Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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No_hapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCGB1C1_chr11_188078_199575	196510	C C	CTGGTGAG others(231): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGG ACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGG GGAGCATGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTG AGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCT TGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	354	0.0028	238	c.20 others(249): Show c.2060_*2061insTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGA GGGGACATGGTGAGGGGAGCATGGTGAGGGGACATGGGGGGGACCTTGGT GAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAAC ATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGG ACCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1936		chr11	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(231): Show ATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTAT AAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAA ACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	386	0.0026	238	c.21+ others(253): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TACACTGCACTGTTTATACTGCACTGTTTATACTGCACTGTTTACACTGC ACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCLY_chr2_238056001_238104413	238098609	C C	CCGCCCAC others(231): Show CCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCAC ATGGGACCGCCCACATGGGAACGCCCACATGGGACCGCCCACATGGGAAC GCCCACATGGGACCGCCCACATGGGAACGCCCACATGGGACCGCCCACAT GGGACCGCCCACATGGGAACGCCCACATGGGAACGCCCACATAGAACCGT CCACATGGGACCGCCCACATGGGACCGCCCACATGGGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0128	a0001c0001t0128g0003 a0001c0001t0128g0003	1	392	0.0026	238	c.30 others(247): Show c.305_*306insGGGACCGCCCACATGGGAACGCCCACATGGGACCGC CCACATGGGAACGCCCACATGGGACCGCCCACATGGGAACGCCCACATGG GACCGCCCACATGGGACCGCCCACATGGGAACGCCCACATGGGAACGCCC ACATAGAACCGTCCACATGGGACCGCCCACATGGGACCGCCCACATGGGA ACGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCAC AT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	306	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288355	C C	CTCTGCTC others(231): Show CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCATGTCTCCGCTCCATCCCATGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0030 a0030	a0030c0024 a0030c0024	a0030c0024t0001 a0030c0024t0001	a0030c0024t0001g0051 a0030c0024t0001g0051	1	290	0.0035	238	c.166 others(255): Show c.1662+336_1662+337insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCATGTCTCCGCTCCATCCCATGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCC GTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444820	T T	TATATACA others(231): Show TATATACACATATATTCGTATGAATATATACACATATATTCGTATGAATA TATACACATATATTCGTATGAATATATACACATATATTCGTATGAATATA TACACATATATTCGTATGAATATATACACATATATTCGTATGAATATATA CACATATATTCGTATGAATATATACACATATATTCGTATGAATATATACA CATATATTCGTATGAATATATACACATATATTCGTATGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	290	0.0035	238	c.114 others(257): Show c.1140+1938_1140+1939insTCATACGAATATATGTGTATATATTC ATACGAATATATGTGTATATATTCATACGAATATATGTGTATATATTCAT ACGAATATATGTGTATATATTCATACGAATATATGTGTATATATTCATAC GAATATATGTGTATATATTCATACGAATATATGTGTATATATTCATACGA ATATATGTGTATATATTCATACGAATATATGTGTATATATTCATACGAAT ATATGTGTATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SERAC1_chr6_158104519_158173262	158169680	T T	TGTATATT others(231): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAATATATTGTATATTATATATAATATATTGTATATTATATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATAATA TATTGTATATTATATATTATATAATATATTGTATATTATATATTATATAA TATATAATATACAATATATTATATAATATATAATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	366	0.0027	238	c.-15 others(249): Show c.-1543_-1542insTGTATATTATATATTATATAATATATTGTATATT ATATATTATATAATATATAATATACAATATATTATATAATATATAATATA CAATATATTATATAATATACAATATATTATATAATATATAATATACAATA TATTATATATAATATACAATATATTATATATAATATACAATATATTATAT ATAATATACAATATACAATATATTATATAATATACAATATATTATATAAT ATAC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1419		chr6	TogoVar
SGCD_chr5_156322164_156772788	156549148	A A	ATTTTTTT others(231): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0032 a0001c0002t0013g0032	1	150	0.0067	238	c.295 others(257): Show c.295-40080_295-40079insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTTT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIGIRR_chr11_400716_419999	401948	G G	GCCCCGCT others(231): Show GCCCCGCTCACACCCGACCCGCTCACACCCAACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	242	0.0041	238	c.39 others(249): Show c.3947_*3948insGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAG CGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGG TCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTGTGAGCGGGGTC CGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGG TGAGCGGGTCGGGGGTGAGCGGGTTGGGTGTGAGCGGGTCGGGTGTGAGC GGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3767		chr11	TogoVar
SIGIRR_chr11_400716_419999	401948	G G	GCCCCGCT others(231): Show GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02293.hp2 NA18971.hp1 others(2): Show HG02071.hp1 HG02293.hp2 NA18971.hp1 NA18986.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0048 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0072	5	242	0.0207	238	c.39 others(249): Show c.3947_*3948insGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAG CGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGG TCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTGTGAGCGGGGTC CGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGG TGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGC GGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3767		chr11	TogoVar
SIGIRR_chr11_400716_419999	402320	G G	GGCCCCGC others(231): Show GGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACACCCGACC CGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTC ACCCCCGACCCGCTCACCCCGGACCCTGCTCACACCGGACCCCGCTCACA CCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCG ACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	242	0.0041	238	c.35 others(249): Show c.3575_*3576insGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAG CGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGG CCGGGTGTGAGCGGGGTCCGGTGTGAGCAGGGTCCGGGGTGAGCGGGTCG GGGGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGT GAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCG GGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3395		chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGTG others(231): Show GGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGG TGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCTC TGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCT GGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTCG GGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	242	0.0041	238	c.-15 others(257): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCTCCCCCGACTGCAT CCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCATCCAGACATGG TCAGAGCTGGGCACCCCCCCCCCGACTGTATCCAGACATGGTCAGAGCTG GGCACCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SKI_chr1_2223319_2315213	2280743	C C	CGAGAAGA others(231): Show CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG GCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGG AGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTT CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	330	0.0030	238	c.970 others(257): Show c.970-22221_970-22220insCGGCGGCGATCTTCAGAGAGAGGACG CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGA GGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG CGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGT GGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA GAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280743	C C	CGAGAGGA others(231): Show CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG GCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTT CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0005 a0001c0001t0024g0005	1	330	0.0030	238	c.970 others(257): Show c.970-22231_970-22230insGGACAGGCGGCGGCGGCGATCTTCAG AGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGG ACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCG AGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGAC AGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGA AGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280907	A A	AGGACGCC others(231): Show AGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGC GGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATC TTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAG AGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGAC GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	330	0.0030	238	c.970 others(257): Show c.970-22064_970-22063insTGAGAAGACAGGCGGTGGCGGAGATC TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA GGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCG GCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGA TCTTCATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGCGGACGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280936	C C	CGATCTTC others(231): Show CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTT CAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAG AGGATGCCCGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC CTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC TTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0040 a0001c0006t0040	a0001c0006t0040g0053 a0001c0006t0040g0053	1	330	0.0030	238	c.970 others(257): Show c.970-22029_970-22028insCGGACGCCCGAGAGGACAGGCGGCGG CGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGAT CTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGTGGAGATCTTCAGA GAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGT GGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280958	C C	CGAGAGGA others(231): Show CGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGG ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0290	1	330	0.0030	238	c.970 others(257): Show c.970-22016_970-22015insGGACAGGCGGCGGCGGAGATCTTCAG AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA AGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281001	C C	CGAGAGGA others(231): Show CGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGG ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0039 a0001c0011t0039	a0001c0011t0039g0071 a0001c0011t0039g0071	1	330	0.0030	238	c.970 others(257): Show c.970-21973_970-21972insGGACAGGCGGCGGCGGAGATCTTCAG AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA AGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281019	C C	CGGAGATC others(231): Show CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGAT CTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATA GAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGT GGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03579.hp2 HG02622.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0002 a0001c0001t0026	a0001c0001t0002g0072 a0001c0001t0026g0295 a0001c0001t0002g0072 a0001c0001t0026g0295	2	330	0.0061	238	c.970 others(257): Show c.970-21957_970-21956insAGATCTTCAGAGAGAGGATGCCCGAG AGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAG GCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAG ACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGAC AGGCGGTGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281390	C C	CGAGAAGA others(231): Show CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCG GCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGG AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTT CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	330	0.0030	238	c.970 others(257): Show c.970-21574_970-21573insCGGCGGCGATCTTCAGAGAGAGGACG CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGA AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGG CGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGC GGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA GAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281425	A A	AGGACACC others(231): Show AGGACACCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGC GGAGATCTTCAGAGAGAAGACGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG AGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAA GCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0040 a0001c0006t0040	a0001c0006t0040g0053 a0001c0006t0040g0053	1	330	0.0030	238	c.970 others(257): Show c.970-21550_970-21549insCACCTGAGAAGACAGGCAGTGGCGGA GATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC GGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281438	A A	AGACAGGC others(231): Show AGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA GAGAAGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGA CGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGA GAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACA GGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	330	0.0030	238	c.970 others(257): Show c.970-21533_970-21532insAGTGGCGGAGATCTTCATAGAGAGGT GGCGGAGATCTTCAGAGAGAAGACGCCCGAGAAGACAGGCGGCGGCGGCG ATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCA GAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCG GACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCC GAGAGGACAGGC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281531	C C	CGGCGGCG others(231): Show CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC GGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATC TTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAG AGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	330	0.0030	238	c.970 others(257): Show c.970-21445_970-21444insCGGCGGCGATCTTCAGAGAGCGGACG CCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGA GGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGG CGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA CACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281537	T T	TGGAGATC others(231): Show TGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGAT CTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGAC AGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGC GGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAG ATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0002 a0002c0015t0002	a0002c0015t0002g0185 a0002c0015t0002g0185	1	330	0.0030	238	c.970 others(257): Show c.970-21430_970-21429insGAGAGAGGACGCCTGAGAAGACAGGC GGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC ACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAG AGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAG GCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGG CGGAGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281855	A A	AGGACACC others(231): Show AGGACACCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGTGGC GGAGATCTTCAGAGAGAAGACGCCCGAGAAGACAGGCGGCGGTGGCGATC TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG AGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGAC GCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0258 a0001c0001t0012g0258	1	330	0.0030	238	c.970 others(257): Show c.970-21119_970-21118insACCTGAGAAGACAGGCAGTGGCGGAG ATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACGCCCGAGAAG ACAGGCGGCGGTGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG GCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGG CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTT CAGAGAGCGGAC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282035	C C	CGAGAAGA others(231): Show CGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG GCAGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCAGTGGTGG AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTT CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	330	0.0030	238	c.970 others(257): Show c.970-20934_970-20933insTGCGGCGGCGGCGATCTTCAGAGAGC GGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCC CGAGAGGACAGGCGGCAGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGG ACAGGCAGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA CGTGAGAAGACA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282090	C C	CGGTGGCG others(231): Show CGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAG AGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC GCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0083 a0001c0001t0081g0083	1	330	0.0030	238	c.970 others(257): Show c.970-20864_970-20863insGACGCCTGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGA GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG CCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT CTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747387	G G	GGGGCGGG others(231): Show GGGGCGGGGCAGGGGGTGAGCAGGGCCCGGTGGAGGTTGGGAGGGGGGCC AGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGGCGGGGCAGGGGGTGAGC AGGGCCCGGTGGAGGTTGGGGTGGGGGGGGCAGGGGGTGAGCAGGGCCTG GTGGGTGGGGGGGGTGCGGGGGTGAGCAGGGCCTGGTGGAGGTTGGAAGG GGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	416	0.0024	238	c.43 others(249): Show c.4397_*4398insGGGCGGGGCAGGGGGTGAGCAGGGCCCGGTGGAG GTTGGGAGGGGGGCCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGGCG GGGCAGGGGGTGAGCAGGGCCCGGTGGAGGTTGGGGTGGGGGGGGCAGGG GGTGAGCAGGGCCTGGTGGGTGGGGGGGGTGCGGGGGTGAGCAGGGCCTG GTGGAGGTTGGAAGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTGG GGGA	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3338		chr20	TogoVar
SLC35F1_chr6_117902264_118322671	117923608	C C	CATATATG others(231): Show CATATATGTACATATGTACATATATACATATGTGTATATACATATATGTA CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA TATATACATATGTATATATACATATATGTACATATGTACATATATACATA TGTATATATACATATATGTACATATGTACATATATACATATATACATATA TACATATATGTACATATGTACATATATACATATGTACAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0110 a0001c0001t0024g0110	1	182	0.0055	238	c.173 others(257): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TGTATATACATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTACATATATACATATGTATATATACATATATGTACA TATGTACATATATACATATGTATATATACATATATGTACATATGTACATA TATACATATATACATATATACATATATGTACATATGTACATATATACATA TGTACATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923608	C C	CATATATG others(231): Show CATATATGTACATATGTACATATATACATATGTGTATATACATATATGTA CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA TATATACATATGTATATATACATATATGTACATATGTACATATATACATA TGTATATATACATATATGTACATATGTACATATATACATATATACATATA TACATATATGTACATATGTACATATATGTATATGTACAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	182	0.0055	238	c.173 others(257): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TGTATATACATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTACATATATACATATGTATATATACATATATGTACA TATGTACATATATACATATGTATATATACATATATGTACATATGTACATA TATACATATATACATATATACATATATGTACATATGTACATATATGTATA TGTACATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923694	C C	CATATACA others(231): Show CATATACATATATGTACATATGTACATATACACATATGTACATATACATA CATATATGTACATATGTACATATATGTACATATATGTACATATGTACATA TATGTACATATATGTACATATGTACATATATGTACATATACATATGTACA TATATGTACATATGTACATATACATATATGTACACATGTACATATACATA TGTATATGTGTACATATGTACATATATATACATATGTAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0182 a0001c0001t0004g0182	1	182	0.0055	238	c.173 others(257): Show c.173+15815_173+15816insGTACATATACACATATGTACATATAC ATACATATATGTACATATGTACATATATGTACATATATGTACATATGTAC ATATATGTACATATATGTACATATGTACATATATGTACATATACATATGT ACATATATGTACATATGTACATATACATATATGTACACATGTACATATAC ATATGTATATGTGTACATATGTACATATATATACATATGTATATATACAT ATATGTACATAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(231): Show AAATATAAATATATTATATATATTATATATAAATATAAATATATTGTATA TATTATATATAAATATAAATATATTGTATATATTATATATAAATATAAAT ATATTATATATATTATATATAAAATATAAATATATTATATATATTATATA TAAATATAAATATATTATATATATTATATATAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0240 a0003c0006t0005g0240	1	346	0.0029	238	c.-70 others(255): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTTATATATAATATATATAATATATTTATATTTTATATATAAT ATATATAATATATTTATATTTATATATAATATATACAATATATTTATATT TATATATAATATATACAATATATTTATATTTATATATAATATATATAATA TATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(231): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02451.hp1 others(3): Show HG01884.hp2 HG02109.hp2 HG02451.hp1 HG02809.hp2 HG03098.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0004 a0001c0008t0001	a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0106 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0106 a0001c0001t0006g0084 a0001c0002t0004g0082 a0001c0008t0001g0137	6	156	0.0385	238	c.176 others(255): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATAATATATACTATATATATTATATA CAATATATAATATATACTATATATATTATATACAATATATAATATATACT ATATATATTATATATACAATATAAAATATATATAATATATATTAGATATA CAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC7A1_chr13_29504414_29600688	29559243	G G	GTGAATGA others(231): Show GTGAATGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGGGG GGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAAT GTGAATGAGGGGGAGAGAATGTGAGTGAGCGGGAGAGAATGTGAGTGAGG GGGAGTGAATGTGAGTGAGGGGGAGTGAATCTGAATGAGGGGGGAGTGAA TGTGATGGGGGAGAGAATGTGAGTGAGGCGGAGTGAATC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	330	0.0030	238	c.-11 others(257): Show c.-114-5384_-114-5383insGATTCACTCCGCCTCACTCACATTCT CTCCCCCATCACATTCACTCCCCCCTCATTCAGATTCACTCCCCCTCACT CACATTCACTCCCCCTCACTCACATTCTCTCCCGCTCACTCACATTCTCT CCCCCTCATTCACATTCACTCCCCCCTCACTCACATTCACTCCCCCTCAC TCACATTCACTCCCCCCACTCACATTCTCTCCCCCTCACTCACATTCTCT CCCCCTCATTCA	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLCO3A1_chr15_91848708_92170903	92143399	A A	ATAATATA others(231): Show ATAATATATGTAATATTATATATAATATATATAATATATATTATATATAA TAAATATATATATTATATATATATATATATATATTATATATAATATATAT AATATATATATTATATATTATATATATTATATATTATATATATTATATAT ATATATAATATATATATATTATATATATATTATATATATTATATATTATA TATATATTTATATATATATATAATATATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	190	0.0053	238	c.151 others(257): Show c.1513-3585_1513-3584insTAATATATGTAATATTATATATAATA TATATAATATATATTATATATAATAAATATATATATTATATATATATATA TATATATTATATATAATATATATAATATATATATTATATATTATATATAT TATATATTATATATATTATATATATATATAATATATATATATTATATATA TATTATATATATTATATATTATATATATATTTATATATATATATAATATA TATAAAATATAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SNAPC4_chr9_136370571_136405170	136403298	A A	AGGGAGCA others(231): Show AGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTTCCTGG GAGCAAGGGGTGGGGTTTGCCGGGGGGAGAAAGGGACAGGGTTCCTGGGA GCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGAGCA AGGGGTGGGGTTTGCCGGGGGGAGAAAGGGACAGGGTTCCTGGGAGCAAG GGGTGGGGTTTGCCGGGGGGAGAAAGGGACAGGGTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0220 a0003c0003t0002g0220	1	380	0.0026	238	c.-31 others(249): Show c.-3175_-3174insAGGAACCCTGTCCCTTTCTCCCCCCGGCAAACCC CACCCCTTGCTCCCAGGAACCCTGTCCCTTTCTCCCCCCGGCAAACCCCA CCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCC CTTGCTCCCAGGAACCCTGTCCCTTTCTCCCCCCGGCAAACCCCACCCCT TGCTCCCAGGAACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGC TCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3129		chr9	TogoVar
SNX12_chrX_71054247_71073334	71071574	A A	ATATATAT others(231): Show ATATATATAAATATATAATATTTATATATTATATATATAAATATATAATA TTTATATATTATATATATAAATATATAATATTTATATATTATATATATAA ATATATAATATTTATATATTATATATATAAATATATAATATTTATATATT ATATATAAATATATAATATTTATATATTATATATATAAATATATAATATT TATATATATTATATATAAATATATAATATTTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	309	0.0032	238	c.-32 others(249): Show c.-3269_-3268insATATATATAAATATTATATATTTATATATAATAT ATATAAATATTATATATTTATATATATAATATATAAATATTATATATTTA TATATAATATATAAATATTATATATTTATATATATAATATATAAATATTA TATATTTATATATATAATATATAAATATTATATATTTATATATATAATAT ATAAATATTATATATTTATATATATAATATATAAATATTATATATTTATA TATA	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3241		chrX	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(231): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATATAAATATATATATAT TTATATATATAAATATATATATATAAATATATATATATAAATATATATAT ATTTATATATATAAATATATATATATAAATATATATATATTTATATATAT AAATATATATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0195 a0001c0002t0047g0195	1	382	0.0026	238	c.159 others(255): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATAAATATATATATATAAATATATATATATA AATATATATATATTTATATATATAAATATATATATATAAATATATATATA TTTATATATATAAATATATATATATTTATATATATAAATATATATATATT TATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(231): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATATAAATATATATATAT TTATATATATAAATATATATATATAAATATATATATATTTATATATATAA ATATATATATATAAATATATATATATTTATATATATAAATATATATATAT AAATATATATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02280.hp1 HG02818.hp1 others(4): Show HG02004.hp2 HG02280.hp1 HG02818.hp1 HG02886.hp1 HG03471.hp2 NA18994.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0002t0038 a0001c0001t0004 a0001c0002t0001 a0001c0002t0038	a0001c0001t0004g0036 a0001c0002t0001g0073 a0001c0002t0001g0074 others(4): Show a0001c0001t0004g0036 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0162 a0001c0002t0001g0222 a0001c0002t0038g0076	7	382	0.0183	238	c.159 others(255): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATAAATATATATATATAAATATATATATATT TATATATATAAATATATATATATAAATATATATATATTTATATATATAAA TATATATATATAAATATATATATATTTATATATATAAATATATATATATT TATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SORCS2_chr4_7187538_7747827	7724880	G G	GTGGTGAT others(231): Show GTGGTGATAGTATTGGTGGGAATGGATGGTGGTAGTAGTGGTGATGGTGG TGGTGTTGGTGATGATGGTGGTGATAGTGCTGGTGAGGATGGTGATGGTG GTGATGGTGGTGGTGATGGCAGTGATGATGGTGGAGGTGATGGTGGTAGT GGTGATGATGGTAGTAGTGGTGATGGTGGTGATGGTGGTGGTGATGGCAG TGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0081 a0001c0003t0001g0081	1	168	0.0060	238	c.261 others(255): Show c.2612-269_2612-268insATAGTATTGGTGGGAATGGATGGTGGTA GTAGTGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTGCTGGT GAGGATGGTGATGGTGGTGATGGTGGTGGTGATGGCAGTGATGATGGTGG AGGTGATGGTGGTAGTGGTGATGATGGTAGTAGTGGTGATGGTGGTGATG GTGGTGGTGATGGCAGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGT GATGATGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPINK6_chr5_148198042_148220137	148210338	A A	ATATGTAT others(231): Show ATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACAT ATATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATAC ATATATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCAT ACATATATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGC ATACATATATATGTATGTGTTTCTGCATACATATATATG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp1 HG02280.hp2 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	2	438	0.0046	238	c.82- others(253): Show c.82-3567_82-3566insATGTGTTTCTGCATACATATATATGTATGT GTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATATATGTAT GTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATATATGT ATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATATAT GTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATAT ATGTATGT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137160558	T T	TATATATT others(231): Show TATATATTATATATTATATATTATATATTATATAATATATATAATATATA ATATATAATATATTATATATAATATATAATATATTATATATAATATATAA TATATTATATATAATATATAATATATTATATATAATATATAATATATTAT ATATAATATATTATATATTATATATAATATATAATATATTATATATAATA TATAATATATTATATATAATATATTATATATAATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	152	0.0066	238	c.233 others(257): Show c.233-19865_233-19864insTATATATTATATATAATATATTATAT ATAATATATTATATATTATATATAATATATTATATATTATATATAATATA TAATATATTATATATAATATATTATATATTATATATAATATATTATATAT TATATATAATATATTATATATTATATATAATATATTATATATTATATATA ATATATTATATATTATATATTATATATATTATATAATATATAATATATAA TATATAATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137160616	T T	TATATTAT others(231): Show TATATTATATATAATATATAATATATTATATATAATATATAATATATTAT ATATAATATATTATATATTATATATAATATATTATATATTATATATAATA TATAATATATTATATATAATATATAATATATTATATATAATATATTATAT ATAATATATAATATATTATATATAATATATTATATATTATATATAATATA TAATATATTATATATAATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18979.hp1 HG00408.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0057 a0001c0001t0008g0005 a0001c0001t0008g0057	2	152	0.0132	238	c.233 others(257): Show c.233-19923_233-19922insTATATAAAATATATATTATATATTAT ATATAATATATTATATATTATATATAATATATAATATATTATATATAATA TATTATATATTATATATAATATATTATATATAATATATTATATATTATAT ATAATATATTATATATTATATATAATATATAATATATTATATATAATATA TAATATATTATATATAATATATTATATATTATATATAATATATTATATAT TATATATAATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137160616	T T	TATATTAT others(231): Show TATATTATATATAATATATAATATATTATATATAATATATAATATATTAT ATATAATATATTATATATTATATATAATATATTATATATTATATATAATA TATAATATATTATATATAATATATAATATATTATATATAATATATTATAT ATAATATATAATATATTATATATTATATATAATATATTATATATAATATA TAATATATTATATATAATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0127 a0001c0001t0028g0127	1	152	0.0066	238	c.233 others(257): Show c.233-19923_233-19922insTATATAAAATATATATTATATATTAT ATATAATATATTATATATTATATATAATATATTATATATAATATATAATA TATTATATATTATATATAATATATTATATATAATATATTATATATTATAT ATAATATATTATATATTATATATAATATATAATATATTATATATAATATA TAATATATTATATATAATATATTATATATTATATATAATATATTATATAT TATATATAATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137160616	T T	TATATTAT others(231): Show TATATTATATATAATATATAATATATTATATATAATATATAATATATTAT ATATAATATATTATATATTATATATAATATATTATATATTATATATAATA TATAATATATTATATATAATATATAATATATTATATATAATATATTATAT ATAATATATAATATATTATATATTATATATTATATATTATATATAATATA TAATATATTATATATAATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03017.hp1 HG03834.hp2 others(3): Show HG01257.hp1 HG03017.hp1 HG03834.hp2 NA18747.hp1 NA19004.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0026	a0001c0001t0001g0022 a0001c0001t0001g0078 a0001c0001t0002g0100 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0078 a0001c0001t0002g0100 a0001c0001t0004g0079 a0001c0001t0013g0108 a0001c0001t0026g0085	6	152	0.0395	238	c.233 others(257): Show c.233-19923_233-19922insTATATAAAATATATATTATATATTAT ATATAATATATTATATATTATATATAATATATAATATATAATATATAATA TATTATATATTATATATAATATATTATATATAATATATTATATATTATAT ATAATATATTATATATTATATATAATATATAATATATTATATATAATATA TAATATATTATATATAATATATTATATATTATATATAATATATTATATAT TATATATAATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137160616	T T	TATATTAT others(231): Show TATATTATATATAATATATTATATATTATATATAATATATAATATATTAT ATATAATATATTATATATTATATATAATATATTATATATTATATATAATA TATAATATATTATATATAATATATAATATATTATATATAATATATTATAT ATAATATATAATATATTATATATTATATATTATATATTATATATAATATA TAATATATTATATATAATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0096 a0001c0001t0011g0096	1	152	0.0066	238	c.233 others(257): Show c.233-19923_233-19922insTATATAAAATATATATTATATATTAT ATATAATATATTATATATTATATATAATATATAATATATAATATATAATA TATTATATATTATATATAATATATTATATATAATATATTATATATTATAT ATAATATATTATATATTATATATAATATATAATATATTATATATAATATA TAATATATTATATATAATATATTATATATTATATATAATATATAATATAT TATATATAATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137160616	T T	TATATTAT others(231): Show TATATTATATATAATATATTATATATTATATATAATATATTATATATTAT ATATAATATATTATATATTATATATAATATATTATATATTATATATAATA TATAATATATTATATATAATATATAATATATTATATATAATATATTATAT ATAATATATAATATATTATATATTATATATTATATATTATATATAATATA TAATATATTATATATAATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	152	0.0066	238	c.233 others(257): Show c.233-19923_233-19922insTATATAAAATATATATTATATATTAT ATATAATATATTATATATTATATATAATATATAATATATAATATATAATA TATTATATATTATATATAATATATTATATATAATATATTATATATTATAT ATAATATATTATATATTATATATAATATATAATATATTATATATAATATA TAATATATTATATATAATATATAATATATTATATATAATATATAATATAT TATATATAATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPTSSA_chr14_34427788_34467240	34443514	T T	TGTGTGTG others(231): Show TGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTTTTGAGATGGAGTTTCC TCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTGCAACC TCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTG CTTTGAGATGGAGTTTTCCTCTCATTACCCAGCTGGAGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	344	0.0029	238	c.113 others(255): Show c.113-8211_113-8210insCCTCCAGCTGGGTAATGAGAGGAAAACT CCATCTCAAAGCACACACAAACACACACACACACACACACACACACACAC ACACACACACACACACACCCTCCCCTAGAAGCAGGAGAATCGCTTGAACC TGGGAGGCAGAGGTTGCAGTGAGCTAAGACTGTGCCATTGCACTCCAGCT GGGTAATGAGAGGAAACTCCATCTCAAAACACACACAAACACACACACAC ACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
ST7_chr7_116948501_117235176	117031407	C C	CGCATATA others(231): Show CGCATATATGTGTGTATATGTGCATATATATGCATATATGTGTGTATATG TGCATATATATGCATATATGTGTGTATATGTGCATATATATGCATATATG TGTGTATATGTGCATATATATGCATATATGTGTGTATATGTGCATATATA TGCATATATGTGTGTATATGTGCATATATGCATATATGTGTGTATATGTG CATATATATGCATATATGTGTGTATATGTGCATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	188	0.0053	238	c.152 others(257): Show c.152-68177_152-68176insGCATATATGTGTGTATATGTGCATAT ATATGCATATATGTGTGTATATGTGCATATATATGCATATATGTGTGTAT ATGTGCATATATATGCATATATGTGTGTATATGTGCATATATATGCATAT ATGTGTGTATATGTGCATATATATGCATATATGTGTGTATATGTGCATAT ATATGCATATATGTGTGTATATGTGCATATATATGCATATATGTGTGTAT ATGTGCATATAT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
STARD7_chr2_96179859_96213827	96197066	C C	CAAAATAA others(231): Show CAAAATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATAACATAACATAAAATAAAATAAAATAAAA TAAAATATAAAATAAAATAAAATAAAATAAAATATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT ATAAAATAAAATAAAATAAAATAAAATATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0239 a0002c0002t0002g0239	1	358	0.0028	238	c.291 others(255): Show c.291-1518_291-1517insATTTTATTTTATATTTTATTTTATTTTA TTTTATTTTATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTAT TTTATATTTTATTTTATTTTATTTTATTTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATTTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
SYNJ2BP_chr14_70361499_70422090	70412522	G G	GTATATAT others(231): Show GTATATATGTATGTATAGTATATATACAGTATATATATGTATGTATAGTA TATATACAGTATATATATGTATGTATAGTATATATACAGTATATATGTAT GTATAGTATATATACAGTATATATATGTATGTATAGTATATATACAGTAT ATATATGTATGTATAGTATATATACAGTATATATATGTATGTATAGTATA TATACAGTATATATATGTATGTATAGTATATATACAGTA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18985.hp1 NA18988.hp1 NA18975.hp1 NA18985.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0018g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0018g0086	3	364	0.0082	238	c.64+ others(253): Show c.64+4377_64+4378insTACTGTATATATACTATACATACATATATA TACTGTATATATACTATACATACATATATATACTGTATATATACTATACA TACATATATATACTGTATATATACTATACATACATATATATACTGTATAT ATACTATACATACATATATACTGTATATATACTATACATACATATATATA CTGTATATATACTATACATACATATATATACTGTATATATACTATACATA CATATATA	SYNJ2BP	ENSG00000213463.5	transcript	ENST00000256366.6	protein_coding	1/3			chr14	TogoVar

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