATATTTATGCAACCGGGCAGCTCAGGA GGCTGCTTCCAATGGTTGAGCAGATACAGTGGAGATCAGAGCCTTGGCTA TATTTATGCAACCGGGCAGCTCAGGAGGCTGCTTCCAATGGTTGAGCAGA TACAGTGGAGATCAGAGCCTTGGCTATATTTATGCAACCGGGCAGCTCAG GAGGCTGCTTCCAATGGTTGAGCAGATACAGTGGAGATCAGAGCCTTGGC TATATTTATGCAACCGGGCAGCTCAGGAGGCTGCTTCCAATGGTTGAGCA GATACAGTGGAGATCAGAGCCTTGGCTATATTTATGCAACCGGGCA	PSCA	ENSG00000167653.5	transcript	ENST00000301258.5	protein_coding		2400		chr8	TogoVar
PTPRM_chr18_7562316_8411856	7985469	G G	GTAAATAT others(373): Show GTAAATATATACATATACTGGTAGATACGTATATAAATATATACATATAC TGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAA ATATATACATATACTGGTAGATACGTAAATATATACATATACTGGTAGAT ACGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATAC ATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGT ATATAAATATATACATATACTGGTAGATACGTATATAAATATATACATAT ACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATAT AAATATATACATATACTGGTAGATACGTATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19043.hp1 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0066 a0001c0004t0001g0016 a0001c0004t0001g0066	2	23	0.0870	380	c.113 others(401): Show c.1132+30181_1132+30182insAATATATACATATACTGGTAGATA CGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA TATAAATATATACATATACTGGTAGATACGTATATAAATATATACATATA CTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATA AATATATACATATACTGGTAGATACGTATATAAATATATACATATACTGG TAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAATA TATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGA TACGTA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7985469	G G	GTATGTAA others(373): Show GTATGTAAATATATACATATACTGGTAGATACGTAAATATATACATATAC TGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAA ATATATACATATACTGGTAGATACGTATATAAATATATACATATACTGGT AGATACGTAAATATATACATATACTGGTAGATACGTATATAAATATATAC ATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGT ATATAAATATATACATATACTGGTAGATACGTATATAAATATATACATAT ACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATAT AAATATATACATATACTGGTAGATACGTATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0019 a0001c0003t0001g0019	1	22	0.0455	380	c.113 others(401): Show c.1132+30057_1132+30058insTGTAAATATATACATATACTGGTA GATACGTAAATATATACATATACTGGTAGATACGTATATAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA TATAAATATATACATATACTGGTAGATACGTAAATATATACATATACTGG TAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAATA TATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGA TACGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATA CATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACG TATATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBM33_chr7_155639661_155786480	155673695	T T	TATACATA others(373): Show TATACATACACACGTGTATATATATACACGCATATACATACACACGTGTA TATATATACACGCATATACATACACACGTGTATATATATACACGCATATA CATACACACGTGTATATATATACACGCATATACATACACACGTGTATATA TATACACGCATATACATACACACGTGTATATATATACACGCATATACATA CACACGTGTATATATATACACGCATATACATACACACGTGTATATATATA CACGCATATACATACACACGTGTATATATATACACGCATATACATACACA CGTGTATATATATACACGCATATACATACACACGTGTATATATATACACG CATATACATACACACGTGTATATATACACGC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02273.hp2 HG01928.hp2 HG02273.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0002 a0001c0003t0008g0002	2	294	0.0068	380	c.171 others(395): Show c.171+783_171+784insCATACACACGTGTATATATATACACGCATA TACATACACACGTGTATATATATACACGCATATACATACACACGTGTATA TATATACACGCATATACATACACACGTGTATATATATACACGCATATACA TACACACGTGTATATATATACACGCATATACATACACACGTGTATATATA TACACGCATATACATACACACGTGTATATATATACACGCATATACATACA CACGTGTATATATATACACGCATATACATACACACGTGTATATATATACA CGCATATACATACACACGTGTATATATATACACGCATATACATACACACG TGTATATATATACACGCATATACATACACACGTGTATATATACACGCATA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(373): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CATACGTATGTATGTGTATACATACGTATGTATGTGTATACATACATACG TATGTATGTGTATACATACGTATGTATGTGTATACATACATACGTATGTA TGTGTACACATACGTATGTATGTGTACACATACATATGTATGTATGTGTA CACATACATATGTATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18977.hp1 NA18998.hp2 NA18975.hp2 NA18977.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	3	326	0.0092	380	c.-23 others(391): Show c.-2310_-2309insGTATGTGTACACATACATACATATGTATGTGTAC ACATACATACATATGTATGTGTACACATACATACGTATGTGTACACATAC ATACGTATGTATGTATACACATACATACGTATGTATACACATACATACGT ATGTATGTATACACATACATACGTATGTATACACATACATACGTATGTAT GTATACACATACATACGTATGTATACACATACATACATACGTATGTATAC ACATACATACATACGTATGTATACACATACATACATACGTATGTATACAC ATACATACATATGTATGCATACACATACATATGTATGCATACACATACAT ATGTATGCATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(373): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATA CATACGTATGTATGTGCATACATACATATGTATGTATGTGTATACATACG TATGTATGTGTATACATACATACGTATGTATGTGTATACATACATACGTA TGTATGTGTACACATACGTATGTATGTGTACACATACATATGTATGTATG TGTACACATACATATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	324	0.0031	380	c.-23 others(391): Show c.-2310_-2309insGTATGTGTACACATACATATGTATGTGTACACAT ACATACATATGTATGTGTACACATACATACGTATGTGTACACATACATAC GTATGTATGTATACACATACATACGTATGTATGTATACACATACATACGT ATGTATACACATACATACATATGTATGTATGCACATACATACGTATGTAT ACACATACATACATACGTATGTATACACATACATACATACGTATGTATAC ACATACATACATACGTATGTATACACATACATACATACGTATGTATACAC ATACATACATACGTATGCATACACATACATATGTATGCATACACATACAT ATGTATGCATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(373): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	81	0.0123	380	c.132 others(397): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RNF17_chr13_24759169_24884921	24881830	C C	CTATATAG others(373): Show CTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATAT AGATATATAGATGCATCTATATAGATATATAATCTATATAGATATATAAT CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0187 a0011c0011t0001g0187	1	424	0.0024	380	c.21 others(391): Show c.2104_*2105insTATATAGATATATAGATGCATCTATATAGATATA TAGATGCATCTATATAGATATATAGATGCATCTATATAGATATATAATCT ATATAGATATATAATCTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGATA CATCTATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1910		chr13	TogoVar
RNF213_chr17_80255852_80403794	80355637	G G	GGGAAGAA others(373): Show GGGAAGAAGCGACGAAGAAGTGGGGTGACCGGGAATGGGGGCTCACAGGG GAAGAAGTGGGGTGAACAGGATTGGGGGCTTATGGAGGAAGAAGCGGGGT GAACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGG GGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACGGAG GAAGAAGCGGGGTGACCGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGT GAATGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGG GGCTCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGA AGCGGGGTGACCGGGATTGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0266 a0001c0004t0006g0266	1	243	0.0041	380	c.108 others(401): Show c.10862+1071_10862+1072insACGAAGAAGTGGGGTGACCGGGAA TGGGGGCTCACAGGGGAAGAAGTGGGGTGAACAGGATTGGGGGCTTATGG AGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGGAAGAAGCGG GGTGGACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAA TGGGGGCTTACGGAGGAAGAAGCGGGGTGACCGGGAATGGGAGCTTACAG GGGAAGAAGCGGGGTGAATGGGAATGGGGGCTCACGGAGGAAGAAGCGGG GTGGATGGGAATCGGGGCTCACGGAGGAAGAGGGGTGACCGGGAATGGGG GCTCACAGAGGAAGAAGCGGGGTGACCGGGATTGGGGGCTTATGGAGGAA GAAGCG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(373): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGGAGGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGG AGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGA GGAGGGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAG AGGAAGAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGA GGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGG AGAAGGAGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	2	0.5000	380	c.807 others(397): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTC CCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCT CCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCC CCCTCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCCTCCTCC TC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(373): Show GGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAGG AGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAAG GAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGA GGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGG AGAAGGAGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	2	0.5000	380	c.807 others(397): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTC CTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTCCTTCT TCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCC CCTCCCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCC TCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCC CCCTCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCC TC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(373): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03942.hp2 HG03225.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0032 a0001c0002t0004 a0001c0002t0032	a0001c0002t0004g0062 a0001c0002t0032g0022 a0001c0002t0004g0062 a0001c0002t0032g0022	2	183	0.0109	380	c.632 others(397): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430217	A A	AGTATTTA others(373): Show AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATT TATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGT ATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAA ATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0019 a0001c0002t0004g0019	1	306	0.0033	380	c.632 others(397): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACTGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(373): Show CCCCCACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCC CCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCC ACTCTCCTCATTCTATCCCCCCACAAGCATTGCTTCAACCCTCCCCCACT CTCCTCATTCTATCCCCCCACAAGCATCGCTCCAGCCCTCCCCTACTCTC CTCACTATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCAT TCTACCCCCCCAACAAGCATAGCTCCAACCCTCCCCCAACTCTCCTCATT CTACCCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTC TACCCCCCCCCACAAGCACTGCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0010 a0001c0043t0010	a0001c0043t0010g0182 a0001c0043t0010g0182	1	192	0.0052	380	c.89- others(393): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGA ATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGTTGGGGGGGTAGAA TGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGG AGAGTAGGGGAGGGCTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGA GTGGGGGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTG GGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTGGG GGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEPTIN5_chr22_19709503_19728319	19726364	A A	ACGCTGTG others(373): Show ACGCTGTGGACGCCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTCGG GGCGGTGAGGACGCTGTCGGGACGGTGAGGGCGCTGTGGACGCGGTGAGG GCGCTGTGGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGA CGCCGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGACGCGGTGAGG ACGCTGTGGACGCGGCGAGGGAGCTGTCAGGGCGGTGAGGACGCTGTGGA CGCGGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCGGGGCGGTGAGG ACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGA CGCGGTGAGGACGCTGTGGACGCGGTGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02015.hp1 HG02040.hp2 others(12): Show HG00609.hp2 HG02015.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 NA18948.hp1 NA18954.hp2 NA18957.hp1 NA18979.hp2 NA18984.hp1 NA18989.hp2 NA18999.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0006	15	378	0.0397	380	c.38 others(391): Show c.3880_*3881insCGCTGTGGACGCCGTGAGGACGCTGTCGGGGCCG TGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGACGGTGAGGGCGCT GTGGACGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTGGACGCGG TGAGGACGCTGTGGACGCCGTGAGGACGCTGTGGGGACGGTGAGGACGCT GTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCAGGGCGG TGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAGCT GTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGG TGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGTGAGGG	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		3046		chr22	TogoVar
SHISA5_chr3_48462876_48509174	48486239	C C	CATATATT others(373): Show CATATATTATATACTATATATATATTATATATATTATATATTATATACTA TATATATTATATATACTATAGTATATATTATATATTATATAATATAGTAT ATATTATATAATATATAATATAGTATATATTATATAATATATAATATAGT ATATATTATATAATATATAATATAGTATATATTATATAATATATAATATA GTATATATTATATAATATATACTATATTATATATAGTATATAATACATTA TATGTTATATAACATATAATGTATTATATGTTATATATAATACATTATAT GTTATATAACATATAATGTATTATATGTTATATGTTATATAACATATAAT ACATTATATGTTATATAACATATAATGTATT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	54	0.0185	380	c.234 others(397): Show c.234-6983_234-6982insAATACATTATATGTTATATAACATATAA TGTATTATATGTTATATAACATATAACATATAATACATTATATGTTATAT AACATATAATGTATTATATATAACATATAATACATTATATGTTATATAAC ATATAATGTATTATATACTATATATAATATAGTATATATTATATAATATA TACTATATTATATATTATATAATATATACTATATTATATATTATATAATA TATACTATATTATATATTATATAATATATACTATATTATATATTATATAA TATATACTATATTATATAATATATAATATATACTATAGTATATATAATAT ATATAGTATATAATATATAATATATATAATATATATATAGTATATAATAT AT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SIGIRR_chr11_400716_419999	401878	G G	GGCCCCGC others(373): Show GGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGG CCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	182	0.0055	380	c.40 others(391): Show c.4017_*4018insGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAG CGGGGCTGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGG GGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGT GTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGA GCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCG GGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3837		chr11	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(373): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCT CGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTG GCCGGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	12	0.0833	380	c.209 others(397): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCC CCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(373): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCT CGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTG GCCGGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	12	0.0833	380	c.209 others(397): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC CCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(373): Show CGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCC GGGGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGC TGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCT CGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTG GCCGGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	12	0.0833	380	c.209 others(397): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCC CCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGC CC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(373): Show ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT ATACATATGTATATATGCATATATGTACATATGTACATATATACATATGT ATATATGCATATATGTACATATGTACATATATACATATGTATATATGCAT ATATGTACATGTGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT GTACATATGTATATATGCATATATGTACATATGTACATATGTACATATGT ATATATACATATATGTACATATGTACATATG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0148 a0001c0001t0018g0148	1	155	0.0065	380	c.173 others(399): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATATACATATGTATATATGCATATATGTACATATGTACATA TATACATATGTATATATGCATATATGTACATGTGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATGTACATATGTATATATGCATATATGTACA TATGTACATATGTACATATGTATATATACATATATGTACATATGTACATA TGTA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(373): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATAGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	46	0.0217	380	c.176 others(397): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACTATATATATTATATATA CAATATATAATATATACAATATATATATTATATATACAATATATAATATA TACAATATATATATTATATATACAATATATAATATATACAATATATATAT TATATATACAATATATAATATATACAATATATATATTATATATACAATAT ATAATATATACAATATATAATATATACTATATATATTATATACAATATAT AATATATACTATATATATTATATACAATATATAATATATACTATATATAT TATATATACAATATAAAATATATATAATATATATTAGATATACAATATAT AT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(373): Show AGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCGGAGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGG GCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCAGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0038 a0001c0003t0014g0038	1	208	0.0048	380	c.115 others(397): Show c.1156+266_1156+267insCCTGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC CCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC CACCCAGTGCCTTCTCCGCCCTGACCCTCCCGGCCCCCCACCCAGTGCCT TC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(373): Show AGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGG GTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGG GAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	208	0.0048	380	c.115 others(397): Show c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC TTCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC CCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCC CACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCT TC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414431	A A	ACTGGGTG others(373): Show ACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGC AGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAG GCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGG GGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGG GCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGA AGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTG GGGGGCCTGGAGGGGCAGGGCGGGGAAGGCG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0123 a0001c0001t0002g0124	2	316	0.0063	380	c.115 others(397): Show c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCTCCAGGCC CCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGG CCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG TGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGC CCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCC GGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC AG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414498	G G	GGGGAAGG others(373): Show GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC TGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCA CTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG CCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0021 a0001c0006t0021	a0001c0006t0021g0041 a0001c0006t0021g0041	1	295	0.0034	380	c.115 others(397): Show c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCA GTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTT CCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCC CGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACC CAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC TGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCT CCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC CC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92143358	C C	CATATATA others(373): Show CATATATATATTATATAATATATATATAAAATATATATATATTATATAAT ATATATATAAAATATATATATATTATATATAAAATATATATATTATATAA TATATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATGTAATATT ATATATAATATATATATTATATATATTATATATTATATATATTATATATA TTATATATAATATATATTATATATTATATATATTATATATATTATATATA ATATATTATATATAATATATATAATATATATAATATATATAATATATATA TTATATATAATATATATAATATATATAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0032 a0002c0003t0032	a0002c0003t0032g0076 a0002c0003t0032g0076	1	25	0.0400	380	c.151 others(399): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATATAAAATATATATATTATATAATA TATATATAAAATATATATATTATATAATATATATATAAAATATATATATT ATATAATATATATATAAAATATATATATTATATAATATATGTAATATTAT ATATAATATATATATTATATATATTATATATTATATATATTATATATATT ATATATAATATATATTATATATTATATATATTATATATATTATATATAAT ATATTATATATAATATATATAATATATATAATATATATAATATATATATT ATATATAATATATATAATATATATAAAAAATATATATATTATATAATATA TATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNTG2_chr2_945849_1372613	1221592	C C	CTCTGCCT others(373): Show CTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCT CTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCT GCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTCT CTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCT CTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCC CTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGT CTCTGTCTCTCTCCGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCT GTCTCTCTCTGTCTCTCTCTGTCTCTGCCTA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0143 a0007c0016t0001g0143	1	160	0.0063	380	c.719 others(399): Show c.719+12362_719+12363insTCTGCCTCTGTCTCTGCCTCTCTGTG TCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTT TGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTC TGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTC TCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTC TCTGTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCTCTCTCTGTC TCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTG CCTA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SORCS2_chr4_7187538_7747827	7449043	C C	CCCTTCCT others(373): Show CCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCT TCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0137 a0001c0001t0012g0137	1	116	0.0086	380	c.548 others(399): Show c.548+52691_548+52692insTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(373): Show CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04115.hp2 HG03017.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0011 a0001c0001t0002 a0001c0002t0011	a0001c0001t0002g0130 a0001c0002t0011g0112 a0001c0001t0002g0130 a0001c0002t0011g0112	2	67	0.0299	380	c.548 others(399): Show c.548+52889_548+52890insTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449285	T T	TCCTCCCC others(373): Show TCCTCCCCTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCT CCCTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCC CTCCCTCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTC CCTTCCGTACTTCCTCTCCCCTCCCTCCCTCTTTTCCTTTCTCTCCCCTC CATCCCGCCCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0021 a0001c0030t0021	a0001c0030t0021g0109 a0001c0030t0021g0109	1	137	0.0073	380	c.548 others(399): Show c.548+52936_548+52937insCTCCTTCCTCCCTCCCTCCCTTCCTC CCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCC TCCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTC CTTCCTCCCTCCCTTCCCTCCCTCCTCCCTTCCTCCCTCCCTTCCTCCCT CCCTCCCTTCCTCCCTCCCTTCCGTACTTCCTCTCCCCTCCCTCCCTCTT TTCCTTTCTCTCCCCTCCATCCCGCCCTCCCTCCCTTCCTCTTTTCCCTC TCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TCCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATC1L_chr21_46156160_46189459	46184511	C C	CCAACCCA others(373): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAT GGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGATGGGTACTCAGGACCACCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	92	0.0109	380	c.-11 others(391): Show c.-1115_-1114insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		53		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46184716	A A	AGGACCAC others(373): Show AGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGG GCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGA TGGGCACCCACCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCC CTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCT CCAGCCCTGTGACGGGCACCCACCACCACCATCCCAGTGGGCCGGCCACA CCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCAACCCAGTGGGCCG GCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGG CCGGCCACACCTCCAGCCCTGTGACGGGCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01361.hp2 HG01981.hp1 others(8): Show HG00099.hp2 HG01361.hp2 HG01981.hp1 HG02630.hp1 HG02683.hp1 HG02735.hp2 HG02896.hp1 HG03239.hp2 HG03688.hp2 HG04184.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0021 a0001c0003t0004 a0001c0003t0021	a0001c0003t0004g0008 a0001c0003t0004g0026 a0001c0003t0004g0027 others(7): Show a0001c0003t0004g0008 a0001c0003t0004g0026 a0001c0003t0004g0027 a0001c0003t0004g0028 a0001c0003t0004g0029 a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0032 a0001c0003t0004g0033 a0001c0003t0021g0025	11	250	0.0440	380	c.-13 others(391): Show c.-1320_-1319insGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCC ACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGG CCCACTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGT GGCCGGCCCACTGGGATGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGG TGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGC TGGAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCA CAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCG TCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		258		chr21	TogoVar
SPNS3_chr17_4428940_4493204	4462586	C C	CACCAATC others(373): Show CACCAATCCATCCACCCACCCATCCACCAATCCATCCATCCACCCACCCA CCCACCCACCCACCAATGCATCCATCCACCCACCCACCCACCCACCCACC CATCCATCCACCAGTCTATCAATCCATCTATCCATCCATCCACCAATCCA TCCATCCATCCATCCATCCATCCATCCACCAGTCTATCAATCCATCTATC CATCCATCCACCAATCCATCCATCCATCCATCCATCCACCCATCCACCAA TCCATCCATCCACCAATCCATCCATCTACCCACCCACCAATCCATCCATC CATCCATCCATCCACCCACCCACCCACCCACCCACCCATTCATCCACCAA TCTATCCATCCATCCATCCATCCACCAATCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01169.hp1 others(1): Show HG01109.hp2 HG01167.hp1 HG01169.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0003 a0002c0002t0001 a0002c0011t0003	a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 others(1): Show a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0011t0003g0281	4	123	0.0325	380	c.111 others(399): Show c.1113+9382_1113+9383insCCAATCCATCCACCCACCCATCCACC AATCCATCCATCCACCCACCCACCCACCCACCCACCAATGCATCCATCCA CCCACCCACCCACCCACCCACCCATCCATCCACCAGTCTATCAATCCATC TATCCATCCATCCACCAATCCATCCATCCATCCATCCATCCATCCATCCA CCAGTCTATCAATCCATCTATCCATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCATCCATCTA CCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCCACC CACCCACCCATTCATCCACCAATCTATCCATCCATCCATCCATCCACCAA TCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCK3_chr4_166728384_167239494	167108995	T T	TATAAAAA others(373): Show TATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATA TATTTATATAAAAATATATAAAAATATATATTTATATAAAAATATATAAA AATATATATTTATATAAAAATATGTATAAATATATATTTATATAAAAATA TGTATAAATATATATTTATATATAAATATATAAAAATATATATAAATATA TATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATA AATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATA TATATAAATATATATTTATATATAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	74	0.0135	380	c.190 others(399): Show c.190-46459_190-46458insTTTTATATAAATATATATTTATATAT ATTTTTATATAAATATATATTTATATATATTTATATATAAATATATATTT ATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATAT ATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATAT AAATATATATTTATATATATTTTTATATATTTATATATAAATATATATTT ATACATATTTTTATATAAATATATATTTATACATATTTTTATATAAATAT ATATTTTTATATATTTTTATATAAATATATATTTTTATATATTTTTATAT AAATATATATTTATATATATTTTTATATAAATATATATTTATATATATTT TTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SRXN1_chr20_641615_658200	642207	T T	TGCCCAGC others(373): Show TGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCG GGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGG GGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGAT GGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	366	0.0027	380	c.65 others(391): Show c.6506_*6507insCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATC CCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCC ACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGC TGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4407		chr20	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(373): Show GTATATATACGTGTATATATATACGTGTATATATACGTGTATATATATAC GTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACAC GTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGT GTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGT ATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGT ATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTATAT ATATACACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	87	0.0115	380	c.271 others(397): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTGTA TATATATACACGTGTATATATACACACACGTATATATATACACGTGTATA TATACACACACGTATATATATACACGTGTATATATACACACACGTATATA TATACACGTGTATATATACACACACGTATATATATACACGTGTATATATA CACACACGTATATATATACACGTGTATATATACACACACGTATATATATA CACGTGTATATATACACACACGTATATATATACACGTGTATATATACACA CACGTATATATATACACGTATATATACACGTATATATATACACGTATATA TA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(373): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACACGTGTGTATATATACACGT GTATATATATACACGTGTGTATATATACACGTGTATATATATACACGTGT GTATATATACACGTGTATATATATACACGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	87	0.0115	380	c.271 others(397): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACGTGTATATATATACACGTGTATATA TACACACGTGTATATATATACACGTGTATATATACACACGTGTATATATA TACACGTGTATATATACACACGTGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACACACGTATATATATACACGTGTATATATACACGTA TATATATACACGTATATATACACACACACGTATATATATACACGTATATA TA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(373): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACACGTGTGTATATATACACGTGTATATATATACACGTGT GTATATATACACGTGTATATATATACACGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19082.hp2 NA19007.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0087 a0001c0001t0004g0088	2	88	0.0227	380	c.271 others(397): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACGTGTATATATATACACGTGTATATA TACACACGTGTATATATATACACGTGTATATATACACACGTGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACACACGTATATATATACACGTGTATATATACACGTA TATATATACACGTATATATACACACACACGTATATATATACACGTATATA TA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(373): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACACGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	87	0.0115	380	c.271 others(397): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACGTGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACACACGTATATATATACACGTGTATATATACACGTA TATATATACACGTATATATACACACACACGTATATATATACACGTATATA TA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(373): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACACGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	87	0.0115	380	c.271 others(397): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACGTGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACACACGTATATATATACACGTGTATATATACACGTA TATATATACACGTATATATACACACACACGTATATATATACACGTATATA TA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(373): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACACGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18984.hp2 HG03130.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0075 a0001c0002t0001g0080 a0001c0001t0005g0075 a0001c0002t0001g0080	2	88	0.0227	380	c.271 others(397): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACGTGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACACACGTATATATATACACGTGTATATATACACGTA TATATATACACGTATATATACACACACACGTATATATATACACGTATATA TA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(373): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01070.hp1 others(14): Show HG00438.hp1 HG00558.hp2 HG01070.hp1 HG01071.hp2 HG02055.hp1 HG02135.hp2 HG02451.hp2 HG02486.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03225.hp1 HG03516.hp1 HG03704.hp1 NA18963.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0021 a0001c0002t0001 a0001c0010t0001	a0001c0001t0001g0058 a0001c0001t0002g0063 a0001c0001t0002g0189 others(14): Show a0001c0001t0001g0058 a0001c0001t0002g0063 a0001c0001t0002g0189 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0005g0062 a0001c0001t0005g0074 a0001c0001t0005g0106 a0001c0001t0007g0059 a0001c0001t0007g0060 a0001c0001t0007g0061 a0001c0001t0007g0064 a0001c0001t0021g0289 a0001c0002t0001g0119 a0001c0002t0001g0186 a0001c0002t0001g0263 a0001c0010t0001g0264	17	103	0.1650	380	c.271 others(397): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACACACGTATATATATACACGTGTATATATACACGTA TATATATACACGTATATATACACACACACGTATATATATACACGTATATA TA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(373): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATATACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG01884.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0134 a0001c0001t0005g0044 a0001c0001t0001g0134 a0001c0001t0005g0044	2	88	0.0227	380	c.271 others(397): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTATA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACACACGTATATATATACACGTGTATATATACACGTA TATATATACACGTATATATACACACACACGTATATATATACACGTATATA TA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(373): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTGTATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0271	1	87	0.0115	380	c.271 others(397): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATACACACACACGTATATATATACACGTGTATATATACACGTA TATATATACACGTATATATACACACACACGTATATATATACACGTATATA TA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(373): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTGTGTGTATATATACGTGTATATATATACGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACACGTGTGTATATATACACGTGTATATATATACACGTGT GTATATATACACGTGTATATATATACACGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	87	0.0115	380	c.271 others(397): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACGTGTATATATATACACGTGTATATA TACACACGTGTATATATATACACGTGTATATATACACACGTGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACGTATATATATACACGTATATATACACACACACGTA TATATATACACGTATATATACACACACACGTATATATATACACGTATATA TA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(373): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTGTGTGTATATATACGTGTATATATATACGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACACGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	87	0.0115	380	c.271 others(397): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACGTGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACGTATATATATACACGTATATATACACACACACGTA TATATATACACGTATATATACACACACACGTATATATATACACGTATATA TA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(373): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTGTGTGTATATATACGTGTATATATATACGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03239.hp2 NA19091.hp1 HG02155.hp1 HG03239.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0003g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0003g0191	3	89	0.0337	380	c.271 others(397): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACGTATATATATACACGTATATATACACACACACGTA TATATATACACGTATATATACACACACACGTATATATATACACGTATATA TA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(373): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTGTGTGTATATATACGTGTATATATATACGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATATACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19058.hp1 NA18999.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0281 a0001c0001t0002g0282	2	88	0.0227	380	c.271 others(397): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTATA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACGTATATATATACACGTATATATACACACACACGTA TATATATACACGTATATATACACACACACGTATATATATACACGTATATA TA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar

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