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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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
RPTOR_chr17_80539838_80971368	80963380	G G	GTGCGGCC others(39): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0005 a0001c0019t0005	a0001c0019t0005g0037 a0001c0019t0005g0037	1	196	0.0051	46	c.393 others(63): Show c.3939+346_3939+391dupGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963403	G G	GTGCGGCC others(39): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0028 a0001c0009t0028	a0001c0009t0028g0113 a0001c0009t0028g0113	1	196	0.0051	46	c.393 others(63): Show c.3939+368_3939+369insGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963426	C C	CTGCGGCC others(39): Show CTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp2 HG03239.hp1 others(1): Show HG03041.hp2 HG03130.hp2 HG03239.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0083 a0001c0088 others(1): Show a0001c0009 a0001c0083 a0001c0088 a0002c0063	a0001c0009t0078 a0001c0083t0028 a0001c0088t0007 others(1): Show a0001c0009t0078 a0001c0083t0028 a0001c0088t0007 a0002c0063t0020	a0001c0009t0078g0021 a0001c0083t0028g0158 a0001c0088t0007g0141 others(1): Show a0001c0009t0078g0021 a0001c0083t0028g0158 a0001c0088t0007g0141 a0002c0063t0020g0001	4	196	0.0204	46	c.393 others(63): Show c.3939+392_3939+437dupCTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963518	C C	CTGCGGCC others(39): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02129.hp1 HG02258.hp1 others(1): Show HG01978.hp1 HG02129.hp1 HG02258.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0024 a0001c0001 a0001c0015 a0001c0024	a0001c0001t0019 a0001c0015t0008 a0001c0015t0046 others(1): Show a0001c0001t0019 a0001c0015t0008 a0001c0015t0046 a0001c0024t0003	a0001c0001t0019g0050 a0001c0015t0008g0146 a0001c0015t0046g0079 others(1): Show a0001c0001t0019g0050 a0001c0015t0008g0146 a0001c0015t0046g0079 a0001c0024t0003g0129	4	196	0.0204	46	c.393 others(63): Show c.3939+483_3939+484insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963638	T T	TCCCTCAC others(39): Show TCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0010 a0001c0035t0010	a0001c0035t0010g0063 a0001c0035t0010g0063	1	196	0.0051	46	c.393 others(63): Show c.3939+598_3939+599insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963656	C C	CTGCGGCC others(39): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0084 a0001c0007t0084	a0001c0007t0084g0007 a0001c0007t0084g0007	1	196	0.0051	46	c.394 others(63): Show c.3940-602_3940-601insGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTGTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963725	C C	CTGCGGCC others(39): Show CTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0118 a0001c0002t0017g0118	1	196	0.0051	46	c.394 others(63): Show c.3940-492_3940-491insGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963809	C C	CGTCCCCT others(39): Show CGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0010 a0001c0035t0010	a0001c0035t0010g0063 a0001c0035t0010g0063	1	196	0.0051	46	c.394 others(63): Show c.3940-449_3940-448insCCTCTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCTGTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0286 a0001c0001t0062g0286	1	372	0.0027	46	c.445 others(63): Show c.445-2034_445-2033insATATATATATATATATATATATATATAT ATATATATATATATATAT	RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6			chr6	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GGTGTGTG others(39): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0066 a0002c0001t0066	a0002c0001t0066g0099 a0002c0001t0066g0099	1	388	0.0026	46	c.30 others(57): Show c.3059_*3060insACACACACACACACACACACACACACACACACAC ACACACACACAC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3059		chr22	TogoVar
RSPH14_chr22_23054415_23146990	23130496	A A	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG01071.hp1 others(3): Show HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01257.hp1 HG02523.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0226 a0001c0002t0001g0007 a0001c0002t0001g0048 others(3): Show a0001c0001t0001g0226 a0001c0002t0001g0007 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0087 a0001c0002t0001g0097	6	314	0.0191	46	c.421 others(63): Show c.421+3529_421+3530insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTTATAT others(39): Show TTTTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02896.hp2 HG01255.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0014 a0001c0001t0006g0026 a0001c0001t0001g0014 a0001c0001t0006g0026	2	276	0.0073	46	c.321 others(61): Show c.321-509_321-508insTTATATATATATATATATATATATATATAT ATATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTN1_chr14_59590983_59875776	59750212	A A	ATATATTA others(39): Show ATATATTATATCTATAATATATAATATATATTATATCTATAATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	172	0.0058	46	c.242 others(63): Show c.242-3732_242-3731insATATATTATAGATATAATATATATTATA TATTATAGATATAATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750313	A A	AATATCTA others(39): Show AATATCTATAATCTATAATATATAATATCTATAATATATTATATATT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	172	0.0058	46	c.242 others(63): Show c.242-3833_242-3832insAATATATAATATATTATAGATATTATAT ATTATAGATTATAGATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTP5_chr2_241864729_241878823	241877949	T T	TGCTCCCC others(39): Show TGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00733.hp1 others(33): Show HG00140.hp1 HG00639.hp1 HG00733.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01243.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG02129.hp1 HG02257.hp1 HG02486.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03516.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18969.hp2 NA18990.hp2 NA19009.hp2 NA19056.hp2 NA19077.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0009 a0016 others(3): Show a0001 a0009 a0016 a0018 a0020 a0021	a0001c0001 a0009c0009 a0016c0028 others(3): Show a0001c0001 a0009c0009 a0016c0028 a0018c0022 a0020c0019 a0021c0021	a0001c0001t0002 a0001c0001t0004 a0001c0001t0034 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0034 a0009c0009t0004 a0016c0028t0001 a0018c0022t0004 a0020c0019t0004 a0021c0021t0004	a0001c0001t0002g0004 a0001c0001t0004g0004 a0001c0001t0004g0006 others(9): Show a0001c0001t0002g0004 a0001c0001t0004g0004 a0001c0001t0004g0006 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0034g0004 a0009c0009t0004g0004 a0016c0028t0001g0003 a0018c0022t0004g0035 a0020c0019t0004g0006 a0021c0021t0004g0004	36	365	0.0986	46	c.46 others(57): Show c.4675_*4676insGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCC ATCCCTCTCCTC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4127		chr2	TogoVar
RUFY1_chr5_179545554_179615012	179550536	C C	CCGCCCGC others(39): Show CCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	376	0.0027	46	c.-34 others(53): Show c.-34_-33insCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCC CCACCCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		17		chr5	TogoVar
RUNDC3B_chr7_87623398_87837296	87626387	T T	TATATGTG others(39): Show TATATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	202	0.0050	46	c.-24 others(57): Show c.-2437_-2436insATATGTGTCATATATATGTGTCATATATGTGTCA TATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2010		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626400	T T	TATATGTG others(39): Show TATATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	202	0.0050	46	c.-24 others(57): Show c.-2424_-2423insATATGTGTCATATATATGTGTCATATATGTGTCA TATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1997		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626487	T T	TATATGTG others(39): Show TATATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0077 a0001c0001t0034g0077	1	202	0.0050	46	c.-23 others(57): Show c.-2337_-2336insATATGTGTCATATATATGTGTCATATATGTGTCA TATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1910		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626698	G G	GTCATATA others(39): Show GTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0003 a0001c0001t0024g0003	1	202	0.0050	46	c.-21 others(57): Show c.-2126_-2125insTCATATATATGTGTCATATATATGTCATATATAT GTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1699		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626711	G G	GTCATATA others(39): Show GTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0002 a0001c0001t0037g0002	1	202	0.0050	46	c.-21 others(57): Show c.-2113_-2112insTCATATATATGTGTCATATATATGTCATATATAT GTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1686		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87652621	G G	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0031	1	202	0.0050	46	c.238 others(63): Show c.238+1709_238+1710insTATATATATATATATATATATATATATA TATATATATATATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX2_chr6_45323330_45556082	45376870	T T	TACATATA others(39): Show TACATATACTTATATACACACATATGTATATACATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	178	0.0056	46	c.59- others(63): Show c.59-45718_59-45673dupATACTTATATACACACATATGTATATAC ATATATATACACACACAT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RYR2_chr1_237037184_237838988	237473442	T T	TTTCTTTC others(39): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp2 HG01928.hp1 others(2): Show HG01081.hp2 HG01169.hp2 HG01928.hp1 HG03704.hp1 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0002c0009 a0001c0003 a0001c0007 a0002c0009	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(2): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0007t0024 a0002c0009t0002	a0001c0003t0001g0063 a0001c0003t0002g0087 a0001c0003t0003g0046 others(2): Show a0001c0003t0001g0063 a0001c0003t0002g0087 a0001c0003t0003g0046 a0001c0007t0024g0048 a0002c0009t0002g0079	5	100	0.0500	46	c.170 others(65): Show c.1708+4275_1708+4276insTTCTTTCTTTCTTTCTTTCTTTCTTC TTCTTTCTTTCTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100A13_chr1_153613799_153632505	153619906	G G	GATCTACC others(39): Show GATCTACCTCTTCCCCCCTCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	374	0.0027	46	c.154 others(61): Show c.154-869_154-868insGGGGGGGGGGGGGGGGGGGGGGGGGGGGAG GGGGGAAGAGGTAGAT	S100A13	ENSG00000189171.15	transcript	ENST00000476133.6	protein_coding	2/2			chr1	TogoVar
S100A14_chr1_153609255_153621325	153619906	G G	GATCTACC others(39): Show GATCTACCTCTTCCCCCCTCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	394	0.0025	46	c.-36 others(57): Show c.-3691_-3690insGGGGGGGGGGGGGGGGGGGGGGGGGGGGAGGGGG GAAGAGGTAGAT	S100A14	ENSG00000189334.9	transcript	ENST00000344616.4	protein_coding		3582		chr1	TogoVar
SAP25_chr7_100567228_100578900	100574632	G G	GCGCGCGC others(39): Show GCGCGCGCGCGCGCGCGCGCACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	386	0.0026	46	c.-89 others(55): Show c.-891_-890insTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCG CGCGCGCGCG	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		733		chr7	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	360	0.0028	46	c.995 others(61): Show c.995-649_995-648insAAAAAAAAAAAAAATATATATATATATATA TATATATATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0233 a0002c0003t0002g0233	1	360	0.0028	46	c.995 others(61): Show c.995-649_995-648insAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(39): Show GTGCGCACGCACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0236 a0002c0002t0009g0236	1	322	0.0031	46	c.157 others(65): Show c.157-21366_157-21365insTGCGCACGCACACACACACACACACA CACACACACACACACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148387612	C C	CTTTCTTT others(39): Show CTTTCTTTCTTCTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0314 a0001c0003t0005g0314	1	322	0.0031	46	c.157 others(63): Show c.157-2512_157-2511insCTCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTTTCTTTCTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148443435	A A	ATATATAT others(39): Show ATATATATATAATATATATATTATATATAATACACATTATATATTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0088 a0006c0012t0002g0088	1	322	0.0031	46	c.386 others(63): Show c.386+3061_386+3062insCATTATATATTTTTATATATATAATATA TATATTATATATAATACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148443435	A A	ATATATAT others(39): Show ATATATATATAATATATATATTATATATAATACATATTACATATTTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0002 a0001c0034t0002	a0001c0034t0002g0018 a0001c0034t0002g0018	1	322	0.0031	46	c.386 others(63): Show c.386+3066_386+3067insCATATTTTTATATATATAATATATATAT TATATATAATACATATTA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148443435	A A	ATATATAT others(39): Show ATATATATATAATATATATATTATATATAATACATATTATATATTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(141): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18943.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18966.hp2 NA18970.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18990.hp1 NA18993.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19064.hp2 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012	a0001c0001 a0001c0003 a0001c0007 others(19): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0023 a0001c0024 a0001c0028 a0001c0029 a0002c0002 a0002c0004 a0002c0005 a0002c0010 a0002c0031 a0003c0006 a0003c0011 a0004c0008 a0005c0026 a0006c0012 a0007c0038 a0008c0030 a0011c0022 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0032 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0007 a0001c0003t0012 a0001c0003t0014 a0001c0003t0018 a0001c0003t0026 a0001c0007t0002 a0001c0007t0004 a0001c0007t0005 a0001c0007t0006 a0001c0007t0022 a0001c0009t0002 a0001c0009t0004 a0001c0009t0010 a0001c0009t0014 a0001c0023t0007 a0001c0024t0010 a0001c0028t0001 a0001c0029t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0004t0008 a0002c0004t0011 a0002c0004t0024 a0002c0005t0002 a0002c0005t0006 a0002c0005t0035 a0002c0010t0003 a0002c0031t0004 a0003c0006t0001 a0003c0011t0001 a0004c0008t0003 a0005c0026t0001 a0006c0012t0002 a0007c0038t0016 a0008c0030t0001 a0011c0022t0002 a0012c0021t0005	a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0038 others(141): Show a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0002g0001 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0128 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0172 a0001c0001t0002g0180 a0001c0001t0002g0205 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0251 a0001c0001t0002g0264 a0001c0001t0004g0117 a0001c0001t0005g0133 a0001c0001t0005g0240 a0001c0001t0006g0181 a0001c0001t0007g0310 a0001c0001t0009g0010 a0001c0001t0009g0173 a0001c0001t0010g0006 a0001c0001t0010g0260 a0001c0001t0011g0321 a0001c0001t0013g0131 a0001c0001t0013g0182 a0001c0001t0014g0249 a0001c0001t0017g0248 a0001c0001t0032g0252 a0001c0003t0001g0054 a0001c0003t0001g0135 a0001c0003t0002g0204 a0001c0003t0002g0241 a0001c0003t0005g0097 a0001c0003t0005g0122 a0001c0003t0005g0266 a0001c0003t0005g0272 a0001c0003t0005g0274 a0001c0003t0005g0314 a0001c0003t0005g0318 a0001c0003t0007g0270 a0001c0003t0007g0273 a0001c0003t0007g0285 a0001c0003t0012g0280 a0001c0003t0014g0087 a0001c0003t0014g0139 a0001c0003t0018g0121 a0001c0003t0026g0286 a0001c0007t0002g0220 a0001c0007t0004g0217 a0001c0007t0005g0276 a0001c0007t0006g0232 a0001c0007t0022g0230 a0001c0009t0002g0123 a0001c0009t0004g0227 a0001c0009t0010g0206 a0001c0009t0014g0091 a0001c0023t0007g0278 a0001c0024t0010g0114 a0001c0028t0001g0043 a0001c0029t0002g0024 a0002c0002t0001g0032 a0002c0002t0001g0037 a0002c0002t0001g0045 a0002c0002t0001g0187 a0002c0002t0001g0210 a0002c0002t0001g0216 a0002c0002t0001g0223 a0002c0002t0001g0254 a0002c0002t0001g0262 a0002c0002t0001g0298 a0002c0002t0001g0305 a0002c0002t0002g0012 a0002c0002t0002g0039 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0253 a0002c0002t0003g0017 a0002c0002t0003g0034 a0002c0002t0003g0036 a0002c0002t0003g0051 a0002c0002t0003g0103 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0125 a0002c0002t0003g0288 a0002c0002t0003g0299 a0002c0002t0003g0319 a0002c0002t0003g0320 a0002c0002t0004g0009 a0002c0002t0004g0031 a0002c0002t0004g0035 a0002c0002t0004g0102 a0002c0002t0004g0130 a0002c0002t0004g0158 a0002c0002t0004g0189 a0002c0002t0004g0226 a0002c0002t0005g0033 a0002c0002t0006g0132 a0002c0002t0007g0250 a0002c0002t0008g0154 a0002c0004t0002g0134 a0002c0004t0004g0229 a0002c0004t0005g0271 a0002c0004t0008g0093 a0002c0004t0011g0095 a0002c0004t0011g0277 a0002c0004t0011g0279 a0002c0004t0024g0184 a0002c0005t0002g0111 a0002c0005t0006g0015 a0002c0005t0006g0016 a0002c0005t0006g0105 a0002c0005t0035g0148 a0002c0010t0003g0049 a0002c0010t0003g0261 a0002c0031t0004g0287 a0003c0006t0001g0056 a0003c0006t0001g0057 a0003c0006t0001g0060 a0003c0006t0001g0072 a0003c0011t0001g0059 a0004c0008t0003g0068 a0005c0026t0001g0263 a0006c0012t0002g0283 a0007c0038t0016g0265 a0008c0030t0001g0228 a0011c0022t0002g0025 a0012c0021t0005g0090	144	322	0.4472	46	c.386 others(63): Show c.386+3038_386+3083dupAATATATATATTATATATAATACATATT ATATATTTTTATATATAT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148443473	A A	ATATATTT others(39): Show ATATATTTTTATATATATTAATATATATATTATATTATAATACATAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0026 a0005c0016t0001g0026	1	322	0.0031	46	c.386 others(63): Show c.386+3084_386+3085insAATATATATATTATATTATAATACATAT TATATTTTTATATATATT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAT1_chrX_23778173_23791210	23780467	A A	AATATATA others(39): Show AATATATATATATATATATATATAATATATATATATTATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	330	0.0030	46	c.-28 others(57): Show c.-2885_-2884insATATATATATATATATATATATAATATATATATA TTATATATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2705		chrX	TogoVar
SBF2_chr11_9773668_10299219	9989055	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0165 a0001c0003t0001g0165	1	224	0.0045	46	c.139 others(63): Show c.1395+441_1395+442insGTATATATATATATATATATATATATAT ATATATATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0214 a0001c0001t0004g0214	1	224	0.0045	46	c.56- others(61): Show c.56-2880_56-2879insAAAAAAAAAAAAAATATATATATATATATA TATATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(39): Show CTATATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA18982.hp1 NA18983.hp1 others(2): Show HG00408.hp2 NA18982.hp1 NA18983.hp1 NA18995.hp2 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0006 a0001c0003t0001g0010 a0001c0003t0001g0087 others(1): Show a0001c0003t0001g0006 a0001c0003t0001g0010 a0001c0003t0001g0087 a0002c0001t0001g0001	5	450	0.0111	46	c.31 others(57): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA TATATATATATA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	1	450	0.0022	46	c.31 others(57): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA GAGAGAGAGAGA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067589	C C	CTATATAT others(39): Show CTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0142 a0001c0001t0008g0142	1	414	0.0024	46	c.678 others(61): Show c.678-132_678-131insTATATATATATATATATATATATATATATA TATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(39): Show TACACACACACACATATACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01934.hp2 NA18992.hp2 HG00642.hp2 HG01934.hp2 NA18992.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0006 a0003c0004t0002g0011 a0003c0004t0002g0036 a0003c0004t0002g0006 a0003c0004t0002g0011 a0003c0004t0002g0036	3	382	0.0079	46	c.15 others(57): Show c.1585_*1586insACACACACACACATATACACACACACACACACAC ACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(39): Show TACACACACACACATATATACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0006 a0003c0004t0002g0006	1	382	0.0026	46	c.15 others(57): Show c.1585_*1586insACACACACACACATATATACACACACACACACAC ACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAMP2_chr15_74838730_74878365	74873426	G G	GCCCCCCC others(39): Show GCCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	386	0.0026	46	c.-17 others(55): Show c.-172_-171insGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGG GGGGGGGGGG	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		62		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTCTCTTT others(39): Show CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	370	0.0027	46	c.-47 others(57): Show c.-4728_-4727insTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	370	0.0027	46	c.-47 others(57): Show c.-4728_-4727insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGGTGAGA others(39): Show GGGTGAGAGGGGGCGGGGGAGGGGGGGTGAGAGGGGGCGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	304	0.0033	46	c.244 others(61): Show c.2448-69_2448-68insTTCTCCCCCGCCCCCTCTCACCCCCCCTCC CCCGCCCCCTCTCACC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGTGAGAG others(39): Show GGTGAGAGGGGGGCGGGGGAGGGGGGGTGAGAGGGGGCGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02738.hp2 HG02027.hp1 HG02738.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0014 a0002c0002 a0009c0014	a0002c0002t0001 a0009c0014t0001 a0002c0002t0001 a0009c0014t0001	a0002c0002t0001g0068 a0009c0014t0001g0128 a0002c0002t0001g0068 a0009c0014t0001g0128	2	304	0.0066	46	c.244 others(61): Show c.2448-69_2448-68insTTCTCCCCCGCCCCCTCTCACCCCCCCTCC CCCGCCCCCCTCTCAC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCD5_chr4_82624539_82803796	82626113	G G	GGAAAGAA others(39): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAAAGAAAGAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0016 a0001c0001t0027g0016	1	210	0.0048	46	c.52 others(57): Show c.5213_*5214insTTTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding		3425		chr4	TogoVar
SCD5_chr4_82624539_82803796	82626113	G G	GGAAAGAA others(39): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01243.hp1 HG02280.hp1 others(7): Show HG01167.hp2 HG01243.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0017 a0001c0001t0028 others(2): Show a0001c0001t0005 a0001c0001t0017 a0001c0001t0028 a0001c0001t0032 a0001c0002t0029	a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 others(7): Show a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0071 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0017g0006 a0001c0001t0028g0058 a0001c0001t0032g0194 a0001c0002t0029g0207	10	210	0.0476	46	c.52 others(57): Show c.5213_*5214insTTTTTCTTTCTTTCTCTCTCTCTTTCTTTCTTTC TTTCTTTCTTTC	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding		3425		chr4	TogoVar

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