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
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(202): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAA AAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	202	0.0050	209	c.20- others(224): Show c.20-3989_20-3988insTTCTTTCTTTTTTTCTTTTCTTTTCCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PGAM5_chr12_132705842_132727734	132727561	T T	TGCTGAAC others(202): Show TGCTGAACCCTGGCACCGCGCGGGCACATGCGCCCGGACGGAGGAGAGAC GCACTGCTGAACCCTGGCACCGTGGGCACACGCGCTCCGGGCGGAGGAGA GGCACTGCTGAACCCTTGGCACCCGCGGGCACACGCGCCCGGATGGAGGA GATGCACTGCTGAACCCTGGCACCGTGGGCACACGTGCCCGGAGCGGAGG AGAGGCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0181	1	392	0.0026	209	c.67 others(220): Show c.6733_*6734insGCTGAACCCTGGCACCGCGCGGGCACATGCGCCC GGACGGAGGAGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACGCGC TCCGGGCGGAGGAGAGGCACTGCTGAACCCTTGGCACCCGCGGGCACACG CGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGCACCGTGGGCACACG TGCCCGGAGCGGAGGAGAGGCACTG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		4828		chr12	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCTC others(202): Show CCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCCT CCCCGTCCCTCTCCCATCCCCCTCCCTCTCCCATCCCCCTCCCATCCCCC TCCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCTCCC CTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0262 a0001c0012t0003g0262	1	25	0.0400	209	c.218 others(228): Show c.2189+2324_2189+2325insCTCCCCTCCCCATCCCCTCCCACTCC GCTCGCCTCCCCTCCCCCTCCCCGTCCCTCTCCCATCCCCCTCCCTCTCC CATCCCCCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCTCTCCCAT CCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCC CCTCCCCCCTTCCCCTCCCCTCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PKHD1_chr6_51610299_52092613	51981333	C C	CCCTCTCC others(202): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0037 a0037	a0037c0068 a0037c0068	a0037c0068t0001 a0037c0068t0001	a0037c0068t0001g0091 a0037c0068t0001g0091	1	130	0.0077	209	c.575 others(230): Show c.5752-21308_5752-21307insAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLD4_chr14_104919879_104938236	104933704	G G	GGACGGGA others(202): Show GGACGGGAGGGGCCTGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCG GGAGGGGAGCGGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCGGGGC TGAGTGAGGGGAGGGCGGGAGGGGACCCGCGTCTGAGGGGACCGGGGAGG GCGGGAGGCGACCCGGGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGGG CTGAGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	423	0.0024	209	c.74 others(218): Show c.740_*741insGACGGGAGGGGCCTGGGAGGGGAGCGGGGCTGAGGG GACGGGGAGGGCGGGAGGGGAGCGGGGGCTGAGGGGACGGGGAGGGCGGG AGGGGACCGGGGCTGAGTGAGGGGAGGGCGGGAGGGGACCCGCGTCTGAG GGGACCGGGGAGGGCGGGAGGCGACCCGGGGCTGAGTGAGGGGAGGGTGG GAGGGGAGCGGGGCTGAGGGGAC	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		469		chr14	TogoVar
POLD1_chr19_50379347_50423014	50391110	A A	AGGCAGAG others(202): Show AGGCAGAGGGGCTCCTGACTTCCCAGACGGGGCAGCTGGGCAGAGGCTCC CCTCACCTCCCGGACGGGGTGGCTGGCCGAGCGGGGGCTGCCGGGCAGAG GGGCTCCTCACTGATCAGATGGGGCGGCTGGGCAGAGACGCTCCTCACCT CCCAGACGGGGTGGCGGTCGGGCAGAGACACTCCTCAGATCCCAGACGGG GTCGCGGCCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp1 HG03139.hp1 others(1): Show HG01891.hp2 HG02886.hp1 HG03139.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0015 a0002c0002 a0002c0015	a0002c0002t0001 a0002c0015t0001 a0002c0002t0001 a0002c0015t0001	a0002c0002t0001g0029 a0002c0002t0001g0059 a0002c0015t0001g0037 others(1): Show a0002c0002t0001g0029 a0002c0002t0001g0059 a0002c0015t0001g0037 a0002c0015t0001g0038	4	312	0.0128	209	c.-2+ others(224): Show c.-2+6728_-2+6729insGGCTCCTGACTTCCCAGACGGGGCAGCTGG GCAGAGGCTCCCCTCACCTCCCGGACGGGGTGGCTGGCCGAGCGGGGGCT GCCGGGCAGAGGGGCTCCTCACTGATCAGATGGGGCGGCTGGGCAGAGAC GCTCCTCACCTCCCAGACGGGGTGGCGGTCGGGCAGAGACACTCCTCAGA TCCCAGACGGGGTCGCGGCCGGGCAGAGG	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD1_chr19_50379347_50423014	50391110	A A	AGGCAGAG others(202): Show AGGCAGAGGGGCTCCTGACTTCCCAGACGGGGCAGCTGGGCAGAGGCTCC CCTCACCTCCCGGACGGGGTGGCTGGCCGAGCGGGGGCTGCCGGGCAGAG GGGCTCCTCACTGATCAGATGGGGCGGCTGGGCAGAGACGCTCCTCACCT CCCAGACGGGGTGGCGGTCGGGCAGAGACACTCCTCAGATCCCAGATGGG GTCGCGGCCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02572.hp1 others(8): Show HG01109.hp2 HG01891.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG03041.hp1 HG03209.hp1 HG03486.hp2	a0003 a0003	a0003c0006 a0003c0012 a0003c0006 a0003c0012	a0003c0006t0001 a0003c0012t0001 a0003c0006t0001 a0003c0012t0001	a0003c0006t0001g0025 a0003c0006t0001g0039 a0003c0006t0001g0040 others(8): Show a0003c0006t0001g0025 a0003c0006t0001g0039 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0006t0001g0042 a0003c0006t0001g0043 a0003c0006t0001g0045 a0003c0006t0001g0046 a0003c0012t0001g0044 a0003c0012t0001g0047 a0003c0012t0001g0048	11	319	0.0345	209	c.-2+ others(224): Show c.-2+6728_-2+6729insGGCTCCTGACTTCCCAGACGGGGCAGCTGG GCAGAGGCTCCCCTCACCTCCCGGACGGGGTGGCTGGCCGAGCGGGGGCT GCCGGGCAGAGGGGCTCCTCACTGATCAGATGGGGCGGCTGGGCAGAGAC GCTCCTCACCTCCCAGACGGGGTGGCGGTCGGGCAGAGACACTCCTCAGA TCCCAGATGGGGTCGCGGCCGGGCAGAGG	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD1_chr19_50379347_50423014	50391110	A A	AGGCAGAG others(202): Show AGGCAGAGGGGCTCCTGACTTCCCAGACGGGGCAGCTGGGCAGAGGCTCC CCTCACCTCCCGGACGGGGTGGCTGGCCGAGCGGGGGCTGCCGGGCGGAG GGGCTCCTCACTGATCAGATGGGGCGGCTGGGCAGAGACGCTCCTCACCT CCCAGACGGGGTGGCGGTCGGGCAGAGACACTCCTCAGATCCCAGACGGG GTCGCGGCCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02280.hp1 others(7): Show HG01243.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02647.hp2 HG02886.hp2 HG03130.hp2 HG03225.hp2 HG03486.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0007 a0001c0013 a0003c0033 others(1): Show a0001c0007 a0001c0013 a0003c0033 a0008c0030	a0001c0007t0001 a0001c0013t0001 a0003c0033t0001 others(1): Show a0001c0007t0001 a0001c0013t0001 a0003c0033t0001 a0008c0030t0001	a0001c0007t0001g0001 a0001c0007t0001g0051 a0001c0007t0001g0052 others(4): Show a0001c0007t0001g0001 a0001c0007t0001g0051 a0001c0007t0001g0052 a0001c0007t0001g0053 a0001c0013t0001g0103 a0003c0033t0001g0104 a0008c0030t0001g0105	10	318	0.0314	209	c.-2+ others(224): Show c.-2+6728_-2+6729insGGCTCCTGACTTCCCAGACGGGGCAGCTGG GCAGAGGCTCCCCTCACCTCCCGGACGGGGTGGCTGGCCGAGCGGGGGCT GCCGGGCGGAGGGGCTCCTCACTGATCAGATGGGGCGGCTGGGCAGAGAC GCTCCTCACCTCCCAGACGGGGTGGCGGTCGGGCAGAGACACTCCTCAGA TCCCAGACGGGGTCGCGGCCGGGCAGAGG	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP1R12C_chr19_55085918_55122637	55096950	C C	CCACCGTC others(202): Show CCACCGTCTTCACCCCTTCCCTGCAGTTCACCACTGTCTTCGCCCCTTCC CCGCGCAGTTCACCACCGTCTTCACCCCTTCCCTGCAGTTCACCACTGTC TTCACCCCTTCCCTGCAGTTCACCACCGTCTTCGCCCCTTCCCCGCAGTT CACCACCGTCTTCACCCCTTCCCCGCAGTTCACCACCGTCTTCACCCCTT CCCTGCAGTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	385	0.0026	209	c.952 others(224): Show c.952-616_952-615insAACTGCAGGGAAGGGGTGAAGACGGTGGTG AACTGCGGGGAAGGGGTGAAGACGGTGGTGAACTGCGGGGAAGGGGCGAA GACGGTGGTGAACTGCAGGGAAGGGGTGAAGACAGTGGTGAACTGCAGGG AAGGGGTGAAGACGGTGGTGAACTGCGCGGGGAAGGGGCGAAGACAGTGG TGAACTGCAGGGAAGGGGTGAAGACGGTG	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PRKX_chrX_3599340_3718649	3639300	G G	GGGGGGTG others(202): Show GGGGGGTGGATGGATGAAGGGTGGGTGGATGGATGATTGAATGAAGGGGT GGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTAGAG GGGTGGGGGGGTGGGGGGGTGGGTGCATGGATGGATGAAGGGGTGGGGGT GGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGG ATGAAGGGGT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0144 a0001c0002t0020g0144	1	212	0.0047	209	c.719 others(226): Show c.719+2551_719+2552insACCCCTTCATCCATCCACCCCCACCCCT TCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCC ATCCATGCACCCACCCCCCCACCCCCCCACCCCTCTACCCCTTCATCCAT CTACCACCCCACCCCTTCATCCATCCACCCCCACCCCTTCATTCAATCAT CCATCCACCCACCCTTCATCCATCCACCCCC	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PRR5L_chr11_36291288_36470204	36351140	A A	ATATATTT others(202): Show ATATATTTATAAATATATGTATTTTATATATAAATATATATTTATAAATA TATGTATTTTATATATAAATATATATTTATAAATATATGTATTTTATATA TAAATATATATTTATAAATATATGTATTTTATATATAAATATATATTTAT AAATATATGTATTTTATATATAAATATATATTTATAAATATATGTATTTT ATATATAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02965.hp1 others(3): Show HG02145.hp2 HG02723.hp2 HG02965.hp1 HG02976.hp2 HG03579.hp1 HG03579.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0004t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0005 a0002c0003t0020 a0002c0003t0023 a0006c0012t0002	a0001c0001t0001g0067 a0001c0001t0002g0054 a0001c0004t0005g0056 others(3): Show a0001c0001t0001g0067 a0001c0001t0002g0054 a0001c0004t0005g0056 a0002c0003t0020g0055 a0002c0003t0023g0126 a0006c0012t0002g0125	6	228	0.0263	209	c.-12 others(230): Show c.-125-49840_-125-49839insGTATTTTATATATAAATATATATT TATAAATATATGTATTTTATATATAAATATATATTTATAAATATATGTAT TTTATATATAAATATATATTTATAAATATATGTATTTTATATATAAATAT ATATTTATAAATATATGTATTTTATATATAAATATATATTTATAAATATA TGTATTTTATATATAAATTATATTTATAAATATAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PSEN1_chr14_73131507_73228691	73189448	T T	TAAAAATA others(202): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0256 a0001c0001t0006g0256	1	358	0.0028	209	c.548 others(226): Show c.548+2554_548+2555insAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATACAAAAAATTAGCCGGGCGT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTK6_chr20_63523001_63542376	63535764	G G	GCCCCCCC others(202): Show GCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCC CCTCCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCACCCCGT CCTCACCTGGCCTCCCGCACCCCCCTCACCTGGCCTCCCGCCCCCCCCTC ATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCTCCTCTCCT GGCCTCCCGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0194 a0001c0002t0003g0194	1	255	0.0039	209	c.231 others(224): Show c.231-706_231-705insGCGGGAGGCCAGGAGAGGAGGGGGCGGGAG GCCAGGTGAGGAGGGGGCGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCA GGTGAGGGGGGTGCGGGAGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTG AGGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGG AGGGGGCGGGAGGCCAGGTGAGGGGGGGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK6_chr20_63523001_63542376	63535950	G G	GCCCCCTC others(202): Show GCCCCCTCCTCTCCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCC CCCTCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCC CCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCC CTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCA CCTGGCCTCC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0230 a0001c0002t0003g0230	1	309	0.0032	209	c.231 others(224): Show c.231-892_231-891insGGAGGCCAGGTGAGGGGGGGGCGGGAGGCC AGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGG TGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGGCGGGAGGCCAGGTG AGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGG GGGGGGCGGGAGGCCAGGAGAGGAGGGGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(202): Show TCCTCTCCTCTCCTCTCCCCTCCTCTCCTCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCCCCCC CCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCTCCTCCC CCTCCCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCTCCTCCCT CCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0006 a0009c0018t0006	a0009c0018t0006g0039 a0009c0018t0006g0039	1	16	0.0625	209	c.191 others(230): Show c.191-103928_191-103927insCCTCCTCTCCTCTCCTCTCCACTC CTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTC CTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTC CTCCTCCCCCTCCCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCC TCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB11FIP3_chr16_420649_528011	504249	T T	TCCTCCTG others(202): Show TCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCA CTCCCATCTCCTCCTGTACCCCCTCAGCTCCTTGTGTACCCCTCACCTCC TGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCAGCTCCTTGT GTACCCCTCA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0203 a0001c0001t0008g0203	1	195	0.0051	209	c.139 others(228): Show c.1395+1186_1395+1187insTCACCTCCTCCTGCACTCCCATCTCC TCCTGTACCCCCTCAGCTCCTTGTGTACCCCTCACCTCCTGTACCCCCTC ACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCAGCTCCTTGTGTACCCCTCAC CTCCTGTACCCCCTCACCTCCTCCTGTACCCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504412	G G	GTACCACC others(202): Show GTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCT CACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCT GTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACC TCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0177 a0001c0001t0014g0177	1	185	0.0054	209	c.139 others(228): Show c.1396-1112_1396-1111insTACCACCTCCTCCTGTACCCCCTCAC CTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTC CTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCC CTCACCTCCTGTACCCCCTCACCTCCTCCTGTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RBCK1_chr20_403299_437139	420671	C C	CCCCATCC others(202): Show CCCCATCCCCCCGTCCCCATCCCCCATCCCCCCGTCCCCCCGTCCCCATC CCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCCGTCCCCCGTCC CCCCATCCCATCCCCCACCCCCATCCCCCCGTCCCCCGTCCCCATCCCCC ATACCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCC ATCCCCCGGT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	408	0.0025	209	c.757 others(224): Show c.757-197_757-196insATCCCCCCGTCCCCATCCCCCATCCCCCCG TCCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATC CCCCCGTCCCCCGTCCCCCCATCCCATCCCCCACCCCCATCCCCCCGTCC CCCGTCCCCATCCCCCATACCCCCATCCCCCGTCCCCCGTCCCCCATCTC CTGTCCCCCGTCCCCCATCCCCCGGTCCC	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(202): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	234	0.0043	209	c.3+2 others(224): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(202): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	29	0.0345	209	c.-76 others(218): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505306	C C	CCCTCTCC others(202): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCCTCTCCTCTCCTCTCCCTCTCCCTCTCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0006 a0001c0001t0014g0006	1	393	0.0025	209	c.-71 others(218): Show c.-719_-718insCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCTCTCCTCTCCCTCTCCCT CTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		230		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505328	C C	CTCCCTCT others(202): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0051 a0001c0001t0059g0051	1	387	0.0026	209	c.-69 others(218): Show c.-697_-696insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		208		chr14	TogoVar
RTN4R_chr22_20236415_20273318	20268311	C C	CGGCGCGG others(202): Show CGGCGCGGACTGGCGGGGCGCTCGCAGCGCGGGCCGCCGGGAGGATGAAT GTTTTATGGGATCAGGTGGTTTGACGCGCGAGGAATCCGCCCGGTTCCCC CGCCGGCCGGGGCGGGGCGGGGGCGGGCCGGGGCGGGGCCTCGCGGCGGG CGGAGCGCTCACCTGGGCGCGGGCGCGGGCGCGGGCCCGGGCGGGGGCTG GGGGGCGCGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02257.hp2 others(4): Show HG01891.hp2 HG02145.hp1 HG02257.hp2 HG02572.hp1 HG03195.hp2 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0058 a0001c0001t0003g0257 others(1): Show a0001c0001t0003g0025 a0001c0001t0003g0058 a0001c0001t0003g0257 a0001c0001t0003g0258	7	390	0.0179	209	c.-22 others(218): Show c.-220_-219insCCGCGCCCCCCAGCCCCCGCCCGGGCCCGCGCCCGC GCCCGCGCCCAGGTGAGCGCTCCGCCCGCCGCGAGGCCCCGCCCCGGCCC GCCCCCGCCCCGCCCCGGCCGGCGGGGGAACCGGGCGGATTCCTCGCGCG TCAAACCACCTGATCCCATAAAACATTCATCCTCCCGGCGGCCCGCGCTG CGAGCGCCCCGCCAGTCCGCGCC	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding	1/2	220		chr22	TogoVar
RTP5_chr2_241864729_241878823	241874961	G G	GGGGGTCC others(202): Show GGGGGTCCTAGGAGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGG ACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAG GGACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCCAACTGC AGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGGCCTCGGGGGCCAAC TGCAGGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG01109.hp2 HG02145.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0021 a0005c0005t0005 a0005c0005t0021	a0005c0005t0005g0005 a0005c0005t0021g0005 a0005c0005t0005g0005 a0005c0005t0021g0005	2	303	0.0066	209	c.16 others(220): Show c.1687_*1688insGGGGTCCTAGGAGAAACCCCAATCCAGGTCTCAG GGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTC AGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGTC TCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGG GCCTCGGGGGCCAACTGCAGGGACA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1139		chr2	TogoVar
RTP5_chr2_241864729_241878823	241875099	G G	GGGGCCAA others(202): Show GGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAGGTC TCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGG TCTCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGAGAAACCCCAATCCA GGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAAT CCAGGTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	77	0.0130	209	c.18 others(220): Show c.1825_*1826insGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAA ACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGGG AAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACGAGGGTCCCAGG AGAAACCCCAATCCAGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCC AGGAGAAACCCCAATCCAGGTCTCA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1277		chr2	TogoVar
RUNDC3B_chr7_87623398_87837296	87626246	A A	ATTGTCAT others(202): Show ATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATAT ATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATAT GTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATGT GTCATATATATCTGTCATATATGTGTCATATATATCTGTCATATATGTGT CATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	58	0.0172	209	c.-25 others(220): Show c.-2578_-2577insTTGTCATATATATGTGTCATATATATTGTCATAT ATATGTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATAT ATATGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATAT ATGTGTCATATATGTGTCATATATATCTGTCATATATGTGTCATATATAT CTGTCATATATGTGTCATATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2151		chr7	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(202): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0021 a0001c0002t0011g0021	1	182	0.0055	209	c.632 others(226): Show c.632+8104_632+8312dupCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCTCTGC others(202): Show GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	227	0.0044	209	c.166 others(226): Show c.1663-422_1663-421insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SIGIRR_chr11_400716_419999	400944	C C	CCACCCGA others(202): Show CCACCCGACCCCGCTCACACCCGGCCCCCGCTCACCCCCCGCCCCCGCTC ACCCCCGCCCCGCTCACACCCGCCCCCGCTCACACGCCCCCTCCGGCCCC GCTCACAACCCGCCCCGCTCACACCCCCGCCCCGCTCACACCCCGCCCCG CTCACCCCCGGCCCCGCTCACACACCCCGGCCCCGCTCACGCACCCGGCC CCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	238	0.0042	209	c.49 others(220): Show c.4951_*4952insTGTGAGCGGGGGCCGGGTGCGTGAGCGGGGCCGG GGTGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGGTGTGAGCGGGGCGG GGGTGTGAGCGGGGCGGGTTGTGAGCGGGGCCGGAGGGGGCGTGTGAGCG GGGGCGGGTGTGAGCGGGGCGGGGGTGAGCGGGGGCGGGGGGTGAGCGGG GGCCGGGTGTGAGCGGGGTCGGGTG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4771		chr11	TogoVar
SIGIRR_chr11_400716_419999	411476	A A	AGGGGGGG others(202): Show AGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGG TGCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTC TGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGG ATACAGTCGGTGGGGGTTGCCCAGCTCTGACCATGTCTGGATACAGTCGG TGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	66	0.0152	209	c.-15 others(228): Show c.-153-1450_-153-1449insCCCCCCCCCACCGACTGTATCCAGAC ATGGTCAGAGCTGGGCAACCCCCACCGACTGTATCCAGACATGGTCAGAG CTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCC GCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTG CATCCAGACATGGTCAGAGCTGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411476	A A	AGGGGGGT others(202): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGT GCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTCT GACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGA TACAGTCGGTGGGGGTTGCCCAGCTCTGACCATGTCTGGATACAGTCGGT GGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02486.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0140 a0001c0001t0001g0016 a0001c0001t0001g0140	2	67	0.0299	209	c.-15 others(228): Show c.-153-1450_-153-1449insCCCCCCCCCCACCGACTGTATCCAGA CATGGTCAGAGCTGGGCAACCCCCACCGACTGTATCCAGACATGGTCAGA GCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCC CGCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACT GCATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070045	G G	GAGCCCCC others(202): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCA CACTTAACGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0007 a0001c0029t0007	a0001c0029t0007g0012 a0001c0029t0007g0012	1	94	0.0106	209	c.224 others(228): Show c.2241+3587_2241+3588insGCGTTAAGTGTGATGCCCGTGTGCTG GGGGCTCACTGGGGGCTGCGTTAAGTGTGATGCCGTGTGCTGGGGGCTCA CTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCT GCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGG CTGCATAAGTGTGATGCCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073078	G G	GAGCCCCC others(202): Show GAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCAC ACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATC ACACTTATGC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	100	0.0100	209	c.224 others(226): Show c.2241+554_2241+555insGCATAAGTGTGATGCCCGTGTGCTGGGG GCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGG GGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCA TAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTG ATGCCCGTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC2A5_chr1_9030106_9074635	9053341	C C	CGATATAT others(202): Show CGATATATATTTATATATATTATATATTTATATATTATATATATTTATAT ATTATATATTTATATATTATATATATTTATATATATTATATATTTATATA TTATATATATTTATATATATTATATATATTATATATTTATATATTATATA TATTTATATATTATATATTTATATATTATATATATTTATATATATTATAT ATTTATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0040 a0001c0001t0009g0040	1	116	0.0086	209	c.293 others(226): Show c.293+4106_293+4107insATATATAAATATATAATATATATAAATA TATATAATATATAAATATATAATATATAAATATATATAATATATAAATAT ATAATATATATAATATATATAAATATATATAATATATAAATATATAATAT ATATAAATATATATAATATATAAATATATAATATATAAATATATATAATA TATAAATATATAATATATATAAATATATATC	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC37A1_chr21_42508852_42586426	42570073	A A	ATGTCATG others(202): Show ATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCC GTTGTCATGCGACACACGGCCTGGTTCTGAGAAGTGGTGGGCAGGGTGGC TGTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGG CCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCA GGGTGGCCGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03471.hp1 HG01891.hp2 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0018 a0001c0003t0018g0018	2	327	0.0061	209	c.142 others(228): Show c.1423+1642_1423+1643insTGACACACGGCCTGGTTCTGAGAAGC GGCGGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAAG TGGTGGGCAGGGTGGCTGTTGCCATGTGACACACGGCCTGGTTCTGAGAA GCGGCAGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTC TGAGAAGCGGCAGGCAGGGTGGCCGTTGTCATG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570073	A A	ATGTCATG others(202): Show ATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCC GTTGTCATGCGACACACGGCCTGGTTCTGAGAAGTGGTGGGCAGGGTGGC TGTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGG CCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCA GGGTGGCCGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03540.hp2 NA19043.hp1 HG03453.hp2 HG03540.hp2 NA19043.hp1	a0004 a0005 a0004 a0005	a0004c0010 a0005c0006 a0004c0010 a0005c0006	a0004c0010t0004 a0005c0006t0011 a0004c0010t0004 a0005c0006t0011	a0004c0010t0004g0182 a0005c0006t0011g0022 a0004c0010t0004g0182 a0005c0006t0011g0022	3	328	0.0091	209	c.142 others(228): Show c.1423+1642_1423+1643insTGACACACGGCCTGGTTCTGAGAAGC GGCGGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAAG TGGTGGGCAGGGTGGCTGTTGCCATGTGACACACGGCCTGGTTCTGAGAA GCGGCGGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTC TGAGAAGCGGCAGGCAGGGTGGCCGTTGTCATG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570331	T T	TGTTGCCA others(202): Show TGTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGG CCATTGCCATGTGACACATGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTG GCCATTGCCATGTGACACATGGCCTGGTTCTGAGAAGCGGCGGGCAGGGT GGCCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGTGGG CAGCGTGGCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0007 a0001c0001t0010g0007	2	135	0.0148	209	c.142 others(228): Show c.1423+1898_1423+1899insCATGTGACACACGGCCTGGTTCTGAG AAGCGGCGGGCAGGGTGGCCATTGCCATGTGACACATGGCCTGGTTCTGA GAAGCGGCGGGCAGGGTGGCCATTGCCATGTGACACATGGCCTGGTTCTG AGAAGCGGCGGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTG GTTCTGAGAAGCGGTGGGCAGCGTGGCCGTTGC	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42579528	T T	TCATCAGA others(202): Show TCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGC CCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCACATC AGACAGCCCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGC CCTCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACA GCCCTGCCCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03139.hp1 HG03486.hp1 HG02145.hp2 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0048 a0001c0001t0006g0230 a0001c0001t0008g0037 a0001c0001t0006g0048 a0001c0001t0006g0230 a0001c0001t0008g0037	3	165	0.0182	209	c.152 others(226): Show c.1522-190_1522-189insTCATCAGACAGCCCTGCCCTCATCAGAC AGCCCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCAC ATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGCCC TGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCTCATCAG ACAGCCCTGCCCACATCAGACAGCCCTGCCC	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC44A5_chr1_75197129_75616114	75280434	T T	TTATATAT others(202): Show TTATATATTGTATATATAATATTTATATTGTATATATTATATATTGTATA TATAATATATATATTGTATATATTATATATTGTATATATAATATATATAT TGTATATATTATATATTGTATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATAATATATATTGTATATATAATATATATA TTGTATATAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG02109.hp2 others(4): Show HG01074.hp1 HG01884.hp2 HG02109.hp2 HG02451.hp1 HG02809.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0008t0001 a0001c0001t0001 a0001c0001t0006 a0001c0008t0001	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0092 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0001g0135 a0001c0001t0006g0083 a0001c0008t0001g0136	7	65	0.1077	209	c.176 others(226): Show c.176-5393_176-5392insTTATATACAATATATATATTATATATAC AATATATATTATATACAATATATATATTATATATACAATATATAATATAT ACAATATATATATACAATATATAATATATACAATATATATATTATATATA CAATATATAATATATACAATATATATATTATATATACAATATATAATATA TACAATATAAATATTATATATACAATATATA	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280434	T T	TTATATAT others(202): Show TTATATATTGTATATATAATATTTATATTGTATATATTATATATTGTATA TATAATATATATATTGTATATATTATATATTGTATATATAATATATATAT TGTATATATTATATATTGTATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATATTATATATTGTATATATAATATATATA TTGTATATAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0081 a0001c0002t0004g0081	1	59	0.0169	209	c.176 others(226): Show c.176-5393_176-5392insTTATATACAATATATATATTATATATAC AATATATAATATATACAATATATATATTATATATACAATATATAATATAT ACAATATATATATACAATATATAATATATACAATATATATATTATATATA CAATATATAATATATACAATATATATATTATATATACAATATATAATATA TACAATATAAATATTATATATACAATATATA	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SMAD2_chr18_47803957_47935659	47850538	T T	TTATATAT others(202): Show TTATATATTATATATTATATATATTATGTATAATATATATTATATATTAT ATATATTATGTATAATATATATTATATATTATATATATATTATATATATT ATGTATAATATATATTATATATTATATATATATTATATATATTATGTATA ATATATATTATATATTATATATATATTATATATATTATGTATAATATATA TTATATATTA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0227 a0001c0001t0107g0227	1	290	0.0034	209	c.784 others(224): Show c.784+735_784+736insTAATATATAATATATATTATACATAATATA TATAATATATATATAATATATAATATATATTATACATAATATATATAATA TATATATAATATATAATATATATTATACATAATATATATAATATATATAT AATATATAATATATATTATACATAATATATATAATATATAATATATATTA TACATAATATATATAATATATAATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SNTG2_chr2_945849_1372613	1222473	T T	TCGCTGTA others(202): Show TCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGC CTGCTGTGGAAGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGA GGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAG GAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGA GGTGCTGGAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	165	0.0061	209	c.719 others(228): Show c.719+13258_719+13259insCGGCGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGTGGAAGTGCTGGATCGCTGTAGAGGAAAGTGGTGCA GTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCG CTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTG CTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7448836	T T	TTCCCTCC others(202): Show TTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCC TTCCTCCCTCTCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTT CCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0001 a0001c0049t0001	a0001c0049t0001g0059 a0001c0049t0001g0059	1	150	0.0067	209	c.548 others(228): Show c.548+52487_548+52488insCCTCCCTCCCTCCCTTCCCTCCCTCC CTTCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(202): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCC CCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCC ACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	18	0.0556	209	c.54 others(220): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPTBN1_chr2_54451327_54676446	54463550	A A	AGAAAAGG others(202): Show AGAAAAGGGGAAATGTTTTTTAATGGAACATAATCAAATAAATTATGGCG CAACTGTAGGGTGGAATTCAATGTAGTGCTTAAAATAATGGTTTGGAAGA ATATTACTGAGATGGGAAGATGCCGGTAATACAGGGGTTAGTGGAAATAT CTGGATGCAAAATTGTATAGTGTACTATAATCCTGGTTTTACTGTATTAA GTTGAGGGAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0238 a0001c0001t0010g0238	1	368	0.0027	209	c.-48 others(226): Show c.-48+7032_-48+7033insGAAAAGGGGAAATGTTTTTTAATGGAAC ATAATCAAATAAATTATGGCGCAACTGTAGGGTGGAATTCAATGTAGTGC TTAAAATAATGGTTTGGAAGAATATTACTGAGATGGGAAGATGCCGGTAA TACAGGGGTTAGTGGAAATATCTGGATGCAAAATTGTATAGTGTACTATA ATCCTGGTTTTACTGTATTAAGTTGAGGGAC	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35			chr2	TogoVar
SRMS_chr20_63533489_63552749	63535950	G G	GCCCCCTC others(202): Show GCCCCCTCCTCTCCTGGCCTCCCGCCCCCCCCCCTCACCTGGCCTCCCGC CCCCTCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCC CCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCC CTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCA CCTGGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0058 a0005c0007t0002g0058	1	321	0.0031	209	c.48 others(220): Show c.4867_*4868insGGAGGCCAGGTGAGGGGGGGGCGGGAGGCCAGGT GAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGTGAG GAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGTGAGGAG GGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGG GGCGGGAGGCCAGGAGAGGAGGGGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2538		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535950	G G	GCCCCCTC others(202): Show GCCCCCTCCTCTCCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCC CCCTCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCC CCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCC CTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCA CCTGGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0003 a0003c0004t0002g0003	1	321	0.0031	209	c.48 others(220): Show c.4867_*4868insGGAGGCCAGGTGAGGGGGGGGCGGGAGGCCAGGT GAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGTGAG GAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGGCGGGAGGCCAGGTGAGGA GGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGG GGCGGGAGGCCAGGAGAGGAGGGGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2538		chr20	TogoVar
STON1_chr2_48525154_48603513	48564480	T T	TTCTTCTT others(202): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0117 a0002c0002t0002g0117	1	318	0.0031	209	c.-47 others(228): Show c.-47-16106_-47-16105insCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
SWAP70_chr11_9659077_9757993	9706356	C C	CTGGTGAT others(202): Show CTGGTGATCTGTGTACACTTGGTGATCTGTATACACTGGTGATCTGTATA CACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTA TACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTG TGTATACTTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATC TGTGTATACT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0016 a0002c0004t0016	a0002c0004t0016g0006 a0002c0004t0016g0006	1	291	0.0034	209	c.241 others(226): Show c.241-7099_241-7098insGTACACTTGGTGATCTGTATACACTGGT GATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTG GTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACAC TGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATAC ACTGGTGATCTGTGTATACTTGGTGATCTGT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
TCF3_chr19_1604292_1657615	1628153	C C	CAGGGGGT others(202): Show CAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGC GGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCA GAACTCACAG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0004 a0011c0027t0004	a0011c0027t0004g0020 a0011c0027t0004g0020	1	229	0.0044	209	c.299 others(224): Show c.299-728_299-727insCTGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGT TCTGCTGTCCCCTTCCCGCCTCACCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar

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