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
RTP5_chr2_241864729_241878823	241878713	C C	CCTGAGCT others(208): Show CCTGAGCTCTCATCTGAGGCTGCACCTGAGCCCACACCTGAGCCCTCATC TGAGGTTGCACCTGAGCCCTCCCCTGAGCTCTCGTCTGAGGCTGCACCTG AGCCCACACCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTGAG CTCTCGTCTGAGGCTACACCTGAGCCCACACCTGAGCTCTCGTCTGAGGC TGCACCTGAGCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0002 a0002c0002t0015g0002	1	365	0.0027	215	c.54 others(226): Show c.5439_*5440insCTGAGCTCTCATCTGAGGCTGCACCTGAGCCCAC ACCTGAGCCCTCATCTGAGGTTGCACCTGAGCCCTCCCCTGAGCTCTCGT CTGAGGCTGCACCTGAGCCCACACCTGAGCTCTCGTCTGAGGCTGCACCT GAGCCCACACCTGAGCTCTCGTCTGAGGCTACACCTGAGCCCACACCTGA GCTCTCGTCTGAGGCTGCACCTGAGCCCACA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4891		chr2	TogoVar
SART1_chr11_65956734_65985137	65971210	T T	TGAGGAGG others(208): Show TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0086 a0002c0001t0001g0086	1	384	0.0026	215	c.157 others(234): Show c.1572+3390_1572+3391insAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971327	G G	GAAGCTGA others(208): Show GAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGT GGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATTCAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0141 a0001c0006t0001g0141	1	384	0.0026	215	c.157 others(234): Show c.1572+3506_1572+3507insAAGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277914	C C	CCCTCTCC others(208): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	390	0.0026	215	c.49 others(226): Show c.4919_*4920insCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4755		chr11	TogoVar
SDK1_chr7_3296252_4274000	3449357	C C	CTTGATGC others(208): Show CTTGATGCAGTGTGATCATCTGCAGAGGCCTCAGTGCAAGGCAGCTCCCT TCCCCGTGTCCAAGTCCCCTGACCCTCTCTCTTCCCTCCATTTCCTCAGA ATGTACCCTTTAATTCACAAACAAAAACGCAGCTATTCGCATTCTTCCCT GGCCTACTCTGCCCTACCTCAAACTTGCCTGTGCCTTAAATCCTAAAACG TTCCTTCCTCTCTCCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0005 a0005	a0005c0056 a0005c0056	a0005c0056t0055 a0005c0056t0055	a0005c0056t0055g0021 a0005c0056t0055g0021	1	116	0.0086	215	c.298 others(236): Show c.298+147473_298+147474insTTGATGCAGTGTGATCATCTGCAG AGGCCTCAGTGCAAGGCAGCTCCCTTCCCCGTGTCCAAGTCCCCTGACCC TCTCTCTTCCCTCCATTTCCTCAGAATGTACCCTTTAATTCACAAACAAA AACGCAGCTATTCGCATTCTTCCCTGGCCTACTCTGCCCTACCTCAAACT TGCCTGTGCCTTAAATCCTAAAACGTTCCTTCCTCTCTCCA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44			chr7	TogoVar
SGTA_chr19_2749715_2788273	2761872	C C	CCCGTGTT others(208): Show CCCGTGTTTATTCCCCGCACAGCGCGACCGCCCGGGGACGGCACAGTCTA TCATCCCGTGTTTATTCCCCGCACACCGCGACCGCCCGGGGACGGCACAG TCTATCATCCCGTGTTTATTCCCCGCACAGCGCGACCGCCCGGGGACGGC ACAGTCTATCATCCCGTGTTTATTCCCCGCACACCGCGACCGCCCGGGGA CGGCACAGTCTATCAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0128 a0001c0003t0020g0128	1	396	0.0025	215	c.637 others(230): Show c.637-351_637-350insATGATAGACTGTGCCGTCCCCGGGCGGTCG CGGTGTGCGGGGAATAAACACGGGATGATAGACTGTGCCGTCCCCGGGCG GTCGCGCTGTGCGGGGAATAAACACGGGATGATAGACTGTGCCGTCCCCG GGCGGTCGCGGTGTGCGGGGAATAAACACGGGATGATAGACTGTGCCGTC CCCGGGCGGTCGCGCTGTGCGGGGAATAAACACGG	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	7/11			chr19	TogoVar
SH3D19_chr4_151115281_151330605	151256013	G G	GGGGAGAG others(208): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0244 a0002c0008t0001g0244	1	282	0.0036	215	c.113 others(234): Show c.113-29928_113-29927insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(208): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGCA TGAAAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0004 a0009c0020t0004	a0009c0020t0004g0243 a0009c0020t0004g0243	1	256	0.0039	215	c.165 others(232): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGCATGAAAAAAGAAAAGAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SKI_chr1_2223319_2315213	2280735	G G	GGACGCCC others(208): Show GGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGAGAGATGC CCGAGAAGACAGGCGGTGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAG GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGC GGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCG GAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	330	0.0030	215	c.970 others(234): Show c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG GCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGCGATC TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAG AGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC GCCTGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2280755	C C	CGGCGGCG others(208): Show CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATC TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAG AGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC GCCTGAGAAGACAGGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0055 a0002c0002t0055	a0002c0002t0055g0183 a0002c0002t0055g0183	1	330	0.0030	215	c.970 others(234): Show c.970-22221_970-22220insCGGCGGCGATCTTCAGAGAGCGGACG CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGA GGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG CGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGT GGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280902	G G	GAGAGCGG others(208): Show GAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCATAGAGAG GATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCC GAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGA CAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGG TGGCGGAGATCTTCAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	330	0.0030	215	c.970 others(234): Show c.970-22072_970-22071insCGGACGCCCGAGAGGACAGGCGGCGG CGGAGATCTTCATAGAGAGGATGCCCGAGAAGACAGGCGGCGGCGGCGAT CTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGA GAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGA CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281812	A A	AGGACGCC others(208): Show AGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGAGGATGC CCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAA GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGC GGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCG GTGATCTTCAGAGAGC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	330	0.0030	215	c.970 others(234): Show c.970-21154_970-21153insAGACATGCGGCGGCGGCGATCTTCAG AGAGAGGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGG AAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCG AGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGAC AGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC2A5_chr1_9030106_9074635	9053317	A A	ATATATTT others(208): Show ATATATTTATATATATTATATATTTATATACTATATATATTTATATATAT TATATATTTATATATTATATATATTTATATATTATATATTTATATATTAT ATATATTTATATATTATATATTTATATATTATATATATTTATATATATTA TATATTTATATATTATATATATTTATATATATTATATATATTATATATTT ATATATTATATATATT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0185 a0001c0001t0026g0185	1	336	0.0030	215	c.293 others(232): Show c.293+4130_293+4131insAATATATATAATATATAAATATATAATA TATATAATATATATAAATATATATAATATATAAATATATAATATATATAA ATATATATAATATATAAATATATAATATATAAATATATATAATATATAAA TATATAATATATAAATATATATAATATATAAATATATAATATATATAAAT ATATATAGTATATAAATATATAATATATATAAATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC2A5_chr1_9030106_9074635	9053368	T T	TTATATAT others(208): Show TTATATATTATATATATTTATATATATTATATATTTATATATTATATATA TTTATATATAATATATATTATATATTTATATATTATATATATTTATATAT ATTATATATTTATATATTATATATATTTATATATATTATATATTTATATA TTATATATATTTATATATATTATATATATTTATATATATTATATATTTAT ATATTATATATATTTA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	336	0.0030	215	c.293 others(232): Show c.293+4079_293+4080insTAAATATATATAATATATAAATATATAA TATATATAAATATATATAATATATATAAATATATATAATATATAAATATA TAATATATATAAATATATATAATATATAAATATATAATATATATAAATAT ATATAATATATAAATATATAATATATATTATATATAAATATATATAATAT ATAAATATATAATATATATAAATATATATAATATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC38A10_chr17_81239811_81300307	81249323	G G	GAGGAGGA others(208): Show GAGGAGGAGGGAGGGAAGAGGAGCAGGAGGGAGGGAAGAGGAGGATGAAG GAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGAAGGAAGGAGGGAAG AGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAG GAGCAGGAGGGAGGGAAGAGGAGGATGAAGGAGGGAGGGAAGAGGAGGGA GAAGGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0023 a0023	a0023c0041 a0023c0041	a0023c0041t0001 a0023c0041t0001	a0023c0041t0001g0021 a0023c0041t0001g0021	1	214	0.0047	215	c.206 others(234): Show c.2065+2169_2065+2170insTCTCCCTCCCTCCTTCTCCCTCCTCT TCCCTCCCTCCTTCATCCTCCTCTTCCCTCCCTCCTGCTCCTCTTCCCTC CCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCT TCCTTCTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCATCCTC CTCTTCCCTCCCTCCTGCTCCTCTTCCCTCCCTCCTCCT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SLC45A4_chr8_141202174_141313288	141203252	A A	AGAGAGAG others(208): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGGGAGACCGTGGAGA GAGAGAGAGAGAGAGAGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGAGG GAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGGGAGGG AGAGGGAGAGGGAGACCGTGGAGAGAGAGAGAGAGAGAGAGACCGTGGAG AGAGAGAGAGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0091 a0001c0004t0006g0091	1	188	0.0053	215	c.83 others(226): Show c.8319_*8320insCCTCCTCTCTCTCTCTCTCCACGGTCTCTCTCTC TCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCCCTCCCTCTCTCTCTCT CTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCC TCTCCCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCCACGGTCTCCCTCT CCCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3921		chr8	TogoVar
SLCO3A1_chr15_91848708_92170903	92047039	T T	TAAATATA others(208): Show TAAATATATATATATAATATATAAATATATATATATAAATATATATATAA TATATAAATATATATATATAAATATATATAATATATAAATATATATATAA ATATATAATATATAAATATATATACAAATATATATATAATATATAAATAT ATACAAATATATATATAATATATAAATATATATACAAATATATATATAAT ATATAAATATATATAC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	190	0.0053	215	c.647 others(234): Show c.647-47829_647-47828insTAATATATAAATATATATATATAAAT ATATATATAATATATAAATATATATATATAAATATATATAATATATAAAT ATATATATAAATATATAATATATAAATATATATACAAATATATATATAAT ATATAAATATATACAAATATATATATAATATATAAATATATATACAAATA TATATATAATATATAAATATATATACAAATATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92047072	A A	AATATATA others(208): Show AATATATATATAATATATAAATATATATATATAAATATATATAATATATA AATATATATATATAAATATATAATATATAAATATATATACAAATATATAT ATAATATATAAATATATACAAATATATATATAATATATAAATATATATAC AAATATATATATAATATATAAATATATATACAAATATATATATAATATAT AAATATATATACAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0188 a0001c0002t0001g0188	1	190	0.0053	215	c.647 others(234): Show c.647-47800_647-47799insTAATATATAAATATATATATATAAAT ATATATAATATATAAATATATATATATAAATATATAATATATAAATATAT ATACAAATATATATATAATATATAAATATATACAAATATATATATAATAT ATAAATATATATACAAATATATATATAATATATAAATATATATACAAATA TATATATAATATATAAATATATATACAAATATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(208): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 NA20129.hp2 HG02723.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0098 a0001c0001t0001g0064 a0001c0001t0001g0098	2	380	0.0053	215	c.17 others(226): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SORCS2_chr4_7187538_7747827	7724921	G G	GGTGATGG others(208): Show GGTGATGGTGGTGATGGTGGTGGTGATGGCAGTGATGATGGTGGAGGTGA TGGTGGTAGTGGTGATGATGGTAGTAGTGGTGATGGTGGTGATGGTGGTG GTGATGGCAGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGAGGAT GGTGATGGTGGTGATGGTGGTGGTGATGGCAGTGATGATGGTGGAGGTGA TGGTGGTAGTTATGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00642.hp2 others(26): Show HG00099.hp2 HG00438.hp1 HG00642.hp2 HG00733.hp1 HG01346.hp1 HG01346.hp2 HG02015.hp1 HG02056.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03688.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 NA18906.hp1 NA18962.hp2 NA19000.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0007 a0010 a0014	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0001c0014 a0001c0016 a0001c0026 a0001c0033 a0001c0041 a0001c0053 a0002c0004 a0003c0042 a0006c0008 a0007c0027 a0010c0024 a0014c0055	a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 others(25): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0072 a0001c0002t0002 a0001c0003t0002 a0001c0003t0009 a0001c0003t0010 a0001c0003t0064 a0001c0005t0001 a0001c0005t0014 a0001c0009t0001 a0001c0009t0029 a0001c0010t0076 a0001c0014t0019 a0001c0016t0013 a0001c0026t0062 a0001c0033t0009 a0001c0041t0013 a0001c0053t0001 a0002c0004t0002 a0003c0042t0003 a0006c0008t0001 a0006c0008t0013 a0007c0027t0002 a0010c0024t0049 a0014c0055t0048	a0001c0001t0006g0111 a0001c0001t0009g0085 a0001c0001t0010g0129 others(26): Show a0001c0001t0006g0111 a0001c0001t0009g0085 a0001c0001t0010g0129 a0001c0001t0017g0003 a0001c0001t0072g0161 a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0003t0002g0073 a0001c0003t0009g0086 a0001c0003t0010g0001 a0001c0003t0064g0005 a0001c0005t0001g0156 a0001c0005t0014g0102 a0001c0009t0001g0151 a0001c0009t0029g0038 a0001c0010t0076g0163 a0001c0014t0019g0139 a0001c0016t0013g0039 a0001c0026t0062g0049 a0001c0033t0009g0093 a0001c0041t0013g0031 a0001c0053t0001g0044 a0002c0004t0002g0013 a0003c0042t0003g0066 a0006c0008t0001g0029 a0006c0008t0013g0155 a0007c0027t0002g0116 a0010c0024t0049g0108 a0014c0055t0048g0150	29	168	0.1726	215	c.261 others(232): Show c.2612-232_2612-231insTGATGGTGGTGATGGTGGTGGTGATGGC AGTGATGATGGTGGAGGTGATGGTGGTAGTGGTGATGATGGTAGTAGTGG TGATGGTGGTGATGGTGGTGGTGATGGCAGTGATGATGGTGGAGGTGATG GTGGTAGTTATGGTGAGGATGGTGATGGTGGTGATGGTGGTGGTGATGGC AGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SP100_chr2_230411201_230550606	230499510	A A	ATATATAT others(208): Show ATATATATAGATAGATATATATTTTATATATATATTTATATAAATATATA TATCTAGATATATATCTATCTATATATATTTATATATATAAATATATATA TTTTTTTTATATATATAAAATATATATATTTATATATATATTTTATATAT ATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATTCCCCCA CTAGAATGGCAGAAGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0096 a0001c0001t0006g0096	1	290	0.0035	215	c.172 others(232): Show c.1720+975_1720+976insTATATATAGATAGATATATATTTTATAT ATATATTTATATAAATATATATATCTAGATATATATCTATCTATATATAT TTATATATATAAATATATATATTTTTTTTATATATATAAAATATATATAT TTATATATATATTTTATATATATAGATATATATATCTATATATTTATTTC CTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGC	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28			chr2	TogoVar
SP100_chr2_230411201_230550606	230499510	A A	ATATATAT others(208): Show ATATATATAGATAGATATATATTTTATATATATATTTATATAAATATATA TATCTAGATATATATCTATCTATATATATTTATATATATAAATATATATA TTTTTTTTTTATATATAAAATATATATATTTATATATATATTTTATATAT ATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATTCCCCCA CTAGAATGGCAGAAGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp2 HG02897.hp2 others(2): Show HG02145.hp2 HG02647.hp2 HG02897.hp2 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0006 a0001c0001t0006 a0001c0003t0006	a0001c0001t0006g0087 a0001c0001t0006g0089 a0001c0001t0006g0123 others(2): Show a0001c0001t0006g0087 a0001c0001t0006g0089 a0001c0001t0006g0123 a0001c0001t0006g0251 a0001c0003t0006g0090	5	290	0.0172	215	c.172 others(232): Show c.1720+975_1720+976insTATATATAGATAGATATATATTTTATAT ATATATTTATATAAATATATATATCTAGATATATATCTATCTATATATAT TTATATATATAAATATATATATTTTTTTTTTATATATAAAATATATATAT TTATATATATATTTTATATATATAGATATATATATCTATATATTTATTTC CTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGC	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28			chr2	TogoVar
SP100_chr2_230411201_230550606	230499510	A A	ATATATAT others(208): Show ATATATATAGATAGATATATATTTTTATATATATATTTATATAAATATAT ATATCTAGATATATATCTATCTATATATATTTATATATATAAATATATAT ATTTTTTTTTATATATAAAATATATATATTTATATATATATTTTATATAT ATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATTCCCCCA CTAGAATGGCAGAAGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp1 HG02970.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0092 a0001c0001t0006g0126 a0001c0001t0006g0092 a0001c0001t0006g0126	2	290	0.0069	215	c.172 others(232): Show c.1720+975_1720+976insTATATATAGATAGATATATATTTTTATA TATATATTTATATAAATATATATATCTAGATATATATCTATCTATATATA TTTATATATATAAATATATATATTTTTTTTTATATATAAAATATATATAT TTATATATATATTTTATATATATAGATATATATATCTATATATTTATTTC CTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGC	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28			chr2	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCTTCCCT others(208): Show CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCCTTCCCTTC CCCCTTCCCCTTCCCTCTCCCCCTCCTCCCTCTCCCTCCCCCCTCCCCGC TTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	215	c.54 others(226): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGGAGGGGGGAGGGA GAGGGAGGAGGGGGAGAGGGAAGGGGAAGGGGGAAGGGAAGGGGGGAGGG TGGTGGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SS18L1_chr20_62138769_62187514	62160289	G G	GGGTGGGG others(208): Show GGGTGGGGAGAGGTGGGATGGGGAGAGGTGGGGTGGGGAGAGGTGGGGTG GGGTGGGGAGAGGTGGAGAGAGGTGGGGTGGGGAGAGGTGGAGAGAGGTG GGGTGGGGAGAGGTGGAGAGAGGTGGGATGGGGAGAGGTGGGATGGGGAG AGGTGGGGAGAGGTGGGGTGGGGAGAGGTGGGATGGGGAGAGGTGGGGAG AGGTGGGATGGGGAGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	316	0.0032	215	c.231 others(230): Show c.231+344_231+345insATGGGGAGAGGTGGGGTGGGGAGAGGTGGG GTGGGGTGGGGAGAGGTGGAGAGAGGTGGGGTGGGGAGAGGTGGAGAGAG GTGGGGTGGGGAGAGGTGGAGAGAGGTGGGATGGGGAGAGGTGGGATGGG GAGAGGTGGGGAGAGGTGGGGTGGGGAGAGGTGGGATGGGGAGAGGTGGG GAGAGGTGGGATGGGGAGAGGTGGGGAGAGGTGGG	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
ST18_chr8_52105838_52414756	52260456	T T	TGAAATCT others(208): Show TGAAATCTGGCTGAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCTGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02145.hp1 others(18): Show HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp1 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0007 a0001c0001 a0002c0003 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0002c0003t0003 a0005c0007t0007	a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0039 others(18): Show a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0003g0021 a0001c0001t0003g0072 a0001c0001t0007g0008 a0001c0001t0007g0084 a0001c0001t0009g0043 a0001c0001t0010g0041 a0001c0001t0010g0067 a0001c0001t0011g0040 a0001c0001t0014g0079 a0001c0001t0015g0068 a0001c0001t0016g0083 a0001c0001t0017g0100 a0001c0001t0018g0037 a0001c0001t0019g0057 a0002c0003t0003g0022 a0002c0003t0003g0038 a0002c0003t0003g0102 a0005c0007t0007g0098	21	104	0.2019	215	c.-46 others(236): Show c.-464-30380_-464-30379insTTTCTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTCAGCCAGATTTC	ST18	ENSG00000147488.13	transcript	ENST00000689386.1	protein_coding	2/25			chr8	TogoVar
STARD7_chr2_96179859_96213827	96197072	A A	AAAATAAA others(208): Show AAAATAAAATAAAATAAAATAAATAACATAACATAACATAACATAACATA ACATAACATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAAAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0221 a0002c0002t0002g0221	1	358	0.0028	215	c.291 others(232): Show c.291-1524_291-1523insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTTTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATTTATTTTATTTTATTTTATTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(208): Show CCCTCCCCTCTCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTC TCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCCCCTC CCCTCTCCTCTCCTCCCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTC CCCTCCTCTCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	334	0.0030	215	c.10 others(228): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGG AGGAGAGGGGAGAGGAGGGGAGGAGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBCE_chr1_235362427_235457443	235412193	C C	CCCTTCCC others(208): Show CCCTTCCCCCTCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCC CCCTCCCCCCTCCCCCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCT CCCCCCTCCCCTCCCCCCTCCCCCCATCCCCTCCTCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG02280.hp1 others(1): Show HG01243.hp1 HG02145.hp1 HG02280.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0007 a0001c0012t0007 a0001c0001t0007 a0001c0012t0007	a0001c0001t0007g0045 a0001c0001t0007g0265 a0001c0001t0007g0266 others(1): Show a0001c0001t0007g0045 a0001c0001t0007g0265 a0001c0001t0007g0266 a0001c0012t0007g0264	4	268	0.0149	215	c.186 others(232): Show c.186-2238_186-2237insTTCCCCCTCCCCTCCCCTCCCCTCCCCA TCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCCCCCTCCCCCCTCCCC CTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCATCCCC TCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TERT_chr5_1248167_1300068	1273718	C C	CGCCATCC others(208): Show CGCCATCCACAGTCACCACACATCAGACCCCCACAACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0066 a0001c0004t0001g0066	1	392	0.0026	215	c.228 others(234): Show c.2287-1439_2287-1438insAGTCGTGGGGTCTGATGTGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATG GCGGTTGTGGGGGTCTGATGTGTGGTGACTGTGGATGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TEX29_chr13_111315642_111349248	111340562	C C	CATCATAA others(208): Show CATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04115.hp2 NA18952.hp1 others(8): Show HG03927.hp2 HG04115.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18969.hp2 NA18972.hp1 NA18980.hp2 NA18990.hp1 NA19066.hp1 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0012 a0001c0001 a0001c0002 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0003c0012t0001	a0001c0001t0001g0218 a0001c0001t0002g0005 a0001c0001t0002g0036 others(5): Show a0001c0001t0001g0218 a0001c0001t0002g0005 a0001c0001t0002g0036 a0001c0001t0002g0046 a0001c0001t0002g0149 a0001c0001t0002g0190 a0001c0002t0001g0011 a0003c0012t0001g0248	11	416	0.0264	215	c.239 others(230): Show c.239+716_239+930dupCATCATAACCCGTGTTTAGTGAGCACCTGT GCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTT GATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAA ATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAA CCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAA	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111340734	A A	AATCATAA others(208): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	416	0.0024	215	c.239 others(230): Show c.239+930_239+931insCATCATAACCCGTGTTTAGTGAGCACCTGT GCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTT GATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAA ATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAA CCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAA	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111340820	A A	AATCATAA others(208): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp1 HG01123.hp2 others(4): Show HG00140.hp2 HG01099.hp1 HG01123.hp2 HG01256.hp1 HG01258.hp2 HG01993.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0265 others(2): Show a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0265 a0001c0001t0002g0038 a0001c0001t0002g0039	7	416	0.0168	215	c.239 others(230): Show c.239+930_239+931insCATCATAACCCGTGTTTAGTGAGCACCTGT GCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTT GATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAA ATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAA CCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAA	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111340869	A A	AACCCGTG others(208): Show AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGT GAGCACCTGTGCCTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAACATCATT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	416	0.0024	215	c.239 others(230): Show c.239+955_239+956insCCTGTGCTTGTTGATGAACATCATAACCCG TGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAG TGAGCACCTGTGCCTGTTGATGAACATCATAACCCGTGTTTAGTGAGCAC CTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCT TGTTGATGAACATCATTACCCGTGTTTAGTGAGCA	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111340949	A A	AATCATAA others(208): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	416	0.0024	215	c.239 others(232): Show c.239+1062_239+1063insCATAACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTG ATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACA TCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAAC CCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAAT	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111341477	T T	TGTTTAGT others(208): Show TGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAG TGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCAC CTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCG TTGATGAAAATCATAACCCGTGTTTAGTGAGCAACCTGTGCTTGTTGATG AAAATCATAACCCGTA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	416	0.0024	215	c.240 others(232): Show c.240-1131_240-1130insGTTGATGAAAATCATAACCCGTGTTTAG TGAGCAACCTGTGCTTGTTGATGAAAATCATAACCCGTAGTTTAGTGAGC ACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTG ATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGC	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
THEG_chr19_356747_381026	377075	T T	TCCCCCCC others(208): Show TCCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCCAC CCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGC CCCCACCCAGCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18984.hp1 NA18970.hp2 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0043 a0002c0002t0002g0042 a0001c0001t0002g0043 a0002c0002t0002g0042	2	370	0.0054	215	c.-11 others(226): Show c.-1106_-1105insGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGGAGA GGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGG GGGAGAGGCTGGGTGGGGGCACGGGGGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1050		chr19	TogoVar
THEG_chr19_356747_381026	377105	C C	CTCTGTGC others(208): Show CTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCA CCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	370	0.0027	215	c.-11 others(226): Show c.-1136_-1135insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGGGGGGGGAGAGGCTGGGTGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1080		chr19	TogoVar
THEG_chr19_356747_381026	377554	G G	GCCCCACC others(208): Show GCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGC CTCTCCCCCCCCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0132 a0001c0003t0008g0132	1	370	0.0027	215	c.-15 others(226): Show c.-1585_-1584insGCACGGGGGGGGAGAGGCTGGGTGGGGGCACGGG GGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGGCACAGGGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1529		chr19	TogoVar
THOP1_chr19_2780503_2820807	2811747	T T	TGGGGACA others(208): Show TGGGGACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACCGGGGAC AGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGACCGGGGACAGGGAGG GCGTCCTGAATGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCT GAACGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAACGGC AAGGTACGCGGGGACC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0174 a0001c0001t0033g0174	1	370	0.0027	215	c.190 others(230): Show c.1908+55_1908+56insCGGGGACAGGGAGGGCGTCCTGAATGGCAA GGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGC GGGGACTGGGGACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACT GGGGACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACCGGGGACA GGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGAC	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
THOP1_chr19_2780503_2820807	2811894	C C	CCTGAACG others(208): Show CCTGAACGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAAC GGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAATGGCAAGG TACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGG GGACCGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGACCGG GGACAGGGAGGGTGTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02523.hp2 HG00733.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0054 a0001c0001t0023g0183 a0001c0001t0002g0054 a0001c0001t0023g0183	2	370	0.0054	215	c.190 others(232): Show c.1908+162_1908+163insGAACGGCAAGGTACGCGGGGACCGGGGA CAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACTGGGGACAGGGAG GGCGTCCTGAATGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCC TGAACGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAATGG CAAGGTACGCGGGGACCGGGGACAGGGAGGGTGTTCT	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
THOP1_chr19_2780503_2820807	2811894	C C	CCTGAATG others(208): Show CCTGAATGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAAC GGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAATGGCAAGG TACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGG GGACCGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGACCGG GGACAGGGAGGGTGTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00558.hp1 others(88): Show HG00099.hp1 HG00423.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG01081.hp1 HG01123.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02895.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18990.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19009.hp2 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0004 a0008c0016 a0001c0001 a0005c0004 a0008c0016	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0005c0004t0002 a0005c0004t0012 a0008c0016t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0008 others(51): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0077 a0001c0001t0002g0101 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0007g0002 a0001c0001t0007g0004 a0001c0001t0007g0017 a0001c0001t0007g0205 a0001c0001t0012g0233 a0001c0001t0014g0020 a0001c0001t0015g0013 a0005c0004t0002g0002 a0005c0004t0002g0078 a0005c0004t0002g0223 a0005c0004t0012g0002 a0008c0016t0002g0192	91	370	0.2460	215	c.190 others(232): Show c.1908+162_1908+163insGAATGGCAAGGTACGCGGGGACCGGGGA CAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACTGGGGACAGGGAG GGCGTCCTGAATGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCC TGAACGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAATGG CAAGGTACGCGGGGACCGGGGACAGGGAGGGTGTTCT	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMEM44_chr3_194582678_194638419	194629858	C C	CGTACTGC others(208): Show CGTACTGCCTCCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGG GCCCCTGAAATAGTATGCTGTCGTACCTGCCTCCAGAAGGGGCTGGCTGT TTCCATCGGCGTCACTGATAGGGTCCCTGAAATAATACGCTGTCGTACCT GCCTCCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGCCCCT GAAATAATACGCTGTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01934.hp1 HG02559.hp1 others(10): Show HG01255.hp1 HG01934.hp1 HG02559.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0007 a0002c0003 others(2): Show a0001c0001 a0001c0007 a0002c0003 a0002c0023 a0009c0015	a0001c0001t0016 a0001c0007t0005 a0002c0003t0001 others(4): Show a0001c0001t0016 a0001c0007t0005 a0002c0003t0001 a0002c0003t0006 a0002c0003t0015 a0002c0023t0028 a0009c0015t0016	a0001c0001t0016g0015 a0001c0007t0005g0014 a0001c0007t0005g0016 others(10): Show a0001c0001t0016g0015 a0001c0007t0005g0014 a0001c0007t0005g0016 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0006g0068 a0002c0003t0015g0070 a0002c0003t0015g0071 a0002c0003t0015g0072 a0002c0023t0028g0069 a0009c0015t0016g0013	13	404	0.0322	215	c.138 others(232): Show c.138-1350_138-1349insAACAGCGTATTATTTCAGGGGCCCTATC AGTGACGCCGATGGAAACAGCCAGCCCCTTCGGGAGGCAGGTACGACAGC GTATTATTTCAGGGACCCTATCAGTGACGCCGATGGAAACAGCCAGCCCC TTCTGGAGGCAGGTACGACAGCATACTATTTCAGGGGCCCTATCAGTGAC GCCGATGGAAACAGCCAGCCCCTTCGGGAGGCAGTAC	TMEM44	ENSG00000145014.18	transcript	ENST00000347147.9	protein_coding	1/9			chr3	TogoVar
TMPRSS9_chr19_2355265_2431261	2377528	C C	CCCTCTCC others(208): Show CCCTCTCCCCTCTCCCTCCCTCCCCTCTCCCTCTCCCCCTCTCTTCTCTC CTCCCATCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCCTCCCCTCTC CTCTCTCCCCTCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCC CCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCTCCCCT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0058 a0004c0003t0003g0058	1	114	0.0088	215	c.-25 others(234): Show c.-25-12231_-25-12230insTCTCCCCTCTCCCTCCCTCCCCTCTC CCTCTCCCCCTCTCTTCTCTCCTCCCATCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCCCCCTCCCCTCTCCTCTCTCCCCTCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418285	T T	TCCTTTTC others(208): Show TCCTTTTCCTTCCCTCCCTCCTTCCCTCCTTGTCCTTCCCTCCCTCCTTC CCTCCTTGTCCTTCCCTCCCTCCTTCCCTCCTTTTCCTTCCCTCCCTCCT TCCCTCCTTTTCCTTCCCTCCCTCCTTCCCTCCTTTTCCTTCCCTCCCTC CTTCCCTCCTTTTCCTTCCCTCCTTTTCCTTTCCTCCTTTCCTTCCCTTT CTCTCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0011 a0011	a0011c0026 a0011c0026	a0011c0026t0002 a0011c0026t0002	a0011c0026t0002g0020 a0011c0026t0002g0020	1	114	0.0088	215	c.215 others(232): Show c.2154+147_2154+148insCCTTTTCCTTCCCTCCCTCCTTCCCTCC TTGTCCTTCCCTCCCTCCTTCCCTCCTTGTCCTTCCCTCCCTCCTTCCCT CCTTTTCCTTCCCTCCCTCCTTCCCTCCTTTTCCTTCCCTCCCTCCTTCC CTCCTTTTCCTTCCCTCCCTCCTTCCCTCCTTTTCCTTCCCTCCTTTTCC TTTCCTCCTTTCCTTCCCTTTCTCTCCTTCCCTTCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18			chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418534	C C	CCCTTTCC others(208): Show CCCTTTCCTTCCCTTCCCTCCCTACCTTTCCTTTCCTTCCCTCCCTCCCT TTCCTTCCCTCCCTCCCCTTCCCTCCCTACCTTTCCTTTCCTTCCCTCCC TCCCTTTCCTTCCCTGCCTTCCCTTCCTCCCTTTCCTTCCCTTCCTTCCC TCCCTCCCTTTCCTTCCCTCCCTCCCCTTCCCTCCCTACCTTTCCTTCCC TTCTCTCCCTCCCTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0059 a0002c0001t0001g0059	1	114	0.0088	215	c.215 others(232): Show c.2154+400_2154+401insTCCTTCCCTTCCCTCCCTACCTTTCCTT TCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCCTTCCCTCCCTACCTT TCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTGCCTTCCCTTCCTCCCTT TCCTTCCCTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCCTTCCCT CCCTACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930542	G G	GGGGGTTA others(208): Show GGGGGTTAGGAAGGCCGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAA GGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCTAGGG TTAGGGAGGCTGGGGTTAGGGAGCCCAGGGTTAGGGAGGCTGGGGTTAGG GAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	466	0.0022	215	c.50 others(226): Show c.5048_*5049insAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCT AACCCTGGGCTCCCTAACCCCAGCCTCCCTAACCCTAGGCCTCCCTAACC CTGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCC TGGCCTCCCTAACCCCGGCCTTCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930695	T T	TGGGGTTA others(208): Show TGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGAAGGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCA GGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0035 a0002c0002t0006g0035	1	466	0.0022	215	c.48 others(226): Show c.4895_*4896insTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGG CCTCCTTAACCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTC CCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTA ACCCCGGCCTCCCCAACCCCTGGCCTTCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4674		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930908	C C	CCGGGGTT others(208): Show CCGGGGTTGGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCA GGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGT TATGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03453.hp2 HG03130.hp1 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0052 a0002c0002t0006g0052	2	466	0.0043	215	c.46 others(226): Show c.4682_*4683insAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCATAACCCCGGCCTCCCTAACC CCTGGCCTCCCTAACCCCAGCCTCCCTAACCCTGGCCTCCCTAACCCCTG GCCTCCCTGACCCTTGGTCTCCCCAACCCCG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4461		chr11	TogoVar
TRPM2_chr21_44348621_44447644	44396158	G G	GGGTGTGG others(208): Show GGGTGTGGAGGGCTGTGGAGGGATGTGGAGGGCTGTGGAGGCTGTGGAGG GGTGTGGAGGATGTGGAGGGGTGTGGAGGGCTGTGGAGGGATGTGGAGGC TTTGGAGGGGTGTGGAGGGGTGTGGAGGGGTGTGGAGGGCTGTGGAGGGA TGTGGAGGCTGTGGAGGGGTGTGGAGGGGTGTGGAGGGGTGTGGAGGCTG TGGAGGGATGTGGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0003 a0008c0018t0003	a0008c0018t0003g0004 a0008c0018t0003g0004	1	44	0.0227	215	c.193 others(232): Show c.1932+607_1932+608insGGTGTGGAGGGCTGTGGAGGGATGTGGA GGGCTGTGGAGGCTGTGGAGGGGTGTGGAGGATGTGGAGGGGTGTGGAGG GCTGTGGAGGGATGTGGAGGCTTTGGAGGGGTGTGGAGGGGTGTGGAGGG GTGTGGAGGGCTGTGGAGGGATGTGGAGGCTGTGGAGGGGTGTGGAGGGG TGTGGAGGGGTGTGGAGGCTGTGGAGGGATGTGGAGA	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	12/31			chr21	TogoVar

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